#version 2.4
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## 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
KDM5B	10765	broad.mit.edu	37	1	202727567	202727567	+	Silent	SNP	C	C	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:202727567C>A	ENST00000367265.3	-	9	2313	c.1149G>T	c.(1147-1149)ggG>ggT	p.G383G	KDM5B_ENST00000367264.2_Silent_p.G419G|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	383					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCCATTTCCCCAAAAGTAC	0.378																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1147-1149)ggG>ggT		lysine (K)-specific demethylase 5B							121.0	103.0	109.0					1																	202727567		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202727567C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1149G>T	1.37:g.202727567C>A						KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Silent_p.G419G	p.G383G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			9	2313	-			383					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.1149G>T	CCDS30974.1																																																																																				0.378	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		11	21	1	0	0.00010058	1	0.000108962	11	21				
ITPR3	3710	broad.mit.edu	37	6	33638466	33638466	+	Silent	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr6:33638466C>T	ENST00000374316.5	+	21	3520	c.2460C>T	c.(2458-2460)aaC>aaT	p.N820N	ITPR3_ENST00000605930.1_Silent_p.N820N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	820					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCAACCTCAACGCGTCCCGAG	0.587																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2458-2460)aaC>aaT		inositol 1,4,5-trisphosphate receptor, type 3							135.0	108.0	117.0					6																	33638466		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33638466C>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2460C>T	6.37:g.33638466C>T						ITPR3_ENST00000605930.1_Silent_p.N820N	p.N820N			Q14573	ITPR3_HUMAN			21	3520	+			820					Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.2460C>T	CCDS4783.1																																																																																				0.587	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		4	33	0	0	0	1	0	4	33				
F2RL1	2150	broad.mit.edu	37	5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	340					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGCTGCATCGACCCCTTTGT	0.473																																						ENST00000296677.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(1018-1020)Gac>Aac		coagulation factor II (thrombin) receptor-like 1							370.0	362.0	365.0					5																	76129450		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129450G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1018G>A	5.37:g.76129450G>A	ENSP00000296677:p.Asp340Asn						p.D340N	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1224	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	340					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1018G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322223	0.95708	.	.	ENSG00000164251	ENST00000296677	T	0.53857	0.6	5.62	5.62	0.85841	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72010	-0.4419	9	.	.	.	-37.5292	19.6481	0.95790	0.0:0.0:1.0:0.0	.	340	P55085	PAR2_HUMAN	N	340	ENSP00000296677:D340N	.	D	+	1	0	F2RL1	76165206	1.000000	0.71417	0.960000	0.40013	0.960000	0.62799	9.808000	0.99193	2.644000	0.89710	0.655000	0.94253	GAC		0.473	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			30	332	0	0	0	1	0	30	332				
C4BPA	722	broad.mit.edu	37	1	207288791	207288791	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:207288791G>A	ENST00000367070.3	+	4	553	c.359G>A	c.(358-360)cGt>cAt	p.R120H		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	120	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GGAGAGTTACGTAATGGGCAA	0.363																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(358-360)cGt>cAt		complement component 4 binding protein, alpha							102.0	100.0	101.0					1																	207288791		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207288791G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.359G>A	1.37:g.207288791G>A	ENSP00000356037:p.Arg120His						p.R120H	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			4	553	+			120			Sushi 2.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.359G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	7.831	0.719741	0.15372	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.64991	-0.13;-0.13	5.14	-5.75	0.02384	Complement control module (2);Sushi/SCR/CCP (3);	2.212360	0.01613	N	0.022602	T	0.36880	0.0983	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12293	-1.0553	10	0.41790	T	0.15	.	1.3062	0.02089	0.3714:0.145:0.3095:0.174	.	120	P04003	C4BPA_HUMAN	H	120	ENSP00000356037:R120H;ENSP00000403386:R120H	ENSP00000356037:R120H	R	+	2	0	C4BPA	205355414	0.000000	0.05858	0.057000	0.19452	0.196000	0.23810	-1.063000	0.03465	-0.613000	0.05694	-0.204000	0.12730	CGT		0.363	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			13	20	0	0	0	1	0	13	20				
ZNF479	90827	broad.mit.edu	37	7	57188689	57188689	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:57188689C>T	ENST00000331162.4	-	5	703	c.433G>A	c.(433-435)Gtt>Att	p.V145I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATTGGTTAACTTCACTATAA	0.313																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(433-435)Gtt>Att		zinc finger protein 479							101.0	93.0	96.0					7																	57188689		1860	4116	5976	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188689C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.433G>A	7.37:g.57188689C>T	ENSP00000333776:p.Val145Ile						p.V145I	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	703	-			145						Missense_Mutation	SNP	ENST00000331162.4	37	c.433G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	2.517	-0.311611	0.05422	.	.	ENSG00000185177	ENST00000331162	T	0.48201	0.82	1.29	-2.58	0.06228	.	.	.	.	.	T	0.24699	0.0599	N	0.20986	0.625	0.09310	N	1	B	0.34372	0.451	B	0.30179	0.112	T	0.06356	-1.0831	9	0.37606	T	0.19	.	2.8886	0.05669	0.4324:0.2542:0.3134:0.0	.	145	Q96JC4	ZN479_HUMAN	I	145	ENSP00000333776:V145I	ENSP00000333776:V145I	V	-	1	0	ZNF479	57192631	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.077000	0.03416	-1.682000	0.01446	-1.934000	0.00508	GTT		0.313	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		42	72	0	0	0	1	0	42	72				
OR4K1	79544	broad.mit.edu	37	14	20404020	20404020	+	Silent	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr14:20404020T>C	ENST00000285600.4	+	1	254	c.195T>C	c.(193-195)aaT>aaC	p.N65N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGCTCAGTAATCTTTCTTTCA	0.383																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(193-195)aaT>aaC		olfactory receptor, family 4, subfamily K, member 1							270.0	284.0	279.0					14																	20404020		2203	4300	6503	SO:0001819	synonymous_variant	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404020T>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.195T>C	14.37:g.20404020T>C							p.N65N	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	254	+	all_cancers(95;0.00108)		65					B9EKV9|Q8NGD6|Q96R73	Silent	SNP	ENST00000285600.4	37	c.195T>C	CCDS32025.1																																																																																				0.383	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			6	299	0	0	0	1	0	6	299				
DIAPH1	1729	broad.mit.edu	37	5	140960428	140960428	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr5:140960428T>C	ENST00000398557.4	-	8	847	c.707A>G	c.(706-708)gAg>gGg	p.E236G	DIAPH1_ENST00000253811.6_Missense_Mutation_p.E236G|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E227G|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E227G|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E227G|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E182G|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E236G|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E227G	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	236	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCTGTCTCCAACATGGT	0.453																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(706-708)gAg>gGg		diaphanous-related formin 1							81.0	77.0	78.0					5																	140960428		1913	4125	6038	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140960428T>C	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.707A>G	5.37:g.140960428T>C	ENSP00000381565:p.Glu236Gly					DIAPH1_ENST00000398566.3_Missense_Mutation_p.E227G|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E236G|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E227G|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E182G|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E227G|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E236G|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E227G	p.E236G			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	847	-			236			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.707A>G	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.369971	0.24771	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.53	5.53	0.82687	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.152448	0.41500	D	0.000872	T	0.75708	0.3886	N	0.12746	0.255	0.37625	D	0.92146	B;B	0.29432	0.202;0.244	B;B	0.36289	0.169;0.221	T	0.72523	-0.4267	10	0.12430	T	0.62	.	9.2156	0.37344	0.0:0.0824:0.0:0.9176	.	227;236	E9PEZ2;O60610	.;DIAP1_HUMAN	G	236;182;227;227;227;236;236;227	ENSP00000373706:E236G;ENSP00000429282:E182G;ENSP00000381570:E227G;ENSP00000373709:E227G;ENSP00000381572:E227G;ENSP00000381565:E236G;ENSP00000253811:E236G;ENSP00000428268:E227G	ENSP00000253811:E236G	E	-	2	0	DIAPH1	140940612	0.992000	0.36948	0.990000	0.47175	0.944000	0.59088	1.851000	0.39338	2.107000	0.64212	0.454000	0.30748	GAG		0.453	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		11	20	0	0	0	1	0	11	20				
PRKCSH	5589	broad.mit.edu	37	19	11546952	11546952	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:11546952T>C	ENST00000589838.1	+	1	14	c.14T>C	c.(13-15)cTg>cCg	p.L5P	CCDC151_ENST00000591179.1_5'Flank|CCDC151_ENST00000356392.4_5'Flank|PRKCSH_ENST00000592741.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000412601.1_Missense_Mutation_p.L5P|CCDC151_ENST00000545100.1_5'Flank|PRKCSH_ENST00000587327.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000252455.2_Missense_Mutation_p.L5P|CCDC151_ENST00000586836.1_5'Flank|PRKCSH_ENST00000591462.1_Missense_Mutation_p.L5P			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	5					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ctgttgccgctgctgctgctg	0.647											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(13-15)cTg>cCg		protein kinase C substrate 80K-H							27.0	24.0	25.0					19																	11546952		2203	4298	6501	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11546952T>C		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.14T>C	19.37:g.11546952T>C	ENSP00000465461:p.Leu5Pro		OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	PRKCSH_ENST00000591462.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000587327.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000412601.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000589838.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000592741.1_Missense_Mutation_p.L5P	p.L5P	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			2	350	+			5					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.14T>C	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	T	5.657	0.305877	0.10733	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.77750	-1.09;-1.12	2.5	-3.94	0.04130	.	0.173879	0.38492	N	0.001677	T	0.67627	0.2913	M	0.70275	2.135	0.58432	D	0.999992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.41645	-0.9497	10	0.52906	T	0.07	-5.8268	4.7633	0.13118	0.0:0.2459:0.17:0.5841	.	5;5;5	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	P	5	ENSP00000252455:L5P;ENSP00000395616:L5P	ENSP00000252455:L5P	L	+	2	0	PRKCSH	11407952	0.913000	0.31002	0.001000	0.08648	0.027000	0.11550	1.637000	0.37155	-1.058000	0.03197	0.402000	0.26972	CTG		0.647	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			3	9	0	0	0	1	0	3	9				
SPTBN4	57731	broad.mit.edu	37	19	41007853	41007853	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:41007853G>C	ENST00000352632.3	+	8	896	c.810G>C	c.(808-810)gaG>gaC	p.E270D	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E270D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E270D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E270D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	270	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCAGATGAGAAGTCCATCA	0.507																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(808-810)gaG>gaC		spectrin, beta, non-erythrocytic 4							163.0	160.0	161.0					19																	41007853		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41007853G>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.810G>C	19.37:g.41007853G>C	ENSP00000263373:p.Glu270Asp					SPTBN4_ENST00000595535.1_Missense_Mutation_p.E270D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E270D	p.E270D			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		8	896	+			270			Actin-binding.|CH 2.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.810G>C	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262672	0.59431	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.63417	-0.04;-0.04;-0.04	3.94	2.91	0.33838	Calponin homology domain (5);	0.107977	0.34531	U	0.003890	T	0.73806	0.3634	M	0.84326	2.69	0.80722	D	1	P;D	0.54772	0.927;0.968	P;P	0.61592	0.741;0.891	T	0.75010	-0.3468	10	0.52906	T	0.07	.	7.6338	0.28255	0.2005:0.0:0.7995:0.0	.	270;270	Q9H254;Q71S06	SPTN4_HUMAN;.	D	270	ENSP00000263373:E270D;ENSP00000340345:E270D;ENSP00000340741:E270D	ENSP00000340345:E270D	E	+	3	2	SPTBN4	45699693	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.864000	0.27926	2.215000	0.71742	0.467000	0.42956	GAG		0.507	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			45	95	0	0	0	1	0	45	95				
TNNT3	7140	broad.mit.edu	37	11	1944796	1944796	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:1944796G>A	ENST00000397301.1	+	3	51	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	TNNT3_ENST00000381561.4_Missense_Mutation_p.E15K|TNNT3_ENST00000381558.1_Missense_Mutation_p.E15K|TNNT3_ENST00000381579.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381589.3_Missense_Mutation_p.E15K|TNNT3_ENST00000278317.6_Missense_Mutation_p.E15K|TNNT3_ENST00000381549.3_Missense_Mutation_p.E15K|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000360603.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381548.3_Missense_Mutation_p.E15K|TNNT3_ENST00000397304.2_Intron			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	15					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GCAGTACGAAGAAGAAGGTAA	0.612																																						ENST00000381558.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(43-45)Gaa>Aaa		troponin T type 3 (skeletal, fast)							158.0	120.0	133.0					11																	1944796		2202	4299	6501	SO:0001583	missense	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1944796G>A	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.43G>A	11.37:g.1944796G>A	ENSP00000380468:p.Glu15Lys					TNNT3_ENST00000381549.3_Missense_Mutation_p.E15K|TNNT3_ENST00000397301.1_Missense_Mutation_p.E15K|TNNT3_ENST00000381561.4_Missense_Mutation_p.E15K|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381589.3_Missense_Mutation_p.E15K|TNNT3_ENST00000278317.6_Missense_Mutation_p.E15K|TNNT3_ENST00000381579.3_Missense_Mutation_p.E15K|TNNT3_ENST00000360603.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381548.3_Missense_Mutation_p.E15K	p.E15K			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	4	322	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	15					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.43G>A		.	.	.	.	.	.	.	.	.	.	.	11.36	1.617003	0.28801	.	.	ENSG00000130595	ENST00000278317;ENST00000544980;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301	T;D;T;D;D;D;D;D;D;D;D;D	0.99660	2.68;-6.32;2.73;-6.32;-6.32;-6.32;-6.32;-5.2;-6.32;-6.32;-6.32;-6.32	3.5	2.57	0.30868	.	0.556413	0.17281	N	0.180015	D	0.97885	0.9305	.	.	.	0.36478	D	0.867669	B;B;B;B;B	0.14805	0.011;0.011;0.011;0.011;0.007	B;B;B;B;B	0.16289	0.015;0.003;0.003;0.003;0.001	D	0.99222	1.0879	9	0.34782	T	0.22	-15.9628	7.2149	0.25955	0.1276:0.0:0.8724:0.0	.	15;15;15;15;15	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	K	15	ENSP00000278317:E15K;ENSP00000370973:E15K;ENSP00000370960:E15K;ENSP00000353815:E15K;ENSP00000370961:E15K;ENSP00000371001:E15K;ENSP00000370991:E15K;ENSP00000415614:E15K;ENSP00000370975:E15K;ENSP00000344870:E15K;ENSP00000370970:E15K;ENSP00000380468:E15K	ENSP00000278317:E15K	E	+	1	0	TNNT3	1901372	1.000000	0.71417	0.985000	0.45067	0.213000	0.24496	2.403000	0.44530	0.814000	0.34374	0.491000	0.48974	GAA		0.612	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		14	31	0	0	0	1	0	14	31				
TTN	7273	broad.mit.edu	37	2	179440628	179440628	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:179440628C>T	ENST00000591111.1	-	276	65532	c.65308G>A	c.(65308-65310)Ggt>Agt	p.G21770S	RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14471S|TTN_ENST00000460472.2_Missense_Mutation_p.G14346S|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20843S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14538S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G23411S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21770	Ig-like 114.				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)			ACAAATTTACCGGTATCATAT	0.448																																						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.(70231-70233)Ggt>Agt		titin							128.0	137.0	134.0					2																	179440628		1938	4150	6088	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440628C>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.65308G>A	2.37:g.179440628C>T	ENSP00000465570:p.Gly21770Ser					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14538S|TTN_ENST00000342992.6_Missense_Mutation_p.G20843S|TTN_ENST00000460472.2_Missense_Mutation_p.G14346S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14471S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21770S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.G23411S	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	70455	-			21770			Fibronectin type-III 70.		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.70231G>A		.	.	.	.	.	.	.	.	.	.	C	14.33	2.502367	0.44455	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.76	4.87	0.63330	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90728	0.7090	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.67103	0.949;0.949;0.949;0.927	D	0.93379	0.6742	9	0.87932	D	0	.	17.0297	0.86457	0.0:0.873:0.127:0.0	.	14346;14471;14538;21770	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20843;14346;14538;14471;14344	ENSP00000343764:G20843S;ENSP00000434586:G14346S;ENSP00000340554:G14538S;ENSP00000352154:G14471S	ENSP00000340554:G14538S	G	-	1	0	TTN	179148874	1.000000	0.71417	0.697000	0.30258	0.933000	0.57130	7.818000	0.86416	1.426000	0.47256	0.655000	0.94253	GGT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		50	119	0	0	0	1	0	50	119				
BUB1B	701	broad.mit.edu	37	15	40498485	40498485	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr15:40498485C>T	ENST00000287598.6	+	15	2030	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	BUB1B_ENST00000412359.3_Missense_Mutation_p.A626V	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	612					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTGACTTTGCCAGAGCAGCT	0.428			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(1834-1836)gCc>gTc		BUB1 mitotic checkpoint serine/threonine kinase B							93.0	96.0	95.0					15																	40498485		2203	4300	6503	SO:0001583	missense	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40498485C>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1835C>T	15.37:g.40498485C>T	ENSP00000287598:p.Ala612Val					BUB1B_ENST00000412359.3_Missense_Mutation_p.A626V	p.A612V	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	15	2030	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	612					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.1835C>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	5.094	0.203026	0.09704	.	.	ENSG00000156970	ENST00000287598;ENST00000412359	T;T	0.14893	2.47;2.47	5.51	3.39	0.38822	.	0.261991	0.31821	N	0.007016	T	0.08403	0.0209	N	0.21448	0.665	0.09310	N	0.999997	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.24368	-1.0162	10	0.20519	T	0.43	-1.0017	2.1209	0.03725	0.2378:0.3706:0.0:0.3916	.	626;612	O60566-3;O60566	.;BUB1B_HUMAN	V	612;626	ENSP00000287598:A612V;ENSP00000398470:A626V	ENSP00000287598:A612V	A	+	2	0	BUB1B	38285777	0.977000	0.34250	0.970000	0.41538	0.953000	0.61014	1.719000	0.38011	1.313000	0.45069	0.591000	0.81541	GCC		0.428	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			3	46	0	0	0	1	0	3	46				
AMPD1	270	broad.mit.edu	37	1	115231190	115231190	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:115231190T>G	ENST00000520113.2	-	3	321	c.306A>C	c.(304-306)gaA>gaC	p.E102D	AMPD1_ENST00000369538.3_Missense_Mutation_p.E98D|AMPD1_ENST00000353928.6_Missense_Mutation_p.E69D			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	102					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ACCTCCTGGCTTCTGTGGAGG	0.463																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(292-294)gaA>gaC		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						107.0	104.0	105.0					1																	115231190		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115231190T>G	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.306A>C	1.37:g.115231190T>G	ENSP00000430075:p.Glu102Asp					AMPD1_ENST00000353928.6_Missense_Mutation_p.E69D|AMPD1_ENST00000520113.2_Missense_Mutation_p.E102D	p.E98D	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	341	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	69					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.294A>C	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	8.237	0.806026	0.16467	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.42131	0.98;0.98;0.98	5.92	1.59	0.23543	.	1.922100	0.01988	N	0.045314	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.12066	-1.0562	10	0.13108	T	0.6	-2.1775	3.7604	0.08602	0.2067:0.2303:0.0:0.5629	.	98;69	Q5TF02;P23109	.;AMPD1_HUMAN	D	102;98;69	ENSP00000430075:E102D;ENSP00000358551:E98D;ENSP00000316520:E69D	ENSP00000316520:E69D	E	-	3	2	AMPD1	115032713	0.000000	0.05858	0.199000	0.23439	0.502000	0.33828	-0.388000	0.07352	0.002000	0.14630	0.533000	0.62120	GAA		0.463	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			8	84	0	0	0	1	0	8	84				
ZNF432	9668	broad.mit.edu	37	19	52538169	52538169	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:52538169G>C	ENST00000594154.1	-	5	975	c.763C>G	c.(763-765)Cat>Gat	p.H255D	ZNF432_ENST00000221315.5_Missense_Mutation_p.H255D			O94892	ZN432_HUMAN	zinc finger protein 432	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCTTTTATGAATTCTTTGA	0.378																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(763-765)Cat>Gat		zinc finger protein 432							90.0	96.0	94.0					19																	52538169		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52538169G>C	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.763C>G	19.37:g.52538169G>C	ENSP00000470488:p.His255Asp					ZNF432_ENST00000221315.5_Missense_Mutation_p.H255D	p.H255D			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	975	-		all_neural(266;0.117)	255						Missense_Mutation	SNP	ENST00000594154.1	37	c.763C>G	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999461	0.54147	.	.	ENSG00000256087	ENST00000221315	T	0.67698	-0.28	2.9	1.85	0.25348	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83922	0.5359	H	0.96889	3.9	0.25920	N	0.983121	D	0.62365	0.991	P	0.59595	0.86	T	0.73717	-0.3895	9	0.87932	D	0	.	9.2913	0.37789	0.1245:0.0:0.8755:0.0	.	255	O94892	ZN432_HUMAN	D	255	ENSP00000221315:H255D	ENSP00000221315:H255D	H	-	1	0	ZNF432	57229981	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.327000	0.52045	1.630000	0.50440	0.585000	0.79938	CAT		0.378	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		53	19	0	0	0	1	0	53	19				
FMNL3	91010	broad.mit.edu	37	12	50055824	50055824	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr12:50055824C>T	ENST00000293590.5	-	5	610	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	FMNL3_ENST00000550488.1_Missense_Mutation_p.R126Q|FMNL3_ENST00000335154.5_Missense_Mutation_p.R126Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R126Q			Q8IVF7	FMNL3_HUMAN	formin-like 3	126	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.R126Q(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGAAATTCCCGCACCCACCT	0.527																																						ENST00000335154.5																			1	Substitution - Missense(1)	p.R126Q(1)	lung(1)	breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(376-378)cGg>cAg		formin-like 3							86.0	86.0	86.0					12																	50055824		1928	4135	6063	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50055824C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.377G>A	12.37:g.50055824C>T	ENSP00000293590:p.Arg126Gln					FMNL3_ENST00000550488.1_Missense_Mutation_p.R126Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R126Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.R126Q	p.R126Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			5	610	-			126			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.377G>A		.	.	.	.	.	.	.	.	.	.	C	14.65	2.599990	0.46318	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	4.41	4.41	0.53225	.	0.061573	0.64402	D	0.000009	D	0.89424	0.6711	N	0.21194	0.64	0.58432	D	0.999996	D;D	0.71674	0.998;0.996	D;P	0.72982	0.979;0.661	D	0.87239	0.2265	10	0.23891	T	0.37	.	16.2917	0.82756	0.0:1.0:0.0:0.0	.	126;126	Q8IVF7-2;Q8IVF7-3	.;.	Q	126	ENSP00000335655:R126Q;ENSP00000447479:R126Q;ENSP00000344311:R126Q;ENSP00000293590:R126Q	ENSP00000293590:R126Q	R	-	2	0	FMNL3	48342091	0.391000	0.25221	0.984000	0.44739	0.860000	0.49131	1.562000	0.36353	2.460000	0.83146	0.462000	0.41574	CGG		0.527	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		10	20	0	0	0	1	0	10	20				
TRIM22	10346	broad.mit.edu	37	11	5719736	5719736	+	Silent	SNP	C	C	G	rs376156323		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:5719736C>G	ENST00000379965.3	+	4	988	c.711C>G	c.(709-711)ctC>ctG	p.L237L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	237					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCTCAGATCTCCAGCGGAGGT	0.542																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(709-711)ctC>ctG		tripartite motif containing 22		C	,	1,4029		0,1,2014	53.0	59.0	57.0		699,711	-1.0	0.0	11		57	0,8398		0,0,4199	no	coding-synonymous,coding-synonymous	TRIM22	NM_001199573.1,NM_006074.4	,	0,1,6213	GG,GC,CC		0.0,0.0248,0.0080	,	233/495,237/499	5719736	1,12427	2015	4199	6214	SO:0001819	synonymous_variant	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5719736C>G	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.711C>G	11.37:g.5719736C>G						TRIM5_ENST00000380027.1_Intron	p.L237L	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	4	988	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	237					Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	c.711C>G	CCDS41612.1																																																																																				0.542	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		3	15	0	0	0	1	0	3	15				
HSD3B1	3283	broad.mit.edu	37	1	120056459	120056459	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:120056459A>G	ENST00000369413.3	+	4	458	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	HSD3B1_ENST00000235547.6_Missense_Mutation_p.T107A|HSD3B1_ENST00000528909.1_Missense_Mutation_p.T105A			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	105					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	ATGGACAGGTACCCAGCTCCT	0.507																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(319-321)Acc>Gcc		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						222.0	223.0	223.0					1																	120056459		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056459A>G	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.313A>G	1.37:g.120056459A>G	ENSP00000358421:p.Thr105Ala					HSD3B1_ENST00000528909.1_Missense_Mutation_p.T105A|HSD3B1_ENST00000369413.3_Missense_Mutation_p.T105A	p.T107A	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	458	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	105					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.319A>G	CCDS903.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965470	0.53507	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.92595	-3.07;-3.07;-3.07	3.7	3.7	0.42460	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.89478	3.035	0.58432	D	0.999998	P;B	0.38370	0.628;0.418	P;B	0.47827	0.558;0.369	D	0.93986	0.7262	10	0.72032	D	0.01	-9.9756	10.6104	0.45419	1.0:0.0:0.0:0.0	.	107;105	Q5TDG2;P14060	.;3BHS1_HUMAN	A	105;107;105	ENSP00000358421:T105A;ENSP00000235547:T107A;ENSP00000432268:T105A	ENSP00000235547:T107A	T	+	1	0	HSD3B1	119857982	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.446000	0.90329	1.652000	0.50683	0.402000	0.26972	ACC		0.507	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		5	292	0	0	0	1	0	5	292				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	89	0	0	0	1	0	4	89				
TP53	7157	broad.mit.edu	37	17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C	rs587782082		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr17:7577536T>C	ENST00000269305.4	-	7	934	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000420246.2_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGATGGGCCTCCGGTTCATG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		95	Substitution - Missense(67)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(1)	lung(22)|upper_aerodigestive_tract(10)|urinary_tract(9)|large_intestine(7)|breast(7)|central_nervous_system(5)|biliary_tract(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|endometrium(3)|ovary(3)|soft_tissue(2)|skin(2)|peritoneum(1)|small_intestine(1)|pancreas(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(745-747)Agg>Ggg	Other conserved DNA damage response genes	tumor protein p53							153.0	113.0	126.0					17																	7577536		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577536T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.745A>G	17.37:g.7577536T>C	ENSP00000269305:p.Arg249Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G	p.R249G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	877	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.745A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496716	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.62	-0.0234	0.13943	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.92367	3.3	0.48185	D	0.9996	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;0.999	D;D;D;D;D	0.81914	0.976;0.995;0.99;0.967;0.988	D	0.97987	1.0352	10	0.87932	D	0	-3.0658	12.7443	0.57273	0.0:0.0:0.4175:0.5825	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	G	249;249;249;249;249;249;238;117	ENSP00000410739:R249G;ENSP00000352610:R249G;ENSP00000269305:R249G;ENSP00000398846:R249G;ENSP00000391127:R249G;ENSP00000391478:R249G;ENSP00000425104:R117G	ENSP00000269305:R249G	R	-	1	2	TP53	7518261	0.009000	0.17119	0.995000	0.50966	0.814000	0.46013	0.039000	0.13884	-0.029000	0.13827	-0.648000	0.03929	AGG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	7	0	0	0	1	0	42	7				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	31	0	0	0	1	0	34	31				
HHIPL2	79802	broad.mit.edu	37	1	222715496	222715496	+	Splice_Site	SNP	C	C	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:222715496C>G	ENST00000343410.6	-	3	1034	c.976G>C	c.(976-978)Gtc>Ctc	p.V326L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	326					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCAAGATGACCCTGGAAGAG	0.473																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.e3-1		HHIP-like 2							59.0	56.0	57.0					1																	222715496		2203	4300	6503	SO:0001630	splice_region_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222715496C>G	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.975-1G>C	1.37:g.222715496C>G							p.V326_splice	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	3	1034	-			326					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Splice_Site	SNP	ENST00000343410.6	37	c.974_splice	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	10.43	1.346934	0.24426	.	.	ENSG00000143512	ENST00000343410	T	0.10668	2.85	5.59	1.56	0.23342	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.681506	0.14838	N	0.295444	T	0.12603	0.0306	M	0.69463	2.115	0.25655	N	0.986065	B	0.22146	0.065	B	0.31614	0.133	T	0.27806	-1.0063	10	0.40728	T	0.16	-18.3581	4.2155	0.10531	0.0:0.3454:0.3167:0.3379	.	326	Q6UWX4	HIPL2_HUMAN	L	326	ENSP00000342118:V326L	ENSP00000342118:V326L	V	-	1	0	HHIPL2	220782119	0.981000	0.34729	0.988000	0.46212	0.369000	0.29798	0.394000	0.20834	0.286000	0.22352	0.585000	0.79938	GTC		0.473	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	Missense_Mutation	4	44	0	0	0	1	0	4	44				
TTC30B	150737	broad.mit.edu	37	2	178417043	178417043	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:178417043C>A	ENST00000408939.3	-	1	699	c.449G>T	c.(448-450)gGc>gTc	p.G150V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	150					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCATTCTCGCCCCCACTTTC	0.587																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(448-450)gGc>gTc		tetratricopeptide repeat domain 30B							198.0	219.0	212.0					2																	178417043		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178417043C>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.449G>T	2.37:g.178417043C>A	ENSP00000386181:p.Gly150Val						p.G150V	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	699	-			150					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.449G>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449917	0.01080	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.78595	-1.19	4.51	3.63	0.41609	.	0.203127	0.34932	N	0.003574	T	0.55114	0.1900	N	0.08118	0	0.21499	N	0.999665	B	0.16166	0.016	B	0.10450	0.005	T	0.40175	-0.9577	10	0.23302	T	0.38	.	8.9195	0.35604	0.0:0.6109:0.3071:0.082	.	150	Q8N4P2	TT30B_HUMAN	V	103;150	ENSP00000386181:G150V	ENSP00000386181:G150V	G	-	2	0	TTC30B	178125289	0.017000	0.18338	0.017000	0.16124	0.186000	0.23388	-0.229000	0.09098	1.237000	0.43756	-0.150000	0.13652	GGC		0.587	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		5	208	1	0	0.0293803	1	0.0293803	5	208				
GRM3	2913	broad.mit.edu	37	7	86415600	86415600	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:86415600C>G	ENST00000361669.2	+	3	1591	c.492C>G	c.(490-492)ttC>ttG	p.F164L	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.F162L|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.F36L|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.F164L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	164					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGCGGCTCTTCCAGATCCCTC	0.527																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(490-492)ttC>ttG		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						147.0	158.0	155.0					7																	86415600		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86415600C>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.492C>G	7.37:g.86415600C>G	ENSP00000355316:p.Phe164Leu					AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.F36L|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.F162L|GRM3_ENST00000439827.1_Missense_Mutation_p.F164L	p.F164L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1591	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		164					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.492C>G	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794199	0.70452	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84	5.68	3.89	0.44902	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91408	0.7289	M	0.79011	2.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91444	0.5176	10	0.87932	D	0	.	12.1129	0.53850	0.0:0.8776:0.0:0.1224	.	36;164;164	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	L	164;36;36;164;162	ENSP00000355316:F164L;ENSP00000405427:F36L;ENSP00000441407:F36L;ENSP00000398767:F164L;ENSP00000378209:F162L	ENSP00000355316:F164L	F	+	3	2	GRM3	86253536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.602000	0.36783	0.776000	0.33473	0.655000	0.94253	TTC		0.527	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			41	86	0	0	0	1	0	41	86				
TDO2	6999	broad.mit.edu	37	4	156828909	156828909	+	Missense_Mutation	SNP	T	T	A	rs546231457		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr4:156828909T>A	ENST00000536354.2	+	4	332	c.268T>A	c.(268-270)Ttg>Atg	p.L90M		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		CCTCTGGGAGTTGGATTCTGT	0.338																																					Colon(57;928 1036 2595 6946 26094)	ENST00000536354.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(268-270)Ttg>Atg		tryptophan 2,3-dioxygenase	L-Tryptophan(DB00150)						138.0	138.0	138.0					4																	156828909		2203	4300	6503	SO:0001583	missense	6999				tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	g.chr4:156828909T>A		CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.268T>A	4.37:g.156828909T>A	ENSP00000444788:p.Leu90Met						p.L90M	NM_005651.3	NP_005642.1	P48775	T23O_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	4	332	+	all_hematologic(180;0.24)	Renal(120;0.0854)	90						Missense_Mutation	SNP	ENST00000536354.2	37	c.268T>A	CCDS34086.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824690	0.50739	.	.	ENSG00000151790	ENST00000536354	.	.	.	5.98	0.841	0.18918	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.80028	2.48	0.52099	D	0.999949	P	0.45902	0.868	P	0.44359	0.447	T	0.56547	-0.7961	9	0.66056	D	0.02	-18.5496	6.7915	0.23701	0.1154:0.3968:0.0:0.4878	.	90	P48775	T23O_HUMAN	M	90	.	ENSP00000281525:L90M	L	+	1	2	TDO2	157048359	0.996000	0.38824	0.872000	0.34217	0.987000	0.75469	0.435000	0.21510	-0.061000	0.13110	-0.417000	0.06048	TTG		0.338	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366209.3	NM_005651		8	57	0	0	0	1	0	8	57				
C7orf31	136895	broad.mit.edu	37	7	25194757	25194757	+	Silent	SNP	G	G	A	rs375479092		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:25194757G>A	ENST00000409280.1	-	6	776	c.468C>T	c.(466-468)cgC>cgT	p.R156R	C7orf31_ENST00000283905.3_Silent_p.R156R			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	156										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ACATGGCGCCGCGACAGATGT	0.502																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(466-468)cgC>cgT		chromosome 7 open reading frame 31		G		0,4406		0,0,2203	122.0	128.0	126.0		468	-10.9	0.0	7		126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C7orf31	NM_138811.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		156/591	25194757	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	136895							g.chr7:25194757G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.468C>T	7.37:g.25194757G>A						C7orf31_ENST00000283905.3_Silent_p.R156R	p.R156R			Q8N865	CG031_HUMAN			6	776	-			156					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP	ENST00000409280.1	37	c.468C>T	CCDS5394.1																																																																																				0.502	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		6	43	0	0	0	1	0	6	43				
CSDE1	7812	broad.mit.edu	37	1	115282476	115282476	+	Silent	SNP	T	T	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:115282476T>C	ENST00000358528.4	-	3	462	c.36A>G	c.(34-36)ggA>ggG	p.G12G	CSDE1_ENST00000534699.1_Silent_p.G12G|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000438362.2_Silent_p.G58G|CSDE1_ENST00000261443.5_Silent_p.G12G|CSDE1_ENST00000369530.1_Silent_p.G58G|CSDE1_ENST00000339438.6_Silent_p.G12G	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	12					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCATTATGTCCATTGTTGT	0.368																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(172-174)ggA>ggG		cold shock domain containing E1, RNA-binding							292.0	298.0	296.0					1																	115282476		2203	4300	6503	SO:0001819	synonymous_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115282476T>C		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.36A>G	1.37:g.115282476T>C						CSDE1_ENST00000358528.4_Silent_p.G12G|CSDE1_ENST00000534699.1_Silent_p.G12G|CSDE1_ENST00000261443.5_Silent_p.G12G|CSDE1_ENST00000339438.6_Silent_p.G12G|CSDE1_ENST00000369530.1_Silent_p.G58G|CSDE1_ENST00000530886.1_Intron	p.G58G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	552	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	12			CSD 1.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	c.174A>G	CCDS30812.1																																																																																				0.368	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		13	314	0	0	0	1	0	13	314				
PGLYRP4	57115	broad.mit.edu	37	1	153317725	153317725	+	Missense_Mutation	SNP	G	G	T	rs370345526		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:153317725G>T	ENST00000359650.5	-	4	337	c.273C>A	c.(271-273)gaC>gaA	p.D91E	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.D87E|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	91					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACTGTCTGGTCGTGACACT	0.562																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(259-261)gaC>gaA		peptidoglycan recognition protein 4		G	GLU/ASP	0,4406		0,0,2203	116.0	101.0	106.0		273	-1.1	0.0	1		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	PGLYRP4	NM_020393.2	45	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	91/374	153317725	1,13005	2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153317725G>T	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.273C>A	1.37:g.153317725G>T	ENSP00000352672:p.Asp91Glu					PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D91E	p.D87E			Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	619	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		91					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.261C>A	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.976347	0.00452	0.0	1.16E-4	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.23348	1.91;1.91	3.2	-1.11	0.09840	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	.	.	.	.	T	0.02230	0.0069	N	0.05050	-0.12	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.12156	0.004;0.007	T	0.46803	-0.9165	9	0.05833	T	0.94	-11.1318	6.2938	0.21075	0.5145:0.0:0.4855:0.0	.	87;91	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	E	87;91	ENSP00000357728:D87E;ENSP00000352672:D91E	ENSP00000352672:D91E	D	-	3	2	PGLYRP4	151584349	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	0.048000	0.14078	-0.079000	0.12707	-0.671000	0.03813	GAC		0.562	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		15	29	1	0	0.000219431	1	0.000232866	15	29				
HMCN1	83872	broad.mit.edu	37	1	186057402	186057402	+	Missense_Mutation	SNP	C	C	T	rs200605337		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:186057402C>T	ENST00000271588.4	+	62	9800	c.9571C>T	c.(9571-9573)Cgc>Tgc	p.R3191C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3191C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3191	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAACCACAAGCGCATAGGTAA	0.418																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(9571-9573)Cgc>Tgc		hemicentin 1							92.0	80.0	84.0					1																	186057402		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186057402C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9571C>T	1.37:g.186057402C>T	ENSP00000271588:p.Arg3191Cys					HMCN1_ENST00000367492.2_Missense_Mutation_p.R3191C	p.R3191C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			62	9800	+			3191			Ig-like C2-type 30.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9571C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825503	0.50739	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67865	-0.29;-0.29	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.211137	0.50627	D	0.000114	T	0.75635	0.3876	M	0.73430	2.235	0.33219	D	0.554479	D	0.59767	0.986	P	0.49301	0.606	D	0.83367	0.0005	10	0.66056	D	0.02	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	3191	Q96RW7	HMCN1_HUMAN	C	3191	ENSP00000271588:R3191C;ENSP00000356462:R3191C	ENSP00000271588:R3191C	R	+	1	0	HMCN1	184324025	0.197000	0.23362	0.993000	0.49108	0.050000	0.14768	0.944000	0.29043	2.644000	0.89710	0.563000	0.77884	CGC		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		23	28	0	0	0	1	0	23	28				
OR5R1	219479	broad.mit.edu	37	11	56185068	56185068	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:56185068A>G	ENST00000312253.1	-	1	640	c.641T>C	c.(640-642)gTc>gCc	p.V214A		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGAGGTGAGGACAATGGAAGA	0.473																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(640-642)gTc>gCc		olfactory receptor, family 5, subfamily R, member 1							116.0	99.0	105.0					11																	56185068		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185068A>G	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.641T>C	11.37:g.56185068A>G	ENSP00000308595:p.Val214Ala						p.V214A	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	640	-	Esophageal squamous(21;0.00448)		214						Missense_Mutation	SNP	ENST00000312253.1	37	c.641T>C	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302306	0.60195	.	.	ENSG00000174942	ENST00000312253	T	0.00198	8.57	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30043	U	0.010549	T	0.00724	0.0024	M	0.91354	3.2	0.09310	N	1	D	0.59357	0.985	D	0.64595	0.927	T	0.26121	-1.0112	10	0.87932	D	0	-16.0816	14.943	0.71009	1.0:0.0:0.0:0.0	.	214	Q8NH85	OR5R1_HUMAN	A	214	ENSP00000308595:V214A	ENSP00000308595:V214A	V	-	2	0	OR5R1	55941644	0.410000	0.25376	0.194000	0.23346	0.953000	0.61014	5.013000	0.64023	2.015000	0.59207	0.472000	0.43445	GTC		0.473	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		23	31	0	0	0	1	0	23	31				
WAC	51322	broad.mit.edu	37	10	28906646	28906646	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr10:28906646A>G	ENST00000354911.4	+	13	1968	c.1807A>G	c.(1807-1809)Act>Gct	p.T603A	WAC_ENST00000375646.1_Missense_Mutation_p.T451A|WAC_ENST00000375664.4_Missense_Mutation_p.T558A|WAC_ENST00000347934.4_Missense_Mutation_p.T500A	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	603					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CGAAATTTGTACTGAATTAAA	0.303																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(1672-1674)Act>Gct		WW domain containing adaptor with coiled-coil							35.0	38.0	37.0					10																	28906646		2203	4299	6502	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28906646A>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1807A>G	10.37:g.28906646A>G	ENSP00000346986:p.Thr603Ala					WAC_ENST00000347934.4_Missense_Mutation_p.T500A|WAC_ENST00000375646.1_Missense_Mutation_p.T451A|WAC_ENST00000354911.4_Missense_Mutation_p.T603A	p.T558A			Q9BTA9	WAC_HUMAN			13	2281	+			603					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.1672A>G	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746206	0.49257	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	N	0.17082	0.46	0.80722	D	1	D;B;D	0.61697	0.99;0.379;0.984	D;B;D	0.73380	0.98;0.298;0.956	T	0.30446	-0.9978	10	0.10636	T	0.68	-14.3658	15.7247	0.77747	1.0:0.0:0.0:0.0	.	558;500;603	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	A	558;451;500;603	ENSP00000364816:T558A;ENSP00000364797:T451A;ENSP00000311106:T500A;ENSP00000346986:T603A	ENSP00000311106:T500A	T	+	1	0	WAC	28946652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.116000	0.64780	0.533000	0.62120	ACT		0.303	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		37	39	0	0	0	1	0	37	39				
FLNB	2317	broad.mit.edu	37	3	58139287	58139287	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr3:58139287G>A	ENST00000295956.4	+	39	6718	c.6553G>A	c.(6553-6555)Gtg>Atg	p.V2185M	FLNB_ENST00000490882.1_Missense_Mutation_p.V2216M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1992M|FLNB_ENST00000358537.3_Missense_Mutation_p.V2161M|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.V2144M|FLNB_ENST00000419752.2_Missense_Mutation_p.V2005M|FLNB_ENST00000429972.2_Missense_Mutation_p.V2174M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2185	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAGTTCACCGTGGGGCCACT	0.667																																						ENST00000295956.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(6553-6555)Gtg>Atg		filamin B, beta							37.0	40.0	39.0					3																	58139287		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58139287G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6553G>A	3.37:g.58139287G>A	ENSP00000295956:p.Val2185Met					FLNB_ENST00000493452.1_Missense_Mutation_p.V1992M|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Missense_Mutation_p.V2216M|FLNB_ENST00000429972.2_Missense_Mutation_p.V2174M|FLNB_ENST00000419752.2_Missense_Mutation_p.V2005M|FLNB_ENST00000348383.5_Missense_Mutation_p.V2144M|FLNB_ENST00000358537.3_Missense_Mutation_p.V2161M	p.V2185M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	39	6718	+			2185			Interaction with FLNA 1.|Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.6553G>A	CCDS2885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.305027|5.305027	0.95601|0.95601	.|.	.|.	ENSG00000136068|ENSG00000136068	ENST00000466455|ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	.|T;T;T;T;T;T;T	.|0.61859	.|0.07;0.07;0.07;0.07;0.07;0.07;0.07	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84497|0.84497	0.5485|0.5485	H|H	0.95114|0.95114	3.625|3.625	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.999;0.999;1.0;0.999;0.999	D|D	0.88169|0.88169	0.2863|0.2863	5|10	.|0.87932	.|D	.|0	.|.	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2161;2216;1992;2005;2174;2185	.|O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.|.;.;.;.;.;FLNB_HUMAN	H|M	108|2185;2216;2161;2174;2144;1992;2005	.|ENSP00000295956:V2185M;ENSP00000420213:V2216M;ENSP00000351339:V2161M;ENSP00000415599:V2174M;ENSP00000232447:V2144M;ENSP00000418510:V1992M;ENSP00000414532:V2005M	.|ENSP00000295956:V2185M	R|V	+|+	2|1	0|0	FLNB|FLNB	58114327|58114327	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.792000|0.792000	0.44763|0.44763	9.869000|9.869000	0.99810|0.99810	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.667	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		6	35	0	0	0	1	0	6	35				
TRIM34	53840	broad.mit.edu	37	11	5655971	5655971	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:5655971G>C	ENST00000514226.1	+	4	967	c.630G>C	c.(628-630)aaG>aaC	p.K210N	HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K210N|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K564N|TRIM34_ENST00000429814.2_Missense_Mutation_p.K210N	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	210					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAAGAAAAGAAGACGCTGG	0.443																																						ENST00000354852.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(1690-1692)aaG>aaC									95.0	89.0	91.0					11																	5655971		2201	4297	6498	SO:0001583	missense	0					intracellular	zinc ion binding	g.chr11:5655971G>C	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.630G>C	11.37:g.5655971G>C	ENSP00000422947:p.Lys210Asn					TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K210N|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Missense_Mutation_p.K210N|TRIM34_ENST00000429814.2_Missense_Mutation_p.K210N	p.K564N	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	10	1865	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	564					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1692G>C	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943378	0.34283	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	3.78	2.87	0.33458	.	0.723638	0.11360	N	0.572035	T	0.14960	0.0361	M	0.69823	2.125	0.09310	N	1	P;B;P	0.51653	0.947;0.389;0.882	P;B;P	0.53450	0.726;0.25;0.601	T	0.09930	-1.0652	10	0.42905	T	0.14	.	7.5142	0.27592	0.1174:0.0:0.8826:0.0	.	210;210;564	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	N	564;210;210;210;564	ENSP00000422947:K210N;ENSP00000402595:K210N;ENSP00000395982:K210N;ENSP00000346916:K564N	ENSP00000402595:K210N	K	+	3	2	TRIM34;TRIM6-TRIM34	5612547	0.000000	0.05858	0.001000	0.08648	0.085000	0.17905	0.202000	0.17295	1.177000	0.42855	0.655000	0.94253	AAG		0.443	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		3	48	0	0	0	1	0	3	48				
MS4A4E	643680	broad.mit.edu	37	11	59997411	59997411	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:59997411A>G	ENST00000528394.1	-	1	117	c.118T>C	c.(118-120)Ttc>Ctc	p.F40L	MS4A4E_ENST00000526086.1_Missense_Mutation_p.F40L|MS4A4E_ENST00000427611.2_Silent_p.S15S|MS4A4E_ENST00000398984.2_Missense_Mutation_p.F40L|MS4A4E_ENST00000425663.1_Missense_Mutation_p.F40L|MS4A4E_ENST00000398986.2_Missense_Mutation_p.F40L			Q96PG1	M4A4E_HUMAN	membrane-spanning 4-domains, subfamily A, member 4E	40						integral component of membrane (GO:0016021)				ovary(1)	1						TTCCTCTTGAAGAACTTCTCT	0.443																																						ENST00000528394.1																			0				ovary(1)	1						c.(118-120)Ttc>Ctc		membrane-spanning 4-domains, subfamily A, member 4E																																				SO:0001583	missense	643680							g.chr11:59997411A>G	AF354936		11q12.2	2012-04-20			ENSG00000214787	ENSG00000214787			14284	protein-coding gene	gene with protein product		608401				11486273	Standard	XM_005275707		Approved		uc001noy.2	Q96PG1	OTTHUMG00000167354	ENST00000528394.1:c.118T>C	11.37:g.59997411A>G	ENSP00000436446:p.Phe40Leu					MS4A4E_ENST00000526086.1_Missense_Mutation_p.F40L|MS4A4E_ENST00000427611.2_Silent_p.S15S|MS4A4E_ENST00000425663.1_Missense_Mutation_p.F40L|MS4A4E_ENST00000398986.2_Missense_Mutation_p.F40L|MS4A4E_ENST00000398984.2_Missense_Mutation_p.F40L	p.F40L							1	117	-								Q3C1W1|Q3C1W3|Q3C1W4	Missense_Mutation	SNP	ENST00000528394.1	37	c.118T>C		.	.	.	.	.	.	.	.	.	.	a	0.011	-1.738500	0.00681	.	.	ENSG00000214787	ENST00000425663;ENST00000398986;ENST00000398984;ENST00000526086;ENST00000528394	T;T;T;T;T	0.37752	1.18;1.34;1.46;1.34;1.46	2.89	-0.8	0.10897	.	1.557680	0.04586	N	0.395835	T	0.21103	0.0508	.	.	.	0.20307	N	0.999913	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.17653	-1.0362	8	.	.	.	.	5.7132	0.17946	0.5755:0.0:0.4245:0.0	.	40;40;40	Q96PG1-3;Q96PG1;Q96PG1-2	.;M4A4E_HUMAN;.	L	40	ENSP00000389556:F40L;ENSP00000381956:F40L;ENSP00000381954:F40L;ENSP00000435601:F40L;ENSP00000436446:F40L	.	F	-	1	0	MS4A4E	59753987	0.993000	0.37304	0.997000	0.53966	0.081000	0.17604	0.060000	0.14342	-0.173000	0.10761	0.172000	0.16884	TTC		0.443	MS4A4E-003	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000394290.1	XM_003119183		6	11	0	0	0	1	0	6	11				
NLRP5	126206	broad.mit.edu	37	19	56515394	56515394	+	Silent	SNP	G	G	A	rs370612026		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:56515394G>A	ENST00000390649.3	+	2	375	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	125	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGGCTACGTCCATTAGCA	0.502																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(373-375)acG>acA		NLR family, pyrin domain containing 5		G		0,4080		0,0,2040	90.0	89.0	89.0		375	-3.6	0.0	19		89	1,8381		0,1,4190	no	coding-synonymous	NLRP5	NM_153447.4		0,1,6230	AA,AG,GG		0.0119,0.0,0.0080		125/1201	56515394	1,12461	2040	4191	6231	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515394G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.375G>A	19.37:g.56515394G>A							p.T125T	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	375	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	125			DAPIN.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.375G>A	CCDS12938.1																																																																																				0.502	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		16	4	0	0	0	1	0	16	4				
PPFIBP2	8495	broad.mit.edu	37	11	7586808	7586808	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:7586808G>A	ENST00000299492.4	+	3	477	c.89G>A	c.(88-90)aGt>aAt	p.S30N		NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	30					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAGATCTTAGTGATGGTACT	0.527																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(88-90)aGt>aAt		PTPRF interacting protein, binding protein 2 (liprin beta 2)							207.0	195.0	199.0					11																	7586808		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7586808G>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.89G>A	11.37:g.7586808G>A	ENSP00000299492:p.Ser30Asn						p.S30N	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	3	477	+			30					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.89G>A	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110832	0.37242	.	.	ENSG00000166387	ENST00000526873;ENST00000528947;ENST00000299492;ENST00000527790;ENST00000526046	T;T	0.13538	2.58;2.58	5.49	3.59	0.41128	.	0.582816	0.17648	N	0.166786	T	0.13286	0.0322	L	0.49126	1.545	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.18116	-1.0347	10	0.66056	D	0.02	-2.4625	7.9046	0.29755	0.082:0.3061:0.6119:0.0	.	30	Q8ND30	LIPB2_HUMAN	N	30	ENSP00000299492:S30N;ENSP00000434981:S30N	ENSP00000299492:S30N	S	+	2	0	PPFIBP2	7543384	0.001000	0.12720	0.323000	0.25347	0.985000	0.73830	0.960000	0.29253	0.849000	0.35215	0.650000	0.86243	AGT		0.527	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		5	132	0	0	0	1	0	5	132				
FAP	2191	broad.mit.edu	37	2	163030247	163030247	+	Missense_Mutation	SNP	G	G	C	rs369985168		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:163030247G>C	ENST00000188790.4	-	23	2227	c.2020C>G	c.(2020-2022)Ctt>Gtt	p.L674V	FAP_ENST00000443424.1_Missense_Mutation_p.L649V|AC007750.5_ENST00000418968.3_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAGTGCTCAAGATTATCATCC	0.299																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(2020-2022)Ctt>Gtt		fibroblast activation protein, alpha							148.0	156.0	154.0					2																	163030247		2203	4298	6501	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163030247G>C	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.2020C>G	2.37:g.163030247G>C	ENSP00000188790:p.Leu674Val					FAP_ENST00000443424.1_Missense_Mutation_p.L649V	p.L674V	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			23	2227	-			674						Missense_Mutation	SNP	ENST00000188790.4	37	c.2020C>G	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825824	0.32237	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.30714	1.52;1.52	5.17	5.17	0.71159	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.067344	0.64402	D	0.000010	T	0.37598	0.1009	L	0.46819	1.47	0.49915	D	0.999833	P;B;P	0.43094	0.621;0.412;0.799	P;B;P	0.48873	0.593;0.05;0.572	T	0.03364	-1.1044	10	0.12103	T	0.63	-15.263	19.0333	0.92967	0.0:0.0:1.0:0.0	.	649;153;674	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	V	674;649	ENSP00000188790:L674V;ENSP00000411391:L649V	ENSP00000188790:L674V	L	-	1	0	FAP	162738493	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	5.538000	0.67193	2.591000	0.87537	0.655000	0.94253	CTT		0.299	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			6	134	0	0	0	1	0	6	134				
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs200907281	byFrequency	TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458													.|||	1958	0.390974	0.1899	0.3501	5008	,	,		13255	0.6895		0.4553	False		,,,				2504	0.318					ENST00000535591.1																			3	Substitution - coding silent(3)	p.L274L(3)	kidney(2)|endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(820-822)ctC>ctA		PRAME family member 11							67.0	40.0	49.0					1																	12885289		582	1168	1750	SO:0001819	synonymous_variant	440560							g.chr1:12885289G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.822C>A	1.37:g.12885289G>T							p.L274L	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1017	-			274						Silent	SNP	ENST00000535591.1	37	c.822C>A	CCDS53268.1																																																																																				0.458	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		7	231	1	0	5.18039e-06	1	5.7315e-06	7	231				
DENND5A	23258	broad.mit.edu	37	11	9163597	9163597	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:9163597G>C	ENST00000328194.3	-	22	3890	c.3570C>G	c.(3568-3570)aaC>aaG	p.N1190K	DENND5A_ENST00000527700.1_Missense_Mutation_p.N533K|DENND5A_ENST00000530044.1_Missense_Mutation_p.N1190K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1190	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGTATGCCAGTTTTCCTCAG	0.453																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3568-3570)aaC>aaG		DENN/MADD domain containing 5A							200.0	189.0	193.0					11																	9163597		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9163597G>C	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3570C>G	11.37:g.9163597G>C	ENSP00000328524:p.Asn1190Lys					DENND5A_ENST00000527700.1_Missense_Mutation_p.N533K|DENND5A_ENST00000530044.1_Missense_Mutation_p.N1190K	p.N1190K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			22	3890	-			1190			RUN 2.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.3570C>G	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.275493|2.275493	0.40294|0.40294	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000528725;ENST00000533737;ENST00000525784	T;T;T|.	0.22134|.	1.97;3.81;1.97|.	5.56|5.56	1.2|1.2	0.21068|0.21068	RUN (2);|.	0.043164|.	0.85682|.	D|.	0.000000|.	T|T	0.50837|0.50837	0.1639|0.1639	L|L	0.36672|0.36672	1.1|1.1	0.53688|0.53688	D|D	0.999971|0.999971	B;B|.	0.24317|.	0.049;0.101|.	B;B|.	0.27380|.	0.045;0.079|.	T|T	0.30268|0.30268	-0.9984|-0.9984	10|5	0.07482|.	T|.	0.82|.	.|.	10.3187|10.3187	0.43753|0.43753	0.4474:0.0:0.5526:0.0|0.4474:0.0:0.5526:0.0	.|.	1190;1190|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	K|S	1190;1190;533|89;78;169	ENSP00000328524:N1190K;ENSP00000435866:N1190K;ENSP00000432549:N533K|.	ENSP00000328524:N1190K|.	N|T	-|-	3|2	2|0	DENND5A|DENND5A	9120173|9120173	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	3.439000|3.439000	0.52878|0.52878	-0.036000|-0.036000	0.13669|0.13669	0.655000|0.655000	0.94253|0.94253	AAC|ACT		0.453	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		9	70	0	0	0	1	0	9	70				
GEN1	348654	broad.mit.edu	37	2	17954555	17954557	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:17954555_17954557delTTA	ENST00000381254.2	+	10	1274_1276	c.1060_1062delTTA	c.(1060-1062)ttadel	p.L355del	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_In_Frame_Del_p.L355del	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	355					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACCTGATTTGTTATTGTTTCAGG	0.32								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(1060-1062)del	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease																																				SO:0001651	inframe_deletion	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17954555_17954557delTTA	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.1060_1062delTTA	2.37:g.17954555_17954557delTTA	ENSP00000370653:p.Leu355del					SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_In_Frame_Del_p.L355del	p.L355del	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			10	1274_1276	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		355					Q17RS9|Q6ZN37	In_Frame_Del	DEL	ENST00000381254.2	37	c.1060_1062delTTA	CCDS1691.1																																																																																				0.320	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		14	43						14	43	---	---	---	---
LOC146880	146880	broad.mit.edu	37	17	62750914	62750914	+	RNA	DEL	T	T	-			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr17:62750914delT	ENST00000400873.3	-	0	1841					NR_026899.1																						CTGATTATGCttttttttttg	0.433																																						ENST00000400873.3																			0																																																			0							g.chr17:62750914delT																													17.37:g.62750914delT								NR_026899.1						0	1841	-									RNA	DEL	ENST00000400873.3	37																																																																																						0.433	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				3	5						3	5	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43428981	43428982	+	RNA	INS	-	-	G	rs200700777	byFrequency	TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:43428981_43428982insG	ENST00000406070.2	-	0	1340				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				tccagtctacagtggataataa	0.406													|||unknown(NO_COVERAGE)	182	0.0363419	0.0666	0.049	5008	,	,		17867	0.0		0.0447	False		,,,				2504	0.0153					ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)			,	540,3372		144,252,1560					,	0.1	0.1			73	440,7000		88,264,3368	no	intron,intron	PSG7	NM_002783.2,NM_001206650.1	,	232,516,4928	A1A1,A1R,RR		5.914,13.8037,8.6328	,	,		980,10372						5676				female pregnancy	extracellular region		g.chr19:43428981_43428982insG			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43428982_43428982dupG								NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	1340	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.406	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		3	6						3	6	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																						ENST00000380102.2																			1	Deletion - In frame(1)	p.S50_P54delSCCAP(1)	upper_aerodigestive_tract(1)	breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(133-150)ccc>cc		keratin associated protein 10-7			,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				SO:0001651	inframe_deletion	386675					keratin filament		g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del					TSPEAR_ENST00000323084.4_Intron	p.PCCAPS45del	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	160_174	+			45			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	In_Frame_Del	DEL	ENST00000380102.2	37	c.135_149delCTGCTGCGCCCCCAG																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		10	9						10	9	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937741	76937744	+	Frame_Shift_Del	DEL	TTAC	TTAC	-			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chrX:76937741_76937744delTTAC	ENST00000373344.5	-	9	3218_3221	c.3004_3007delGTAA	c.(3004-3009)gtaattfs	p.VI1002fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.VI964fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1002					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCCATTTTAATTACTTTTTTCTTA	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3004-3009)ttfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937741_76937744delTTAC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3004_3007delGTAA	X.37:g.76937741_76937744delTTAC	ENSP00000362441:p.Val1002fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.VI964fs	p.VI1002fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3218_3221	-			1002					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3004_3007delGTAA	CCDS14434.1																																																																																				0.333	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		71	21						71	21	---	---	---	---
ARMCX1	51309	broad.mit.edu	37	X	100808802	100808803	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chrX:100808802_100808803insTC	ENST00000372829.3	+	4	1260_1261	c.889_890insTC	c.(889-891)gtcfs	p.V297fs		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	297						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGACACCATGGTCTGTCGCTTG	0.426																																						ENST00000372829.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						c.(889-891)ctgfs		armadillo repeat containing, X-linked 1																																				SO:0001589	frameshift_variant	51309					integral to membrane	binding	g.chrX:100808802_100808803insTC	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.890_891dupTC	X.37:g.100808803_100808804dupTC	ENSP00000361917:p.Val297fs						p.L297fs	NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN			4	1260_1261	+			297					Q53HK2|Q9H2Q0	Frame_Shift_Ins	INS	ENST00000372829.3	37	c.889_890insTC	CCDS14487.1																																																																																				0.426	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608		8	34						8	34	---	---	---	---
