#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
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	75	0	0	0	1	0	5	75				
THBS4	7060	broad.mit.edu	37	5	79366954	79366954	+	Silent	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr5:79366954C>T	ENST00000350881.2	+	13	1861	c.1671C>T	c.(1669-1671)acC>acT	p.T557T	THBS4_ENST00000511733.1_Silent_p.T466T|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	557					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGAAAGACACCGATGGGGATG	0.418																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1669-1671)acC>acT		thrombospondin 4							276.0	266.0	269.0					5																	79366954		2203	4300	6503	SO:0001819	synonymous_variant	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79366954C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1671C>T	5.37:g.79366954C>T						CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.T466T	p.T557T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	13	1861	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	557					B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	c.1671C>T	CCDS4049.1																																																																																				0.418	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			60	117	0	0	0	1	0	60	117				
MGLL	11343	broad.mit.edu	37	3	127500647	127500647	+	Missense_Mutation	SNP	A	A	G	rs371613630		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr3:127500647A>G	ENST00000434178.2	-	3	1113	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L	MGLL_ENST00000265052.5_Missense_Mutation_p.F83L|MGLL_ENST00000398104.1_Missense_Mutation_p.F73L|MGLL_ENST00000453507.2_Missense_Mutation_p.F83L			Q99685	MGLL_HUMAN	monoglyceride lipase	73					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TCGTGGGCGAACACCAGCAGG	0.607																																						ENST00000434178.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(217-219)Ttc>Ctc		monoglyceride lipase		A	LEU/PHE,LEU/PHE	0,4246		0,0,2123	58.0	65.0	63.0		217,247	5.2	0.9	3		63	1,8447		0,1,4223	no	missense,missense	MGLL	NM_001003794.1,NM_007283.5	22,22	0,1,6346	GG,GA,AA		0.0118,0.0,0.0079	probably-damaging,probably-damaging	73/304,83/314	127500647	1,12693	2123	4224	6347	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127500647A>G	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.217T>C	3.37:g.127500647A>G	ENSP00000402798:p.Phe73Leu					MGLL_ENST00000453507.2_Missense_Mutation_p.F83L|MGLL_ENST00000398104.1_Missense_Mutation_p.F73L|MGLL_ENST00000265052.5_Missense_Mutation_p.F83L	p.F73L			Q99685	MGLL_HUMAN			3	1113	-			73					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.217T>C	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274035	0.80580	0.0	1.18E-4	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000536024;ENST00000453507;ENST00000493611;ENST00000494830	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;1.12	5.19	5.19	0.71726	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.47078	1.49	0.58432	D	0.999999	D;D;D;D	0.69078	0.98;0.995;0.996;0.997	P;D;D;D	0.67900	0.901;0.954;0.954;0.954	T	0.71790	-0.4486	10	0.52906	T	0.07	-4.9828	11.4455	0.50120	1.0:0.0:0.0:0.0	.	83;73;73;83	B7Z9D1;B2ZGL7;Q99685;B3KRC2	.;.;MGLL_HUMAN;.	L	73;83;73;83;83;10;73	ENSP00000402798:F73L;ENSP00000265052:F83L;ENSP00000381176:F73L;ENSP00000417689:F10L;ENSP00000417489:F73L	ENSP00000265052:F83L	F	-	1	0	MGLL	128983337	1.000000	0.71417	0.921000	0.36526	0.412000	0.31113	7.501000	0.81600	1.953000	0.56701	0.383000	0.25322	TTC		0.607	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		11	37	0	0	0	1	0	11	37				
REM2	161253	broad.mit.edu	37	14	23354496	23354496	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr14:23354496T>C	ENST00000267396.4	+	3	590	c.467T>C	c.(466-468)aTc>aCc	p.I156T	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	156					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GAGAGACGCATCATGGTGGAT	0.488																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(466-468)aTc>aCc		RAS (RAD and GEM)-like GTP binding 2							145.0	132.0	136.0					14																	23354496		1958	4154	6112	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354496T>C		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.467T>C	14.37:g.23354496T>C	ENSP00000267396:p.Ile156Thr					REM2_ENST00000536884.1_Intron	p.I156T	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	3	590	+	all_cancers(95;4.69e-05)		156					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.467T>C	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573769	0.65765	.	.	ENSG00000139890	ENST00000267396	D	0.81659	-1.52	5.26	5.26	0.73747	.	0.252517	0.38058	N	0.001827	T	0.77948	0.4207	L	0.52759	1.655	0.80722	D	1	P	0.45126	0.851	B	0.42593	0.392	T	0.80279	-0.1449	10	0.54805	T	0.06	.	14.457	0.67423	0.0:0.0:0.0:1.0	.	156	Q8IYK8	REM2_HUMAN	T	156	ENSP00000267396:I156T	ENSP00000267396:I156T	I	+	2	0	REM2	22424336	0.931000	0.31567	1.000000	0.80357	0.987000	0.75469	5.958000	0.70330	2.112000	0.64535	0.533000	0.62120	ATC		0.488	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		12	62	0	0	0	1	0	12	62				
ZC3H18	124245	broad.mit.edu	37	16	88691151	88691151	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:88691151G>T	ENST00000301011.5	+	12	2240	c.2040G>T	c.(2038-2040)agG>agT	p.R680S	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R704S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	680	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCCCCCCAGGAGGTGAGCAC	0.662																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(2038-2040)agG>agT		zinc finger CCCH-type containing 18																																				SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88691151G>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2040G>T	16.37:g.88691151G>T	ENSP00000301011:p.Arg680Ser					ZC3H18_ENST00000452588.2_Missense_Mutation_p.R704S	p.R680S	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	12	2240	+			680			Ser-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.2040G>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	8.353	0.831247	0.16820	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.32753	1.44;1.46	5.38	3.41	0.39046	.	0.103006	0.64402	D	0.000007	T	0.46464	0.1394	L	0.54323	1.7	0.40359	D	0.979224	D;D	0.61080	0.989;0.989	D;D	0.75020	0.985;0.985	T	0.47649	-0.9101	10	0.87932	D	0	-29.8136	9.6122	0.39670	0.1606:0.0:0.8394:0.0	.	704;680	E7ERS3;Q86VM9	.;ZCH18_HUMAN	S	680;648;704	ENSP00000301011:R680S;ENSP00000416951:R704S	ENSP00000289509:R648S	R	+	3	2	ZC3H18	87218652	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	2.324000	0.43831	1.264000	0.44198	0.655000	0.94253	AGG		0.662	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		8	8	1	0	2.52707e-12	1	2.67147e-12	8	8				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	74	0	0	0	1	0	5	74				
HPDL	84842	broad.mit.edu	37	1	45793570	45793570	+	Silent	SNP	G	G	A	rs150145508	byFrequency	TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:45793570G>A	ENST00000334815.3	+	1	1026	c.750G>A	c.(748-750)cgG>cgA	p.R250R		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	250					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)	p.R250R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TCCTGGCCCGGCACAAGGGGC	0.662																																						ENST00000334815.3																			1	Substitution - coding silent(1)	p.R250R(1)	kidney(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(748-750)cgG>cgA		4-hydroxyphenylpyruvate dioxygenase-like							57.0	63.0	61.0					1																	45793570		2203	4300	6503	SO:0001819	synonymous_variant	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45793570G>A	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.750G>A	1.37:g.45793570G>A							p.R250R	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	1026	+	Acute lymphoblastic leukemia(166;0.155)		250					B2R9B0	Silent	SNP	ENST00000334815.3	37	c.750G>A	CCDS519.1																																																																																				0.662	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		4	102	0	0	0	1	0	4	102				
SYNE1	23345	broad.mit.edu	37	6	152804276	152804276	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr6:152804276G>C	ENST00000367255.5	-	14	1895	c.1294C>G	c.(1294-1296)Caa>Gaa	p.Q432E	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q439E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q432E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q439E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q432E|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q432E|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q422E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q432E|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q432E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	432					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGACCTGTTGAACGGTTATT	0.483										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(1294-1296)Caa>Gaa		spectrin repeat containing, nuclear envelope 1							291.0	274.0	280.0					6																	152804276		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152804276G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1294C>G	6.37:g.152804276G>C	ENSP00000356224:p.Gln432Glu	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.Q432E|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q432E|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q422E|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q432E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q439E|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q432E|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q439E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q432E	p.Q432E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	14	1895	-		Ovarian(120;0.0955)	432					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.1294C>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733299	0.89482	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.90955	0.67;0.67;0.58;0.67;0.81;-2.15;-2.29;-2.28;-2.56;-2.76	5.87	5.87	0.94306	.	0.116942	0.38663	N	0.001616	D	0.93318	0.7870	M	0.74881	2.28	0.80722	D	1	D;D;P;D;D	0.65815	0.995;0.968;0.927;0.968;0.981	D;P;P;P;P	0.73380	0.98;0.749;0.726;0.749;0.872	D	0.89104	0.3491	10	0.08599	T	0.76	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	415;432;432;432;439	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	E	432;439;432;439;432;432;422;432;432;415	ENSP00000356224:Q432E;ENSP00000396024:Q439E;ENSP00000265368:Q432E;ENSP00000390975:Q439E;ENSP00000341887:Q432E;ENSP00000356222:Q432E;ENSP00000356217:Q422E;ENSP00000414510:Q432E;ENSP00000446021:Q432E;ENSP00000441264:Q415E	ENSP00000265368:Q432E	Q	-	1	0	SYNE1	152845969	1.000000	0.71417	0.982000	0.44146	0.920000	0.55202	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CAA		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		28	99	0	0	0	1	0	28	99				
SLC45A1	50651	broad.mit.edu	37	1	8404029	8404029	+	Missense_Mutation	SNP	G	G	C	rs560191786		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:8404029G>C	ENST00000471889.1	+	9	2588	c.2203G>C	c.(2203-2205)Gac>Cac	p.D735H	SLC45A1_ENST00000289877.8_Missense_Mutation_p.D735H|SLC45A1_ENST00000377479.2_Missense_Mutation_p.D769H			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	735					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCCAGCGACGCTGCAGA	0.632																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(2203-2205)Gac>Cac		solute carrier family 45, member 1							81.0	67.0	72.0					1																	8404029		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8404029G>C	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.2203G>C	1.37:g.8404029G>C	ENSP00000418096:p.Asp735His					SLC45A1_ENST00000377479.2_Missense_Mutation_p.D769H|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D735H	p.D735H			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	9	2588	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	735					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.2203G>C	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984899	0.53934	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.19806	2.14;2.12;2.14	5.1	5.1	0.69264	Major facilitator superfamily domain, general substrate transporter (1);	0.569133	0.18484	N	0.139842	T	0.30417	0.0764	L	0.34521	1.04	0.58432	D	0.999999	P	0.52842	0.956	P	0.54431	0.752	T	0.01829	-1.1265	10	0.45353	T	0.12	-17.4717	17.513	0.87765	0.0:0.0:1.0:0.0	.	735	Q9Y2W3	S45A1_HUMAN	H	735;769;735	ENSP00000418096:D735H;ENSP00000366699:D769H;ENSP00000289877:D735H	ENSP00000289877:D735H	D	+	1	0	SLC45A1	8326616	1.000000	0.71417	0.034000	0.17996	0.032000	0.12392	7.360000	0.79487	2.363000	0.80096	0.555000	0.69702	GAC		0.632	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			8	33	0	0	0	1	0	8	33				
SPTB	6710	broad.mit.edu	37	14	65239641	65239641	+	Missense_Mutation	SNP	C	C	T	rs561976171		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr14:65239641C>T	ENST00000389721.5	-	25	5242	c.5210G>A	c.(5209-5211)cGg>cAg	p.R1737Q	SPTB_ENST00000556626.1_Missense_Mutation_p.R1737Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1737Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737Q|SPTB_ENST00000389722.3_Missense_Mutation_p.R1737Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1737					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCGGTCTCCCGGGCAAAGTC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18643	0.001		0.0	False		,,,				2504	0.0					ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5209-5211)cGg>cAg		spectrin, beta, erythrocytic							21.0	23.0	22.0					14																	65239641		2202	4299	6501	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65239641C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5210G>A	14.37:g.65239641C>T	ENSP00000374371:p.Arg1737Gln					SPTB_ENST00000556626.1_Missense_Mutation_p.R1737Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1737Q|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737Q|SPTB_ENST00000389721.5_Missense_Mutation_p.R1737Q	p.R1737Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	25	5263	-		all_lung(585;4.15e-09)	1737					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.5210G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698999	0.88830	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	L	0.58354	1.805	0.80722	D	1	P;D;P	0.60575	0.787;0.988;0.941	B;P;B	0.52710	0.343;0.707;0.365	T	0.61377	-0.7075	10	0.59425	D	0.04	.	17.8889	0.88865	0.0:1.0:0.0:0.0	.	521;1737;1741	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Q	1741;1737;521;402;1737;1737;1737;1737	ENSP00000374372:R1737Q;ENSP00000451324:R402Q;ENSP00000451752:R1737Q;ENSP00000374371:R1737Q;ENSP00000443882:R1737Q;ENSP00000374370:R1737Q	ENSP00000334218:R521Q	R	-	2	0	SPTB	64309394	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.941000	0.63540	2.595000	0.87683	0.561000	0.74099	CGG		0.627	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			11	12	0	0	0	1	0	11	12				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	52	0	0	0	1	0	3	52				
NPR1	4881	broad.mit.edu	37	1	153661480	153661480	+	Silent	SNP	C	C	T	rs145546823	byFrequency	TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:153661480C>T	ENST00000368680.3	+	16	2941	c.2469C>T	c.(2467-2469)taC>taT	p.Y823Y		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	823					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGAGCAGTACGCGAACAATC	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		18694	0.0		0.001	False		,,,				2504	0.001				Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2467-2469)taC>taT		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	C		0,4406		0,0,2203	144.0	127.0	133.0		2469	-4.9	0.7	1	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPR1	NM_000906.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		823/1062	153661480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153661480C>T	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2469C>T	1.37:g.153661480C>T							p.Y823Y	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2941	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		823					B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.2469C>T	CCDS1051.1																																																																																				0.622	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		32	74	0	0	0	1	0	32	74				
MYH8	4626	broad.mit.edu	37	17	10305040	10305040	+	Missense_Mutation	SNP	T	T	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:10305040T>A	ENST00000403437.2	-	23	2845	c.2751A>T	c.(2749-2751)caA>caT	p.Q917H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	917					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGCCTCAAGTTGGATTTTGT	0.428									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2749-2751)caA>caT		myosin, heavy chain 8, skeletal muscle, perinatal							298.0	290.0	293.0					17																	10305040		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10305040T>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2751A>T	17.37:g.10305040T>A	ENSP00000384330:p.Gln917His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.Q917H	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			23	2845	-			917					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2751A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.905549	0.33628	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.91180	-2.8	5.29	3.29	0.37713	.	0.000000	0.39544	U	0.001322	D	0.90487	0.7020	M	0.89095	3.005	0.44323	D	0.997205	B	0.02656	0.0	B	0.06405	0.002	D	0.87347	0.2335	10	0.72032	D	0.01	.	8.5766	0.33603	0.0:0.7625:0.0:0.2375	.	917	P13535	MYH8_HUMAN	H	917	ENSP00000384330:Q917H	ENSP00000252173:Q917H	Q	-	3	2	MYH8	10245765	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.885000	0.28227	0.786000	0.33708	-0.462000	0.05337	CAA		0.428	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		7	163	0	0	0	1	0	7	163				
OR6X1	390260	broad.mit.edu	37	11	123624320	123624320	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr11:123624320T>C	ENST00000327930.2	-	1	933	c.907A>G	c.(907-909)Atg>Gtg	p.M303V		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGGCAAGTCATTGCCTTTCTT	0.398																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(907-909)Atg>Gtg		olfactory receptor, family 6, subfamily X, member 1							133.0	143.0	139.0					11																	123624320		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624320T>C	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.907A>G	11.37:g.123624320T>C	ENSP00000333724:p.Met303Val						p.M303V	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	933	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	303					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.907A>G	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.170196	0.00315	.	.	ENSG00000221931	ENST00000327930	T	0.36157	1.27	3.82	2.69	0.31865	.	.	.	.	.	T	0.15349	0.0370	N	0.11023	0.085	0.21878	N	0.999493	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	-0.2177	7.0749	0.25199	0.0:0.1116:0.0:0.8884	.	303	Q8NH79	OR6X1_HUMAN	V	303	ENSP00000333724:M303V	ENSP00000333724:M303V	M	-	1	0	OR6X1	123129530	0.353000	0.24904	0.220000	0.23810	0.557000	0.35523	0.903000	0.28475	0.558000	0.29135	0.528000	0.53228	ATG		0.398	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		55	126	0	0	0	1	0	55	126				
TTN	7273	broad.mit.edu	37	2	179425802	179425802	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr2:179425802C>T	ENST00000591111.1	-	276	80358	c.80134G>A	c.(80134-80136)Gag>Aag	p.E26712K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19413K|TTN_ENST00000460472.2_Missense_Mutation_p.E19288K|TTN_ENST00000589042.1_Missense_Mutation_p.E28353K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25785K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19480K			Q8WZ42	TITIN_HUMAN	titin	26712					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGGAGGCTCAACATCATCT	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(85057-85059)Gag>Aag		titin							142.0	139.0	140.0					2																	179425802		1918	4120	6038	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425802C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80134G>A	2.37:g.179425802C>T	ENSP00000465570:p.Glu26712Lys					TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26712K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19288K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19413K|TTN_ENST00000342992.6_Missense_Mutation_p.E25785K|TTN_ENST00000342175.6_Missense_Mutation_p.E19480K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.E28353K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	85281	-			26712			Fibronectin type-III 106.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85057G>A		.	.	.	.	.	.	.	.	.	.	C	17.15	3.316770	0.60524	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.97	5.97	0.96955	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.50137	0.1598	L	0.50333	1.59	0.58432	D	0.999999	P;P;P;P	0.43094	0.799;0.799;0.799;0.799	B;B;B;B	0.35931	0.214;0.214;0.214;0.214	T	0.56757	-0.7926	9	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	19288;19413;19480;26712	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25785;19288;19480;19413;19286	ENSP00000343764:E25785K;ENSP00000434586:E19288K;ENSP00000340554:E19480K;ENSP00000352154:E19413K	ENSP00000340554:E19480K	E	-	1	0	TTN	179134048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	GAG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	90	0	0	0	1	0	48	90				
PLXND1	23129	broad.mit.edu	37	3	129279278	129279278	+	Splice_Site	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr3:129279278C>T	ENST00000324093.4	-	31	5207		c.e31-1		PLXND1_ENST00000393239.1_Splice_Site	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAGGCAGCACCTGGGAGGCCG	0.652																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.e31-1		plexin D1							50.0	43.0	45.0					3																	129279278		2203	4300	6503	SO:0001630	splice_region_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129279278C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5029-1G>A	3.37:g.129279278C>T						PLXND1_ENST00000324093.4_Splice_Site				Q9Y4D7	PLXD1_HUMAN			31	5207	-								A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Splice_Site	SNP	ENST00000324093.4	37		CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884760	0.33255	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000506979	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9837	0.89150	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLXND1	130761968	1.000000	0.71417	0.993000	0.49108	0.267000	0.26476	5.751000	0.68720	2.244000	0.73946	0.462000	0.41574	.		0.652	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	Intron	4	14	0	0	0	1	0	4	14				
RP1	6101	broad.mit.edu	37	8	55541954	55541954	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr8:55541954C>T	ENST00000220676.1	+	4	5660	c.5512C>T	c.(5512-5514)Cgc>Tgc	p.R1838C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1838					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTGGATGTTCGCAATGAAAC	0.423																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5512-5514)Cgc>Tgc		retinitis pigmentosa 1 (autosomal dominant)							94.0	87.0	89.0					8																	55541954		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541954C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5512C>T	8.37:g.55541954C>T	ENSP00000220676:p.Arg1838Cys						p.R1838C	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5660	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1838						Missense_Mutation	SNP	ENST00000220676.1	37	c.5512C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	7.000	0.554598	0.13436	.	.	ENSG00000104237	ENST00000220676	T	0.44881	0.91	5.83	3.01	0.34805	.	0.506639	0.16231	N	0.223614	T	0.28830	0.0715	L	0.29908	0.895	0.09310	N	1	P	0.34934	0.476	B	0.30646	0.118	T	0.12116	-1.0560	10	0.87932	D	0	.	9.3662	0.38226	0.4305:0.5015:0.0:0.0679	.	1838	P56715	RP1_HUMAN	C	1838	ENSP00000220676:R1838C	ENSP00000220676:R1838C	R	+	1	0	RP1	55704507	0.000000	0.05858	0.010000	0.14722	0.001000	0.01503	0.052000	0.14163	0.354000	0.24105	-0.890000	0.02929	CGC		0.423	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		17	25	0	0	0	1	0	17	25				
JAG1	182	broad.mit.edu	37	20	10620426	10620426	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr20:10620426A>G	ENST00000254958.5	-	26	3892	c.3377T>C	c.(3376-3378)aTt>aCt	p.I1126T	JAG1_ENST00000423891.2_Missense_Mutation_p.I967T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1126					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATGTTTCTCAATGGGGTTTTT	0.512									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3376-3378)aTt>aCt		jagged 1							128.0	121.0	123.0					20																	10620426		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620426A>G	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3377T>C	20.37:g.10620426A>G	ENSP00000254958:p.Ile1126Thr					JAG1_ENST00000423891.2_Missense_Mutation_p.I967T	p.I1126T	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			26	3892	-			1126					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.3377T>C	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869428	0.51588	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.87412	-2.25;-2.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.89712	0.6794	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	D	0.90959	0.4811	10	0.87932	D	0	.	16.17	0.81801	1.0:0.0:0.0:0.0	.	1126	P78504	JAG1_HUMAN	T	1126;967	ENSP00000254958:I1126T;ENSP00000389519:I967T	ENSP00000254958:I1126T	I	-	2	0	JAG1	10568426	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	8.910000	0.92685	2.279000	0.76181	0.533000	0.62120	ATT		0.512	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		27	45	0	0	0	1	0	27	45				
ACTR3B	57180	broad.mit.edu	37	7	152549245	152549245	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr7:152549245G>A	ENST00000256001.8	+	10	1120	c.986G>A	c.(985-987)aGg>aAg	p.R329K	ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R241K|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R241K	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	329						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACCATGTTCAGGGATTTCGGA	0.592																																						ENST00000256001.8																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(985-987)aGg>aAg		ARP3 actin-related protein 3 homolog B (yeast)							123.0	111.0	115.0					7																	152549245		2203	4300	6503	SO:0001583	missense	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152549245G>A		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.986G>A	7.37:g.152549245G>A	ENSP00000256001:p.Arg329Lys					ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R241K|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R241K	p.R329K	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	10	1120	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	329					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	ENST00000256001.8	37	c.986G>A	CCDS5934.1	.	.	.	.	.	.	.	.	.	.	G	8.526	0.869913	0.17322	.	.	ENSG00000133627	ENST00000256001;ENST00000397282;ENST00000537264	T;T;T	0.07327	3.2;3.2;3.2	5.03	5.03	0.67393	.	0.000000	0.64402	U	0.000007	T	0.02727	0.0082	N	0.00855	-1.145	0.44694	D	0.997684	B	0.02656	0.0	B	0.06405	0.002	T	0.37407	-0.9707	10	0.02654	T	1	-9.6202	16.9778	0.86319	0.0:0.0:1.0:0.0	.	329	Q9P1U1	ARP3B_HUMAN	K	329;241;241	ENSP00000256001:R329K;ENSP00000380452:R241K;ENSP00000446157:R241K	ENSP00000256001:R329K	R	+	2	0	ACTR3B	152180178	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	9.169000	0.94788	2.322000	0.78497	0.557000	0.71058	AGG		0.592	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		22	48	0	0	0	1	0	22	48				
ITGAD	3681	broad.mit.edu	37	16	31434512	31434512	+	Splice_Site	SNP	G	G	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:31434512G>A	ENST00000389202.2	+	24	2907	c.2858G>A	c.(2857-2859)cGt>cAt	p.R953H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	953					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATCGATACCGTGTGAGAGTC	0.512																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.e24+1		integrin, alpha D							74.0	64.0	67.0					16																	31434512		2197	4300	6497	SO:0001630	splice_region_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31434512G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2859+1G>A	16.37:g.31434512G>A							p.R953_splice	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			24	2907	+			953					Q15575|Q15576	Splice_Site	SNP	ENST00000389202.2	37	c.2859_splice	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102434	0.37145	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.50001	0.76	5.59	-2.68	0.06041	Integrin alpha-2 (1);	.	.	.	.	T	0.31670	0.0804	L	0.35487	1.065	0.09310	N	1	B;B	0.24533	0.105;0.105	B;B	0.21546	0.035;0.035	T	0.31641	-0.9936	9	0.59425	D	0.04	.	6.1642	0.20380	0.5311:0.1384:0.3305:0.0	.	969;953	Q59H14;Q13349	.;ITAD_HUMAN	H	969;953	ENSP00000373854:R953H	ENSP00000373854:R953H	R	+	2	0	ITGAD	31342013	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	-1.405000	0.02492	-0.224000	0.09928	-0.143000	0.13931	CGT		0.512	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	Missense_Mutation	13	26	0	0	0	1	0	13	26				
TNRC6C	57690	broad.mit.edu	37	17	76094486	76094486	+	Missense_Mutation	SNP	C	C	G			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:76094486C>G	ENST00000588061.1	+	19	5096	c.4369C>G	c.(4369-4371)Ctg>Gtg	p.L1457V	TNRC6C_ENST00000588847.1_Missense_Mutation_p.L1493V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.L1457V|TNRC6C_ENST00000335749.4_Missense_Mutation_p.L1493V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.L1493V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.L1457V			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1457	Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAAGCCTCTCTGTCTCATGA	0.552																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(4477-4479)Ctg>Gtg		trinucleotide repeat containing 6C							62.0	68.0	66.0					17																	76094486		2022	4190	6212	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76094486C>G	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4369C>G	17.37:g.76094486C>G	ENSP00000468647:p.Leu1457Val					TNRC6C_ENST00000588847.1_Missense_Mutation_p.L1493V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.L1457V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.L1457V|TNRC6C_ENST00000588061.1_Missense_Mutation_p.L1457V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.L1493V	p.L1493V	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		18	5046	+			1457			Sufficient for translational repression when tethered to a target mRNA.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.4477C>G	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036699	0.75617	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.18174	2.32;2.23;2.23;2.32	5.35	4.39	0.52855	.	0.000000	0.64402	D	0.000001	T	0.34716	0.0907	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.985	T	0.03202	-1.1061	10	0.44086	T	0.13	-7.6345	13.9847	0.64326	0.0:0.9262:0.0:0.0738	.	1493;1457	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	V	1457;1493;1493;1457;1457;1493	ENSP00000336783:L1493V;ENSP00000301624:L1457V;ENSP00000440310:L1457V;ENSP00000442421:L1493V	ENSP00000301624:L1457V	L	+	1	2	TNRC6C	73606081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.748000	0.55142	1.244000	0.43870	0.655000	0.94253	CTG		0.552	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		9	23	0	0	0	1	0	9	23				
TAOK2	9344	broad.mit.edu	37	16	29999004	29999004	+	Silent	SNP	C	C	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:29999004C>T	ENST00000308893.4	+	16	4454	c.3411C>T	c.(3409-3411)ccC>ccT	p.P1137P	TAOK2_ENST00000543033.1_Silent_p.P1024P|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.P964P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1137					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCGTAATCCCCGCACCACCC	0.657																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3409-3411)ccC>ccT		TAO kinase 2							61.0	64.0	63.0					16																	29999004		2197	4300	6497	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29999004C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3411C>T	16.37:g.29999004C>T						TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.P1024P|TAOK2_ENST00000416441.2_Silent_p.P964P	p.P1137P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4454	+			1137					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.3411C>T	CCDS10663.1																																																																																				0.657	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		4	169	0	0	0	1	0	4	169				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	46	0	0	0	1	0	3	46				
ZMYND15	84225	broad.mit.edu	37	17	4643959	4643959	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:4643959G>A	ENST00000433935.1	+	2	173	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ZMYND15_ENST00000269289.6_Missense_Mutation_p.R39H|ZMYND15_ENST00000573751.2_Missense_Mutation_p.R39H|ZMYND15_ENST00000592813.1_Missense_Mutation_p.R39H|CXCL16_ENST00000574412.1_5'Flank|CXCL16_ENST00000293778.6_5'Flank	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	39					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CTTGAGGGCCGCTGCCGGCAG	0.607																																						ENST00000433935.1																			0				endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						c.(115-117)cGc>cAc		zinc finger, MYND-type containing 15							60.0	59.0	60.0					17																	4643959		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4643959G>A	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.116G>A	17.37:g.4643959G>A	ENSP00000391742:p.Arg39His					ZMYND15_ENST00000573751.2_Missense_Mutation_p.R39H|ZMYND15_ENST00000592813.1_Missense_Mutation_p.R39H|ZMYND15_ENST00000269289.6_Missense_Mutation_p.R39H	p.R39H	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN			2	173	+			39					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.116G>A	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	G	9.788	1.177175	0.21787	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.55588	0.52;0.51	5.26	4.25	0.50352	.	0.124563	0.37136	N	0.002221	T	0.37237	0.0996	L	0.27053	0.805	0.31682	N	0.642946	B;B	0.23249	0.082;0.032	B;B	0.15870	0.014;0.004	T	0.46803	-0.9165	10	0.87932	D	0	-7.6463	8.7825	0.34800	0.1091:0.0:0.8909:0.0	.	39;39	B4DXY5;Q9H091	.;ZMY15_HUMAN	H	39	ENSP00000391742:R39H;ENSP00000269289:R39H	ENSP00000269289:R39H	R	+	2	0	ZMYND15	4590708	0.203000	0.23435	0.971000	0.41717	0.225000	0.24961	0.873000	0.28052	1.362000	0.46000	-0.366000	0.07423	CGC		0.607	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		13	14	0	0	0	1	0	13	14				
WDPCP	51057	broad.mit.edu	37	2	63660945	63660945	+	Silent	SNP	G	G	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr2:63660945G>T	ENST00000272321.7	-	9	1286	c.759C>A	c.(757-759)gcC>gcA	p.A253A	WDPCP_ENST00000409199.1_Silent_p.A61A|WDPCP_ENST00000398544.3_Silent_p.A94A|WDPCP_ENST00000409120.1_Silent_p.A61A|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Silent_p.A253A	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	253					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AAGAAATGGGGGCCCAAGGCC	0.423																																						ENST00000409120.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(181-183)gcC>gcA		WD repeat containing planar cell polarity effector							67.0	66.0	66.0					2																	63660945		1890	4114	6004	SO:0001819	synonymous_variant	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63660945G>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.759C>A	2.37:g.63660945G>T						WDPCP_ENST00000409562.3_Silent_p.A253A|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Silent_p.A61A|WDPCP_ENST00000398544.3_Silent_p.A94A|WDPCP_ENST00000272321.7_Silent_p.A253A	p.A61A			O95876	FRITZ_HUMAN			3	3733	-			253					Q53RW4|Q7Z2Z3	Silent	SNP	ENST00000272321.7	37	c.183C>A	CCDS42688.1																																																																																				0.423	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		17	33	1	0	5.3912e-06	1	5.54096e-06	17	33				
SEMA6A	57556	broad.mit.edu	37	5	115814379	115814379	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr5:115814379G>A	ENST00000343348.6	-	13	2073	c.1286C>T	c.(1285-1287)gCt>gTt	p.A429V	CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A429V|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A429V|SEMA6A_ENST00000282394.6_5'Flank|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	429	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATATGGCCCAGCAGCTGTGTC	0.408																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1285-1287)gCt>gTt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							76.0	74.0	75.0					5																	115814379		1895	4114	6009	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115814379G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1286C>T	5.37:g.115814379G>A	ENSP00000345512:p.Ala429Val					SEMA6A_ENST00000257414.8_Missense_Mutation_p.A429V|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A429V|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	p.A429V	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	13	2073	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	429			Sema.		Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.1286C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	36	5.719898	0.96839	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	T;T;T	0.23552	1.9;1.9;1.9	6.0	6.0	0.97389	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.048356	0.85682	D	0.000000	T	0.47414	0.1444	L	0.45352	1.415	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.87578	0.998;0.837	T	0.31806	-0.9930	10	0.87932	D	0	.	20.1506	0.98084	0.0:0.0:1.0:0.0	.	429;429	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	V	429	ENSP00000345512:A429V;ENSP00000257414:A429V;ENSP00000424388:A429V	ENSP00000257414:A429V	A	-	2	0	SEMA6A	115842278	1.000000	0.71417	0.981000	0.43875	0.927000	0.56198	9.869000	0.99810	2.864000	0.98301	0.551000	0.68910	GCT		0.408	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		4	34	0	0	0	1	0	4	34				
NBPF3	84224	broad.mit.edu	37	1	21798095	21798095	+	Silent	SNP	A	A	G			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr1:21798095A>G	ENST00000318249.5	+	5	830	c.480A>G	c.(478-480)cgA>cgG	p.R160R	NBPF3_ENST00000454000.2_Silent_p.R90R|NBPF3_ENST00000342104.5_Silent_p.R160R|NBPF3_ENST00000318220.6_Silent_p.R104R	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	160						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCAGGAACGAGAGCTGACCC	0.473																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(310-312)cgA>cgG		neuroblastoma breakpoint family, member 3							118.0	131.0	127.0					1																	21798095		2202	4296	6498	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21798095A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.480A>G	1.37:g.21798095A>G						NBPF3_ENST00000342104.5_Silent_p.R160R|NBPF3_ENST00000454000.2_Silent_p.R90R|NBPF3_ENST00000318249.5_Silent_p.R160R	p.R104R			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	8	1360	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	160					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.312A>G	CCDS216.1																																																																																				0.473	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		4	199	0	0	0	1	0	4	199				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	8	1	0	0.004672	1	0.004672	3	8				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	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.S168S(5)		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)		tgctgctgctgctactgctgc	0.537			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		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(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.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>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.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	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	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	41	0	0	0	1	0	4	41				
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			0							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			4	5						4	5	---	---	---	---
OMP	4975	broad.mit.edu	37	11	76814332	76814351	+	Frame_Shift_Del	DEL	GGAGCCCGCCAACCTCAAGG	GGAGCCCGCCAACCTCAAGG	-	rs574557269|rs373329512		TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr11:76814332_76814351delGGAGCCCGCCAACCTCAAGG	ENST00000529803.1	+	1	447_466	c.447_466delGGAGCCCGCCAACCTCAAGG	c.(445-468)gtggagcccgccaacctcaaggccfs	p.EPANLKA150fs	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	150					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCGAGGGTGTGGAGCCCGCCAACCTCAAGGCCTCCGTGGT	0.614																																						ENST00000529803.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(445-468)gtccfs		olfactory marker protein																																				SO:0001589	frameshift_variant	4975				sensory perception of smell|synaptic transmission			g.chr11:76814332_76814351delGGAGCCCGCCAACCTCAAGG	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.447_466delGGAGCCCGCCAACCTCAAGG	11.37:g.76814332_76814351delGGAGCCCGCCAACCTCAAGG	ENSP00000436376:p.Glu150fs					CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron	p.VEPANLKA149fs	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN			1	447_466	+			149					Q562G2	Frame_Shift_Del	DEL	ENST00000529803.1	37	c.447_466delGGAGCCCGCCAACCTCAAGG	CCDS53682.1																																																																																				0.614	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		12	58						12	58	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														0							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA														0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		4	3						4	3	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128624063	128624064	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2A-AAYO-01A-11D-A41K-08	TCGA-2A-AAYO-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f519e32d-0ee8-4f58-975c-3d717fb4e774	441ada11-8a1f-40e6-8c6e-6ba3b7c22b4b	g.chrX:128624063_128624064insT	ENST00000371122.4	-	15	2050_2051	c.1921_1922insA	c.(1921-1923)agafs	p.R641fs	SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.R629fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.R629fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	641	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGAATCGAGTCTCAGTTTTATC	0.342																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1921-1923)actfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1																																				SO:0001589	frameshift_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128624063_128624064insT	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1922dupA	X.37:g.128624064_128624064dupT	ENSP00000360163:p.Arg641fs					SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.T629fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.T629fs	p.T641fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			15	2050_2051	-			641			Helicase C-terminal.		Q5JV41|Q5JV42	Frame_Shift_Ins	INS	ENST00000371122.4	37	c.1921_1922insA	CCDS14612.1																																																																																				0.342	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		25	12						25	12	---	---	---	---
