#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
SEMG1	6406	broad.mit.edu	37	20	43836817	43836817	+	Silent	SNP	A	A	G	rs17850164		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr20:43836817A>G	ENST00000372781.3	+	2	936	c.879A>G	c.(877-879)acA>acG	p.T293T	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	293	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.T293T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTTCAAGTACAGAAGAAAGAC	0.383																																						ENST00000372781.3																			2	Substitution - coding silent(2)	p.T293T(2)	lung(1)|kidney(1)	cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(877-879)acA>acG		semenogelin I							67.0	64.0	65.0					20																	43836817		2203	4300	6503	SO:0001819	synonymous_variant	6406							g.chr20:43836817A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.879A>G	20.37:g.43836817A>G						SEMG1_ENST00000244069.6_Intron	p.T293T	NM_003007.3	NP_002998.1					2	936	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.879A>G	CCDS13345.1																																																																																				0.383	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		4	80	0	0	0	1	0	4	80				
SRGAP2	23380	broad.mit.edu	37	1	206566110	206566110	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:206566110C>T	ENST00000414007.1	+	2	131	c.131C>T	c.(130-132)gCg>gTg	p.A44V	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	184	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CTAAAGGAGGCGGAGAAGCAG	0.557																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(130-132)gCg>gTg		SLIT-ROBO Rho GTPase activating protein 2							36.0	38.0	37.0					1																	206566110		2073	4219	6292	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206566110C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.131C>T	1.37:g.206566110C>T	ENSP00000390898:p.Ala44Val					SRGAP2_ENST00000419187.2_5'UTR	p.A44V			O75044	FNBP2_HUMAN			2	131	+	Breast(84;0.137)		184			FCH.			Missense_Mutation	SNP	ENST00000414007.1	37	c.131C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.375691	0.95923	.	.	ENSG00000163486	ENST00000414359;ENST00000414007	T	0.18338	2.22	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	.	.	.	0.80722	D	1.000000	D;P;P	0.89917	1.0;0.884;0.909	D;P;B	0.80764	0.994;0.699;0.233	T	0.29058	-1.0024	8	0.45353	T	0.12	.	19.085	0.93200	0.0:1.0:0.0:0.0	.	31;184;184	B4DDU0;O75044;B7Z3G4	.;FNBP2_HUMAN;.	V	98;44	ENSP00000390898:A44V	ENSP00000390898:A44V	A	+	2	0	SRGAP2	204632733	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.811000	0.86092	2.483000	0.83821	0.455000	0.32223	GCG		0.557	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		4	39	0	0	0	1	0	4	39				
DDX3X	1654	broad.mit.edu	37	X	41205821	41205821	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chrX:41205821G>A	ENST00000399959.2	+	14	2416	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.D505N	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	521	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTGCCAAGTGATATTGAAGA	0.363										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1561-1563)Gat>Aat		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							164.0	156.0	158.0					X																	41205821		2195	4300	6495	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41205821G>A	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1561G>A	X.37:g.41205821G>A	ENSP00000382840:p.Asp521Asn	HNSCC(61;0.18)				DDX3X_ENST00000457138.2_Missense_Mutation_p.D505N|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	p.D521N	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			14	2416	+			521			Helicase C-terminal.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1561G>A	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453197	0.96223	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.73681	-0.77;-0.77	5.22	5.22	0.72569	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.71459	0.3342	N	0.11756	0.17	0.80722	D	1	P;P;P	0.49961	0.471;0.93;0.93	B;P;P	0.54210	0.243;0.745;0.745	T	0.78137	-0.2321	10	0.87932	D	0	-1.2872	17.9414	0.89027	0.0:0.0:1.0:0.0	.	505;533;521	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	N	521;505	ENSP00000382840:D521N;ENSP00000392494:D505N	ENSP00000382840:D521N	D	+	1	0	DDX3X	41090765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.810000	0.99221	2.170000	0.68504	0.600000	0.82982	GAT		0.363	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		5	147	0	0	0	1	0	5	147				
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G	rs199631015		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr13:52864001A>G	ENST00000451298.1	-	0	168																											GAAAAAATAAAGCAATAGCTA	0.313																																						ENST00000451298.1																			0																																																			644623							g.chr13:52864001A>G																													13.37:g.52864001A>G						RP11-64P12.8_ENST00000606031.1_RNA								0	168	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	43	0	0	0	1	0	3	43				
EPB41	2035	broad.mit.edu	37	1	29365807	29365807	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:29365807C>A	ENST00000343067.4	+	11	1632	c.1505C>A	c.(1504-1506)gCg>gAg	p.A502E	EPB41_ENST00000347529.3_Missense_Mutation_p.A467E|EPB41_ENST00000373797.1_Missense_Mutation_p.A502E|EPB41_ENST00000373800.3_Missense_Mutation_p.A293E|EPB41_ENST00000349460.4_Missense_Mutation_p.A293E|EPB41_ENST00000398863.2_Missense_Mutation_p.A502E|EPB41_ENST00000356093.2_Missense_Mutation_p.A502E|EPB41_ENST00000373798.1_Missense_Mutation_p.A502E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	502	Hydrophilic.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAATTTCTTGCGCTAGGATCC	0.428																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1504-1506)gCg>gAg		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							89.0	89.0	89.0					1																	29365807		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29365807C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1505C>A	1.37:g.29365807C>A	ENSP00000345259:p.Ala502Glu					EPB41_ENST00000373800.3_Missense_Mutation_p.A293E|EPB41_ENST00000398863.2_Missense_Mutation_p.A502E|EPB41_ENST00000356093.2_Missense_Mutation_p.A502E|EPB41_ENST00000373797.1_Missense_Mutation_p.A502E|EPB41_ENST00000373798.1_Missense_Mutation_p.A502E|EPB41_ENST00000349460.4_Missense_Mutation_p.A293E|EPB41_ENST00000347529.3_Missense_Mutation_p.A467E	p.A502E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	11	1632	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	502			Hydrophilic.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.1505C>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529116	0.85706	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.39	5.39	0.77823	FERM adjacent (FA) (1);	0.103054	0.64402	D	0.000003	D	0.89729	0.6799	L	0.40543	1.245	0.52099	D	0.999944	P;P;D;P;D;D;D;D;D;D	0.89917	0.827;0.777;0.992;0.827;0.981;0.99;0.992;0.99;1.0;0.967	P;P;D;P;P;P;D;P;D;P	0.87578	0.664;0.647;0.929;0.592;0.838;0.884;0.929;0.838;0.998;0.785	D	0.90520	0.4488	10	0.87932	D	0	.	18.5077	0.90904	0.0:1.0:0.0:0.0	.	396;502;502;502;502;502;519;467;293;293	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	E	519;502;502;502;396;502;293;293;467;502;502	ENSP00000345259:A502E;ENSP00000348397:A502E;ENSP00000381839:A502E;ENSP00000317597:A293E;ENSP00000362906:A293E;ENSP00000290100:A467E;ENSP00000362904:A502E;ENSP00000362903:A502E	ENSP00000345259:A502E	A	+	2	0	EPB41	29238394	0.969000	0.33509	0.996000	0.52242	0.984000	0.73092	2.361000	0.44160	2.687000	0.91594	0.650000	0.86243	GCG		0.428	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		16	70	1	0	1.02788e-11	1	1.06333e-11	16	70				
IGSF9B	22997	broad.mit.edu	37	11	133790306	133790306	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr11:133790306C>T	ENST00000321016.8	-	18	3544	c.3314G>A	c.(3313-3315)gGc>gAc	p.G1105D	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1105D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1105	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGCGACTTGCCTGCCCAACC	0.706																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3313-3315)gGc>gAc		immunoglobulin superfamily, member 9B							26.0	28.0	28.0					11																	133790306		1902	4104	6006	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133790306C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3314G>A	11.37:g.133790306C>T	ENSP00000317980:p.Gly1105Asp					IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1105D	p.G1105D			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3544	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1105			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3314G>A		.	.	.	.	.	.	.	.	.	.	C	16.48	3.134431	0.56828	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.68025	0.03;-0.3	5.15	5.15	0.70609	.	0.000000	0.45606	D	0.000349	T	0.71771	0.3379	N	0.19112	0.55	0.45607	D	0.998542	D	0.76494	0.999	D	0.79108	0.992	T	0.75056	-0.3452	10	0.51188	T	0.08	.	18.2082	0.89861	0.0:1.0:0.0:0.0	.	1105	Q9UPX0	TUTLB_HUMAN	D	1105;947	ENSP00000317980:G1105D;ENSP00000436552:G947D	ENSP00000317980:G1105D	G	-	2	0	IGSF9B	133295516	1.000000	0.71417	0.999000	0.59377	0.633000	0.38033	5.693000	0.68264	2.394000	0.81467	0.455000	0.32223	GGC		0.706	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		3	45	0	0	0	1	0	3	45				
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr6:29761676C>G	ENST00000457107.1	+	0	902									major histocompatibility complex, class I, V (pseudogene)																		gagagggtttcatattcaaga	0.493																																						ENST00000457107.1																			0																																																			352962							g.chr6:29761676C>G	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761676C>G														0	902	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.493	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		4	23	0	0	0	1	0	4	23				
FHDC1	85462	broad.mit.edu	37	4	153884185	153884185	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr4:153884185C>T	ENST00000511601.1	+	8	1120	c.932C>T	c.(931-933)gCc>gTc	p.A311V	FHDC1_ENST00000260008.3_Missense_Mutation_p.A311V			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	311	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGAGGGTATGCCGGCAATGCA	0.403																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(931-933)gCc>gTc		FH2 domain containing 1							106.0	113.0	111.0					4																	153884185		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153884185C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.932C>T	4.37:g.153884185C>T	ENSP00000427567:p.Ala311Val					FHDC1_ENST00000260008.3_Missense_Mutation_p.A311V	p.A311V			Q9C0D6	FHDC1_HUMAN			8	1120	+	all_hematologic(180;0.093)		311			FH2.			Missense_Mutation	SNP	ENST00000511601.1	37	c.932C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	33	5.202239	0.94997	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.17691	2.26;2.26	5.49	5.49	0.81192	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60637	-0.7224	10	0.59425	D	0.04	.	19.4094	0.94662	0.0:1.0:0.0:0.0	.	311	Q9C0D6	FHDC1_HUMAN	V	311	ENSP00000427567:A311V;ENSP00000260008:A311V	ENSP00000260008:A311V	A	+	2	0	FHDC1	154103635	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.583000	0.87209	0.561000	0.74099	GCC		0.403	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		4	173	0	0	0	1	0	4	173				
ZNF28	7576	broad.mit.edu	37	19	53303977	53303977	+	Missense_Mutation	SNP	C	C	T	rs188751892		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr19:53303977C>T	ENST00000457749.2	-	4	1240	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	ZNF28_ENST00000438150.2_Missense_Mutation_p.R321H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R321H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R321H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATGAAGCCTACGATGGCGTGC	0.383																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(961-963)cGt>cAt		zinc finger protein 28							88.0	91.0	90.0					19																	53303977		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303977C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1121G>A	19.37:g.53303977C>T	ENSP00000397693:p.Arg374His					ZNF28_ENST00000457749.2_Missense_Mutation_p.R374H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R321H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R321H	p.R321H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1855	-			374					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.962G>A	CCDS33093.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	-	2.913	-0.224912	0.06022	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	1.75	0.423	0.16463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	L	0.37850	1.14	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32719	-0.9896	9	0.39692	T	0.17	.	2.3666	0.04320	0.2389:0.1613:0.0:0.5998	.	374	P17035	ZNF28_HUMAN	H	321;374;321;321;321	ENSP00000412143:R321H;ENSP00000397693:R374H;ENSP00000353410:R321H;ENSP00000444965:R321H;ENSP00000375661:R321H	ENSP00000353410:R321H	R	-	2	0	ZNF28	57995789	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.331000	0.02672	-0.024000	0.13941	-1.043000	0.02367	CGT		0.383	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		4	172	0	0	0	1	0	4	172				
DEPDC5	9681	broad.mit.edu	37	22	32200859	32200859	+	Missense_Mutation	SNP	G	G	A	rs575467056		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr22:32200859G>A	ENST00000382112.3	+	16	1245	c.1175G>A	c.(1174-1176)cGt>cAt	p.R392H	DEPDC5_ENST00000400242.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R364H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R392H	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	392					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGTGATTCTCGTCTGGGCGAT	0.453																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1174-1176)cGt>cAt		DEP domain containing 5							210.0	198.0	202.0					22																	32200859		1902	4134	6036	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32200859G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1175G>A	22.37:g.32200859G>A	ENSP00000371546:p.Arg392His					DEPDC5_ENST00000535622.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R392H|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R392H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R392H|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R364H|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R392H	p.R392H			O75140	DEPD5_HUMAN			17	1317	+			392					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1175G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064168	0.36373	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.46819	1.45;1.44;0.86;1.84;1.84;1.83;1.43;1.84;1.83;1.84	5.02	3.99	0.46301	.	0.157230	0.56097	D	0.000030	T	0.40448	0.1117	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B;B	0.26602	0.0;0.015;0.154;0.023;0.014;0.018	B;B;B;B;B;B	0.13407	0.0;0.003;0.009;0.004;0.003;0.007	T	0.20739	-1.0266	10	0.28530	T	0.3	.	13.8524	0.63506	0.0:0.0:0.8461:0.1539	.	392;364;392;392;392;392	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	H	392;364;392;392;392;392;392;392;392;392;392	ENSP00000440210:R392H;ENSP00000441358:R364H;ENSP00000383101:R392H;ENSP00000266091:R392H;ENSP00000383108:R392H;ENSP00000383105:R392H;ENSP00000371539:R392H;ENSP00000371546:R392H;ENSP00000371545:R392H;ENSP00000383107:R392H	ENSP00000266091:R392H	R	+	2	0	DEPDC5	30530859	0.994000	0.37717	0.910000	0.35882	0.994000	0.84299	5.735000	0.68587	1.094000	0.41399	0.543000	0.68304	CGT		0.453	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		4	178	0	0	0	1	0	4	178				
TUBB8P7	197331	broad.mit.edu	37	16	90162172	90162172	+	RNA	SNP	T	T	C	rs201872132		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr16:90162172T>C	ENST00000564451.1	+	0	1525				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GATGGCTGCCTGTGACCCCCG	0.567																																						ENST00000567960.1																			0																																																			197331							g.chr16:90162172T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162172T>C						TUBB8P7_ENST00000564451.1_RNA								0	908	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.567	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	146	0	0	0	1	0	5	146				
USP6	9098	broad.mit.edu	37	17	5074086	5074086	+	Missense_Mutation	SNP	G	G	A	rs372010919		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr17:5074086G>A	ENST00000574788.1	+	36	6060	c.3830G>A	c.(3829-3831)tGt>tAt	p.C1277Y	USP6_ENST00000250066.6_Missense_Mutation_p.C1277Y|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.C960Y			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1277	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATGAAGCATGTGGCAATGGC	0.522			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(3829-3831)tGt>tAt		ubiquitin specific peptidase 6 (Tre-2 oncogene)		G	TYR/CYS	0,4406		0,0,2203	89.0	75.0	80.0		3830	1.5	1.0	17		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP6	NM_004505.2	194	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1277/1407	5074086	1,13005	2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5074086G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3830G>A	17.37:g.5074086G>A	ENSP00000460380:p.Cys1277Tyr					USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.C960Y|USP6_ENST00000250066.6_Missense_Mutation_p.C1277Y	p.C1277Y			P35125	UBP6_HUMAN			36	6060	+			1277					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.3830G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	4.201	0.035982	0.08148	0.0	1.16E-4	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.12774	3.06;2.65	2.49	1.49	0.22878	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.05777	0.0151	N	0.14661	0.345	0.35371	D	0.789046	B;B	0.22414	0.002;0.069	B;B	0.21708	0.006;0.036	T	0.30475	-0.9977	9	0.02654	T	1	.	6.9001	0.24277	0.1592:0.0:0.8407:0.0	.	960;1277	P35125-2;P35125	.;UBP6_HUMAN	Y	1277;960	ENSP00000250066:C1277Y;ENSP00000305473:C960Y	ENSP00000250066:C1277Y	C	+	2	0	USP6	5014810	1.000000	0.71417	0.999000	0.59377	0.485000	0.33311	2.970000	0.49240	1.400000	0.46741	0.184000	0.17185	TGT		0.522	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		5	93	0	0	0	1	0	5	93				
RYR1	6261	broad.mit.edu	37	19	38958370	38958370	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr19:38958370G>A	ENST00000359596.3	+	25	3299	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RYR1_ENST00000355481.4_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCGAGATGCGCGTGGGCTGG	0.627																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3298-3300)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						88.0	75.0	79.0					19																	38958370		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958370G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3299G>A	19.37:g.38958370G>A	ENSP00000352608:p.Arg1100His					RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H	p.R1100H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3430	+	all_cancers(60;7.91e-06)		1100			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3299G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	18.16	3.562473	0.65538	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71341	-0.56;-0.56;-0.56	2.94	2.94	0.34122	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.177658	0.34200	U	0.004163	D	0.87916	0.6298	H	0.95780	3.72	0.47905	D	0.999549	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91875	0.5511	10	0.87932	D	0	.	14.772	0.69688	0.0:0.0:1.0:0.0	.	1100;1100	P21817-2;P21817	.;RYR1_HUMAN	H	1100	ENSP00000352608:R1100H;ENSP00000347667:R1100H;ENSP00000354254:R1100H	ENSP00000347667:R1100H	R	+	2	0	RYR1	43650210	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.329000	0.96413	1.972000	0.57404	0.403000	0.27427	CGC		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	73	0	0	0	1	0	12	73				
NOC3L	64318	broad.mit.edu	37	10	96112725	96112725	+	Silent	SNP	C	C	G			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr10:96112725C>G	ENST00000371361.3	-	7	886	c.786G>C	c.(784-786)ctG>ctC	p.L262L	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Silent_p.L262L|NOC3L_ENST00000543788.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	262					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATAACTCCATCAGAGAAACAA	0.333																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(784-786)ctG>ctC		nucleolar complex associated 3 homolog (S. cerevisiae)							96.0	103.0	101.0					10																	96112725		2203	4300	6503	SO:0001819	synonymous_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96112725C>G	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.786G>C	10.37:g.96112725C>G						NOC3L_ENST00000543788.1_5'UTR|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Silent_p.L262L	p.L262L	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			7	886	-		Colorectal(252;0.0897)	262					Q9H5M6|Q9H9D8	Silent	SNP	ENST00000371361.3	37	c.786G>C	CCDS7433.1																																																																																				0.333	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		4	242	0	0	0	1	0	4	242				
LYST	1130	broad.mit.edu	37	1	235969125	235969125	+	Missense_Mutation	SNP	C	C	T	rs148299757		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:235969125C>T	ENST00000389794.3	-	6	3485	c.3311G>A	c.(3310-3312)cGa>cAa	p.R1104Q	LYST_ENST00000536965.1_Missense_Mutation_p.R1104Q|LYST_ENST00000389793.2_Missense_Mutation_p.R1104Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1104					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCCAAAAGTCGTATACTTTG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		13071	0.0		0.001	False		,,,				2504	0.0					ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3310-3312)cGa>cAa		lysosomal trafficking regulator		C	GLN/ARG	0,4406		0,0,2203	76.0	74.0	75.0		3311	5.6	1.0	1	dbSNP_134	75	4,8596	3.7+/-12.6	0,4,4296	yes	missense	LYST	NM_000081.2	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	1104/3802	235969125	4,13002	2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969125C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3311G>A	1.37:g.235969125C>T	ENSP00000374444:p.Arg1104Gln					LYST_ENST00000389793.2_Missense_Mutation_p.R1104Q|LYST_ENST00000536965.1_Missense_Mutation_p.R1104Q	p.R1104Q			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	3485	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1104					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.3311G>A	CCDS31062.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	35	5.475629	0.96291	0.0	4.65E-4	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.66460	-0.21;-0.21;0.89	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81915	-0.0714	10	0.66056	D	0.02	.	19.5156	0.95162	0.0:1.0:0.0:0.0	.	1104;1104	Q99698-3;Q99698	.;LYST_HUMAN	Q	1104	ENSP00000374444:R1104Q;ENSP00000374443:R1104Q;ENSP00000438315:R1104Q	ENSP00000374443:R1104Q	R	-	2	0	LYST	234035748	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.905000	0.69893	2.605000	0.88082	0.563000	0.77884	CGA		0.428	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			34	51	0	0	0	1	0	34	51				
MLKL	197259	broad.mit.edu	37	16	74725330	74725330	+	Silent	SNP	C	C	T			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr16:74725330C>T	ENST00000308807.7	-	4	1030	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTTGCTCTTGCGGGATCTCCT	0.478																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(565-567)ccG>ccA		mixed lineage kinase domain-like							185.0	172.0	176.0					16																	74725330		2198	4300	6498	SO:0001819	synonymous_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74725330C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.567G>A	16.37:g.74725330C>T						MLKL_ENST00000306247.7_Intron	p.P189P	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			4	1030	-			189						Silent	SNP	ENST00000308807.7	37	c.567G>A	CCDS32487.1																																																																																				0.478	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		8	245	0	0	0	1	0	8	245				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	44	0	0	0	1	0	3	44				
MMP15	4324	broad.mit.edu	37	16	58077523	58077523	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr16:58077523A>G	ENST00000219271.3	+	9	2347	c.1562A>G	c.(1561-1563)aAt>aGt	p.N521S		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	521					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	TTCCTGAGCAATGACGCAGGT	0.627																																						ENST00000219271.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1561-1563)aAt>aGt		matrix metallopeptidase 15 (membrane-inserted)							47.0	42.0	44.0					16																	58077523		2198	4300	6498	SO:0001583	missense	4324				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:58077523A>G	Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"""matrix metalloproteinase 15 (membrane-inserted)"""			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1562A>G	16.37:g.58077523A>G	ENSP00000219271:p.Asn521Ser						p.N521S	NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN			9	2347	+			521			Hemopexin-like 4.		A0A2U6|Q14111	Missense_Mutation	SNP	ENST00000219271.3	37	c.1562A>G	CCDS10792.1	.	.	.	.	.	.	.	.	.	.	A	2.890	-0.229793	0.06022	.	.	ENSG00000102996	ENST00000219271	T	0.02216	4.39	5.45	0.497	0.16902	Hemopexin/matrixin (2);	0.393945	0.27956	N	0.017162	T	0.00695	0.0023	N	0.00637	-1.305	0.09310	N	1	B	0.15141	0.012	B	0.28385	0.089	T	0.47861	-0.9084	10	0.06757	T	0.87	.	5.1881	0.15195	0.4465:0.2896:0.2639:0.0	.	521	P51511	MMP15_HUMAN	S	521	ENSP00000219271:N521S	ENSP00000219271:N521S	N	+	2	0	MMP15	56635024	0.791000	0.28800	0.909000	0.35828	0.877000	0.50540	1.925000	0.40074	0.072000	0.16694	0.533000	0.62120	AAT		0.627	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257342.1	NM_002428		8	11	0	0	0	1	0	8	11				
PCDHA1	56147	broad.mit.edu	37	5	140167494	140167494	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr5:140167494C>T	ENST00000504120.2	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGATGCGGGCGTGCCG	0.682																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1618-1620)gCg>gTg									62.0	67.0	66.0					5																	140167494		2203	4298	6501	SO:0001583	missense	56147							g.chr5:140167494C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1619C>T	5.37:g.140167494C>T	ENSP00000420840:p.Ala540Val					PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron	p.A540V	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1619	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1619C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615636	0.66672	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.53857	0.6;0.6	3.49	3.49	0.39957	Cadherin (4);Cadherin-like (1);	0.404731	0.17581	U	0.169114	T	0.62575	0.2439	L	0.53617	1.68	0.31041	N	0.71635	D;D	0.67145	0.995;0.996	P;P	0.56343	0.783;0.796	T	0.68697	-0.5340	10	0.87932	D	0	.	15.4054	0.74874	0.0:1.0:0.0:0.0	.	540;540	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	540	ENSP00000420840:A540V;ENSP00000367373:A540V	ENSP00000367373:A540V	A	+	2	0	PCDHA1	140147678	0.462000	0.25791	0.953000	0.39169	0.396000	0.30629	0.881000	0.28173	1.676000	0.50930	0.549000	0.68633	GCG		0.682	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		5	160	0	0	0	1	0	5	160				
TPTE2P2	644623	broad.mit.edu	37	13	52864053	52864053	+	RNA	SNP	T	T	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr13:52864053T>A	ENST00000451298.1	-	0	116																											AACTTTGCTATCAGTGAAAAT	0.308																																						ENST00000451298.1																			0																																																			644623							g.chr13:52864053T>A																													13.37:g.52864053T>A						RP11-64P12.8_ENST00000606031.1_RNA								0	116	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.308	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	34	0	0	0	1	0	3	34				
ILDR1	286676	broad.mit.edu	37	3	121720708	121720708	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr3:121720708G>A	ENST00000344209.5	-	4	509	c.383C>T	c.(382-384)gCa>gTa	p.A128V	ILDR1_ENST00000462014.1_Missense_Mutation_p.A140V|ILDR1_ENST00000273691.3_Missense_Mutation_p.A128V|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	128	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CACGAGATCTGCTCCTACACA	0.517																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(382-384)gCa>gTa		immunoglobulin-like domain containing receptor 1							137.0	129.0	131.0					3																	121720708		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121720708G>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.383C>T	3.37:g.121720708G>A	ENSP00000345667:p.Ala128Val					ILDR1_ENST00000462014.1_Missense_Mutation_p.A140V|ILDR1_ENST00000393631.1_Intron|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.A128V	p.A128V	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	488	-			128			Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.383C>T	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229027	0.95173	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000462014	T;T;T	0.55930	0.49;0.49;0.49	5.14	5.14	0.70334	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.77169	-0.2686	10	0.87932	D	0	-12.5997	16.4898	0.84197	0.0:0.0:1.0:0.0	.	128;128;140	Q86SU0;Q86SU0-2;Q86SU0-6	ILDR1_HUMAN;.;.	V	128;128;140	ENSP00000273691:A128V;ENSP00000345667:A128V;ENSP00000419414:A140V	ENSP00000273691:A128V	A	-	2	0	ILDR1	123203398	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.208000	0.95075	2.837000	0.97791	0.655000	0.94253	GCA		0.517	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		16	34	0	0	0	1	0	16	34				
ERG	2078	broad.mit.edu	37	21	39817410	39817410	+	Silent	SNP	G	G	A	rs371109394		TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr21:39817410G>A	ENST00000417133.2	-	4	359	c.174C>T	c.(172-174)gtC>gtT	p.V58V	ERG_ENST00000398911.1_Silent_p.V58V|ERG_ENST00000453032.2_Intron|ERG_ENST00000442448.1_Silent_p.V58V|ERG_ENST00000398910.1_Silent_p.V58V|ERG_ENST00000398897.1_Intron|ERG_ENST00000429727.2_Silent_p.V51V|ERG_ENST00000398907.1_Silent_p.V51V|ERG_ENST00000398919.2_Silent_p.V58V|ERG_ENST00000288319.7_Silent_p.V51V|ERG_ENST00000398905.1_Silent_p.V51V	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCTGCTGAGGGACGCGTGGGC	0.562			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(172-174)gtC>gtT		v-ets avian erythroblastosis virus E26 oncogene homolog							110.0	89.0	96.0					21																	39817410		2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39817410G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.174C>T	21.37:g.39817410G>A						ERG_ENST00000429727.2_Silent_p.V51V|ERG_ENST00000398911.1_Silent_p.V58V|ERG_ENST00000398919.2_Silent_p.V58V|ERG_ENST00000398907.1_Silent_p.V51V|ERG_ENST00000417133.2_Silent_p.V58V|ERG_ENST00000398910.1_Silent_p.V58V|ERG_ENST00000398897.1_Intron|ERG_ENST00000288319.7_Silent_p.V51V|ERG_ENST00000398905.1_Silent_p.V51V|ERG_ENST00000453032.2_Intron	p.V58V	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			4	445	-		Prostate(19;3.6e-06)	58					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.174C>T	CCDS46648.1																																																																																				0.562	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		8	65	0	0	0	1	0	8	65				
CASZ1	54897	broad.mit.edu	37	1	10699541	10699541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr1:10699541delG	ENST00000377022.3	-	21	5055	c.4738delC	c.(4738-4740)cacfs	p.H1580fs	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1580					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACCACCGTGTGGCGGCAGCCC	0.697																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(4738-4740)acfs		castor zinc finger 1							17.0	26.0	23.0					1																	10699541		2081	4197	6278	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699541delG	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4738delC	1.37:g.10699541delG	ENSP00000366221:p.His1580fs					RP4-734G22.3_ENST00000606802.1_RNA	p.H1580fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	5055	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1580					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.4738delC	CCDS41246.1																																																																																				0.697	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		2	4						2	4	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	lincRNA	DEL	CACACA	CACACA	-	rs61579002|rs398051454|rs7650195	byFrequency	TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544																																						ENST00000497896.1																			0																																																			10225							g.chr3:111197863_111197868delCACACA																													3.37:g.111197869_111197874delCACACA														0	208	-									RNA	DEL	ENST00000497896.1	37																																																																																						0.544	RP11-615J4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000354056.1			3	3						3	3	---	---	---	---
C2CD4B	388125	broad.mit.edu	37	15	62456957	62456957	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr15:62456957delG	ENST00000380392.3	-	2	355	c.227delC	c.(226-228)acgfs	p.T76fs		NM_001007595.2	NP_001007596.2	A6NLJ0	C2C4B_HUMAN	C2 calcium-dependent domain containing 4B	76						focal adhesion (GO:0005925)|nucleolus (GO:0005730)				skin(1)	1						GTCCCAGTCCGTGCGGCCGGC	0.751																																						ENST00000380392.3																			0				skin(1)	1						c.(226-228)agfs		C2 calcium-dependent domain containing 4B																																				SO:0001589	frameshift_variant	388125					nucleus		g.chr15:62456957delG	BM023530	CCDS32259.1	15q22.2	2009-09-28	2009-09-28	2009-09-28					33628	protein-coding gene	gene with protein product	"""nuclear localized factor 2"""	610344	"""family with sequence similarity 148, member B"""	FAM148B			Standard	NM_001007595		Approved	NLF2	uc002ahg.2	A6NLJ0		ENST00000380392.3:c.227delC	15.37:g.62456957delG	ENSP00000369755:p.Thr76fs						p.T76fs	NM_001007595.2	NP_001007596.2	A6NLJ0	C2C4B_HUMAN			2	355	-			76						Frame_Shift_Del	DEL	ENST00000380392.3	37	c.227delC	CCDS32259.1																																																																																				0.751	C2CD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416117.1	NM_001007595		2	4						2	4	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-RW-A67W-01A-11D-A35D-08	TCGA-RW-A67W-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2802760-5ae5-4aa6-8221-6410cfd3fe5f	962810ca-3ae8-4c48-ac0b-aba7aea29b12	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			103504731							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				8	8						8	8	---	---	---	---
