#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ICAM1	3383	broad.mit.edu	37	19	10394801	10394801	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:10394801C>T	ENST00000264832.3	+	4	1055	c.730C>T	c.(730-732)Cca>Tca	p.P244S	ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	244	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CGGGCTGTTCCCAGTCTCGGA	0.647																																						ENST00000264832.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(730-732)Cca>Tca		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						69.0	61.0	63.0					19																	10394801		2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394801C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.730C>T	19.37:g.10394801C>T	ENSP00000264832:p.Pro244Ser					CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	p.P244S	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		4	1055	+			244			Ig-like C2-type 3.		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.730C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848084	0.51164	.	.	ENSG00000090339	ENST00000264832	T	0.15256	2.44	4.32	4.32	0.51571	Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000299	T	0.43567	0.1253	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45483	-0.9258	10	0.72032	D	0.01	-17.3823	12.4743	0.55803	0.0:1.0:0.0:0.0	.	244	P05362	ICAM1_HUMAN	S	244	ENSP00000264832:P244S	ENSP00000264832:P244S	P	+	1	0	ICAM1	10255801	0.998000	0.40836	0.993000	0.49108	0.151000	0.21798	3.787000	0.55439	2.399000	0.81585	0.407000	0.27541	CCA		0.647	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			6	55	0	0	0	1	0	6	55				
IGHV1-58	28464	broad.mit.edu	37	14	107078386	107078386	+	RNA	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:107078386T>C	ENST00000390628.2	-	0	398									immunoglobulin heavy variable 1-58																		CGCACAGTAATACACGGCCGT	0.542																																						ENST00000390628.2																			0																				200.0	206.0	204.0					14																	107078386		2090	4212	6302			28464							g.chr14:107078386T>C	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078386T>C														0	398	-									RNA	SNP	ENST00000390628.2	37																																																																																						0.542	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		163	187	0	0	0	1	0	163	187				
PTGER3	5733	broad.mit.edu	37	1	71437416	71437416	+	Splice_Site	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:71437416T>A	ENST00000306666.5	-	4	1380	c.1170A>T	c.(1168-1170)agA>agT	p.R390S	PTGER3_ENST00000356595.4_Intron|PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	390					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TCTTTCATTATCTGTTAGAAT	0.303																																						ENST00000306666.5																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.e4-1		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						102.0	110.0	107.0					1																	71437416		2203	4297	6500	SO:0001630	splice_region_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71437416T>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.1170-1A>T	1.37:g.71437416T>A						PTGER3_ENST00000414819.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000356595.4_Intron	p.R390_splice	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN			4	1380	-			390					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Splice_Site	SNP	ENST00000306666.5	37	c.1169_splice	CCDS657.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756853	0.69648	.	.	ENSG00000050628	ENST00000306666	T	0.18174	2.23	4.19	4.19	0.49359	.	.	.	.	.	T	0.19525	0.0469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.00701	-1.1603	6	0.72032	D	0.01	.	9.9315	0.41525	0.0:0.0:0.0:1.0	.	.	.	.	S	390	ENSP00000302313:R390S	ENSP00000302313:R390S	R	-	3	2	PTGER3	71210004	0.994000	0.37717	1.000000	0.80357	0.875000	0.50365	0.993000	0.29680	2.105000	0.64084	0.528000	0.53228	AGA		0.303	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957	Missense_Mutation	25	66	0	0	0	1	0	25	66				
SORCS1	114815	broad.mit.edu	37	10	108521362	108521362	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:108521362G>T	ENST00000263054.6	-	5	950	c.943C>A	c.(943-945)Cca>Aca	p.P315T	SORCS1_ENST00000344440.6_Missense_Mutation_p.P315T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	315					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCTGTTTGGTACAACCCCT	0.393																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(943-945)Cca>Aca		sortilin-related VPS10 domain containing receptor 1							169.0	146.0	154.0					10																	108521362		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108521362G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.943C>A	10.37:g.108521362G>T	ENSP00000263054:p.Pro315Thr					SORCS1_ENST00000344440.6_Missense_Mutation_p.P315T	p.P315T	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	5	950	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	315					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.943C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062468	0.76187	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.25250	1.81;1.81	5.97	5.97	0.96955	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.72894	2.215	0.49389	D	0.999785	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0	D;D;D;D;D	0.78314	0.98;0.985;0.991;0.98;0.991	T	0.40156	-0.9578	9	.	.	.	-15.6205	15.9389	0.79739	0.0:0.0:1.0:0.0	.	315;315;315;315;315	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	T	315	ENSP00000263054:P315T;ENSP00000345964:P315T	.	P	-	1	0	SORCS1	108511352	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.235000	0.78143	2.836000	0.97738	0.655000	0.94253	CCA		0.393	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		12	47	1	0	0.000422831	1	0.000459534	12	47				
PTPRU	10076	broad.mit.edu	37	1	29587162	29587162	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:29587162T>C	ENST00000345512.3	+	7	1020	c.891T>C	c.(889-891)gcT>gcC	p.A297A	PTPRU_ENST00000428026.2_Silent_p.A297A|PTPRU_ENST00000356870.3_Silent_p.A297A|PTPRU_ENST00000460170.2_Silent_p.A297A|PTPRU_ENST00000373779.3_Silent_p.A297A|PTPRU_ENST00000323874.8_Silent_p.A297A	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	297	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCTGCGTGCTGGCCCCACCT	0.662																																						ENST00000356870.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(889-891)gcT>gcC		protein tyrosine phosphatase, receptor type, U							62.0	59.0	60.0					1																	29587162		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29587162T>C	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.891T>C	1.37:g.29587162T>C						PTPRU_ENST00000345512.3_Silent_p.A297A|PTPRU_ENST00000323874.8_Silent_p.A297A|PTPRU_ENST00000460170.2_Silent_p.A297A|PTPRU_ENST00000428026.2_Silent_p.A297A|PTPRU_ENST00000373779.3_Silent_p.A297A	p.A297A	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1001	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	297			Fibronectin type-III 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.891T>C	CCDS334.1																																																																																				0.662	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			16	40	0	0	0	1	0	16	40				
CYP4A11	1579	broad.mit.edu	37	1	47399865	47399865	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:47399865A>G	ENST00000310638.4	-	8	1102	c.1071T>C	c.(1069-1071)gaT>gaC	p.D357D	CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000371904.4_Silent_p.D358D|CYP4A11_ENST00000371905.1_Silent_p.D357D|CYP4A11_ENST00000496519.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	357					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TGGAGGCTCCATCACCCAGGA	0.612																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1069-1071)gaT>gaC		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						49.0	51.0	50.0					1																	47399865		2203	4300	6503	SO:0001819	synonymous_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47399865A>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1071T>C	1.37:g.47399865A>G						CYP4A11_ENST00000371904.4_Silent_p.D358D|CYP4A11_ENST00000371905.1_Silent_p.D357D|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_3'UTR	p.D357D	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			8	1102	-			357					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	c.1071T>C	CCDS543.1																																																																																				0.612	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		10	43	0	0	0	1	0	10	43				
AFF3	3899	broad.mit.edu	37	2	100623460	100623460	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:100623460C>A	ENST00000409236.2	-	5	619	c.507G>T	c.(505-507)agG>agT	p.R169S	AFF3_ENST00000317233.4_Missense_Mutation_p.R169S|AFF3_ENST00000409579.1_Missense_Mutation_p.R194S|AFF3_ENST00000356421.2_Missense_Mutation_p.R194S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	169					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CAAGCAAGGTCCTGAGAGAGC	0.522																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(505-507)agG>agT		AF4/FMR2 family, member 3							37.0	41.0	40.0					2																	100623460		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623460C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.507G>T	2.37:g.100623460C>A	ENSP00000387207:p.Arg169Ser					AFF3_ENST00000409236.1_Missense_Mutation_p.R169S|AFF3_ENST00000409579.1_Missense_Mutation_p.R194S|AFF3_ENST00000356421.2_Missense_Mutation_p.R194S	p.R169S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			6	742	-			169					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.507G>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093569	0.56075	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.36	3.57	0.40892	.	0.193954	0.41712	D	0.000840	T	0.51007	0.1649	N	0.08118	0	0.35341	D	0.786523	D;P;D;P;P	0.61697	0.99;0.867;0.98;0.901;0.879	P;P;P;P;B	0.62491	0.903;0.461;0.721;0.559;0.423	T	0.53279	-0.8461	10	0.09590	T	0.72	.	8.5229	0.33287	0.0:0.7641:0.0:0.2359	.	323;323;169;169;194	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	S	169;194;194;169;169;323;194	ENSP00000317421:R169S;ENSP00000348793:R194S;ENSP00000386834:R194S;ENSP00000387207:R169S	ENSP00000317421:R169S	R	-	3	2	AFF3	99989892	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	0.574000	0.23714	0.642000	0.30620	-0.224000	0.12420	AGG		0.522	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		16	48	1	0	2.32078e-09	1	2.97921e-09	16	48				
CFH	3075	broad.mit.edu	37	1	196648875	196648875	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:196648875G>T	ENST00000359637.2	+	5	612	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	CFH_ENST00000367429.4_Missense_Mutation_p.D248Y|CFH_ENST00000439155.2_Missense_Mutation_p.D248Y			P08603	CFAH_HUMAN	complement factor H	248	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAAAGAGGAGATGCTGTATG	0.318																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(742-744)Gat>Tat		complement factor H							94.0	88.0	90.0					1																	196648875		2203	4299	6502	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196648875G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.550G>T	1.37:g.196648875G>T	ENSP00000352658:p.Asp184Tyr					CFH_ENST00000359637.2_Missense_Mutation_p.D184Y|CFH_ENST00000439155.2_Missense_Mutation_p.D248Y	p.D248Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			6	982	+			248			Sushi 4.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.742G>T		.	.	.	.	.	.	.	.	.	.	G	13.99	2.401506	0.42613	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.63913	-0.07;-0.07;-0.07	5.85	4.95	0.65309	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.78400	0.4277	M	0.82517	2.595	0.37854	D	0.929505	D;D;D;D	0.89917	1.0;0.999;1.0;0.993	D;D;D;P	0.79784	0.993;0.967;0.993;0.906	T	0.81959	-0.0694	9	0.48119	T	0.1	.	10.8927	0.47004	0.0857:0.0:0.9143:0.0	.	184;248;248;248	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	Y	248;248;248;184	ENSP00000356399:D248Y;ENSP00000402656:D248Y;ENSP00000352658:D184Y	ENSP00000352658:D184Y	D	+	1	0	CFH	194915498	1.000000	0.71417	0.836000	0.33094	0.209000	0.24338	2.613000	0.46351	1.489000	0.48450	0.561000	0.74099	GAT		0.318	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		12	41	1	0	0.00136819	1	0.00144905	12	41				
LDB3	11155	broad.mit.edu	37	10	88446937	88446937	+	Silent	SNP	G	G	C	rs371708921	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:88446937G>C	ENST00000372066.3	+	5	535	c.456G>C	c.(454-456)gcG>gcC	p.A152A	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Silent_p.A267A|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000263066.6_Silent_p.A152A|LDB3_ENST00000429277.2_Silent_p.A267A|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000458213.2_Silent_p.A152A	NM_001080116.1	NP_001073585.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TCATCCATGCGCAGTACAACA	0.612																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(799-801)gcG>gcC		LIM domain binding 3							138.0	157.0	151.0					10																	88446937		2177	4263	6440	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88446937G>C	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000372066.3:c.456G>C	10.37:g.88446937G>C						LDB3_ENST00000361373.4_Intron|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000372066.3_Silent_p.A152A|LDB3_ENST00000372056.4_Silent_p.A267A|LDB3_ENST00000263066.6_Silent_p.A152A|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Silent_p.A152A|LDB3_ENST00000542786.1_3'UTR	p.A267A	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			6	946	+			252						Silent	SNP	ENST00000372066.3	37	c.801G>C	CCDS41545.1																																																																																				0.612	LDB3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049161.1			44	175	0	0	0	1	0	44	175				
XKR9	389668	broad.mit.edu	37	8	71593478	71593478	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:71593478G>T	ENST00000408926.3	+	3	719	c.185G>T	c.(184-186)tGg>tTg	p.W62L	XKR9_ENST00000520030.1_Missense_Mutation_p.W62L|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	62						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGTTATTCTTGGTTCAAGGCT	0.378																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(184-186)tGg>tTg		XK, Kell blood group complex subunit-related family, member 9							243.0	242.0	242.0					8																	71593478		2203	4300	6503	SO:0001583	missense	389668					integral to membrane		g.chr8:71593478G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.185G>T	8.37:g.71593478G>T	ENSP00000386141:p.Trp62Leu					XKR9_ENST00000520030.1_Missense_Mutation_p.W62L|XKR9_ENST00000520273.1_Intron	p.W62L	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		3	719	+	Breast(64;0.0716)		62					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.185G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213306	0.79352	.	.	ENSG00000221947	ENST00000408926;ENST00000520030;ENST00000519350	T;T;T	0.69175	-0.38;-0.38;-0.38	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85716	0.1322	10	0.66056	D	0.02	-5.1915	15.6752	0.77311	0.0:0.0:1.0:0.0	.	62	Q5GH70	XKR9_HUMAN	L	62	ENSP00000386141:W62L;ENSP00000431088:W62L;ENSP00000428904:W62L	ENSP00000386141:W62L	W	+	2	0	XKR9	71756032	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.775000	0.68915	2.542000	0.85734	0.460000	0.39030	TGG		0.378	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		35	230	1	0	3.90053e-15	1	5.81579e-15	35	230				
NME8	51314	broad.mit.edu	37	7	37903065	37903065	+	Splice_Site	SNP	G	G	T	rs538425312		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:37903065G>T	ENST00000199447.4	+	8	826		c.e8+1		EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Splice_Site	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8						cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GAAAGTGTTCGTAAGTAAATT	0.363																																						ENST00000199447.4																			0											c.e8+1		NME/NM23 family member 8							98.0	102.0	101.0					7																	37903065		2203	4300	6503	SO:0001630	splice_region_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37903065G>T	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.454+1G>T	7.37:g.37903065G>T						EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Splice_Site		NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			8	826	+								Q9NZH1	Splice_Site	SNP	ENST00000199447.4	37		CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891480	0.33442	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0735	0.48016	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TXNDC3	37869590	0.999000	0.42202	0.942000	0.38095	0.073000	0.16967	3.735000	0.55044	2.306000	0.77630	0.591000	0.81541	.		0.363	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	Intron	13	40	1	0	0.000151284	1	0.000166195	13	40				
CSMD3	114788	broad.mit.edu	37	8	113569164	113569164	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113569164A>G	ENST00000297405.5	-	25	4306	c.4062T>C	c.(4060-4062)tgT>tgC	p.C1354C	CSMD3_ENST00000352409.3_Silent_p.C1354C|CSMD3_ENST00000455883.2_Silent_p.C1250C|CSMD3_ENST00000343508.3_Silent_p.C1314C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1354	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGATCTTCACAGTGTGAGA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4060-4062)tgT>tgC		CUB and Sushi multiple domains 3							72.0	66.0	68.0					8																	113569164		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113569164A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4062T>C	8.37:g.113569164A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Silent_p.C1354C|CSMD3_ENST00000343508.3_Silent_p.C1314C|CSMD3_ENST00000455883.2_Silent_p.C1250C	p.C1354C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			25	4306	-			1354			Sushi 7.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4062T>C	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	34	0	0	0	1	0	16	34				
TYROBP	7305	broad.mit.edu	37	19	36398448	36398448	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36398448C>A	ENST00000262629.4	-	3	195	c.129G>T	c.(127-129)ctG>ctT	p.L43L	TYROBP_ENST00000544690.2_Silent_p.L32L|TYROBP_ENST00000424586.3_Silent_p.L32L|TYROBP_ENST00000585901.2_Silent_p.L43L|TYROBP_ENST00000589517.1_Silent_p.L43L	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	43					axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGATCCCTGCCAGCACGCCCG	0.677																																						ENST00000585901.2																			0				NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(127-129)ctG>ctT		TYRO protein tyrosine kinase binding protein							37.0	39.0	38.0					19																	36398448		2203	4300	6503	SO:0001819	synonymous_variant	7305				axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity	g.chr19:36398448C>A	AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"""killer activating receptor associated protein"", ""DNAX-activation protein 12"""	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.129G>T	19.37:g.36398448C>A						TYROBP_ENST00000589517.1_Silent_p.L43L|TYROBP_ENST00000544690.2_Silent_p.L32L|TYROBP_ENST00000424586.3_Silent_p.L32L|TYROBP_ENST00000262629.4_Silent_p.L43L	p.L43L			O43914	TYOBP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	147	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		43					A8K2X0|F5H389|Q6FGA5|Q9UMT3	Silent	SNP	ENST00000262629.4	37	c.129G>T	CCDS12482.1																																																																																				0.677	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1			17	58	1	0	4.7546e-09	1	6.06096e-09	17	58				
APCDD1	147495	broad.mit.edu	37	18	10471535	10471535	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:10471535T>G	ENST00000355285.5	+	3	605	c.251T>G	c.(250-252)gTa>gGa	p.V84G	APCDD1_ENST00000578882.1_Missense_Mutation_p.V84G	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		AGCTGTGAAGTAAGGTCAGGC	0.403																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(250-252)gTa>gGa		adenomatosis polyposis coli down-regulated 1							81.0	77.0	78.0					18																	10471535		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471535T>G	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.251T>G	18.37:g.10471535T>G	ENSP00000347433:p.Val84Gly					APCDD1_ENST00000578882.1_Missense_Mutation_p.V84G	p.V84G	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	605	+			84						Missense_Mutation	SNP	ENST00000355285.5	37	c.251T>G	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974215	0.34848	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.23754	1.89	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	M	0.74467	2.265	0.80722	D	1	P	0.44627	0.839	P	0.54965	0.765	T	0.50083	-0.8869	10	0.87932	D	0	-22.0791	15.2325	0.73401	0.0:0.0:0.0:1.0	.	84	Q8J025	APCD1_HUMAN	G	84;135	ENSP00000347433:V84G	ENSP00000347433:V84G	V	+	2	0	APCDD1	10461535	1.000000	0.71417	0.961000	0.40146	0.984000	0.73092	7.645000	0.83430	2.004000	0.58718	0.533000	0.62120	GTA		0.403	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		18	49	0	0	0	1	0	18	49				
BRINP1	1620	broad.mit.edu	37	9	122075500	122075500	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:122075500C>A	ENST00000265922.3	-	2	595	c.134G>T	c.(133-135)aGg>aTg	p.R45M	BRINP1_ENST00000373964.2_Missense_Mutation_p.R45M	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	45					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GAAAGGCCCCCTGTCTGAAAT	0.488																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(133-135)aGg>aTg									111.0	108.0	109.0					9																	122075500		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122075500C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.134G>T	9.37:g.122075500C>A	ENSP00000265922:p.Arg45Met					DBC1_ENST00000373964.2_Missense_Mutation_p.R45M	p.R45M	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			2	595	-			45					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.134G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466003	0.84425	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.52295	2.26;0.67	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.74348	0.983;0.962	T	0.63014	-0.6731	10	0.87932	D	0	-19.8385	18.859	0.92265	0.0:1.0:0.0:0.0	.	45;45	O60477-2;O60477	.;DBC1_HUMAN	M	45	ENSP00000265922:R45M;ENSP00000363075:R45M	ENSP00000265922:R45M	R	-	2	0	DBC1	121115321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.771000	0.68881	2.473000	0.83533	0.561000	0.74099	AGG		0.488	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		38	30	1	0	2.35958e-20	1	3.8171e-20	38	30				
KCNJ2	3759	broad.mit.edu	37	17	68171335	68171335	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:68171335G>T	ENST00000243457.3	+	2	538	c.155G>T	c.(154-156)gGc>gTc	p.G52V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G52V	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	52					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAGAAAGATGGCCACTGTAAT	0.527																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(154-156)gGc>gTc		potassium inwardly-rectifying channel, subfamily J, member 2							163.0	128.0	139.0					17																	68171335		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171335G>T	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.155G>T	17.37:g.68171335G>T	ENSP00000243457:p.Gly52Val					KCNJ2_ENST00000535240.1_Missense_Mutation_p.G52V	p.G52V	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	538	+	Breast(10;1.64e-08)		52					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.155G>T	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059428	0.55325	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.97941	-4.62;-4.62	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.046289	0.85682	D	0.000000	D	0.99272	0.9746	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98818	1.0746	9	.	.	.	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	52	P63252	IRK2_HUMAN	V	52	ENSP00000441848:G52V;ENSP00000243457:G52V	.	G	+	2	0	KCNJ2	65682930	1.000000	0.71417	0.571000	0.28486	0.872000	0.50106	7.948000	0.87774	2.662000	0.90505	0.555000	0.69702	GGC		0.527	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		12	64	1	0	0.00010058	1	0.000110759	12	64				
PPP1R9A	55607	broad.mit.edu	37	7	94540305	94540305	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:94540305G>T	ENST00000433881.1	+	2	1412	c.880G>T	c.(880-882)Ggt>Tgt	p.G294C	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G294C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G294C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G294C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G294C|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.G294C			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	294					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCGATACCTGGTGAAGAGAT	0.473										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(880-882)Ggt>Tgt		protein phosphatase 1, regulatory subunit 9A							49.0	44.0	46.0					7																	94540305		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540305G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.880G>T	7.37:g.94540305G>T	ENSP00000398870:p.Gly294Cys	HNSCC(28;0.073)				PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G294C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G294C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G294C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G294C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G294C	p.G294C	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	1096	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		294					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.880G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	1.586	-0.530266	0.04112	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	5.73	-0.692	0.11301	.	0.904163	0.09942	N	0.735795	D	0.88797	0.6534	N	0.22421	0.69	0.09310	N	1	B;P;P;B;B	0.48503	0.412;0.606;0.911;0.412;0.162	B;B;P;B;B	0.46479	0.156;0.371;0.518;0.156;0.156	T	0.79667	-0.1708	9	.	.	.	.	11.5894	0.50938	0.5878:0.0:0.4122:0.0	.	294;294;294;294;294	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	C	294	ENSP00000405514:G294C;ENSP00000344524:G294C;ENSP00000411342:G294C;ENSP00000398870:G294C;ENSP00000289495:G294C;ENSP00000402893:G294C	.	G	+	1	0	PPP1R9A	94378241	0.000000	0.05858	0.060000	0.19600	0.003000	0.03518	0.296000	0.19083	-0.037000	0.13646	-0.312000	0.09012	GGT		0.473	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		6	31	1	0	8.12818e-05	1	8.96159e-05	6	31				
DEK	7913	broad.mit.edu	37	6	18264160	18264160	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:18264160T>A	ENST00000397239.3	-	2	506	c.59A>T	c.(58-60)gAg>gTg	p.E20V	DEK_ENST00000244776.7_Missense_Mutation_p.E20V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	20					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GGGTTCTTTCTCGGACGCGGG	0.662			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(58-60)gAg>gTg		DEK oncogene							36.0	38.0	37.0					6																	18264160		2203	4300	6503	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18264160T>A	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.59A>T	6.37:g.18264160T>A	ENSP00000380414:p.Glu20Val					DEK_ENST00000244776.7_Missense_Mutation_p.E20V	p.E20V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		2	506	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	20					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.59A>T	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162547	0.57368	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000515742	T;T;T	0.54479	0.69;0.57;0.78	4.76	4.76	0.60689	.	0.122449	0.34484	N	0.003921	T	0.21103	0.0508	N	0.22421	0.69	0.31202	N	0.699621	B;B	0.23058	0.079;0.079	B;B	0.20955	0.032;0.032	T	0.10086	-1.0645	10	0.42905	T	0.14	-8.3862	11.65	0.51284	0.0:0.0:0.0:1.0	.	20;20	B4DN37;P35659	.;DEK_HUMAN	V	20;20;25	ENSP00000380414:E20V;ENSP00000244776:E20V;ENSP00000423553:E25V	ENSP00000244776:E20V	E	-	2	0	DEK	18372139	1.000000	0.71417	0.998000	0.56505	0.157000	0.22087	3.568000	0.53820	1.753000	0.51906	0.402000	0.26972	GAG		0.662	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			17	37	0	0	0	1	0	17	37				
GPR50	9248	broad.mit.edu	37	X	150348694	150348694	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:150348694C>A	ENST00000218316.3	+	2	708	c.639C>A	c.(637-639)acC>acA	p.T213T	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	213					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGATCTGGACCAAAGTGCTGG	0.512																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(637-639)acC>acA		G protein-coupled receptor 50							200.0	177.0	185.0					X																	150348694		2095	4209	6304	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348694C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.639C>A	X.37:g.150348694C>A							p.T213T	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	708	+	Acute lymphoblastic leukemia(192;6.56e-05)		213					Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.639C>A	CCDS44012.1																																																																																				0.512	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		29	111	1	0	1.13719e-10	1	1.50637e-10	29	111				
FSTL4	23105	broad.mit.edu	37	5	132535254	132535254	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:132535254C>T	ENST00000265342.7	-	16	2311	c.2062G>A	c.(2062-2064)Gta>Ata	p.V688I	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	688						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGCCTGTTACATCACCATTG	0.617																																						ENST00000265342.7																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2062-2064)Gta>Ata		follistatin-like 4							55.0	59.0	58.0					5																	132535254		2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132535254C>T	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2062G>A	5.37:g.132535254C>T	ENSP00000265342:p.Val688Ile					CTB-49A3.2_ENST00000509051.1_RNA	p.V688I	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2311	-		all_cancers(142;0.244)	688					Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.2062G>A	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	C	0.816	-0.750406	0.03041	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.29917	1.55	4.74	-1.09	0.09904	WD40/YVTN repeat-like-containing domain (1);	0.272389	0.30850	N	0.008747	T	0.18800	0.0451	L	0.33792	1.035	0.09310	N	0.999999	B;B	0.20671	0.023;0.047	B;B	0.25506	0.017;0.061	T	0.32107	-0.9919	10	0.13470	T	0.59	-7.9063	10.2765	0.43512	0.0:0.566:0.0:0.434	.	688;337	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	I	688;519	ENSP00000265342:V688I	ENSP00000265342:V688I	V	-	1	0	FSTL4	132563153	0.001000	0.12720	0.000000	0.03702	0.155000	0.21991	-0.066000	0.11598	-0.143000	0.11334	0.573000	0.79308	GTA		0.617	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		25	50	0	0	0	1	0	25	50				
TTN	7273	broad.mit.edu	37	2	179655564	179655564	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179655564C>T	ENST00000591111.1	-	11	1895	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Silent_p.Q557Q|TTN_ENST00000589042.1_Silent_p.Q557Q|TTN_ENST00000342992.6_Silent_p.Q557Q			Q8WZ42	TITIN_HUMAN	titin	0					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)			TCTCAGTTTCCTGTCTTATCT	0.403																																						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.(1669-1671)caG>caA		titin							150.0	138.0	143.0					2																	179655564		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179655564C>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.1671G>A	2.37:g.179655564C>T						TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Silent_p.Q557Q|TTN_ENST00000342992.6_Silent_p.Q557Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.Q557Q|TTN_ENST00000460472.2_Intron	p.Q557Q	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)		11	1895	-			557					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	Silent	SNP	ENST00000591111.1	37	c.1671G>A																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	51	0	0	0	1	0	9	51				
CACNA2D2	9254	broad.mit.edu	37	3	50404858	50404858	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:50404858G>A	ENST00000479441.1	-	28	2388	c.2389C>T	c.(2389-2391)Cac>Tac	p.H797Y	XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.H790Y|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.H790Y|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.H797Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.H790Y|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.H721Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.H790Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.H797Y			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	797					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ACATAACCGTGGTTATCCAGG	0.612																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(2389-2391)Cac>Tac		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						70.0	64.0	66.0					3																	50404858		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50404858G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2389C>T	3.37:g.50404858G>A	ENSP00000418081:p.His797Tyr					CACNA2D2_ENST00000424201.2_Missense_Mutation_p.H790Y|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.H797Y|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.H790Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.H790Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.H790Y|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.H721Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.H797Y|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA	p.H797Y			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	28	2562	-			797					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.2389C>T	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	G	2.529	-0.308857	0.05458	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.56	4.65	0.58169	.	0.436550	0.24506	N	0.037940	T	0.46718	0.1407	N	0.22421	0.69	0.29387	N	0.862899	B;B	0.28713	0.001;0.22	B;B	0.23275	0.001;0.045	T	0.43426	-0.9392	10	0.02654	T	1	-4.3351	6.6533	0.22975	0.0947:0.0:0.6892:0.2162	.	797;790	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	Y	797;790;790;721;797;790;790;797	ENSP00000407393:H797Y;ENSP00000404631:H790Y;ENSP00000266039:H790Y;ENSP00000354228:H721Y;ENSP00000390526:H797Y;ENSP00000378519:H790Y;ENSP00000390329:H790Y;ENSP00000418081:H797Y	ENSP00000266039:H790Y	H	-	1	0	CACNA2D2	50379862	1.000000	0.71417	0.910000	0.35882	0.971000	0.66376	5.238000	0.65366	1.277000	0.44412	-0.345000	0.07892	CAC		0.612	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		11	30	0	0	0	1	0	11	30				
RIMS2	9699	broad.mit.edu	37	8	104948796	104948796	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:104948796G>T	ENST00000436393.2	+	11	1968	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	RIMS2_ENST00000262231.10_Missense_Mutation_p.R637I|RIMS2_ENST00000406091.3_Missense_Mutation_p.R798I|RIMS2_ENST00000507740.1_Missense_Mutation_p.R590I			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	860					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACAAGAGAAGAACTAAAACA	0.299										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1768-1770)aGa>aTa		regulating synaptic membrane exocytosis 2							76.0	70.0	72.0					8																	104948796		1808	4071	5879	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104948796G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1727G>T	8.37:g.104948796G>T	ENSP00000390665:p.Arg576Ile	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.R576I|RIMS2_ENST00000406091.3_Missense_Mutation_p.R798I|RIMS2_ENST00000262231.10_Missense_Mutation_p.R637I	p.R590I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		10	2005	+			860					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1769G>T		.	.	.	.	.	.	.	.	.	.	G	25.6	4.650633	0.87958	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.88779	0.6529	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D	0.76494	0.995;0.999;0.993;0.988;0.989;0.994	D;D;D;D;D;D	0.81914	0.994;0.994;0.995;0.955;0.989;0.978	D	0.91462	0.5190	9	0.87932	D	0	.	17.9807	0.89140	0.0:0.0:1.0:0.0	.	860;860;576;637;590;798	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	I	798;813;798;860;590;637;590;590;576	ENSP00000427018:R798I;ENSP00000384892:R798I;ENSP00000425205:R590I;ENSP00000262231:R637I;ENSP00000423559:R590I;ENSP00000386228:R590I;ENSP00000390665:R576I	ENSP00000262231:R637I	R	+	2	0	RIMS2	105017972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.751000	0.98889	2.309000	0.77851	0.467000	0.42956	AGA		0.299	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		9	54	1	0	0.000274275	1	0.000298793	9	54				
C3	718	broad.mit.edu	37	19	6710813	6710813	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:6710813C>A	ENST00000245907.6	-	13	1615	c.1523G>T	c.(1522-1524)cGa>cTa	p.R508L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	508					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GCCGGGCTCTCGCACCTGGCG	0.657																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(1522-1524)cGa>cTa		complement component 3							49.0	50.0	49.0					19																	6710813		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6710813C>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1523G>T	19.37:g.6710813C>A	ENSP00000245907:p.Arg508Leu						p.R508L	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	13	1615	-			508					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1523G>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192379	0.58017	.	.	ENSG00000125730	ENST00000245907	T	0.59364	0.27	5.31	3.15	0.36227	Alpha-2-macroglobulin, N-terminal 2 (1);	0.436845	0.25497	N	0.030275	T	0.74275	0.3695	M	0.86420	2.815	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65010	-0.6272	10	0.19590	T	0.45	.	10.0693	0.42324	0.0:0.7853:0.138:0.0767	.	508	P01024	CO3_HUMAN	L	508	ENSP00000245907:R508L	ENSP00000245907:R508L	R	-	2	0	C3	6661813	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.521000	0.22893	0.617000	0.30160	-0.150000	0.13652	CGA		0.657	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		12	30	1	0	5.50884e-06	1	6.29385e-06	12	30				
AFF2	2334	broad.mit.edu	37	X	148048358	148048358	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:148048358C>G	ENST00000370460.2	+	14	3431	c.2952C>G	c.(2950-2952)atC>atG	p.I984M	AFF2_ENST00000286437.5_Missense_Mutation_p.I625M|AFF2_ENST00000342251.3_Missense_Mutation_p.I951M|AFF2_ENST00000370457.5_Missense_Mutation_p.I949M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	984					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCACCATCACTGTCACCA	0.493																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2950-2952)atC>atG		AF4/FMR2 family, member 2							198.0	136.0	157.0					X																	148048358		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148048358C>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2952C>G	X.37:g.148048358C>G	ENSP00000359489:p.Ile984Met					AFF2_ENST00000370457.5_Missense_Mutation_p.I949M|AFF2_ENST00000342251.3_Missense_Mutation_p.I951M|AFF2_ENST00000286437.5_Missense_Mutation_p.I625M	p.I984M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			14	3431	+	Acute lymphoblastic leukemia(192;6.56e-05)		984					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2952C>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	0.871	-0.732157	0.03135	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.72394	-0.05;-0.32;-0.32;-0.65	4.03	0.663	0.17885	.	1.637800	0.03533	N	0.222671	T	0.53238	0.1784	N	0.08118	0	0.09310	N	0.999997	B;B;B;B;B;B	0.33044	0.395;0.343;0.343;0.343;0.343;0.395	B;B;B;B;B;B	0.39771	0.309;0.206;0.206;0.206;0.206;0.309	T	0.46205	-0.9208	10	0.33141	T	0.24	.	3.2795	0.06909	0.0:0.4743:0.2088:0.3169	.	625;949;949;945;974;984	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	M	984;949;951;625	ENSP00000359489:I984M;ENSP00000359486:I949M;ENSP00000345459:I951M;ENSP00000286437:I625M	ENSP00000286437:I625M	I	+	3	3	AFF2	147856052	0.033000	0.19621	0.466000	0.27168	0.047000	0.14425	-0.802000	0.04545	0.012000	0.14892	-0.283000	0.09986	ATC		0.493	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		27	118	0	0	0	1	0	27	118				
RAB3GAP2	25782	broad.mit.edu	37	1	220345348	220345348	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:220345348C>A	ENST00000358951.2	-	23	2576	c.2460G>T	c.(2458-2460)tgG>tgT	p.W820C		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	820					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGCTGCCACCATGGGGACA	0.473																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(2458-2460)tgG>tgT		RAB3 GTPase activating protein subunit 2 (non-catalytic)							67.0	63.0	65.0					1																	220345348		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220345348C>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2460G>T	1.37:g.220345348C>A	ENSP00000351832:p.Trp820Cys						p.W820C	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	23	2576	-			820					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2460G>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539926	0.85917	.	.	ENSG00000118873	ENST00000358951	T	0.71222	-0.55	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.83543	0.5277	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84263	0.0484	10	0.87932	D	0	.	19.8635	0.96793	0.0:1.0:0.0:0.0	.	820	Q9H2M9	RBGPR_HUMAN	C	820	ENSP00000351832:W820C	ENSP00000351832:W820C	W	-	3	0	RAB3GAP2	218411971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.042000	0.76565	2.700000	0.92200	0.650000	0.86243	TGG		0.473	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		13	34	1	0	7.93312e-07	1	9.41672e-07	13	34				
PCSK5	5125	broad.mit.edu	37	9	78794514	78794514	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:78794514C>T	ENST00000545128.1	+	15	2441	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	PCSK5_ENST00000376752.4_Missense_Mutation_p.P635S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	635					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGGAAAGGTCCCTGCGACCC	0.408																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1903-1905)Ccc>Tcc		proprotein convertase subtilisin/kexin type 5							81.0	75.0	77.0					9																	78794514		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78794514C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1903C>T	9.37:g.78794514C>T	ENSP00000446280:p.Pro635Ser					PCSK5_ENST00000376752.4_Missense_Mutation_p.P635S	p.P635S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			15	2441	+			635					F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1903C>T	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661672	0.47572	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854	T;T;T	0.64085	-0.08;1.5;-0.04	5.61	3.76	0.43208	.	0.123171	0.56097	D	0.000032	T	0.48624	0.1510	L	0.35723	1.085	0.49389	D	0.999781	B	0.23249	0.082	B	0.28916	0.096	T	0.30327	-0.9982	10	0.06625	T	0.88	-11.5995	12.0089	0.53276	0.0:0.813:0.1211:0.0659	.	635	Q92824-2	.	S	635;338;635;308	ENSP00000446280:P635S;ENSP00000365943:P635S;ENSP00000411654:P308S	ENSP00000365943:P635S	P	+	1	0	PCSK5	77984334	0.994000	0.37717	0.989000	0.46669	0.995000	0.86356	3.738000	0.55067	0.829000	0.34733	0.655000	0.94253	CCC		0.408	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	49	0	0	0	1	0	8	49				
REG1P	5969	broad.mit.edu	37	2	79365096	79365096	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:79365096G>T	ENST00000444841.1	-	0	162									regenerating islet-derived 1 pseudogene																		ATCTCACCTTGGCTCAGAGAC	0.493																																						ENST00000444841.1																			0																																																			5969							g.chr2:79365096G>T			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79365096G>T														0	162	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.493	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		6	13	1	0	0.00307968	1	0.00322431	6	13				
HERC2P2	400322	broad.mit.edu	37	15	23299992	23299992	+	RNA	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:23299992A>G	ENST00000560464.1	-	0	4295									hect domain and RLD 2 pseudogene 2																		GGGAAATCCCATCTCCATGAG	0.592																																						ENST00000560464.1																			0																																																			400322							g.chr15:23299992A>G	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299992A>G														0	4295	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.592	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			6	23	0	0	0	1	0	6	23				
SCG3	29106	broad.mit.edu	37	15	51975582	51975582	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:51975582G>T	ENST00000220478.3	+	4	751	c.348G>T	c.(346-348)ctG>ctT	p.L116L	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	116					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATCGAAAACTGATCGATGATT	0.323																																						ENST00000220478.3																			0				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(346-348)ctG>ctT		secretogranin III							112.0	119.0	117.0					15																	51975582		2195	4293	6488	SO:0001819	synonymous_variant	29106				platelet activation|platelet degranulation	extracellular region|stored secretory granule		g.chr15:51975582G>T	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.348G>T	15.37:g.51975582G>T						SCG3_ENST00000542355.2_5'UTR	p.L116L	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN		all cancers(107;0.00488)	4	751	+			116					A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	ENST00000220478.3	37	c.348G>T	CCDS10142.1																																																																																				0.323	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243		32	100	1	0	3.62531e-18	1	5.69335e-18	32	100				
PKHD1	5314	broad.mit.edu	37	6	51890828	51890828	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:51890828C>G	ENST00000371117.3	-	32	4055	c.3780G>C	c.(3778-3780)gcG>gcC	p.A1260A	PKHD1_ENST00000340994.4_Silent_p.A1260A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1260	IPT/TIG 7.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGGAGCGCCCGCATCGGGTA	0.592																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3778-3780)gcG>gcC		polycystic kidney and hepatic disease 1 (autosomal recessive)							41.0	43.0	42.0					6																	51890828		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890828C>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3780G>C	6.37:g.51890828C>G						PKHD1_ENST00000340994.4_Silent_p.A1260A	p.A1260A	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			32	4055	-	Lung NSC(77;0.0605)		1260			IPT/TIG 7.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.3780G>C	CCDS4935.1																																																																																				0.592	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		10	47	0	0	0	1	0	10	47				
C9orf152	401546	broad.mit.edu	37	9	112963681	112963681	+	Silent	SNP	C	C	G	rs111567458	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:112963681C>G	ENST00000400613.4	-	2	876	c.267G>C	c.(265-267)ctG>ctC	p.L89L	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	89										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CTTCCAGGGACAGTGAGCTTC	0.567																																						ENST00000400613.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(265-267)ctG>ctC		chromosome 9 open reading frame 152							66.0	65.0	66.0					9																	112963681		2203	4300	6503	SO:0001819	synonymous_variant	401546							g.chr9:112963681C>G	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.267G>C	9.37:g.112963681C>G						C9orf152_ENST00000473442.1_Intron	p.L89L	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN			2	876	-			89					A8MWT6	Silent	SNP	ENST00000400613.4	37	c.267G>C	CCDS35102.2																																																																																				0.567	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		22	34	0	0	0	1	0	22	34				
DAAM2	23500	broad.mit.edu	37	6	39841077	39841077	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:39841077A>C	ENST00000398904.2	+	10	1290	c.1108A>C	c.(1108-1110)Acg>Ccg	p.T370P	DAAM2_ENST00000274867.4_Missense_Mutation_p.T370P|DAAM2_ENST00000538976.1_Missense_Mutation_p.T370P			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	370	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCTGAAGTACACGGAGGCCTA	0.567																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(1108-1110)Acg>Ccg		dishevelled associated activator of morphogenesis 2							82.0	87.0	86.0					6																	39841077		2147	4242	6389	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39841077A>C	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1108A>C	6.37:g.39841077A>C	ENSP00000381876:p.Thr370Pro					DAAM2_ENST00000398904.2_Missense_Mutation_p.T370P|DAAM2_ENST00000274867.4_Missense_Mutation_p.T370P	p.T370P	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			10	1290	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		370			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1108A>C	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448785	0.84101	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.86164	-2.08;-2.08;-2.08	5.93	5.93	0.95920	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.94238	0.8150	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95370	0.8463	10	0.87932	D	0	.	16.0444	0.80711	1.0:0.0:0.0:0.0	.	370;370	G5EA45;Q86T65	.;DAAM2_HUMAN	P	370	ENSP00000274867:T370P;ENSP00000381876:T370P;ENSP00000437808:T370P	ENSP00000274867:T370P	T	+	1	0	DAAM2	39949055	1.000000	0.71417	0.997000	0.53966	0.524000	0.34500	7.356000	0.79445	2.271000	0.75665	0.459000	0.35465	ACG		0.567	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			7	17	0	0	0	1	0	7	17				
APBA2	321	broad.mit.edu	37	15	29346507	29346507	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:29346507G>A	ENST00000558402.1	+	5	1019	c.420G>A	c.(418-420)gaG>gaA	p.E140E	APBA2_ENST00000558330.1_Silent_p.E140E|APBA2_ENST00000558259.1_Silent_p.E140E|APBA2_ENST00000561069.1_Silent_p.E140E|APBA2_ENST00000411764.1_Silent_p.E140E			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	140					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGGTGGAGGAGTGGACGGACT	0.667																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(418-420)gaG>gaA		amyloid beta (A4) precursor protein-binding, family A, member 2							70.0	62.0	65.0					15																	29346507		2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346507G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.420G>A	15.37:g.29346507G>A						APBA2_ENST00000561069.1_Silent_p.E140E|APBA2_ENST00000558259.1_Silent_p.E140E|APBA2_ENST00000411764.1_Silent_p.E140E|APBA2_ENST00000558330.1_Silent_p.E140E	p.E140E			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1019	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	140					E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.420G>A	CCDS10022.1																																																																																				0.667	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		19	65	0	0	0	1	0	19	65				
ABCC9	10060	broad.mit.edu	37	12	22063220	22063220	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22063220C>G	ENST00000261201.4	-	8	1190	c.1191G>C	c.(1189-1191)agG>agC	p.R397S	ABCC9_ENST00000261200.4_Missense_Mutation_p.R397S|ABCC9_ENST00000345162.2_Missense_Mutation_p.R397S	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	397	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ACGTAGAGAGCCTAAGGATTT	0.343																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1189-1191)agG>agC		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						90.0	91.0	91.0					12																	22063220		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22063220C>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1191G>C	12.37:g.22063220C>G	ENSP00000261201:p.Arg397Ser					ABCC9_ENST00000345162.2_Missense_Mutation_p.R397S|ABCC9_ENST00000261201.4_Missense_Mutation_p.R397S	p.R397S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			8	1190	-			397			ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1191G>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259668	0.39995	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.66	-0.145	0.13436	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	M	0.82193	2.58	0.52501	D	0.999957	P;D	0.76494	0.866;0.999	P;D	0.71184	0.686;0.972	D	0.94420	0.7640	10	0.52906	T	0.07	-15.8242	10.751	0.46209	0.0:0.5708:0.0:0.4292	.	397;397	O60706;O60706-2	ABCC9_HUMAN;.	S	397;60;397;397	ENSP00000261200:R397S;ENSP00000440521:R60S;ENSP00000261201:R397S;ENSP00000261202:R397S	ENSP00000261200:R397S	R	-	3	2	ABCC9	21954487	0.510000	0.26171	0.896000	0.35187	0.913000	0.54294	-0.327000	0.07955	-0.302000	0.08869	0.650000	0.86243	AGG		0.343	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		15	48	0	0	0	1	0	15	48				
AMPD1	270	broad.mit.edu	37	1	115231344	115231344	+	Missense_Mutation	SNP	C	C	A	rs140601541		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:115231344C>A	ENST00000520113.2	-	3	167	c.152G>T	c.(151-153)cGc>cTc	p.R51L	AMPD1_ENST00000353928.6_Missense_Mutation_p.R18L|AMPD1_ENST00000369538.3_Missense_Mutation_p.R47L			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	51					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)	p.R18H(1)		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)	AGCAAAGTTGCGCATTGCATC	0.418																																						ENST00000369538.3																			1	Substitution - Missense(1)	p.R18H(1)	large_intestine(1)	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.(139-141)cGc>cTc		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						130.0	128.0	129.0					1																	115231344		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.chr1:115231344C>A	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.152G>T	1.37:g.115231344C>A	ENSP00000430075:p.Arg51Leu					AMPD1_ENST00000353928.6_Missense_Mutation_p.R18L|AMPD1_ENST00000520113.2_Missense_Mutation_p.R51L	p.R47L	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	187	-	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)	18					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.140G>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518231	0.44763	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.55588	0.51;0.51;0.51	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.36690	0.0976	L	0.32530	0.975	0.80722	D	1	B;B	0.27264	0.067;0.173	B;B	0.31101	0.027;0.124	T	0.32134	-0.9918	10	0.62326	D	0.03	-14.4529	19.7739	0.96383	0.0:1.0:0.0:0.0	.	47;18	Q5TF02;P23109	.;AMPD1_HUMAN	L	51;47;18	ENSP00000430075:R51L;ENSP00000358551:R47L;ENSP00000316520:R18L	ENSP00000316520:R18L	R	-	2	0	AMPD1	115032867	1.000000	0.71417	0.400000	0.26346	0.139000	0.21198	7.303000	0.78871	2.744000	0.94065	0.655000	0.94253	CGC		0.418	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			21	85	1	0	4.35082e-09	1	5.56174e-09	21	85				
TMEM200A	114801	broad.mit.edu	37	6	130762867	130762867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:130762867G>T	ENST00000296978.3	+	3	2171	c.1300G>T	c.(1300-1302)Gag>Tag	p.E434*	TMEM200A_ENST00000392429.1_Nonsense_Mutation_p.E434*|TMEM200A_ENST00000545622.1_Nonsense_Mutation_p.E434*	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	434						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TATGAAACTAGAGAACAAAGA	0.453																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1300-1302)Gag>Tag		transmembrane protein 200A							107.0	102.0	104.0					6																	130762867		2203	4300	6503	SO:0001587	stop_gained	114801					integral to membrane		g.chr6:130762867G>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1300G>T	6.37:g.130762867G>T	ENSP00000296978:p.Glu434*					TMEM200A_ENST00000296978.3_Nonsense_Mutation_p.E434*|TMEM200A_ENST00000545622.1_Nonsense_Mutation_p.E434*	p.E434*	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	3678	+			434					Q96PX5	Nonsense_Mutation	SNP	ENST00000296978.3	37	c.1300G>T	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	54	22.758219	0.99950	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.9651	20.4008	0.98991	0.0:0.0:1.0:0.0	.	.	.	.	X	434	.	ENSP00000296978:E434X	E	+	1	0	TMEM200A	130804560	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.624000	0.98398	2.826000	0.97356	0.655000	0.94253	GAG		0.453	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		10	44	1	0	0.000978159	1	0.00104322	10	44				
GRIN3A	116443	broad.mit.edu	37	9	104375799	104375799	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:104375799A>T	ENST00000361820.3	-	6	3225	c.2625T>A	c.(2623-2625)atT>atA	p.I875I	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	875					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GTGGGAGGCCAATGCCGTATC	0.438																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2623-2625)atT>atA		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						168.0	141.0	150.0					9																	104375799		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104375799A>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2625T>A	9.37:g.104375799A>T						GRIN3A_ENST00000479772.1_5'UTR	p.I875I	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			6	3225	-		Acute lymphoblastic leukemia(62;0.0568)	875					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.2625T>A	CCDS6758.1																																																																																				0.438	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			7	32	0	0	0	1	0	7	32				
PCDHB3	56132	broad.mit.edu	37	5	140481135	140481135	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140481135T>A	ENST00000231130.2	+	1	902	c.902T>A	c.(901-903)aTg>aAg	p.M301K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGGTGATATGCAACTGGTC	0.378																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(901-903)aTg>aAg									46.0	51.0	50.0					5																	140481135		2203	4300	6503	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481135T>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.902T>A	5.37:g.140481135T>A	ENSP00000231130:p.Met301Lys					AC005754.7_ENST00000607216.1_RNA	p.M301K	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	902	+			301			Cadherin 3.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.902T>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647828	0.47258	.	.	ENSG00000113205	ENST00000231130	T	0.61274	0.12	4.93	4.93	0.64822	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54382	0.1855	L	0.39898	1.24	0.35296	D	0.782605	B	0.30870	0.298	B	0.36808	0.233	T	0.67469	-0.5663	9	0.87932	D	0	.	14.9009	0.70678	0.0:0.0:0.0:1.0	.	301	Q9Y5E6	PCDB3_HUMAN	K	301	ENSP00000231130:M301K	ENSP00000231130:M301K	M	+	2	0	PCDHB3	140461319	0.427000	0.25514	0.438000	0.26821	0.937000	0.57800	5.376000	0.66178	1.975000	0.57531	0.533000	0.62120	ATG		0.378	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		4	37	0	0	0	1	0	4	37				
SUCLG1	8802	broad.mit.edu	37	2	84652636	84652636	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:84652636C>A	ENST00000393868.2	-	8	1127	c.917G>T	c.(916-918)gGa>gTa	p.G306V	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	306					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	ACCTTTTCCTCCAGCAATAAT	0.502																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(916-918)gGa>gTa		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						148.0	142.0	144.0					2																	84652636		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84652636C>A	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.917G>T	2.37:g.84652636C>A	ENSP00000377446:p.Gly306Val					SUCLG1_ENST00000491123.1_5'UTR	p.G306V	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN			8	1127	-			306					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.917G>T	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918904	0.92249	.	.	ENSG00000163541	ENST00000393868	D	0.83837	-1.77	5.96	5.96	0.96718	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.93523	0.7933	H	0.94658	3.565	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.94660	0.7847	10	0.87932	D	0	-17.7733	17.913	0.88940	0.0:1.0:0.0:0.0	.	306	P53597	SUCA_HUMAN	V	306	ENSP00000377446:G306V	ENSP00000377446:G306V	G	-	2	0	SUCLG1	84506147	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	GGA		0.502	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		37	132	1	0	1.04594e-18	1	1.65396e-18	37	132				
ZNF831	128611	broad.mit.edu	37	20	57766702	57766702	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57766702G>A	ENST00000371030.2	+	1	628	c.628G>A	c.(628-630)Ggg>Agg	p.G210R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	210							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGAGGGCGCCGGGGGCGGCCT	0.677																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(628-630)Ggg>Agg		zinc finger protein 831							29.0	36.0	33.0					20																	57766702		1887	4098	5985	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766702G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.628G>A	20.37:g.57766702G>A	ENSP00000360069:p.Gly210Arg						p.G210R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	628	+	all_lung(29;0.0085)		210					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.628G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458170	0.26161	.	.	ENSG00000124203	ENST00000371030	T	0.05199	3.48	4.68	2.71	0.32032	.	.	.	.	.	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	P	0.45715	0.865	B	0.32762	0.152	T	0.38090	-0.9677	9	0.66056	D	0.02	-4.5597	9.256	0.37584	0.1733:0.0:0.8267:0.0	.	210	Q5JPB2	ZN831_HUMAN	R	210	ENSP00000360069:G210R	ENSP00000360069:G210R	G	+	1	0	ZNF831	57200097	0.941000	0.31946	0.006000	0.13384	0.064000	0.16182	1.574000	0.36482	0.660000	0.30964	0.561000	0.74099	GGG		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		32	79	0	0	0	1	0	32	79				
KIAA1244	57221	broad.mit.edu	37	6	138584503	138584503	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:138584503C>G	ENST00000251691.4	+	12	2049	c.1883C>G	c.(1882-1884)tCa>tGa	p.S628*		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCCGACGTGTCAGACATTGGG	0.532																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1882-1884)tCa>tGa		KIAA1244							125.0	140.0	135.0					6																	138584503		2203	4300	6503	SO:0001587	stop_gained	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584503C>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1883C>G	6.37:g.138584503C>G	ENSP00000251691:p.Ser628*						p.S628*	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	2049	+	Breast(32;0.135)		628			SEC7.			Nonsense_Mutation	SNP	ENST00000251691.4	37	c.1883C>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	39	7.648361	0.98409	.	.	ENSG00000112379	ENST00000251691	.	.	.	5.32	5.32	0.75619	.	0.191974	0.39834	N	0.001260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.4083	19.0069	0.92854	0.0:1.0:0.0:0.0	.	.	.	.	X	628	.	ENSP00000251691:S628X	S	+	2	0	KIAA1244	138626196	1.000000	0.71417	0.964000	0.40570	0.452000	0.32318	7.506000	0.81665	2.482000	0.83794	0.655000	0.94253	TCA		0.532	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		54	155	0	0	0	1	0	54	155				
FAT4	79633	broad.mit.edu	37	4	126372739	126372739	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:126372739C>T	ENST00000394329.3	+	9	10581	c.10568C>T	c.(10567-10569)cCa>cTa	p.P3523L	FAT4_ENST00000335110.5_Missense_Mutation_p.P1821L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3523	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACAAACGGCCAGGCACTTTG	0.488																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10567-10569)cCa>cTa		FAT atypical cadherin 4							121.0	118.0	119.0					4																	126372739		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372739C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10568C>T	4.37:g.126372739C>T	ENSP00000377862:p.Pro3523Leu					FAT4_ENST00000335110.5_Missense_Mutation_p.P1821L	p.P3523L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10581	+			3523			Cadherin 34.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10568C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419708	0.62622	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.38887	1.11;1.11	5.77	5.77	0.91146	Cadherin (3);Cadherin-like (1);	0.256050	0.20011	U	0.101130	T	0.44973	0.1319	M	0.78916	2.43	0.80722	D	1	P;B;B	0.35575	0.51;0.125;0.082	B;B;B	0.32864	0.154;0.082;0.053	T	0.49051	-0.8979	10	0.07482	T	0.82	.	19.9983	0.97395	0.0:1.0:0.0:0.0	.	1821;3523;3523	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	3523;1821	ENSP00000377862:P3523L;ENSP00000335169:P1821L	ENSP00000335169:P1821L	P	+	2	0	FAT4	126592189	1.000000	0.71417	0.672000	0.29872	0.777000	0.43975	7.662000	0.83803	2.724000	0.93272	0.561000	0.74099	CCA		0.488	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		32	92	0	0	0	1	0	32	92				
MAGEB1	4112	broad.mit.edu	37	X	30269432	30269432	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:30269432G>A	ENST00000378981.3	+	4	1143	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAGEB1_ENST00000397550.1_Silent_p.P274P|MAGEB1_ENST00000397548.2_Silent_p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	274	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TATGGGGTCCGAGAGCCTATG	0.502																																						ENST00000378981.3																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(820-822)ccG>ccA		melanoma antigen family B, 1							107.0	95.0	99.0					X																	30269432		2202	4300	6502	SO:0001819	synonymous_variant	4112							g.chrX:30269432G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.822G>A	X.37:g.30269432G>A						MAGEB1_ENST00000397550.1_Silent_p.P274P|MAGEB1_ENST00000397548.2_Silent_p.P274P	p.P274P	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	1143	+			274			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	ENST00000378981.3	37	c.822G>A	CCDS14222.1																																																																																				0.502	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		23	54	0	0	0	1	0	23	54				
HEY2	23493	broad.mit.edu	37	6	126080456	126080456	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:126080456C>T	ENST00000368364.3	+	5	719	c.522C>T	c.(520-522)gcC>gcT	p.A174A	HEY2_ENST00000368365.1_Silent_p.A128A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	174					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCTCCATGGCCCACCACCATC	0.677																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(520-522)gcC>gcT		hes-related family bHLH transcription factor with YRPW motif 2							66.0	71.0	69.0					6																	126080456		2203	4298	6501	SO:0001819	synonymous_variant	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080456C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.522C>T	6.37:g.126080456C>T						HEY2_ENST00000368365.1_Silent_p.A128A	p.A174A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	719	+			174						Silent	SNP	ENST00000368364.3	37	c.522C>T	CCDS5131.1																																																																																				0.677	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			49	158	0	0	0	1	0	49	158				
DOPEY2	9980	broad.mit.edu	37	21	37609640	37609640	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:37609640G>T	ENST00000399151.3	+	16	2788	c.2703G>T	c.(2701-2703)cgG>cgT	p.R901R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	901					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGTTCTACCGGCTGCACTGCC	0.587																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2701-2703)cgG>cgT		dopey family member 2							110.0	87.0	95.0					21																	37609640		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37609640G>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2703G>T	21.37:g.37609640G>T							p.R901R	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			16	2788	+			901					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.2703G>T	CCDS13643.1																																																																																				0.587	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		7	55	1	0	5.18039e-06	1	5.95582e-06	7	55				
ST8SIA1	6489	broad.mit.edu	37	12	22440119	22440119	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22440119G>T	ENST00000396037.4	-	2	826	c.345C>A	c.(343-345)ttC>ttA	p.F115L	ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.S9*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	115					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TGTCAATGGTGAATGAGTATA	0.423																																						ENST00000539510.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(25-27)tCa>tAa		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							110.0	102.0	104.0					12																	22440119		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22440119G>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.345C>A	12.37:g.22440119G>T	ENSP00000379353:p.Phe115Leu					ST8SIA1_ENST00000396037.4_Missense_Mutation_p.F115L	p.S9*			Q92185	SIA8A_HUMAN			2	309	-			0					A8K4H6|Q17RL0|Q6PZN5|Q93064	Nonsense_Mutation	SNP	ENST00000396037.4	37	c.26C>A	CCDS8697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.741526|8.741526	0.98935|0.98935	.|.	.|.	ENSG00000111728|ENSG00000111728	ENST00000396037;ENST00000540824;ENST00000541868|ENST00000539510	T;T;T|.	0.60672|.	0.17;1.63;0.17|.	5.35|5.35	4.46|4.46	0.54185|0.54185	.|.	0.230508|.	0.45867|.	N|.	0.000326|.	T|.	0.29458|.	0.0734|.	N|N	0.11845|0.11845	0.185|0.185	0.80722|0.80722	A|A	1|1	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|.	0.29941|.	-0.9995|.	9|.	0.02654|0.08179	T|T	1|0.78	-16.689|-16.689	12.1836|12.1836	0.54226|0.54226	0.0786:0.0:0.9214:0.0|0.0786:0.0:0.9214:0.0	.|.	115|.	Q92185|.	SIA8A_HUMAN|.	L|X	115;66;92|9	ENSP00000379353:F115L;ENSP00000441707:F66L;ENSP00000440292:F92L|.	ENSP00000261197:F115L|ENSP00000446363:S9X	F|S	-|-	3|2	2|0	ST8SIA1|ST8SIA1	22331386|22331386	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	5.432000|5.432000	0.66514|0.66514	1.267000|1.267000	0.44247|0.44247	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.423	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		10	43	1	0	2.17888e-05	1	2.45258e-05	10	43				
FAM171A1	221061	broad.mit.edu	37	10	15256456	15256456	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:15256456C>G	ENST00000378116.4	-	8	1137	c.1131G>C	c.(1129-1131)ctG>ctC	p.L377L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	377						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGGTGACGGACAGCGGGCCAG	0.602																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(1129-1131)ctG>ctC		family with sequence similarity 171, member A1							44.0	50.0	48.0					10																	15256456		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15256456C>G	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1131G>C	10.37:g.15256456C>G						FAM171A1_ENST00000477161.1_5'UTR	p.L377L	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	1137	-			377					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.1131G>C	CCDS31154.1																																																																																				0.602	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		23	43	0	0	0	1	0	23	43				
TNXB	7148	broad.mit.edu	37	6	32029422	32029422	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:32029422C>A	ENST00000375244.3	-	21	7445	c.7244G>T	c.(7243-7245)gGg>gTg	p.G2415V	TNXB_ENST00000375247.2_Missense_Mutation_p.G2415V			P22105	TENX_HUMAN	tenascin XB	2475	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTTAGCTCCCCCAGGAGCGG	0.642																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7243-7245)gGg>gTg		tenascin XB							44.0	51.0	49.0					6																	32029422		1116	2481	3597	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029422C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7244G>T	6.37:g.32029422C>A	ENSP00000364393:p.Gly2415Val					TNXB_ENST00000375247.2_Missense_Mutation_p.G2415V	p.G2415V			P22105	TENX_HUMAN			21	7445	-			2475			Fibronectin type-III 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.7244G>T		.	.	.	.	.	.	.	.	.	.	C	18.22	3.575509	0.65878	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04454	3.62;3.62	4.0	4.0	0.46444	.	0.000000	0.64402	D	0.000012	T	0.15219	0.0367	M	0.90425	3.115	0.51767	D	0.999932	D	0.76494	0.999	D	0.76575	0.988	T	0.07966	-1.0745	10	0.25751	T	0.34	.	13.1106	0.59270	0.0:1.0:0.0:0.0	.	2415	P22105-3	.	V	2415	ENSP00000364393:G2415V;ENSP00000364396:G2415V	ENSP00000364393:G2415V	G	-	2	0	TNXB	32137400	0.997000	0.39634	1.000000	0.80357	0.953000	0.61014	2.798000	0.47884	2.038000	0.60285	0.591000	0.81541	GGG		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		19	79	1	0	1.36565e-18	1	2.15207e-18	19	79				
DCX	1641	broad.mit.edu	37	X	110653581	110653581	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:110653581T>C	ENST00000338081.3	-	2	460	c.289A>G	c.(289-291)Agg>Ggg	p.R97G	DCX_ENST00000356220.3_Missense_Mutation_p.R16G|DCX_ENST00000356915.2_Missense_Mutation_p.R16G|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.R16G|DCX_ENST00000488120.1_Missense_Mutation_p.R16G	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	97					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CGCATGTTCCTGGATGTCTTA	0.517																																						ENST00000338081.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(289-291)Agg>Ggg		doublecortin							129.0	116.0	121.0					X																	110653581		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653581T>C	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.289A>G	X.37:g.110653581T>C	ENSP00000337697:p.Arg97Gly					DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.R16G|DCX_ENST00000371993.2_Missense_Mutation_p.R16G|DCX_ENST00000356915.2_Missense_Mutation_p.R16G|DCX_ENST00000356220.3_Missense_Mutation_p.R16G	p.R97G	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			2	460	-			97					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.289A>G	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357829	0.61403	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	T;T;T;T;T;T	0.54279	1.41;1.43;1.31;1.41;1.43;0.58	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	L	0.41492	1.28	0.48762	D	0.999709	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.96	T	0.66156	-0.5994	10	0.59425	D	0.04	.	14.0367	0.64649	0.0:0.0:0.0:1.0	.	85;97	B4DM53;O43602	.;DCX_HUMAN	G	16;16;97;16;16;16	ENSP00000349385:R16G;ENSP00000361061:R16G;ENSP00000337697:R97G;ENSP00000348553:R16G;ENSP00000419861:R16G;ENSP00000418811:R16G	ENSP00000337697:R97G	R	-	1	2	DCX	110540237	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.999000	0.63934	1.889000	0.54706	0.417000	0.27973	AGG		0.517	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		29	75	0	0	0	1	0	29	75				
IGKV4-1	28908	broad.mit.edu	37	2	89185615	89185615	+	RNA	SNP	C	C	A	rs372416266		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:89185615C>A	ENST00000390243.2	+	0	484							P06312	KV401_HUMAN	immunoglobulin kappa variable 4-1						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCATCAGCAGCCTGCAGGCTG	0.532																																						ENST00000390243.2																			0															C		1,3859		0,1,1929	44.0	44.0	44.0			-6.2	0.0	2		44	0,8212		0,0,4106	no	intergenic				0,1,6035	AA,AC,CC		0.0,0.0259,0.0083			89185615	1,12071	1930	4106	6036			28908							g.chr2:89185615C>A	Z00023		2p11.2	2012-02-08			ENSG00000211598	ENSG00000211598		"""Immunoglobulins / IGK locus"""	5834	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV41, B3		P06312	OTTHUMG00000151533		2.37:g.89185615C>A														0	484	+									RNA	SNP	ENST00000390243.2	37																																																																																						0.532	IGKV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323037.2	NG_000834		11	35	1	0	1.08611e-07	1	1.3307e-07	11	35				
ICAM5	7087	broad.mit.edu	37	19	10403431	10403431	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:10403431C>T	ENST00000221980.4	+	5	1168	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	369	Ig-like C2-type 4.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCCCAGCTTCAGCTAAATGC	0.642																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(1105-1107)Cag>Tag		intercellular adhesion molecule 5, telencephalin							45.0	47.0	47.0					19																	10403431		2203	4300	6503	SO:0001587	stop_gained	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10403431C>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1105C>T	19.37:g.10403431C>T	ENSP00000221980:p.Gln369*						p.Q369*	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		5	1168	+			369			Ig-like C2-type 4.		Q9Y6F3	Nonsense_Mutation	SNP	ENST00000221980.4	37	c.1105C>T	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	36	5.606515	0.96626	.	.	ENSG00000105376	ENST00000221980	.	.	.	5.46	4.35	0.52113	.	0.369312	0.23706	N	0.045361	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-32.5123	12.1936	0.54284	0.1818:0.8182:0.0:0.0	.	.	.	.	X	369	.	ENSP00000221980:Q369X	Q	+	1	0	ICAM5	10264431	0.014000	0.17966	0.985000	0.45067	0.534000	0.34807	1.760000	0.38430	2.566000	0.86566	0.561000	0.74099	CAG		0.642	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		4	42	0	0	0	1	0	4	42				
CCDC47	57003	broad.mit.edu	37	17	61830158	61830158	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:61830158C>A	ENST00000225726.5	-	10	1418	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	RP11-51F16.8_ENST00000580553.1_5'Flank|CCDC47_ENST00000403162.3_Splice_Site_p.E346*|CCDC47_ENST00000582252.1_Splice_Site_p.E346*	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	346					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GGCTGACCTTCCCTGTCATAA	0.388											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000225726.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.e10-1		coiled-coil domain containing 47							98.0	95.0	96.0					17																	61830158		2203	4300	6503	SO:0001630	splice_region_variant	57003					integral to membrane	protein binding	g.chr17:61830158C>A	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1035-1G>T	17.37:g.61830158C>A			OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1056	CCDC47_ENST00000582252.1_Splice_Site_p.E346_splice|CCDC47_ENST00000403162.3_Splice_Site_p.E346_splice	p.E346_splice	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN			10	1418	-			346					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Splice_Site	SNP	ENST00000225726.5	37	c.1034_splice	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	C	38	7.008295	0.97998	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-23.6039	19.6475	0.95784	0.0:1.0:0.0:0.0	.	.	.	.	X	346	.	ENSP00000225726:E346X	E	-	1	0	CCDC47	59183890	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.562000	0.82300	2.885000	0.99019	0.655000	0.94253	GAA		0.388	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198	Nonsense_Mutation	17	50	1	0	2.35188e-11	1	3.19409e-11	17	50				
SPTBN5	51332	broad.mit.edu	37	15	42169093	42169093	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:42169093C>A	ENST00000320955.6	-	19	3992	c.3765G>T	c.(3763-3765)cgG>cgT	p.R1255R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1255					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCTCAGGAGCCGCCCAAACT	0.677																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(3763-3765)cgG>cgT		spectrin, beta, non-erythrocytic 5							21.0	28.0	26.0					15																	42169093		2046	4178	6224	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42169093C>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3765G>T	15.37:g.42169093C>A							p.R1255R	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	19	3992	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1255						Silent	SNP	ENST00000320955.6	37	c.3765G>T																																																																																					0.677	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		6	30	1	0	0.217242	1	0.218678	6	30				
DENND6B	414918	broad.mit.edu	37	22	50750771	50750771	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:50750771C>A	ENST00000413817.3	-	19	1707		c.e19+1		XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B						positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AGGCATCTTACCAGCTTCTCA	0.632																																						ENST00000413817.2																			0											c.e19+1		DENN/MADD domain containing 6B							67.0	70.0	69.0					22																	50750771		2129	4234	6363	SO:0001630	splice_region_variant	414918							g.chr22:50750771C>A	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1635+1G>T	22.37:g.50750771C>A								NM_001001794.3	NP_001001794.3					19	1707	-								A6X8I5	Splice_Site	SNP	ENST00000413817.3	37		CCDS46732.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.945933	0.73672	.	.	ENSG00000205593	ENST00000413817	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.809	0.78543	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM116B	49093343	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	5.020000	0.64066	2.471000	0.83476	0.556000	0.70494	.		0.632	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794	Intron	5	14	1	0	0.0293803	1	0.0298043	5	14				
ELMO1	9844	broad.mit.edu	37	7	36917673	36917673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:36917673G>T	ENST00000310758.4	-	19	2411	c.1764C>A	c.(1762-1764)taC>taA	p.Y588*	ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Y588*|ELMO1_ENST00000341056.3_Nonsense_Mutation_p.Y290*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Y588*|ELMO1_ENST00000396040.2_Nonsense_Mutation_p.Y108*|ELMO1_ENST00000396045.3_Nonsense_Mutation_p.Y108*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	588	PH.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTAAGTCTCCGTAATGCAGGA	0.458																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1762-1764)taC>taA		engulfment and cell motility 1							91.0	81.0	84.0					7																	36917673		2203	4300	6503	SO:0001587	stop_gained	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36917673G>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1764C>A	7.37:g.36917673G>T	ENSP00000312185:p.Tyr588*					ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Y588*|ELMO1_ENST00000341056.3_Nonsense_Mutation_p.Y290*|ELMO1_ENST00000396040.2_Nonsense_Mutation_p.Y108*|ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Y588*|ELMO1_ENST00000396045.3_Nonsense_Mutation_p.Y108*	p.Y588*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			19	2411	-			588			PH.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Nonsense_Mutation	SNP	ENST00000310758.4	37	c.1764C>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	40	8.171334	0.98688	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	.	.	.	5.81	0.387	0.16259	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8378	0.46698	0.6339:0.0:0.3661:0.0	.	.	.	.	X	290;108;588;492;108;588;588	.	ENSP00000312185:Y588X	Y	-	3	2	ELMO1	36884198	0.978000	0.34361	0.999000	0.59377	0.952000	0.60782	0.270000	0.18607	0.138000	0.18790	-0.793000	0.03317	TAC		0.458	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		4	20	1	0	3.59834e-05	1	4.03049e-05	4	20				
MT1E	4493	broad.mit.edu	37	16	56660853	56660853	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:56660853G>T	ENST00000306061.6	+	3	533	c.156G>T	c.(154-156)ggG>ggT	p.G52G	MT1E_ENST00000568293.1_Silent_p.G30G|MT1E_ENST00000330439.6_3'UTR	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E	52	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										TCTGCAAAGGGGCATCGGAGA	0.537																																						ENST00000306061.6																			0											c.(154-156)ggG>ggT		metallothionein 1E							131.0	124.0	127.0					16																	56660853		2198	4300	6498	SO:0001819	synonymous_variant	4493					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56660853G>T	BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"""Metallothioneins"""	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.156G>T	16.37:g.56660853G>T						MT1E_ENST00000568293.1_Silent_p.G30G|MT1E_ENST00000330439.6_3'UTR	p.G52G	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN			3	533	+			52			Alpha.		A2RRF7|Q86YX4|Q8TD51	Silent	SNP	ENST00000306061.6	37	c.156G>T	CCDS10764.2																																																																																				0.537	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256600.1	NM_175617		33	145	1	0	5.8336e-16	1	8.84231e-16	33	145				
DMBX1	127343	broad.mit.edu	37	1	46977890	46977890	+	Silent	SNP	G	G	C	rs373688410		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:46977890G>C	ENST00000360032.3	+	4	872	c.858G>C	c.(856-858)ccG>ccC	p.P286P	DMBX1_ENST00000371956.4_Silent_p.P291P	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1									p.P291P(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TAGGGGGTCCGGCCCCTGCTG	0.657																																						ENST00000371956.4																			1	Substitution - coding silent(1)	p.P291P(1)	ovary(1)	endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(871-873)ccG>ccC		diencephalon/mesencephalon homeobox 1							30.0	33.0	32.0					1																	46977890		2203	4299	6502	SO:0001819	synonymous_variant	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46977890G>C	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.858G>C	1.37:g.46977890G>C						DMBX1_ENST00000360032.3_Silent_p.P286P	p.P291P	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			4	888	+	Acute lymphoblastic leukemia(166;0.155)		291						Silent	SNP	ENST00000360032.3	37	c.873G>C	CCDS536.1																																																																																				0.657	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			14	36	0	0	0	1	0	14	36				
TRPA1	8989	broad.mit.edu	37	8	72971646	72971646	+	Silent	SNP	T	T	C	rs375268460		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:72971646T>C	ENST00000262209.4	-	8	1179	c.972A>G	c.(970-972)ctA>ctG	p.L324L		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	324					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATAGTCTGCTAGCTCATGGT	0.229																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(970-972)ctA>ctG		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	T		1,4321		0,1,2160	19.0	22.0	21.0		972	-3.0	1.0	8		21	0,8408		0,0,4204	no	coding-synonymous	TRPA1	NM_007332.2		0,1,6364	CC,CT,TT		0.0,0.0231,0.0079		324/1120	72971646	1,12729	2161	4204	6365	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72971646T>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.972A>G	8.37:g.72971646T>C							p.L324L	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		8	1179	-			324					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.972A>G	CCDS34908.1																																																																																				0.229	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		14	16	0	0	0	1	0	14	16				
ADAMTS3	9508	broad.mit.edu	37	4	73164122	73164122	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:73164122G>T	ENST00000286657.4	-	18	2498	c.2462C>A	c.(2461-2463)aCa>aAa	p.T821K		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	821	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACTTATATGTCAGGCTAGA	0.358																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2461-2463)aCa>aAa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							150.0	133.0	138.0					4																	73164122		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73164122G>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2462C>A	4.37:g.73164122G>T	ENSP00000286657:p.Thr821Lys						p.T821K	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		18	2498	-			821			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2462C>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758895	0.49468	.	.	ENSG00000156140	ENST00000286657	T	0.47528	0.84	5.74	5.74	0.90152	ADAM-TS Spacer 1 (1);	0.058607	0.64402	D	0.000002	T	0.46658	0.1404	N	0.25380	0.74	0.53005	D	0.999962	B	0.31256	0.316	P	0.44447	0.45	T	0.20706	-1.0267	10	0.08837	T	0.75	.	19.9189	0.97077	0.0:0.0:1.0:0.0	.	821	O15072	ATS3_HUMAN	K	821	ENSP00000286657:T821K	ENSP00000286657:T821K	T	-	2	0	ADAMTS3	73382986	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	4.228000	0.58619	2.707000	0.92482	0.655000	0.94253	ACA		0.358	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			11	75	1	0	1.61879e-10	1	2.12583e-10	11	75				
CECR2	27443	broad.mit.edu	37	22	18022521	18022521	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:18022521C>A	ENST00000400585.2	+	16	2638	c.2200C>A	c.(2200-2202)Ccc>Acc	p.P734T	CECR2_ENST00000400573.5_Missense_Mutation_p.P875T|CECR2_ENST00000262608.8_Missense_Mutation_p.P876T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	917					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCGCGTCTGCCCCCCAGGTGT	0.642																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2626-2628)Ccc>Acc		cat eye syndrome chromosome region, candidate 2							58.0	67.0	64.0					22																	18022521		2053	4191	6244	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022521C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2200C>A	22.37:g.18022521C>A	ENSP00000383428:p.Pro734Thr					CECR2_ENST00000400585.2_Missense_Mutation_p.P734T|CECR2_ENST00000400573.4_Missense_Mutation_p.P875T	p.P876T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2626	+		all_epithelial(15;0.139)	917					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2626C>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.946019	0.73672	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.37752	1.25;1.25;1.18	5.11	4.07	0.47477	.	0.119070	0.37955	N	0.001865	T	0.48909	0.1526	M	0.69823	2.125	0.45979	D	0.998793	P;D;D	0.56035	0.931;0.974;0.974	P;P;P	0.50352	0.522;0.638;0.638	T	0.58075	-0.7700	10	0.72032	D	0.01	-5.8615	15.5609	0.76244	0.0:0.8617:0.1383:0.0	.	917;734;875	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	T	734;875;876	ENSP00000383428:P734T;ENSP00000383417:P875T;ENSP00000262608:P876T	ENSP00000262608:P876T	P	+	1	0	CECR2	16402521	1.000000	0.71417	0.937000	0.37676	0.979000	0.70002	4.785000	0.62418	1.342000	0.45619	0.561000	0.74099	CCC		0.642	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		42	97	1	0	2.46787e-29	1	4.09371e-29	42	97				
VPS13C	54832	broad.mit.edu	37	15	62167138	62167138	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:62167138C>T	ENST00000261517.5	-	77	10424	c.10351G>A	c.(10351-10353)Ggc>Agc	p.G3451S	VPS13C_ENST00000395898.3_Missense_Mutation_p.G3408S|VPS13C_ENST00000249837.3_Missense_Mutation_p.G3408S|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395896.4_Missense_Mutation_p.G3451S	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTCAGGGCCTTGAACAGCA	0.323																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(10351-10353)Ggc>Agc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							91.0	90.0	91.0					15																	62167138		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62167138C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10351G>A	15.37:g.62167138C>T	ENSP00000261517:p.Gly3451Ser					VPS13C_ENST00000395896.4_Missense_Mutation_p.G3451S|VPS13C_ENST00000249837.3_Missense_Mutation_p.G3408S|VPS13C_ENST00000395898.3_Missense_Mutation_p.G3408S	p.G3451S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			77	10424	-			3451						Missense_Mutation	SNP	ENST00000261517.5	37	c.10351G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498936	0.96355	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.55930	0.49;0.49;0.64	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.64630	1.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.68303	-0.5444	10	0.41790	T	0.15	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	3408;3451;3408;3451	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	S	3408;3451;3451;3451	ENSP00000249837:G3408S;ENSP00000261517:G3451S;ENSP00000379233:G3451S	ENSP00000249837:G3408S	G	-	1	0	VPS13C	59954430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.036000	0.76524	2.761000	0.94854	0.650000	0.86243	GGC		0.323	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		29	110	0	0	0	1	0	29	110				
SSPO	23145	broad.mit.edu	37	7	149508765	149508765	+	RNA	SNP	C	C	A	rs373187002		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:149508765C>A	ENST00000378016.2	+	0	9504							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGTGTCTCCGGGCTCATCG	0.627																																						ENST00000378016.2																			0													SCO-spondin							83.0	93.0	89.0					7																	149508765		2131	4239	6370			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149508765C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149508765C>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9504	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.627	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	133	1	0	0.00909568	1	0.00940436	4	133				
SDR9C7	121214	broad.mit.edu	37	12	57323207	57323207	+	Silent	SNP	G	G	T	rs540839114		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:57323207G>T	ENST00000293502.1	-	3	834	c.691C>A	c.(691-693)Cgg>Agg	p.R231R		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	231					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TAGCTGTCCCGGGTCTCCTGA	0.582																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(691-693)Cgg>Agg		short chain dehydrogenase/reductase family 9C, member 7							91.0	80.0	84.0					12																	57323207		2203	4300	6503	SO:0001819	synonymous_variant	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57323207G>T	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.691C>A	12.37:g.57323207G>T							p.R231R	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			3	834	-			231					B3KVB4	Silent	SNP	ENST00000293502.1	37	c.691C>A	CCDS8926.1																																																																																				0.582	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		29	78	1	0	1.32181e-22	1	2.15738e-22	29	78				
OR5M8	219484	broad.mit.edu	37	11	56257933	56257933	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56257933G>C	ENST00000327216.2	-	1	938	c.914C>G	c.(913-915)tCa>tGa	p.S305*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TATCTTCATTGACAGCTCTTT	0.303																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(913-915)tCa>tGa		olfactory receptor, family 5, subfamily M, member 8							29.0	33.0	32.0					11																	56257933		2196	4282	6478	SO:0001587	stop_gained	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56257933G>C	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.914C>G	11.37:g.56257933G>C	ENSP00000323354:p.Ser305*						p.S305*	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	938	-	Esophageal squamous(21;0.00352)		305					B2RNM5|Q6IEW3|Q96RB8	Nonsense_Mutation	SNP	ENST00000327216.2	37	c.914C>G	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	7.394	0.631381	0.14322	.	.	ENSG00000181371	ENST00000327216	.	.	.	3.71	-2.66	0.06077	.	1.157700	0.07002	U	0.823461	.	.	.	.	.	.	0.27018	N	0.964526	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	0.1694	1.1331	0.01749	0.3882:0.1483:0.3145:0.149	.	.	.	.	X	305	.	ENSP00000323354:S305X	S	-	2	0	OR5M8	56014509	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	-0.040000	0.12104	-0.230000	0.09840	-0.162000	0.13425	TCA		0.303	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		5	18	0	0	0	1	0	5	18				
SCTR	6344	broad.mit.edu	37	2	120204415	120204415	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:120204415G>C	ENST00000019103.5	-	11	1327	c.1060C>G	c.(1060-1062)Cac>Gac	p.H354D		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	354					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ACGATGTAGTGGATGCCAAAG	0.582																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.(1060-1062)Cac>Gac		secretin receptor	Secretin(DB00021)						96.0	95.0	96.0					2																	120204415		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120204415G>C		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.1060C>G	2.37:g.120204415G>C	ENSP00000019103:p.His354Asp						p.H354D	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			11	1327	-			354					Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.1060C>G	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827109	0.90955	.	.	ENSG00000080293	ENST00000019103	T	0.46063	0.88	5.34	5.34	0.76211	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000005	T	0.77329	0.4114	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84921	0.0854	10	0.87932	D	0	.	18.2135	0.89878	0.0:0.0:1.0:0.0	.	354	P47872	SCTR_HUMAN	D	354	ENSP00000019103:H354D	ENSP00000019103:H354D	H	-	1	0	SCTR	119920885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.548000	0.98103	2.776000	0.95493	0.655000	0.94253	CAC		0.582	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			20	106	0	0	0	1	0	20	106				
ACLY	47	broad.mit.edu	37	17	40042498	40042498	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:40042498G>A	ENST00000352035.2	-	18	2069	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ACLY_ENST00000393896.2_Silent_p.L637L|ACLY_ENST00000590151.1_Silent_p.L647L|ACLY_ENST00000537919.1_Silent_p.L376L|ACLY_ENST00000353196.1_Silent_p.L637L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	647					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TTGGAGGCCAGGATGTTGTCC	0.562																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1939-1941)Ctg>Ttg		ATP citrate lyase							132.0	100.0	111.0					17																	40042498		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40042498G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1939C>T	17.37:g.40042498G>A						ACLY_ENST00000393896.2_Silent_p.L637L|ACLY_ENST00000353196.1_Silent_p.L637L|ACLY_ENST00000590151.1_Silent_p.L647L|ACLY_ENST00000537919.1_Silent_p.L376L	p.L647L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			18	2069	-		Breast(137;0.000143)	647					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.1939C>T	CCDS11412.1																																																																																				0.562	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		27	77	0	0	0	1	0	27	77				
ZNF536	9745	broad.mit.edu	37	19	30935392	30935392	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:30935392C>A	ENST00000355537.3	+	2	1070	c.923C>A	c.(922-924)gCg>gAg	p.A308E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	308					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCGACTTCGCGGCTTCGCAG	0.642																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(922-924)gCg>gAg		zinc finger protein 536							76.0	85.0	82.0					19																	30935392		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935392C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.923C>A	19.37:g.30935392C>A	ENSP00000347730:p.Ala308Glu						p.A308E	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1070	+	Esophageal squamous(110;0.0834)		308					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.923C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346377	0.41599	.	.	ENSG00000198597	ENST00000355537	T	0.30714	1.52	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52109	-0.8619	10	0.72032	D	0.01	-25.2974	19.5661	0.95393	0.0:1.0:0.0:0.0	.	308;308	A7E228;O15090	.;ZN536_HUMAN	E	308	ENSP00000347730:A308E	ENSP00000347730:A308E	A	+	2	0	ZNF536	35627232	1.000000	0.71417	0.962000	0.40283	0.740000	0.42216	7.788000	0.85771	2.631000	0.89168	0.491000	0.48974	GCG		0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		60	143	1	0	1.72039e-30	1	2.86941e-30	60	143				
CIR1	9541	broad.mit.edu	37	2	175246483	175246483	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:175246483C>A	ENST00000342016.3	-	3	282	c.190G>T	c.(190-192)Gta>Tta	p.V64L	CIR1_ENST00000362053.5_Missense_Mutation_p.V64L	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	64	Interaction with RBPJ.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CCATTCTTTACACGTTCATCT	0.323																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(190-192)Gta>Tta		corepressor interacting with RBPJ, 1							185.0	208.0	201.0					2																	175246483		2203	4300	6503	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175246483C>A	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.190G>T	2.37:g.175246483C>A	ENSP00000339723:p.Val64Leu					CIR1_ENST00000362053.5_Missense_Mutation_p.V64L	p.V64L	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			3	282	-			64			Interaction with RBPJ.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.190G>T	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104201	0.56291	.	.	ENSG00000138433	ENST00000342016	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	L	0.42581	1.335	0.53688	D	0.999973	D	0.76494	0.999	D	0.76071	0.987	T	0.68622	-0.5360	9	0.28530	T	0.3	.	19.3879	0.94565	0.0:1.0:0.0:0.0	.	64	Q86X95	CIR1_HUMAN	L	64	.	ENSP00000339723:V64L	V	-	1	0	CIR1	174954729	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.770000	0.85390	2.591000	0.87537	0.650000	0.86243	GTA		0.323	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		57	198	1	0	3.53049e-34	1	5.91001e-34	57	198				
OR2T33	391195	broad.mit.edu	37	1	248436631	248436631	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248436631C>A	ENST00000318021.2	-	1	507	c.486G>T	c.(484-486)ctG>ctT	p.L162L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGAAGCTCAGGGTAACAA	0.562																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(484-486)ctG>ctT		olfactory receptor, family 2, subfamily T, member 33							63.0	65.0	64.0					1																	248436631		2203	4300	6503	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436631C>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.486G>T	1.37:g.248436631C>A							p.L162L	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	507	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		162					B2RNN0	Silent	SNP	ENST00000318021.2	37	c.486G>T	CCDS31109.1																																																																																				0.562	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		7	63	1	0	3.07112e-06	1	3.55317e-06	7	63				
GPANK1	7918	broad.mit.edu	37	6	31630102	31630102	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:31630102C>T	ENST00000375906.1	-	4	1696	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	C6orf47_ENST00000375911.1_5'Flank|C6orf47-AS1_ENST00000422049.1_RNA|GPANK1_ENST00000375900.4_Missense_Mutation_p.E338K|GPANK1_ENST00000375895.2_Missense_Mutation_p.E338K|GPANK1_ENST00000375893.2_Missense_Mutation_p.E338K|CSNK2B_ENST00000375885.4_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375896.4_Missense_Mutation_p.E338K	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	338							nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TCTTTCTCCTCCCTCCTTCTC	0.567																																						ENST00000375906.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						c.(1012-1014)Gag>Aag		G patch domain and ankyrin repeats 1							135.0	124.0	128.0					6																	31630102		1511	2709	4220	SO:0001583	missense	7918					intracellular	nucleic acid binding	g.chr6:31630102C>T		CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"""Ankyrin repeat domain containing"", ""G patch domain containing"""	13920	protein-coding gene	gene with protein product	"""G patch domain containing 10"", ""ankyrin repeat domain 59"""	142610	"""HLA-B associated transcript 4"""	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.1012G>A	6.37:g.31630102C>T	ENSP00000365071:p.Glu338Lys					GPANK1_ENST00000375896.4_Missense_Mutation_p.E338K|GPANK1_ENST00000375893.2_Missense_Mutation_p.E338K|GPANK1_ENST00000375900.4_Missense_Mutation_p.E338K|GPANK1_ENST00000375895.2_Missense_Mutation_p.E338K	p.E338K	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN			4	1696	-			338					A6NG25|B0UXA2|Q5SQ49	Missense_Mutation	SNP	ENST00000375906.1	37	c.1012G>A	CCDS4711.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578580	0.28180	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99	5.0	2.25	0.28309	.	0.254163	0.36932	N	0.002329	T	0.04182	0.0116	M	0.67953	2.075	0.32013	N	0.601813	B	0.12630	0.006	B	0.15052	0.012	T	0.18493	-1.0335	10	0.48119	T	0.1	0.1116	5.4612	0.16617	0.0:0.5135:0.3138:0.1727	.	338	O95872	GPAN1_HUMAN	K	338	ENSP00000365071:E338K;ENSP00000365060:E338K;ENSP00000365057:E338K;ENSP00000365059:E338K;ENSP00000365065:E338K	ENSP00000365057:E338K	E	-	1	0	GPANK1	31738081	0.804000	0.28969	0.444000	0.26895	0.258000	0.26162	1.440000	0.35024	0.290000	0.22444	0.655000	0.94253	GAG		0.567	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144445.2	NM_033177		22	77	0	0	0	1	0	22	77				
SYNE1	23345	broad.mit.edu	37	6	152823790	152823790	+	Missense_Mutation	SNP	C	C	A	rs139190745	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:152823790C>A	ENST00000367255.5	-	10	1467	c.866G>T	c.(865-867)aGc>aTc	p.S289I	SYNE1_ENST00000423061.1_Missense_Mutation_p.S296I|SYNE1_ENST00000367253.4_Missense_Mutation_p.S289I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S296I|SYNE1_ENST00000466159.2_Missense_Mutation_p.S289I|SYNE1_ENST00000413186.2_Missense_Mutation_p.S289I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S289I|SYNE1_ENST00000367248.3_Missense_Mutation_p.S296I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S289I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	289	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCATCAGTGCTTGCATTGTG	0.378										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(865-867)aGc>aTc		spectrin repeat containing, nuclear envelope 1							169.0	144.0	152.0					6																	152823790		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152823790C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.866G>T	6.37:g.152823790C>A	ENSP00000356224:p.Ser289Ile	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.S289I|SYNE1_ENST00000466159.2_Missense_Mutation_p.S289I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S296I|SYNE1_ENST00000367253.4_Missense_Mutation_p.S289I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S296I|SYNE1_ENST00000413186.2_Missense_Mutation_p.S289I|SYNE1_ENST00000367248.3_Missense_Mutation_p.S296I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S289I	p.S289I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	10	1467	-		Ovarian(120;0.0955)	289			Actin-binding.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.866G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	1.212	-0.629527	0.03610	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.91351	0.58;0.58;0.49;0.58;0.69;-2.27;-2.31;-2.41;-2.72;-2.83	4.83	2.89	0.33648	.	0.481200	0.16817	U	0.198314	T	0.71643	0.3364	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.22604	0.002;0.012;0.0;0.012;0.072	B;B;B;B;B	0.20384	0.002;0.004;0.001;0.004;0.029	T	0.63175	-0.6696	10	0.38643	T	0.18	.	7.5448	0.27759	0.2896:0.3711:0.3392:0.0	.	289;289;289;289;296	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	I	289;296;289;296;289;289;296;289;289;289	ENSP00000356224:S289I;ENSP00000396024:S296I;ENSP00000265368:S289I;ENSP00000390975:S296I;ENSP00000341887:S289I;ENSP00000356222:S289I;ENSP00000356217:S296I;ENSP00000414510:S289I;ENSP00000446021:S289I;ENSP00000441264:S289I	ENSP00000265368:S289I	S	-	2	0	SYNE1	152865483	0.002000	0.14202	0.005000	0.12908	0.026000	0.11368	1.283000	0.33237	1.023000	0.39654	-0.210000	0.12710	AGC		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	31	1	0	2.0095e-06	1	2.3487e-06	7	31				
BIRC6	57448	broad.mit.edu	37	2	32832521	32832521	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:32832521G>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTATTCTTTAGGTGTTGGTGT	0.403																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e72-1		baculoviral IAP repeat containing 6							167.0	167.0	167.0					2																	32832521		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832521G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14071-1G>T	2.37:g.32832521G>T								NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			72	14204	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278437	0.59758	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9785	0.92747	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32686025	1.000000	0.71417	0.996000	0.52242	0.470000	0.32858	9.864000	0.99589	2.463000	0.83235	0.585000	0.79938	.		0.403	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	18	104	1	0	5.35267e-07	1	6.39521e-07	18	104				
TAL1	6886	broad.mit.edu	37	1	47685465	47685465	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:47685465G>T	ENST00000294339.3	-	4	1499	c.923C>A	c.(922-924)cCc>cAc	p.P308H	TAL1_ENST00000371883.3_Missense_Mutation_p.P310H|TAL1_ENST00000371884.2_Missense_Mutation_p.P308H|TAL1_ENST00000459729.1_5'UTR	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	308					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TTTGGGCGCGGGCTCCTCCGT	0.697			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	ENST00000371883.3				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	"""TRD@, SIL"""		lymphoblastic leukemia/biphasic		0				haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(928-930)cCc>cAc		T-cell acute lymphocytic leukemia 1							25.0	30.0	29.0					1																	47685465		2197	4294	6491	SO:0001583	missense	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47685465G>T	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.923C>A	1.37:g.47685465G>T	ENSP00000294339:p.Pro308His					TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Missense_Mutation_p.P308H|TAL1_ENST00000371884.2_Missense_Mutation_p.P308H	p.P310H			P17542	TAL1_HUMAN			4	1505	-			308					D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	c.929C>A	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834542	0.32421	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97352	-4.35;-4.35;-4.35	5.05	4.14	0.48551	.	0.219202	0.39985	N	0.001220	D	0.89332	0.6685	N	0.08118	0	0.35827	D	0.825015	B	0.10296	0.003	B	0.10450	0.005	D	0.83714	0.0189	10	0.12103	T	0.63	.	6.0698	0.19883	0.3345:0.0:0.6655:0.0	.	308	P17542	TAL1_HUMAN	H	308;310;308	ENSP00000360951:P308H;ENSP00000360950:P310H;ENSP00000294339:P308H	ENSP00000294339:P308H	P	-	2	0	TAL1	47458052	1.000000	0.71417	0.955000	0.39395	0.458000	0.32498	5.354000	0.66040	1.140000	0.42260	0.478000	0.44815	CCC		0.697	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		20	67	1	0	1.2644e-06	1	1.49311e-06	20	67				
NSDHL	50814	broad.mit.edu	37	X	152036165	152036165	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:152036165G>A	ENST00000370274.3	+	7	931	c.737G>A	c.(736-738)gGa>gAa	p.G246E	NSDHL_ENST00000440023.1_Missense_Mutation_p.G246E	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	246					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGTCCATGGACACATCCTG	0.587																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(736-738)gGa>gAa		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						117.0	80.0	92.0					X																	152036165		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152036165G>A	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.737G>A	X.37:g.152036165G>A	ENSP00000359297:p.Gly246Glu					NSDHL_ENST00000440023.1_Missense_Mutation_p.G246E	p.G246E	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			7	931	+	Acute lymphoblastic leukemia(192;6.56e-05)		246					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.737G>A	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412153	0.83340	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.89196	-2.48;-2.48;-2.48	5.29	5.29	0.74685	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.102557	0.64402	D	0.000003	D	0.95404	0.8508	M	0.91038	3.17	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.96359	0.9264	10	0.87932	D	0	-2.2275	15.269	0.73683	0.0:0.0:1.0:0.0	.	246	Q15738	NSDHL_HUMAN	E	246	ENSP00000359297:G246E;ENSP00000391854:G246E;ENSP00000396266:G246E	ENSP00000359297:G246E	G	+	2	0	NSDHL	151786821	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	9.609000	0.98334	2.195000	0.70347	0.513000	0.50165	GGA		0.587	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		18	80	0	0	0	1	0	18	80				
NPAP1	23742	broad.mit.edu	37	15	24923625	24923625	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:24923625G>T	ENST00000329468.2	+	1	3085	c.2611G>T	c.(2611-2613)Gtc>Ttc	p.V871F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	871					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CTCAGCCCAAGTCTCCACCAG	0.502																																						ENST00000329468.2																			0											c.(2611-2613)Gtc>Ttc		nuclear pore associated protein 1							105.0	101.0	102.0					15																	24923625		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24923625G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2611G>T	15.37:g.24923625G>T	ENSP00000333735:p.Val871Phe						p.V871F	NM_018958.2	NP_061831.2					1	3085	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.2611G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.52	1.961622	0.34659	.	.	ENSG00000185823	ENST00000329468	T	0.09630	2.96	1.5	0.544	0.17185	.	.	.	.	.	T	0.06096	0.0158	N	0.22421	0.69	0.09310	N	1	D	0.53462	0.96	B	0.41332	0.354	T	0.32079	-0.9920	9	0.34782	T	0.22	.	3.5976	0.08012	0.26:0.0:0.74:0.0	.	871	Q9NZP6	CO002_HUMAN	F	871	ENSP00000333735:V871F	ENSP00000333735:V871F	V	+	1	0	C15orf2	22474718	0.000000	0.05858	0.000000	0.03702	0.211000	0.24417	-0.210000	0.09345	0.208000	0.20626	0.205000	0.17691	GTC		0.502	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		21	77	1	0	7.41877e-09	1	9.39163e-09	21	77				
GABRA2	2555	broad.mit.edu	37	4	46388145	46388145	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:46388145T>C	ENST00000510861.1	-	3	306	c.133A>G	c.(133-135)Att>Gtt	p.I45V	GABRA2_ENST00000381620.4_Missense_Mutation_p.I45V|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000514090.1_Missense_Mutation_p.I45V|GABRA2_ENST00000507460.1_Missense_Mutation_p.I45V|GABRA2_ENST00000515082.1_Missense_Mutation_p.I45V|GABRA2_ENST00000356504.1_Missense_Mutation_p.I45V|GABRA2_ENST00000540012.1_Silent_p.E12E|GABRA2_ENST00000507069.1_Missense_Mutation_p.I45V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	45					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTGTCAAGAATTCTCGTAAAG	0.348																																						ENST00000507460.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(133-135)Att>Gtt		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						89.0	83.0	85.0					4																	46388145		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46388145T>C		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.133A>G	4.37:g.46388145T>C	ENSP00000421828:p.Ile45Val					GABRA2_ENST00000540012.1_Silent_p.E12E|GABRA2_ENST00000507069.1_Missense_Mutation_p.I45V|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000515082.1_Missense_Mutation_p.I45V|GABRA2_ENST00000381620.4_Missense_Mutation_p.I45V|GABRA2_ENST00000514090.1_Missense_Mutation_p.I45V|GABRA2_ENST00000510861.1_Missense_Mutation_p.I45V|GABRA2_ENST00000356504.1_Missense_Mutation_p.I45V	p.I45V			P47869	GBRA2_HUMAN			3	465	-			45					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.133A>G	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.992926	0.74703	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961;ENST00000507460	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.01	5.01	0.66863	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85716	0.5761	M	0.62016	1.91	0.80722	D	1	D;D;D	0.67145	0.99;0.995;0.996	D;D;D	0.80764	0.986;0.992;0.994	D	0.87163	0.2216	10	0.72032	D	0.01	.	14.0566	0.64774	0.0:0.0:0.0:1.0	.	45;45;45	D6RAA9;G5E9Z6;P47869	.;.;GBRA2_HUMAN	V	45	ENSP00000421828:I45V;ENSP00000421300:I45V;ENSP00000371033:I45V;ENSP00000348897:I45V;ENSP00000427603:I45V;ENSP00000423840:I45V;ENSP00000424362:I45V;ENSP00000424093:I45V	ENSP00000348897:I45V	I	-	1	0	GABRA2	46082902	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.939000	0.75911	2.100000	0.63781	0.477000	0.44152	ATT		0.348	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			10	43	0	0	0	1	0	10	43				
ADAMTS12	81792	broad.mit.edu	37	5	33576271	33576271	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:33576271T>A	ENST00000504830.1	-	19	4195	c.3860A>T	c.(3859-3861)gAg>gTg	p.E1287V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1202V|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1287	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCATCCTCCTCAGTCAGGAC	0.493										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3859-3861)gAg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 12							220.0	219.0	219.0					5																	33576271		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576271T>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3860A>T	5.37:g.33576271T>A	ENSP00000422554:p.Glu1287Val	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1202V	p.E1287V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	4195	-			1287			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3860A>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.147053	0.37923	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61040	0.15;0.14	5.47	5.47	0.80525	.	1.351460	0.04237	N	0.336216	T	0.60274	0.2256	L	0.32530	0.975	0.80722	D	1	P;P	0.50272	0.933;0.89	P;P	0.53689	0.732;0.544	T	0.49995	-0.8879	10	0.32370	T	0.25	.	6.8833	0.24185	0.0:0.078:0.1522:0.7698	.	1202;1287	P58397-3;P58397	.;ATS12_HUMAN	V	1287;1202	ENSP00000422554:E1287V;ENSP00000344847:E1202V	ENSP00000344847:E1202V	E	-	2	0	ADAMTS12	33612028	0.970000	0.33590	0.977000	0.42913	0.890000	0.51754	4.468000	0.60162	2.074000	0.62210	0.533000	0.62120	GAG		0.493	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		58	261	0	0	0	1	0	58	261				
DGKI	9162	broad.mit.edu	37	7	137271855	137271855	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:137271855G>T	ENST00000288490.5	-	13	1413	c.1413C>A	c.(1411-1413)ctC>ctA	p.L471L	DGKI_ENST00000424189.2_Silent_p.L471L|DGKI_ENST00000446122.1_Silent_p.L471L|DGKI_ENST00000453654.2_Silent_p.L171L	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	471	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTCCCCAGTTGAGAGTTCGAG	0.557																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(511-513)ctC>ctA		diacylglycerol kinase, iota							87.0	78.0	81.0					7																	137271855		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137271855G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1413C>A	7.37:g.137271855G>T						DGKI_ENST00000288490.5_Silent_p.L471L|DGKI_ENST00000446122.1_Silent_p.L471L|DGKI_ENST00000424189.2_Silent_p.L471L	p.L171L			O75912	DGKI_HUMAN			13	1052	-			471					A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.513C>A	CCDS5845.1																																																																																				0.557	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		14	70	1	0	3.52763e-06	1	4.0659e-06	14	70				
USP34	9736	broad.mit.edu	37	2	61411929	61411929	+	IGR	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:61411929C>A	ENST00000398571.2	-	0	11357				AHSA2_ENST00000394457.3_Silent_p.T23T|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Silent_p.T23T|AHSA2_ENST00000410073.1_Silent_p.T23T	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTGGGAATACCCTGCAGGTAT	0.453																																						ENST00000394457.2																			0				breast(1)|lung(3)|prostate(1)	5						c.(67-69)acC>acA		AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)							62.0	63.0	63.0					2																	61411929		2203	4300	6503	SO:0001628	intergenic_variant	130872				response to stress	cytoplasm	ATPase activator activity|chaperone binding	g.chr2:61411929C>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265		2.37:g.61411929C>A						AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Silent_p.T23T|AHSA2_ENST00000357022.2_Silent_p.T23T	p.T23T	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	Epithelial(17;0.0994)		3	1812	+			185					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.69C>A	CCDS42686.1																																																																																				0.453	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			9	42	1	0	4.84862e-15	1	7.20591e-15	9	42				
LRP1B	53353	broad.mit.edu	37	2	140995762	140995762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:140995762C>A	ENST00000389484.3	-	89	14490	c.13519G>T	c.(13519-13521)Gga>Tga	p.G4507*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4507					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAAGACCTCCATCGTTGTGA	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(13519-13521)Gga>Tga		low density lipoprotein receptor-related protein 1B							200.0	185.0	190.0					2																	140995762		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140995762C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13519G>T	2.37:g.140995762C>A	ENSP00000374135:p.Gly4507*	TSP Lung(27;0.18)					p.G4507*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	89	14490	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4507					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.13519G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	57|57	28.664916|28.664916	0.99974|0.99974	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	.|.	.|.	.|.	5.81|5.81	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.55000	.|0.1893	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62877	.|-0.6761	.|3	0.87932|.	D|.	0|.	.|.	10.6933|10.6933	0.45884|0.45884	0.0:0.7955:0.1337:0.0709|0.0:0.7955:0.1337:0.0709	.|.	.|.	.|.	.|.	X|I	4507;4445|738;276	.|.	ENSP00000374135:G4507X|.	G|M	-|-	1|3	0|0	LRP1B|LRP1B	140712232|140712232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	3.596000|3.596000	0.54024|0.54024	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GGA|ATG		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	48	1	0	2.37509e-13	1	3.40256e-13	19	48				
ABCC12	94160	broad.mit.edu	37	16	48172225	48172225	+	Missense_Mutation	SNP	C	C	A	rs535899598		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:48172225C>A	ENST00000311303.3	-	6	1238	c.893G>T	c.(892-894)cGa>cTa	p.R298L	ABCC12_ENST00000448542.1_Missense_Mutation_p.R298L|ABCC12_ENST00000416054.1_Missense_Mutation_p.R298L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	298	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTCTGAACTCGCTTGTCTGT	0.418																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(892-894)cGa>cTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							115.0	103.0	107.0					16																	48172225		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48172225C>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.893G>T	16.37:g.48172225C>A	ENSP00000311030:p.Arg298Leu					ABCC12_ENST00000416054.1_Missense_Mutation_p.R298L|ABCC12_ENST00000448542.1_Missense_Mutation_p.R298L	p.R298L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			6	1238	-		all_cancers(37;0.0474)|all_lung(18;0.047)	298			ABC transmembrane type-1 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.893G>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639763	0.87760	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.88431	-2.38;-2.38;-2.38	5.62	4.67	0.58626	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	M	0.89414	3.03	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.995	D	0.95554	0.8623	10	0.87932	D	0	.	13.659	0.62354	0.0:0.9242:0.0:0.0758	.	298;298	Q96J65-2;Q96J65	.;MRP9_HUMAN	L	298;298;240;298	ENSP00000311030:R298L;ENSP00000401855:R298L;ENSP00000413046:R298L	ENSP00000311030:R298L	R	-	2	0	ABCC12	46729726	0.994000	0.37717	0.990000	0.47175	0.882000	0.50991	6.518000	0.73764	1.357000	0.45904	0.655000	0.94253	CGA		0.418	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		35	55	1	0	3.11337e-16	1	4.74271e-16	35	55				
CES2	8824	broad.mit.edu	37	16	66977827	66977827	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:66977827G>T	ENST00000317091.4	+	12	2755	c.1771G>T	c.(1771-1773)Ggc>Tgc	p.G591C	CES2_ENST00000417689.1_Missense_Mutation_p.G575C|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	527					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	GCCTGCGGTGGGCCGGGCTCT	0.602																																					Ovarian(70;1230 1691 37888 38351)	ENST00000317091.4																			0				breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1771-1773)Ggc>Tgc		carboxylesterase 2							30.0	30.0	30.0					16																	66977827		2200	4300	6500	SO:0001583	missense	8824				catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:66977827G>T	BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1771G>T	16.37:g.66977827G>T	ENSP00000317842:p.Gly591Cys					RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Missense_Mutation_p.G575C	p.G591C	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	12	2755	+		Ovarian(137;0.0563)	527					A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	c.1771G>T	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867837	0.51588	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.59906	0.23;0.23	4.98	3.03	0.35002	Carboxylesterase, type B (1);	0.282700	0.25272	N	0.031878	T	0.76550	0.4003	M	0.92604	3.325	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.66516	-0.5904	10	0.87932	D	0	.	4.4493	0.11612	0.1842:0.0:0.6385:0.1774	.	527;591	O00748;A8K367	EST2_HUMAN;.	C	575;591	ENSP00000394452:G575C;ENSP00000317842:G591C	ENSP00000317842:G591C	G	+	1	0	CES2	65535328	0.515000	0.26210	0.798000	0.32154	0.510000	0.34073	1.794000	0.38774	0.692000	0.31613	0.650000	0.86243	GGC		0.602	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2	NM_003869		12	35	1	0	0.435327	1	0.437721	12	35				
CR2	1380	broad.mit.edu	37	1	207653332	207653332	+	Missense_Mutation	SNP	C	C	T	rs142392703	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:207653332C>T	ENST00000367058.3	+	17	3134	c.2945C>T	c.(2944-2946)gCa>gTa	p.A982V	CR2_ENST00000458541.2_Missense_Mutation_p.A955V|CR2_ENST00000367057.3_Missense_Mutation_p.A1041V|CR2_ENST00000367059.3_Missense_Mutation_p.A920V	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	982					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTATTGCTGCAGGTTTGATA	0.413													C|||	2	0.000399361	0.0	0.0	5008	,	,		20545	0.002		0.0	False		,,,				2504	0.0					ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(3121-3123)gCa>gTa		complement component (3d/Epstein Barr virus) receptor 2							249.0	226.0	233.0					1																	207653332		2203	4299	6502	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207653332C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2945C>T	1.37:g.207653332C>T	ENSP00000356025:p.Ala982Val					CR2_ENST00000367059.3_Missense_Mutation_p.A920V|CR2_ENST00000458541.2_Missense_Mutation_p.A955V|CR2_ENST00000367058.3_Missense_Mutation_p.A982V	p.A1041V	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			18	3311	+			982					C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.3122C>T	CCDS1478.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	0.131	-1.113303	0.01799	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.34275	1.42;1.37;1.43;1.4	4.63	-2.0	0.07433	.	.	.	.	.	T	0.16896	0.0406	N	0.17082	0.46	0.09310	N	1	B;B;B	0.29612	0.132;0.068;0.251	B;B;B	0.24269	0.01;0.03;0.052	T	0.19160	-1.0314	9	0.29301	T	0.29	.	4.9957	0.14237	0.0:0.3852:0.1532:0.4616	.	920;982;1041	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	V	982;1041;920;955	ENSP00000356025:A982V;ENSP00000356024:A1041V;ENSP00000356026:A920V;ENSP00000404222:A955V	ENSP00000356024:A1041V	A	+	2	0	CR2	205719955	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.022000	0.03611	-0.213000	0.10094	-0.339000	0.08088	GCA		0.413	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		3	24	0	0	0	1	0	3	24				
LARP6	55323	broad.mit.edu	37	15	71124778	71124778	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:71124778C>A	ENST00000299213.8	-	3	1159	c.1089G>T	c.(1087-1089)ccG>ccT	p.P363P	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	363					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGGCCAGACGGGCTGAGCT	0.612																																						ENST00000299213.8																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1087-1089)ccG>ccT		La ribonucleoprotein domain family, member 6							36.0	39.0	38.0					15																	71124778		2199	4297	6496	SO:0001819	synonymous_variant	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71124778C>A	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.1089G>T	15.37:g.71124778C>A							p.P363P	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN			3	1159	-			363					Q5XKE4|Q8N3N2|Q9NUR0	Silent	SNP	ENST00000299213.8	37	c.1089G>T	CCDS32281.1																																																																																				0.612	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		12	52	1	0	4.3838e-07	1	5.24449e-07	12	52				
FEZF1	389549	broad.mit.edu	37	7	121942248	121942248	+	Silent	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:121942248T>G	ENST00000442488.2	-	4	1298	c.1231A>C	c.(1231-1233)Agg>Cgg	p.R411R	FEZF1_ENST00000427185.2_Silent_p.R361R|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Silent_p.R407R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	411					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TCAAAGTTCCTGCAGAAACCC	0.607																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(1231-1233)Agg>Cgg		FEZ family zinc finger 1							160.0	136.0	144.0					7																	121942248		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942248T>G	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1231A>C	7.37:g.121942248T>G						FEZF1_ENST00000331178.4_Silent_p.R407R|FEZF1_ENST00000427185.2_Silent_p.R361R	p.R411R	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			4	1298	-			411					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.1231A>C	CCDS34741.2																																																																																				0.607	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		29	94	0	0	0	1	0	29	94				
WDR17	116966	broad.mit.edu	37	4	177056261	177056261	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:177056261A>T	ENST00000280190.4	+	9	1329	c.1173A>T	c.(1171-1173)ggA>ggT	p.G391G	WDR17_ENST00000508596.1_Silent_p.G367G|WDR17_ENST00000507824.2_Silent_p.G374G|WDR17_ENST00000393643.2_Silent_p.G367G			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	391										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTCCTAGGGACATGTGGAAA	0.328																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1099-1101)ggA>ggT		WD repeat domain 17							100.0	102.0	102.0					4																	177056261		2203	4299	6502	SO:0001819	synonymous_variant	116966							g.chr4:177056261A>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1173A>T	4.37:g.177056261A>T						WDR17_ENST00000507824.2_Silent_p.G374G|WDR17_ENST00000280190.4_Silent_p.G391G|WDR17_ENST00000508596.1_Silent_p.G367G	p.G367G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	8	1353	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	391					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.1101A>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903839	0.33628	.	.	ENSG00000150627	ENST00000505894	.	.	.	5.5	-0.565	0.11771	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24548	-1.0157	4	.	.	.	-22.1265	1.2264	0.01934	0.4233:0.1039:0.1426:0.3302	.	.	.	.	V	140	.	.	D	+	2	0	WDR17	177293255	0.999000	0.42202	0.999000	0.59377	0.989000	0.77384	0.736000	0.26130	0.024000	0.15214	0.528000	0.53228	GAC		0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			13	51	0	0	0	1	0	13	51				
GNB2	2783	broad.mit.edu	37	7	100276124	100276124	+	Missense_Mutation	SNP	A	A	T	rs147810006		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:100276124A>T	ENST00000303210.4	+	9	1285	c.803A>T	c.(802-804)aAc>aTc	p.N268I	GNB2_ENST00000419828.1_Missense_Mutation_p.N168I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I|GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	268					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCCCATGACAACATCATCTGT	0.607																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(802-804)aAc>aTc		guanine nucleotide binding protein (G protein), beta polypeptide 2		A	ILE/ASN	0,4406		0,0,2203	60.0	60.0	60.0		803	4.4	1.0	7	dbSNP_134	60	2,8598		0,2,4298	no	missense	GNB2	NM_005273.3	149	0,2,6501	TT,TA,AA		0.0233,0.0,0.0154	possibly-damaging	268/341	100276124	2,13004	2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100276124A>T	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.803A>T	7.37:g.100276124A>T	ENSP00000305260:p.Asn268Ile					GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I|GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I	p.N268I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			9	1285	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	268					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.803A>T	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.125242	0.77436	0.0	2.33E-4	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;D;D;D;D;T;T	0.82619	5.0;-1.63;-1.63;-1.63;-1.63;5.0;5.0	5.67	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.75264	2.295	0.58432	D	0.999996	B	0.32409	0.37	P	0.44732	0.459	D	0.86865	0.2032	10	0.72032	D	0.01	-11.881	10.667	0.45736	0.8397:0.1603:0.0:0.0	.	268	P62879	GBB2_HUMAN	I	268;224;224;168;168;268;268	ENSP00000305260:N268I;ENSP00000401873:N224I;ENSP00000389391:N224I;ENSP00000390543:N168I;ENSP00000400286:N168I;ENSP00000377503:N268I;ENSP00000377501:N268I	ENSP00000305260:N268I	N	+	2	0	GNB2	100114060	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.846000	0.39289	2.174000	0.68829	0.454000	0.30748	AAC		0.607	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		18	50	0	0	0	1	0	18	50				
APC	324	broad.mit.edu	37	5	112178924	112178924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:112178924G>T	ENST00000457016.1	+	16	8013	c.7633G>T	c.(7633-7635)Gga>Tga	p.G2545*	APC_ENST00000257430.4_Nonsense_Mutation_p.G2545*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.G2545*			P25054	APC_HUMAN	adenomatous polyposis coli	2545	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAATAGGTCAGGAACCTGGAA	0.438		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(7633-7635)Gga>Tga		adenomatous polyposis coli							87.0	84.0	85.0					5																	112178924		2202	4300	6502	SO:0001587	stop_gained	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112178924G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7633G>T	5.37:g.112178924G>T	ENSP00000413133:p.Gly2545*	TSP Lung(16;0.13)				APC_ENST00000257430.4_Nonsense_Mutation_p.G2545*|APC_ENST00000508376.2_Nonsense_Mutation_p.G2545*|CTC-554D6.1_ENST00000520401.1_Intron	p.G2545*			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	8013	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2545			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.7633G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	50	16.173483	0.99856	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6026	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	2545	.	.	G	+	1	0	APC	112206823	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	8.993000	0.93524	2.884000	0.98904	0.655000	0.94253	GGA		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		19	70	1	0	6.33239e-15	1	9.38055e-15	19	70				
HHIP	64399	broad.mit.edu	37	4	145581005	145581005	+	Intron	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:145581005T>A	ENST00000296575.3	+	4	1486				HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.N282K|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein						carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCtttttaaattttatttatt	0.318																																						ENST00000434550.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(844-846)aaT>aaA		hedgehog interacting protein							25.0	30.0	28.0					4																	145581005		2189	4285	6474	SO:0001627	intron_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145581005T>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.831+15T>A	4.37:g.145581005T>A						HHIP_ENST00000296575.3_Intron|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	p.N282K			Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1350	+	all_hematologic(180;0.151)		0					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.846T>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011036	0.35511	.	.	ENSG00000164161	ENST00000434550	T	0.42900	0.96	5.88	0.436	0.16549	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.09310	N	0.999997	B	0.13594	0.008	B	0.13407	0.009	T	0.23084	-1.0198	7	.	.	.	.	5.7125	0.17943	0.3852:0.0713:0.0:0.5435	.	282	Q96QV1-2	.	K	282	ENSP00000408587:N282K	.	N	+	3	2	HHIP	145800455	0.900000	0.30661	0.232000	0.24009	0.989000	0.77384	1.800000	0.38833	0.077000	0.16863	0.454000	0.30748	AAT		0.318	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			16	43	0	0	0	1	0	16	43				
TTN	7273	broad.mit.edu	37	2	179615215	179615215	+	Intron	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179615215G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.P3971L|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			TATAGGTTGAGGATATCCTTG	0.358																																						ENST00000360870.5																			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.(11911-11913)cCt>cTt		titin							66.0	67.0	67.0					2																	179615215		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615215G>A	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.10360+2635C>T	2.37:g.179615215G>A						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	p.P3971L	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12134	-			9787					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.11912C>T		.	.	.	.	.	.	.	.	.	.	G	25.1	4.599750	0.87055	.	.	ENSG00000155657	ENST00000360870	T	0.74526	-0.85	5.35	5.35	0.76521	.	.	.	.	.	D	0.90421	0.7001	H	0.95260	3.645	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.92513	0.6018	9	0.59425	D	0.04	.	19.4204	0.94719	0.0:0.0:1.0:0.0	.	3971	Q8WZ42-6	.	L	3971	ENSP00000354117:P3971L	ENSP00000354117:P3971L	P	-	2	0	TTN	179323460	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.378000	0.97191	2.661000	0.90470	0.655000	0.94253	CCT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	23	0	0	0	1	0	9	23				
L1CAM	3897	broad.mit.edu	37	X	153134345	153134345	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153134345C>A	ENST00000370060.1	-	12	1519	c.1330G>T	c.(1330-1332)Gcc>Tcc	p.A444S	L1CAM_ENST00000543994.1_Missense_Mutation_p.A446S|L1CAM_ENST00000361981.3_Missense_Mutation_p.A439S|L1CAM_ENST00000538883.1_Missense_Mutation_p.A446S|L1CAM_ENST00000370057.3_Missense_Mutation_p.A444S|L1CAM_ENST00000361699.4_Missense_Mutation_p.A444S|L1CAM_ENST00000370055.1_Missense_Mutation_p.A439S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	444	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGGTAGGCAGTGCTGCCC	0.602																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	GRCh37	CD972291	L1CAM	D		c.(1330-1332)Gcc>Tcc		L1 cell adhesion molecule							181.0	135.0	151.0					X																	153134345		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134345C>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1330G>T	X.37:g.153134345C>A	ENSP00000359077:p.Ala444Ser					L1CAM_ENST00000543994.1_Missense_Mutation_p.A446S|L1CAM_ENST00000538883.1_Missense_Mutation_p.A446S|L1CAM_ENST00000361699.4_Missense_Mutation_p.A444S|L1CAM_ENST00000370055.1_Missense_Mutation_p.A439S|L1CAM_ENST00000361981.3_Missense_Mutation_p.A439S|L1CAM_ENST00000370057.3_Missense_Mutation_p.A444S	p.A444S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1519	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		444			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1330G>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145800	0.77888	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.092146	0.46145	D	0.000315	D	0.90587	0.7049	M	0.88570	2.965	0.49213	D	0.999765	D;D;D	0.61080	0.986;0.971;0.989	P;P;P	0.62491	0.843;0.718;0.903	D	0.92170	0.5743	10	0.72032	D	0.01	.	17.4799	0.87670	0.0:1.0:0.0:0.0	.	439;444;444	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	S	444;446;444;446;439;439;444	ENSP00000359077:A444S;ENSP00000438430:A446S;ENSP00000359074:A444S;ENSP00000439645:A446S;ENSP00000354712:A439S;ENSP00000359072:A439S;ENSP00000355380:A444S	ENSP00000355380:A444S	A	-	1	0	L1CAM	152787539	0.990000	0.36364	0.956000	0.39512	0.175000	0.22909	3.408000	0.52651	2.398000	0.81561	0.529000	0.55759	GCC		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		39	152	1	0	5.04308e-16	1	7.66951e-16	39	152				
DNHD1	144132	broad.mit.edu	37	11	6519792	6519792	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:6519792C>A	ENST00000527990.2	+	1	347	c.347C>A	c.(346-348)cCc>cAc	p.P116H	DNHD1_ENST00000254579.6_Missense_Mutation_p.P116H|DNHD1_ENST00000354685.3_Missense_Mutation_p.P116H|DNHD1_ENST00000477562.1_3'UTR			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	116					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCTGGGCACCCTGGGTCCAA	0.547																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(346-348)cCc>cAc		dynein heavy chain domain 1							137.0	125.0	129.0					11																	6519792		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6519792C>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.347C>A	11.37:g.6519792C>A	ENSP00000436180:p.Pro116His					DNHD1_ENST00000527990.2_Missense_Mutation_p.P116H|DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000354685.3_Missense_Mutation_p.P116H	p.P116H	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	911	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	116					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.347C>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589450	0.66105	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.28255	1.62;2.59;1.62	5.33	5.33	0.75918	.	0.209202	0.34932	N	0.003571	T	0.43188	0.1236	L	0.32530	0.975	0.32335	N	0.56055	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.53394	-0.8445	10	0.87932	D	0	.	11.6318	0.51181	0.1774:0.8226:0.0:0.0	.	116;116	Q96M86;Q96M86-4	DNHD1_HUMAN;.	H	116	ENSP00000254579:P116H;ENSP00000346716:P116H;ENSP00000436180:P116H	ENSP00000254579:P116H	P	+	2	0	DNHD1	6476368	0.962000	0.33011	0.999000	0.59377	0.889000	0.51656	1.507000	0.35758	2.487000	0.83934	0.563000	0.77884	CCC		0.547	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		34	127	1	0	5.8336e-16	1	8.84231e-16	34	127				
CCDC102B	79839	broad.mit.edu	37	18	66542022	66542022	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:66542022G>T	ENST00000360242.5	+	5	1170	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	CCDC102B_ENST00000584156.1_Splice_Site_p.E351D|CCDC102B_ENST00000358653.5_Splice_Site_p.E351D|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Splice_Site_p.E351D	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	351										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TAAGAGCAGAGGTAAGACACT	0.358																																						ENST00000360242.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.e5+1		coiled-coil domain containing 102B							82.0	76.0	78.0					18																	66542022		2203	4300	6503	SO:0001630	splice_region_variant	79839							g.chr18:66542022G>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1053+1G>T	18.37:g.66542022G>T						CCDC102B_ENST00000319445.6_Splice_Site_p.E351_splice|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Splice_Site_p.E351_splice|CCDC102B_ENST00000584156.1_Splice_Site_p.E351_splice	p.E351_splice	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN			5	1170	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	351					Q7Z467|Q8NDK7|Q9H5C1	Splice_Site	SNP	ENST00000360242.5	37	c.1053_splice	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	g	4.374	0.068948	0.08436	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.29655	2.06;1.56;2.06	4.44	2.63	0.31362	.	0.000000	0.52532	D	0.000065	T	0.39226	0.1070	M	0.73962	2.25	0.26796	N	0.969308	D;P	0.56035	0.974;0.93	P;P	0.51324	0.666;0.666	T	0.22556	-1.0213	10	0.40728	T	0.16	.	6.9729	0.24658	0.2163:0.0:0.7837:0.0	.	351;351	Q68D86-3;Q68D86	.;C102B_HUMAN	D	351	ENSP00000316237:E351D;ENSP00000351479:E351D;ENSP00000353377:E351D	ENSP00000316237:E351D	E	+	3	2	CCDC102B	64693002	1.000000	0.71417	0.927000	0.36925	0.077000	0.17291	2.529000	0.45632	0.425000	0.26087	0.591000	0.81541	GAG		0.358	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	Missense_Mutation	14	51	1	0	0.006122	1	0.00635854	14	51				
COL24A1	255631	broad.mit.edu	37	1	86340371	86340371	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:86340371A>T	ENST00000370571.2	-	35	3465	c.3099T>A	c.(3097-3099)acT>acA	p.T1033T	COL24A1_ENST00000436319.1_Silent_p.T1033T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1033	Collagen-like 9.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACTGCCAGCAGTTCCAACAT	0.463																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3097-3099)acT>acA		collagen, type XXIV, alpha 1							60.0	57.0	58.0					1																	86340371		1880	4106	5986	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86340371A>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3099T>A	1.37:g.86340371A>T						COL24A1_ENST00000436319.1_Silent_p.T1033T	p.T1033T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	35	3465	-			1033			Collagen-like 9.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.3099T>A	CCDS41353.1																																																																																				0.463	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		10	16	0	0	0	1	0	10	16				
CLEC6A	93978	broad.mit.edu	37	12	8608728	8608728	+	Silent	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:8608728T>A	ENST00000382073.3	+	1	207	c.21T>A	c.(19-21)ccT>ccA	p.P7P		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	7					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AGCAGCAACCTCAAAGTACAG	0.453																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(19-21)ccT>ccA		C-type lectin domain family 6, member A							134.0	124.0	127.0					12																	8608728		2203	4300	6503	SO:0001819	synonymous_variant	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8608728T>A	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.21T>A	12.37:g.8608728T>A							p.P7P	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			1	207	+	Lung SC(5;0.184)		7					A2RUK3	Silent	SNP	ENST00000382073.3	37	c.21T>A	CCDS31739.1																																																																																				0.453	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		9	64	0	0	0	1	0	9	64				
GPR158	57512	broad.mit.edu	37	10	25701183	25701183	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:25701183G>A	ENST00000376351.3	+	4	1475	c.1116G>A	c.(1114-1116)agG>agA	p.R372R		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	372					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTTCAGGAAGGGGTCCGGATC	0.458																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(1114-1116)agG>agA		G protein-coupled receptor 158							138.0	136.0	136.0					10																	25701183		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25701183G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1116G>A	10.37:g.25701183G>A							p.R372R	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			4	1475	+			372					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.1116G>A	CCDS31166.1																																																																																				0.458	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		17	94	0	0	0	1	0	17	94				
TRAM1L1	133022	broad.mit.edu	37	4	118005504	118005504	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:118005504C>A	ENST00000310754.4	-	1	1232	c.1046G>T	c.(1045-1047)gGa>gTa	p.G349V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	349					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CACTCCCACTCCGTTTTCTGT	0.393																																						ENST00000310754.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1045-1047)gGa>gTa		translocation associated membrane protein 1-like 1							158.0	163.0	161.0					4																	118005504		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005504C>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1046G>T	4.37:g.118005504C>A	ENSP00000309402:p.Gly349Val						p.G349V	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	1232	-			349					Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.1046G>T	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189519	0.57909	.	.	ENSG00000174599	ENST00000310754	T	0.50548	0.74	3.74	3.74	0.42951	.	1.517220	0.03495	N	0.217232	T	0.59689	0.2212	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.52616	-0.8552	10	0.56958	D	0.05	-16.9383	13.8494	0.63487	0.0:1.0:0.0:0.0	.	349	Q8N609	TR1L1_HUMAN	V	349	ENSP00000309402:G349V	ENSP00000309402:G349V	G	-	2	0	TRAM1L1	118224952	0.687000	0.27671	0.820000	0.32676	0.896000	0.52359	1.979000	0.40608	2.385000	0.81259	0.650000	0.86243	GGA		0.393	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		23	128	1	0	6.44725e-10	1	8.38234e-10	23	128				
HECTD2	143279	broad.mit.edu	37	10	93221022	93221022	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:93221022A>T	ENST00000298068.5	+	4	513	c.419A>T	c.(418-420)gAa>gTa	p.E140V	HECTD2_ENST00000446394.1_Missense_Mutation_p.E140V|HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000371681.4_Missense_Mutation_p.E140V	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	140					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GAAGATGTAGAAAAAGTTAAG	0.279																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(418-420)gAa>gTa		HECT domain containing E3 ubiquitin protein ligase 2							103.0	117.0	112.0					10																	93221022		2202	4291	6493	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93221022A>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.419A>T	10.37:g.93221022A>T	ENSP00000298068:p.Glu140Val					HECTD2_ENST00000298068.5_Missense_Mutation_p.E140V|HECTD2_ENST00000371681.4_Missense_Mutation_p.E140V	p.E140V			Q5U5R9	HECD2_HUMAN			4	519	+			140					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.419A>T	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200089	0.79015	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.52754	1.08;0.65;1.07	5.1	5.1	0.69264	.	0.059464	0.64402	D	0.000004	T	0.65842	0.2730	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.83275	0.878;0.878;0.996	T	0.69371	-0.5163	10	0.72032	D	0.01	.	14.5431	0.68011	1.0:0.0:0.0:0.0	.	140;140;140	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	V	140	ENSP00000401023:E140V;ENSP00000360746:E140V;ENSP00000298068:E140V	ENSP00000298068:E140V	E	+	2	0	HECTD2	93211002	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.813000	0.86123	1.921000	0.55644	0.383000	0.25322	GAA		0.279	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			24	92	0	0	0	1	0	24	92				
C12orf56	115749	broad.mit.edu	37	12	64784226	64784226	+	Silent	SNP	G	G	T	rs544605659		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:64784226G>T	ENST00000543942.2	-	1	746	c.120C>A	c.(118-120)atC>atA	p.I40I	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Silent_p.I40I	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	40										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGGACACCACGATGCATGGCT	0.647																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(118-120)atC>atA		chromosome 12 open reading frame 56							52.0	56.0	55.0					12																	64784226		1985	4161	6146	SO:0001819	synonymous_variant	115749							g.chr12:64784226G>T		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.120C>A	12.37:g.64784226G>T						C12orf56_ENST00000333722.5_Silent_p.I40I|RPS11P6_ENST00000535684.1_RNA	p.I40I	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	1	746	-			40						Silent	SNP	ENST00000543942.2	37	c.120C>A																																																																																					0.647	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		13	78	1	0	1.36491e-13	1	1.96771e-13	13	78				
TBCCD1	55171	broad.mit.edu	37	3	186274336	186274336	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:186274336C>A	ENST00000424280.1	-	4	1200	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	TBCCD1_ENST00000446782.1_Missense_Mutation_p.D145Y|TBCCD1_ENST00000479590.1_5'Flank|TBCCD1_ENST00000338733.5_Missense_Mutation_p.D241Y	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	241					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AAGCCACTATCTGCATGCAGT	0.448																																						ENST00000424280.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17						c.(721-723)Gat>Tat		TBCC domain containing 1							74.0	71.0	72.0					3																	186274336		2203	4300	6503	SO:0001583	missense	55171				cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding	g.chr3:186274336C>A	BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.721G>T	3.37:g.186274336C>A	ENSP00000411253:p.Asp241Tyr					TBCCD1_ENST00000446782.1_Missense_Mutation_p.D145Y|TBCCD1_ENST00000338733.5_Missense_Mutation_p.D241Y	p.D241Y	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)	4	1200	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		241					B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	c.721G>T	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268959	0.40095	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	T;T;T	0.72615	-0.67;-0.67;-0.67	5.65	4.76	0.60689	.	0.295011	0.38778	N	0.001579	T	0.48677	0.1513	N	0.08118	0	0.27198	N	0.960259	B;B	0.28605	0.217;0.009	B;B	0.28916	0.096;0.014	T	0.47598	-0.9105	10	0.59425	D	0.04	-3.2022	7.6482	0.28334	0.0:0.7493:0.1666:0.0841	.	145;241	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	Y	241;241;145	ENSP00000411253:D241Y;ENSP00000341652:D241Y;ENSP00000397091:D145Y	ENSP00000341652:D241Y	D	-	1	0	TBCCD1	187757030	0.862000	0.29867	0.950000	0.38849	0.997000	0.91878	1.441000	0.35035	1.585000	0.49928	0.655000	0.94253	GAT		0.448	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138		17	53	1	0	1.37285e-15	1	2.06041e-15	17	53				
OR2B6	26212	broad.mit.edu	37	6	27925229	27925229	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:27925229C>A	ENST00000244623.1	+	1	211	c.211C>A	c.(211-213)Ctt>Att	p.L71I		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCCTGGATCTTTGTTACAC	0.408																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(211-213)Ctt>Att		olfactory receptor, family 2, subfamily B, member 6							124.0	116.0	118.0					6																	27925229		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925229C>A	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.211C>A	6.37:g.27925229C>A	ENSP00000244623:p.Leu71Ile						p.L71I	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	211	+			71					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.211C>A	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	6.250	0.414225	0.11870	.	.	ENSG00000124657	ENST00000244623	T	0.02258	4.37	3.78	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30940	U	0.008561	T	0.01353	0.0044	N	0.17594	0.5	0.09310	N	1	D	0.57571	0.98	P	0.58970	0.849	T	0.52117	-0.8618	10	0.48119	T	0.1	.	7.8164	0.29263	0.0:0.877:0.0:0.123	.	71	P58173	OR2B6_HUMAN	I	71	ENSP00000244623:L71I	ENSP00000244623:L71I	L	+	1	0	OR2B6	28033208	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-1.097000	0.03349	0.867000	0.35654	-0.251000	0.11542	CTT		0.408	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			19	79	1	0	6.33239e-15	1	9.38055e-15	19	79				
TREML2	79865	broad.mit.edu	37	6	41162351	41162351	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:41162351G>T	ENST00000483722.1	-	3	782	c.597C>A	c.(595-597)agC>agA	p.S199R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	199					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S258S(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGTCCCTGGCTGGTGGTGC	0.602																																						ENST00000483722.1																			1	Substitution - coding silent(1)	p.S258S(1)	lung(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(595-597)agC>agA		triggering receptor expressed on myeloid cells-like 2							113.0	88.0	97.0					6																	41162351		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162351G>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.597C>A	6.37:g.41162351G>T	ENSP00000418767:p.Ser199Arg						p.S199R	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			3	782	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		199					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.597C>A	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	G	8.608	0.888444	0.17540	.	.	ENSG00000112195	ENST00000483722	T	0.06068	3.35	4.35	1.53	0.23141	.	0.791184	0.11073	N	0.602649	T	0.01124	0.0037	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48068	-0.9067	10	0.42905	T	0.14	-5.3948	3.5538	0.07857	0.2178:0.0:0.5851:0.1972	.	199	Q5T2D2	TRML2_HUMAN	R	199	ENSP00000418767:S199R	ENSP00000418767:S199R	S	-	3	2	TREML2	41270329	0.104000	0.21937	0.001000	0.08648	0.011000	0.07611	1.306000	0.33505	0.190000	0.20209	-0.287000	0.09952	AGC		0.602	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		10	27	1	0	0.00621372	1	0.00644647	10	27				
IVD	3712	broad.mit.edu	37	15	40710403	40710403	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:40710403G>T	ENST00000249760.2	+	12	1556	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	IVD_ENST00000479013.2_Missense_Mutation_p.G378W|IVD_ENST00000487418.2_Missense_Mutation_p.G408W	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	405	Substrate binding.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GATAGGGGCTGGGACCAGCGA	0.567																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2																			0				kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.(1213-1215)Ggg>Tgg		isovaleryl-CoA dehydrogenase							102.0	97.0	98.0					15																	40710403		2203	4300	6503	SO:0001583	missense	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40710403G>T	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.1213G>T	15.37:g.40710403G>T	ENSP00000249760:p.Gly405Trp					IVD_ENST00000479013.2_Missense_Mutation_p.G378W|IVD_ENST00000487418.2_Missense_Mutation_p.G408W	p.G405W	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	12	1556	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	405			Substrate binding.		B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37	c.1213G>T		.	.	.	.	.	.	.	.	.	.	G	25.0	4.596321	0.86953	.	.	ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418	D;D;D	0.99961	-9.25;-9.25;-9.25	5.15	4.21	0.49690	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.99903	4.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97237	0.9888	10	0.87932	D	0	.	14.7458	0.69490	0.0:0.0:0.8541:0.1459	.	405;378	P26440;B3KVI7	IVD_HUMAN;.	W	405;378;408	ENSP00000249760:G405W;ENSP00000417990:G378W;ENSP00000418397:G408W	ENSP00000249760:G405W	G	+	1	0	IVD	38497695	1.000000	0.71417	0.984000	0.44739	0.982000	0.71751	9.680000	0.98651	1.108000	0.41662	0.491000	0.48974	GGG		0.567	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				20	72	1	0	1.55795e-14	1	2.29671e-14	20	72				
ZNF12	7559	broad.mit.edu	37	7	6731953	6731953	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:6731953T>A	ENST00000405858.1	-	5	1161	c.620A>T	c.(619-621)tAt>tTt	p.Y207F	ZNF12_ENST00000404360.1_Missense_Mutation_p.Y133F|ZNF12_ENST00000342651.5_Missense_Mutation_p.Y169F|AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	207					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AATTTTCTGATAAAGACTTTC	0.343																																						ENST00000405858.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16						c.(619-621)tAt>tTt		zinc finger protein 12							40.0	38.0	38.0					7																	6731953		1819	4087	5906	SO:0001583	missense	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731953T>A	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.620A>T	7.37:g.6731953T>A	ENSP00000385939:p.Tyr207Phe					AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.Y169F|ZNF12_ENST00000404360.1_Missense_Mutation_p.Y133F	p.Y207F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1161	-		Ovarian(82;0.0776)	207					A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	c.620A>T	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090074	0.36855	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.05258	3.47;3.51;3.51	4.03	1.57	0.23409	.	0.196582	0.25529	N	0.030059	T	0.04770	0.0129	N	0.25485	0.75	0.28335	N	0.921628	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.24693	-1.0153	10	0.66056	D	0.02	.	8.0808	0.30744	0.3069:0.0:0.0:0.6931	.	207;169	P17014;P17014-5	ZNF12_HUMAN;.	F	133;207;169;265;171	ENSP00000384405:Y133F;ENSP00000385939:Y207F;ENSP00000344745:Y169F	ENSP00000331039:Y171F	Y	-	2	0	ZNF12	6698478	1.000000	0.71417	0.794000	0.32065	0.938000	0.57974	2.805000	0.47939	0.326000	0.23384	0.460000	0.39030	TAT		0.343	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		6	21	0	0	0	1	0	6	21				
UBIAD1	29914	broad.mit.edu	37	1	11333601	11333601	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:11333601C>G	ENST00000376810.5	+	1	339	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	UBIAD1_ENST00000376804.2_Missense_Mutation_p.Q5E	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	5					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GGCGGCCTCTCAGGTCCTGGG	0.612																																						ENST00000376810.5																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12						c.(13-15)Cag>Gag		UbiA prenyltransferase domain containing 1							38.0	44.0	42.0					1																	11333601		2203	4299	6502	SO:0001583	missense	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11333601C>G		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.13C>G	1.37:g.11333601C>G	ENSP00000366006:p.Gln5Glu					UBIAD1_ENST00000376804.2_Missense_Mutation_p.Q5E	p.Q5E	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	1	339	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	5					B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	c.13C>G	CCDS129.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631055	0.46944	.	.	ENSG00000120942	ENST00000376810;ENST00000376804	D;D	0.94931	-3.56;-3.08	4.8	2.83	0.33086	.	1.245670	0.05718	N	0.597239	D	0.89308	0.6678	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79042	-0.1965	10	0.44086	T	0.13	-0.1527	6.507	0.22200	0.0:0.5422:0.3597:0.0981	.	5	Q9Y5Z9	UBIA1_HUMAN	E	5	ENSP00000366006:Q5E;ENSP00000366000:Q5E	ENSP00000366000:Q5E	Q	+	1	0	UBIAD1	11256188	0.000000	0.05858	0.002000	0.10522	0.784000	0.44337	0.527000	0.22987	1.084000	0.41184	0.453000	0.30009	CAG		0.612	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		15	48	0	0	0	1	0	15	48				
SPAG17	200162	broad.mit.edu	37	1	118558728	118558728	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:118558728C>A	ENST00000336338.5	-	29	4212	c.4147G>T	c.(4147-4149)Gta>Tta	p.V1383L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1383						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACAGGAGTTACAGTTTGAACT	0.453																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4147-4149)Gta>Tta		sperm associated antigen 17							158.0	157.0	157.0					1																	118558728		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118558728C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4147G>T	1.37:g.118558728C>A	ENSP00000337804:p.Val1383Leu						p.V1383L	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	29	4212	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1383					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4147G>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	8.292	0.817937	0.16607	.	.	ENSG00000155761	ENST00000336338	T	0.17370	2.28	4.62	-1.41	0.08941	.	1.795310	0.02594	N	0.100268	T	0.04182	0.0116	L	0.47716	1.5	0.09310	N	1	B	0.24426	0.103	B	0.19148	0.024	T	0.33292	-0.9874	10	0.27785	T	0.31	.	1.9874	0.03439	0.1399:0.3935:0.2761:0.1905	.	1383	Q6Q759	SPG17_HUMAN	L	1383	ENSP00000337804:V1383L	ENSP00000337804:V1383L	V	-	1	0	SPAG17	118360251	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.065000	0.14466	0.047000	0.15862	0.460000	0.39030	GTA		0.453	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		16	34	1	0	2.48551e-13	1	3.54407e-13	16	34				
MAD2L1	4085	broad.mit.edu	37	4	120987824	120987824	+	Missense_Mutation	SNP	C	C	A	rs140487496	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:120987824C>A	ENST00000296509.6	-	1	405	c.66G>T	c.(64-66)gaG>gaT	p.E22D	RP11-679C8.2_ENST00000511064.1_RNA|RP11-679C8.2_ENST00000508362.1_RNA|RP11-679C8.2_ENST00000504106.1_RNA|RP11-679C8.2_ENST00000503073.1_RNA	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	22	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TACAGAAGAACTCGGCCACGA	0.602																																						ENST00000296509.5																			0				breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						c.(64-66)gaG>gaT		MAD2 mitotic arrest deficient-like 1 (yeast)							42.0	43.0	43.0					4																	120987824		2203	4300	6503	SO:0001583	missense	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120987824C>A	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.66G>T	4.37:g.120987824C>A	ENSP00000296509:p.Glu22Asp						p.E22D	NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN			1	405	-			22			HORMA.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	ENST00000296509.6	37	c.66G>T	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605419	0.66445	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.23	5.23	0.72850	DNA-binding HORMA (4);	0.050020	0.85682	D	0.000000	T	0.60856	0.2301	L	0.47016	1.485	0.80722	D	1	P;B	0.37038	0.579;0.012	B;B	0.39531	0.302;0.03	T	0.59963	-0.7355	9	0.36615	T	0.2	-12.6227	19.1592	0.93524	0.0:1.0:0.0:0.0	.	22;22	Q8IZX3;Q13257	.;MD2L1_HUMAN	D	22	.	ENSP00000296509:E22D	E	-	3	2	MAD2L1	121207272	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.028000	0.41088	2.578000	0.87016	0.591000	0.81541	GAG		0.602	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2			15	35	1	0	1.15088e-07	1	1.40254e-07	15	35				
ATP1B4	23439	broad.mit.edu	37	X	119504590	119504590	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:119504590T>C	ENST00000218008.3	+	3	406	c.349T>C	c.(349-351)Ttc>Ctc	p.F117L	ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.F113L	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	117					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						ACTCATTTACTTCTTCTTCTA	0.483																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(349-351)Ttc>Ctc		ATPase, Na+/K+ transporting, beta 4 polypeptide							360.0	275.0	304.0					X																	119504590		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119504590T>C	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.349T>C	X.37:g.119504590T>C	ENSP00000218008:p.Phe117Leu					ATP1B4_ENST00000361319.3_Missense_Mutation_p.F113L|ATP1B4_ENST00000539306.1_Intron	p.F117L	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			3	406	+			117					Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.349T>C	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.595412	0.00857	.	.	ENSG00000101892	ENST00000218008;ENST00000361319	T;T	0.21734	1.99;1.99	5.54	4.17	0.49024	.	0.150049	0.64402	D	0.000012	T	0.06826	0.0174	N	0.01656	-0.775	0.80722	D	1	B;B;B	0.16396	0.004;0.017;0.014	B;B;B	0.27262	0.002;0.078;0.046	T	0.23048	-1.0199	10	0.02654	T	1	-35.973	9.8772	0.41211	0.0:0.0991:0.0:0.9009	.	82;117;113	B7ZKV9;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	L	117;113	ENSP00000218008:F117L;ENSP00000355346:F113L	ENSP00000218008:F117L	F	+	1	0	ATP1B4	119388618	0.997000	0.39634	1.000000	0.80357	0.088000	0.18126	0.721000	0.25911	1.836000	0.53414	0.345000	0.21793	TTC		0.483	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		63	140	0	0	0	1	0	63	140				
NLRP10	338322	broad.mit.edu	37	11	7981599	7981599	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:7981599G>T	ENST00000328600.2	-	2	1721	c.1560C>A	c.(1558-1560)atC>atA	p.I520I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	520					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTTTTTCGAGATGTCCAGTA	0.463																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1558-1560)atC>atA		NLR family, pyrin domain containing 10							88.0	82.0	84.0					11																	7981599		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7981599G>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1560C>A	11.37:g.7981599G>T							p.I520I	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1721	-			520					Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.1560C>A	CCDS7784.1																																																																																				0.463	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		14	41	1	0	2.62699e-14	1	3.84786e-14	14	41				
ZNF408	79797	broad.mit.edu	37	11	46726653	46726653	+	Missense_Mutation	SNP	G	G	T	rs531501450	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:46726653G>T	ENST00000311764.2	+	5	1633	c.1403G>T	c.(1402-1404)tGc>tTc	p.C468F		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGCCCCTTGCCCATGCCCT	0.662													G|||	3	0.000599042	0.0	0.0	5008	,	,		14833	0.0		0.0	False		,,,				2504	0.0031				Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1402-1404)tGc>tTc		zinc finger protein 408							38.0	43.0	41.0					11																	46726653		2201	4297	6498	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726653G>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1403G>T	11.37:g.46726653G>T	ENSP00000309606:p.Cys468Phe						p.C468F	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1633	+			468						Missense_Mutation	SNP	ENST00000311764.2	37	c.1403G>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334073	0.41297	.	.	ENSG00000175213	ENST00000311764	T	0.09445	2.98	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000153	T	0.19046	0.0457	N	0.19112	0.55	0.48975	D	0.999738	D;D	0.76494	0.999;0.999	D;D	0.68192	0.956;0.956	T	0.09400	-1.0676	10	0.21014	T	0.42	-24.1363	19.1844	0.93637	0.0:0.0:1.0:0.0	.	460;468	B4DXY4;Q9H9D4	.;ZN408_HUMAN	F	468	ENSP00000309606:C468F	ENSP00000309606:C468F	C	+	2	0	ZNF408	46683229	0.756000	0.28383	0.990000	0.47175	0.264000	0.26372	1.705000	0.37867	2.838000	0.97847	0.563000	0.77884	TGC		0.662	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		35	97	1	0	2.75727e-19	1	4.38286e-19	35	97				
OR9G1	390174	broad.mit.edu	37	11	56467883	56467883	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56467883C>A	ENST00000312153.1	+	1	20	c.20C>A	c.(19-21)aCa>aAa	p.T7K		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGCAATCATACAGTGACTGAG	0.468																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(19-21)aCa>aAa		olfactory receptor, family 9, subfamily G, member 1							109.0	96.0	101.0					11																	56467883		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56467883C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.20C>A	11.37:g.56467883C>A	ENSP00000309012:p.Thr7Lys						p.T7K	NM_001005213.1	NP_001005213.1					1	20	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.20C>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899047	0.52227	.	.	ENSG00000174914	ENST00000312153	T	0.54071	0.59	4.52	4.52	0.55395	.	0.117120	0.38720	N	0.001600	T	0.72676	0.3490	M	0.88512	2.96	0.32691	N	0.514163	D	0.54964	0.969	D	0.63192	0.912	T	0.78720	-0.2094	10	0.28530	T	0.3	-9.374	14.2494	0.66009	0.0:0.8497:0.1503:0.0	.	7	Q8NH87	OR9G1_HUMAN	K	7	ENSP00000309012:T7K	ENSP00000309012:T7K	T	+	2	0	OR9G1	56224459	0.000000	0.05858	1.000000	0.80357	0.591000	0.36615	0.365000	0.20348	2.480000	0.83734	0.573000	0.79308	ACA		0.468	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		7	57	1	0	0.000157383	1	0.000171862	7	57				
WWC1	23286	broad.mit.edu	37	5	167882461	167882461	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:167882461G>T	ENST00000265293.4	+	19	3261	c.2759G>T	c.(2758-2760)cGa>cTa	p.R920L	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.R920L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	920	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CCATTTCTTCGAGGGAGCACC	0.642																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2758-2760)cGa>cTa		WW and C2 domain containing 1							107.0	108.0	108.0					5																	167882461		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167882461G>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2759G>T	5.37:g.167882461G>T	ENSP00000265293:p.Arg920Leu					WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.R920L	p.R920L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	19	3261	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	920			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.2759G>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783506	0.90282	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.64991	-0.13;-0.13;-0.13	5.46	5.46	0.80206	.	0.061115	0.64402	D	0.000006	T	0.79873	0.4521	M	0.80616	2.505	0.80722	D	1	D;P	0.67145	0.996;0.907	P;P	0.62649	0.905;0.552	T	0.82341	-0.0505	10	0.72032	D	0.01	.	19.325	0.94258	0.0:0.0:1.0:0.0	.	920;920	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	L	920;920;246	ENSP00000265293:R920L;ENSP00000427772:R920L;ENSP00000428084:R246L	ENSP00000265293:R920L	R	+	2	0	WWC1	167815039	1.000000	0.71417	0.998000	0.56505	0.659000	0.38960	9.772000	0.98984	2.559000	0.86315	0.655000	0.94253	CGA		0.642	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		41	117	1	0	1.5731e-28	1	2.60474e-28	41	117				
NRXN3	9369	broad.mit.edu	37	14	80158584	80158584	+	Intron	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:80158584G>A	ENST00000557594.1	+	4	1554				RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.E224K	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3						adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCGGCCTGTAGAGGAGTGGCT	0.338																																						ENST00000428277.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(670-672)Gag>Aag		neurexin 3							51.0	49.0	49.0					14																	80158584		1802	4072	5874	SO:0001627	intron_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80158584G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.602-5389G>A	14.37:g.80158584G>A						NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000557594.1_Intron|RP11-242P2.1_ENST00000553322.1_RNA	p.E224K	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	1056	+		Renal(4;0.00876)	200			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.670G>A		.	.	.	.	.	.	.	.	.	.	G	25.1	4.598592	0.87055	.	.	ENSG00000021645	ENST00000332068;ENST00000428277	T	0.37752	1.18	5.45	5.45	0.79879	.	.	.	.	.	T	0.62344	0.2420	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62081	-0.6929	7	.	.	.	.	19.2998	0.94140	0.0:0.0:1.0:0.0	.	224	Q9HDB5-4	.	K	1218;224	ENSP00000394426:E224K	.	E	+	1	0	NRXN3	79228337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.555000	0.86185	0.650000	0.86243	GAG		0.338	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		23	19	0	0	0	1	0	23	19				
KNDC1	85442	broad.mit.edu	37	10	135038256	135038256	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:135038256G>T	ENST00000304613.3	+	30	5133	c.5112G>T	c.(5110-5112)caG>caT	p.Q1704H	KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1706H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1704	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACCTCAAGCAGAGGATTGCCC	0.592																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(5110-5112)caG>caT		kinase non-catalytic C-lobe domain (KIND) containing 1							85.0	70.0	75.0					10																	135038256		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135038256G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.5112G>T	10.37:g.135038256G>T	ENSP00000304437:p.Gln1704His					KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1706H	p.Q1704H			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	30	5133	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1704			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.5112G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883871	0.33255	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.29655	1.56;1.56	4.41	-4.46	0.03536	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.449943	0.22104	N	0.064566	T	0.16300	0.0392	L	0.40543	1.245	0.37919	D	0.931638	P	0.34699	0.464	B	0.26864	0.074	T	0.02009	-1.1230	10	0.45353	T	0.12	-8.8081	7.2628	0.26214	0.4687:0.1216:0.4097:0.0	.	1704	Q76NI1	VKIND_HUMAN	H	1704;1706	ENSP00000304437:Q1704H;ENSP00000357561:Q1706H	ENSP00000304437:Q1704H	Q	+	3	2	KNDC1	134888246	0.010000	0.17322	0.835000	0.33067	0.627000	0.37826	-0.378000	0.07446	-0.867000	0.04063	-0.157000	0.13467	CAG		0.592	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		19	40	1	0	2.94398e-08	1	3.65598e-08	19	40				
DSEL	92126	broad.mit.edu	37	18	65180507	65180507	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:65180507C>T	ENST00000310045.7	-	2	2842	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	447					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGAACTATGTCATACACAGCT	0.463																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1369-1371)Gac>Aac		dermatan sulfate epimerase-like							81.0	80.0	81.0					18																	65180507		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180507C>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1369G>A	18.37:g.65180507C>T	ENSP00000310565:p.Asp457Asn					CTD-2541J13.2_ENST00000583493.1_RNA	p.D457N	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	2842	-		Esophageal squamous(42;0.129)	447					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.1369G>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464608	0.84425	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.26223	1.75	5.46	5.46	0.80206	.	0.000000	0.85682	U	0.000000	T	0.51907	0.1702	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.48151	-0.9060	10	0.49607	T	0.09	-18.1208	19.3189	0.94229	0.0:1.0:0.0:0.0	.	447	Q8IZU8	DSEL_HUMAN	N	457;447	ENSP00000310565:D457N	ENSP00000310565:D457N	D	-	1	0	DSEL	63331487	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.633000	0.83260	2.577000	0.86979	0.563000	0.77884	GAC		0.463	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		18	63	0	0	0	1	0	18	63				
ATP6V1B1	525	broad.mit.edu	37	2	71185208	71185208	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:71185208C>A	ENST00000234396.4	+	3	280	c.207C>A	c.(205-207)acC>acA	p.T69T	ATP6V1B1_ENST00000412314.1_Silent_p.T69T|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	69					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TCCACTTCACCCTCCCAGATG	0.592																																						ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(205-207)acC>acA		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1							78.0	72.0	74.0					2																	71185208		2203	4300	6503	SO:0001819	synonymous_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71185208C>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.207C>A	2.37:g.71185208C>A						ATP6V1B1_ENST00000412314.1_Silent_p.T69T|AC007040.11_ENST00000606025.1_Intron	p.T69T	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			3	280	+			69					Q53FY0|Q6P4H6	Silent	SNP	ENST00000234396.4	37	c.207C>A	CCDS1912.1																																																																																				0.592	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		6	34	1	0	5.18039e-06	1	5.95582e-06	6	34				
ZNF623	9831	broad.mit.edu	37	8	144733583	144733583	+	Missense_Mutation	SNP	C	C	A	rs370358100		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:144733583C>A	ENST00000501748.2	+	1	1630	c.1541C>A	c.(1540-1542)tCc>tAc	p.S514Y	ZNF623_ENST00000526926.1_Missense_Mutation_p.S474Y|ZNF623_ENST00000458270.2_Missense_Mutation_p.S474Y	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	514					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGGGACTCTCCTTGAGTAAG	0.413																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(1540-1542)tCc>tAc		zinc finger protein 623							70.0	72.0	71.0					8																	144733583		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733583C>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1541C>A	8.37:g.144733583C>A	ENSP00000445979:p.Ser514Tyr					ZNF623_ENST00000458270.2_Missense_Mutation_p.S474Y|ZNF623_ENST00000526926.1_Missense_Mutation_p.S474Y	p.S514Y	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1630	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		514					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1541C>A	CCDS34957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.85|11.85	1.762567|1.762567	0.31228|0.31228	.|.	.|.	ENSG00000183309|ENSG00000183309	ENST00000328466|ENST00000526926;ENST00000458270;ENST00000532796;ENST00000501748	.|T;T;T	.|0.06768	.|3.27;3.27;3.26	3.43|3.43	0.363|0.363	0.16118|0.16118	.|.	.|.	.|.	.|.	.|.	T|T	0.04815|0.04815	0.0130|0.0130	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.24483	.|0.104	.|B	.|0.19391	.|0.025	T|T	0.38845|0.38845	-0.9642|-0.9642	6|9	0.87932|0.72032	D|D	0|0.01	0.0058|0.0058	5.9404|5.9404	0.19189|0.19189	0.2489:0.4008:0.3503:0.0|0.2489:0.4008:0.3503:0.0	.|.	.|514	.|O75123	.|ZN623_HUMAN	T|Y	474|474;474;514;514	.|ENSP00000435232:S474Y;ENSP00000411139:S474Y;ENSP00000445979:S514Y	ENSP00000330358:P474T|ENSP00000411139:S474Y	P|S	+|+	1|2	0|0	ZNF623|ZNF623	144804726|144804726	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.468000|0.468000	0.32798|0.32798	-0.210000|-0.210000	0.09345|0.09345	0.059000|0.059000	0.16252|0.16252	0.491000|0.491000	0.48974|0.48974	CCT|TCC		0.413	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		27	69	1	0	8.24728e-16	1	1.24802e-15	27	69				
CALCB	797	broad.mit.edu	37	11	15096346	15096346	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:15096346T>C	ENST00000533448.1	+	2	193	c.82T>C	c.(82-84)Ttc>Ctc	p.F28L	CALCB_ENST00000523376.1_Missense_Mutation_p.F39L|CALCB_ENST00000324229.6_Missense_Mutation_p.F28L			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	28					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						GGCGGCGCCATTCAGGTGAGA	0.617											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000523376.1																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(115-117)Ttc>Ctc		calcitonin-related polypeptide beta							50.0	51.0	50.0					11																	15096346		2200	4294	6494	SO:0001583	missense	797				cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr11:15096346T>C		CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"""Endogenous ligands"""	1438	protein-coding gene	gene with protein product		114160	"""calcitonin 2"""	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.82T>C	11.37:g.15096346T>C	ENSP00000433490:p.Phe28Leu		OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	700	CALCB_ENST00000324229.6_Missense_Mutation_p.F28L|CALCB_ENST00000533448.1_Missense_Mutation_p.F28L	p.F39L			P10092	CALCB_HUMAN			7	1377	+			28					A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	ENST00000533448.1	37	c.115T>C	CCDS7820.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263887	0.23136	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.19806	2.12;2.12;2.12	5.26	0.242	0.15498	.	0.117882	0.39475	N	0.001359	T	0.11110	0.0271	L	0.28054	0.825	0.25043	N	0.991189	B	0.12013	0.005	B	0.12156	0.007	T	0.22382	-1.0218	10	0.26408	T	0.33	-3.3142	5.3326	0.15940	0.0:0.3307:0.1609:0.5084	.	28	P10092	CALCB_HUMAN	L	39;28;28	ENSP00000428882:F39L;ENSP00000346017:F28L;ENSP00000433490:F28L	ENSP00000346017:F28L	F	+	1	0	CALCB	15052922	0.997000	0.39634	0.623000	0.29173	0.524000	0.34500	0.787000	0.26858	0.071000	0.16664	0.459000	0.35465	TTC		0.617	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387433.1	NM_000728		13	38	0	0	0	1	0	13	38				
PIK3CG	5294	broad.mit.edu	37	7	106508992	106508992	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:106508992G>T	ENST00000359195.3	+	2	1296	c.986G>T	c.(985-987)tGc>tTc	p.C329F	PIK3CG_ENST00000440650.2_Missense_Mutation_p.C329F|PIK3CG_ENST00000496166.1_Missense_Mutation_p.C329F	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	329					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGGATGACTGCACGGGAGTC	0.597																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(985-987)tGc>tTc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							80.0	71.0	74.0					7																	106508992		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508992G>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.986G>T	7.37:g.106508992G>T	ENSP00000352121:p.Cys329Phe					PIK3CG_ENST00000496166.1_Missense_Mutation_p.C329F|PIK3CG_ENST00000440650.2_Missense_Mutation_p.C329F	p.C329F	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1296	+			329					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.986G>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503979	0.26949	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69175	-0.38;-0.38;-0.38	5.6	5.6	0.85130	.	0.043407	0.85682	D	0.000000	T	0.62060	0.2397	L	0.57536	1.79	0.80722	D	1	B	0.16603	0.018	B	0.09377	0.004	T	0.60722	-0.7207	10	0.06625	T	0.88	-26.1871	19.6034	0.95572	0.0:0.0:1.0:0.0	.	329	P48736	PK3CG_HUMAN	F	329	ENSP00000392258:C329F;ENSP00000419260:C329F;ENSP00000352121:C329F	ENSP00000352121:C329F	C	+	2	0	PIK3CG	106296228	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	9.807000	0.99171	2.637000	0.89404	0.561000	0.74099	TGC		0.597	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			14	62	1	0	2.35188e-11	1	3.19409e-11	14	62				
GRIA1	2890	broad.mit.edu	37	5	153085450	153085450	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:153085450G>T	ENST00000285900.5	+	11	1989	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	GRIA1_ENST00000448073.4_Missense_Mutation_p.G559V|GRIA1_ENST00000521843.2_Missense_Mutation_p.G480V|GRIA1_ENST00000340592.5_Missense_Mutation_p.G549V|GRIA1_ENST00000518783.1_Missense_Mutation_p.G559V|GRIA1_ENST00000518142.1_Missense_Mutation_p.G469V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	549					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GCCTACATTGGAGTGAGTGTT	0.473																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1645-1647)gGa>gTa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						216.0	195.0	202.0					5																	153085450		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153085450G>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1646G>T	5.37:g.153085450G>T	ENSP00000285900:p.Gly549Val					GRIA1_ENST00000521843.2_Missense_Mutation_p.G480V|GRIA1_ENST00000448073.4_Missense_Mutation_p.G559V|GRIA1_ENST00000340592.5_Missense_Mutation_p.G549V|GRIA1_ENST00000518783.1_Missense_Mutation_p.G559V|GRIA1_ENST00000518142.1_Missense_Mutation_p.G469V	p.G549V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		11	1989	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	549					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1646G>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601905	0.87055	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;D;T;T;T	0.98060	2.04;2.04;2.04;-4.69;2.04;2.04;2.04	5.06	5.06	0.68205	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.97888	0.9306	L	0.41906	1.305	0.80722	D	1	D;D;P;D;D;D	0.89917	1.0;1.0;0.933;1.0;0.999;0.999	D;D;P;D;D;D	0.79784	0.993;0.993;0.897;0.993;0.988;0.98	D	0.99478	1.0947	10	0.87932	D	0	.	17.7763	0.88510	0.0:0.0:1.0:0.0	.	559;559;469;559;549;549	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	V	549;549;469;503;549;480;480;559;559	ENSP00000285900:G549V;ENSP00000427920:G469V;ENSP00000339343:G549V;ENSP00000427864:G480V;ENSP00000442108:G480V;ENSP00000428994:G559V;ENSP00000415569:G559V	ENSP00000285900:G549V	G	+	2	0	GRIA1	153065643	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.585000	0.98223	2.497000	0.84241	0.655000	0.94253	GGA		0.473	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			18	80	1	0	5.03518e-11	1	6.76788e-11	18	80				
ZNF384	171017	broad.mit.edu	37	12	6787360	6787360	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:6787360T>G	ENST00000396801.3	-	6	826	c.619A>C	c.(619-621)Atg>Ctg	p.M207L	ZNF384_ENST00000319770.3_Missense_Mutation_p.M191L|ZNF384_ENST00000396795.1_Missense_Mutation_p.M207L|ZNF384_ENST00000361959.3_Missense_Mutation_p.M207L|ZNF384_ENST00000396799.2_Missense_Mutation_p.M207L|ZNF384_ENST00000355772.4_Missense_Mutation_p.M152L	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	207					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGGTCATTCATCTCGGGCAGC	0.602			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(619-621)Atg>Ctg		zinc finger protein 384							142.0	137.0	139.0					12																	6787360		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6787360T>G	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.619A>C	12.37:g.6787360T>G	ENSP00000380019:p.Met207Leu					ZNF384_ENST00000319770.3_Missense_Mutation_p.M191L|ZNF384_ENST00000396799.2_Missense_Mutation_p.M207L|ZNF384_ENST00000396801.3_Missense_Mutation_p.M207L|ZNF384_ENST00000361959.3_Missense_Mutation_p.M207L|ZNF384_ENST00000355772.4_Missense_Mutation_p.M152L	p.M207L			Q8TF68	ZN384_HUMAN			5	1116	-			207					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.619A>C	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.366513	0.24771	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796	T;T;T;T;T;T;T	0.06371	3.37;3.38;3.31;3.31;3.37;3.38;3.73	5.48	5.48	0.80851	.	0.314770	0.36066	N	0.002819	T	0.02610	0.0079	N	0.01576	-0.805	0.38856	D	0.956387	B;B;B;B;B	0.10296	0.003;0.001;0.002;0.002;0.002	B;B;B;B;B	0.10450	0.003;0.005;0.002;0.003;0.003	T	0.46830	-0.9163	10	0.09338	T	0.73	-18.8449	14.1563	0.65419	0.0:0.0:0.0:1.0	.	207;207;152;191;207	Q8TF68;E9PHB3;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.;.	L	191;207;207;207;152;207;207;191;191	ENSP00000321650:M191L;ENSP00000380013:M207L;ENSP00000380019:M207L;ENSP00000354592:M207L;ENSP00000348018:M152L;ENSP00000380017:M207L;ENSP00000412911:M191L	ENSP00000321650:M191L	M	-	1	0	ZNF384	6657621	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.167000	0.64972	2.073000	0.62155	0.482000	0.46254	ATG		0.602	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			25	139	0	0	0	1	0	25	139				
CFH	3075	broad.mit.edu	37	1	196658548	196658548	+	Splice_Site	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:196658548A>T	ENST00000359637.2	+	7	834		c.e7-1		CFH_ENST00000367429.4_Splice_Site|CFH_ENST00000439155.2_Splice_Site			P08603	CFAH_HUMAN	complement factor H						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ttttattGCAAGTGAAACCTT	0.274																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.e8-1		complement factor H							41.0	40.0	40.0					1																	196658548		2203	4300	6503	SO:0001630	splice_region_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658548A>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.773-1A>T	1.37:g.196658548A>T						CFH_ENST00000359637.2_Splice_Site|CFH_ENST00000439155.2_Splice_Site		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			8	1204	+								A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Splice_Site	SNP	ENST00000359637.2	37			.	.	.	.	.	.	.	.	.	.	A	11.11	1.540919	0.27563	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4788	0.55829	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CFH	194925171	1.000000	0.71417	0.971000	0.41717	0.120000	0.20174	4.620000	0.61226	2.269000	0.75478	0.533000	0.62120	.		0.274	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186	Intron	7	30	0	0	0	1	0	7	30				
ELMO1	9844	broad.mit.edu	37	7	37172764	37172764	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:37172764C>T	ENST00000310758.4	-	14	1809	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	ELMO1_ENST00000448602.1_Missense_Mutation_p.A388T|ELMO1_ENST00000341056.3_Missense_Mutation_p.A90T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A388T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	388	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGGTGCTTGGCAAAGTACAGC	0.443																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1162-1164)Gcc>Acc		engulfment and cell motility 1							169.0	143.0	152.0					7																	37172764		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37172764C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1162G>A	7.37:g.37172764C>T	ENSP00000312185:p.Ala388Thr					ELMO1_ENST00000442504.1_Missense_Mutation_p.A388T|ELMO1_ENST00000341056.3_Missense_Mutation_p.A90T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A388T	p.A388T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			14	1809	-			388			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1162G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629601	0.96671	.	.	ENSG00000155849	ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.27	5.27	0.74061	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.65055	-0.6261	10	0.72032	D	0.01	.	18.0472	0.89336	0.0:1.0:0.0:0.0	.	388	Q92556	ELMO1_HUMAN	T	90;388;292;388;388	ENSP00000342142:A90T;ENSP00000312185:A388T;ENSP00000406952:A388T;ENSP00000394458:A388T	ENSP00000312185:A388T	A	-	1	0	ELMO1	37139289	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	7.006000	0.76329	2.650000	0.89964	0.655000	0.94253	GCC		0.443	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		7	48	0	0	0	1	0	7	48				
RIBC2	26150	broad.mit.edu	37	22	45813702	45813702	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:45813702G>T	ENST00000342894.3	+	3	627	c.213G>T	c.(211-213)caG>caT	p.Q71H	RIBC2_ENST00000538017.1_Missense_Mutation_p.Q139H			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	71						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGGAATGCAGAAATTCATGG	0.453																																						ENST00000342894.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10						c.(211-213)caG>caT		RIB43A domain with coiled-coils 2							57.0	54.0	55.0					22																	45813702		2203	4300	6503	SO:0001583	missense	26150							g.chr22:45813702G>T	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.213G>T	22.37:g.45813702G>T	ENSP00000342529:p.Gln71His					RIBC2_ENST00000538017.1_Missense_Mutation_p.Q139H	p.Q71H			Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	3	627	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	71					Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37	c.213G>T		.	.	.	.	.	.	.	.	.	.	G	18.00	3.525444	0.64860	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.53423	0.62;0.62	4.75	2.48	0.30137	.	0.072187	0.56097	D	0.000023	T	0.66096	0.2755	.	.	.	0.46260	D	0.998954	D	0.89917	1.0	D	0.85130	0.997	T	0.69676	-0.5081	9	0.87932	D	0	-9.1912	11.1519	0.48464	0.0:0.1384:0.7178:0.1437	.	71	Q9H4K1	RIBC2_HUMAN	H	71;139	ENSP00000342529:Q71H;ENSP00000444196:Q139H	ENSP00000342529:Q71H	Q	+	3	2	RIBC2	44192366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.146000	0.58072	0.928000	0.37168	0.563000	0.77884	CAG		0.453	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		11	41	1	0	6.40141e-05	1	7.09199e-05	11	41				
CNGA3	1261	broad.mit.edu	37	2	98986450	98986450	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:98986450C>A	ENST00000272602.2	+	1	51	c.12C>A	c.(10-12)atC>atA	p.I4I	CNGA3_ENST00000436404.2_Silent_p.I4I|CNGA3_ENST00000393504.1_Silent_p.I4I			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	4					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGCCAAGATCAACACCCAAT	0.502																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(10-12)atC>atA		cyclic nucleotide gated channel alpha 3							156.0	126.0	136.0					2																	98986450		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98986450C>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.12C>A	2.37:g.98986450C>A						CNGA3_ENST00000272602.2_Silent_p.I4I|CNGA3_ENST00000436404.2_Silent_p.I4I	p.I4I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			2	429	+			4					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.12C>A	CCDS2034.1																																																																																				0.502	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		8	24	1	0	1.12685e-05	1	1.27784e-05	8	24				
OR11A1	26531	broad.mit.edu	37	6	29395018	29395018	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29395018G>A	ENST00000377149.1	-	5	873	c.401C>T	c.(400-402)cCa>cTa	p.P134L	OR11A1_ENST00000377147.2_Missense_Mutation_p.P134L|OR11A1_ENST00000377148.1_Missense_Mutation_p.P134L|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P134Q(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CATCAGGAGTGGGTAGTGGAG	0.562																																						ENST00000377149.1																			1	Substitution - Missense(1)	p.P134Q(1)	lung(1)	cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(400-402)cCa>cTa		olfactory receptor, family 11, subfamily A, member 1							70.0	78.0	75.0					6																	29395018		1507	2707	4214	SO:0001583	missense	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29395018G>A		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.401C>T	6.37:g.29395018G>A	ENSP00000366354:p.Pro134Leu					OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.P134L|OR11A1_ENST00000377148.1_Missense_Mutation_p.P134L	p.P134L			Q9GZK7	O11A1_HUMAN			5	873	-			134					A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	37	c.401C>T	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	G	9.923	1.212703	0.22289	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.02345	4.33;4.33;4.33	3.78	3.78	0.43462	GPCR, rhodopsin-like superfamily (1);	0.198863	0.25047	N	0.033558	T	0.01156	0.0038	L	0.33668	1.02	0.09310	N	0.999995	B	0.16396	0.017	B	0.13407	0.009	T	0.43893	-0.9363	10	0.62326	D	0.03	-16.4274	11.3175	0.49401	0.0:0.1861:0.8138:0.0	.	134	Q9GZK7	O11A1_HUMAN	L	134	ENSP00000366353:P134L;ENSP00000366354:P134L;ENSP00000366352:P134L	ENSP00000366352:P134L	P	-	2	0	OR11A1	29502997	0.000000	0.05858	0.977000	0.42913	0.465000	0.32709	0.302000	0.19192	1.926000	0.55796	0.405000	0.27470	CCA		0.562	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			14	47	0	0	0	1	0	14	47				
NOX3	50508	broad.mit.edu	37	6	155774613	155774613	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:155774613C>T	ENST00000159060.2	-	4	367	c.265G>A	c.(265-267)Gga>Aga	p.G89R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	89	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTCCACGGTCCTCTGCAGCAC	0.393																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(265-267)Gga>Aga		NADPH oxidase 3							189.0	195.0	193.0					6																	155774613		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155774613C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.265G>A	6.37:g.155774613C>T	ENSP00000159060:p.Gly89Arg						p.G89R	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	4	367	-		Breast(66;0.0183)	89			Ferric oxidoreductase.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.265G>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727438	0.30593	.	.	ENSG00000074771	ENST00000159060	D	0.95171	-3.63	5.92	5.92	0.95590	Flavoprotein transmembrane component (1);	0.000000	0.64402	D	0.000010	D	0.91106	0.7200	N	0.03608	-0.345	0.50632	D	0.999888	D	0.89917	1.0	D	0.97110	1.0	D	0.91199	0.4990	10	0.24483	T	0.36	-19.0037	18.5012	0.90882	0.0:1.0:0.0:0.0	.	89	Q9HBY0	NOX3_HUMAN	R	89	ENSP00000159060:G89R	ENSP00000159060:G89R	G	-	1	0	NOX3	155816305	1.000000	0.71417	0.987000	0.45799	0.930000	0.56654	2.174000	0.42482	2.809000	0.96659	0.655000	0.94253	GGA		0.393	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			41	136	0	0	0	1	0	41	136				
PRPF3	9129	broad.mit.edu	37	1	150318543	150318543	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:150318543G>T	ENST00000324862.6	+	13	1855	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.A515S|PRPF3_ENST00000543398.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	564					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TGAAGCCAATGCTGGGCAACT	0.483																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1690-1692)Gct>Tct		pre-mRNA processing factor 3							190.0	200.0	197.0					1																	150318543		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150318543G>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1690G>T	1.37:g.150318543G>T	ENSP00000315379:p.Ala564Ser					PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.A515S	p.A564S	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	13	1855	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		564					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.1690G>T	CCDS951.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841566	0.91197	.	.	ENSG00000117360	ENST00000324862;ENST00000414970	D;D	0.88975	-2.45;-2.36	5.97	5.97	0.96955	Domain of unknown function DUF1115 (1);	0.000000	0.85682	D	0.000000	D	0.94843	0.8334	M	0.87180	2.865	0.80722	D	1	D;D	0.65815	0.991;0.995	D;D	0.67382	0.913;0.951	D	0.93943	0.7225	10	0.52906	T	0.07	-9.123	20.4135	0.99023	0.0:0.0:1.0:0.0	.	515;564	E7EVD1;O43395	.;PRPF3_HUMAN	S	564;515	ENSP00000315379:A564S;ENSP00000387844:A515S	ENSP00000315379:A564S	A	+	1	0	PRPF3	148585167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.782000	0.99034	2.835000	0.97688	0.591000	0.81541	GCT		0.483	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		59	249	1	0	1.16596e-39	1	1.95538e-39	59	249				
DUSP22	56940	broad.mit.edu	37	6	348268	348268	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:348268C>G	ENST00000344450.5	+	6	872	c.429C>G	c.(427-429)gtC>gtG	p.V143V	DUSP22_ENST00000603453.1_Silent_p.V40V|DUSP22_ENST00000419235.2_Silent_p.V143V|DUSP22_ENST00000605863.1_Silent_p.V40V|DUSP22_ENST00000604971.1_Silent_p.V40V|DUSP22_ENST00000605315.1_Silent_p.V40V|DUSP22_ENST00000605035.1_Silent_p.V40V	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	143					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCATGAGGTCCATCAGGTAA	0.587																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(118-120)gtC>gtG		dual specificity phosphatase 22							98.0	89.0	92.0					6																	348268		2203	4300	6503	SO:0001819	synonymous_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348268C>G	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.429C>G	6.37:g.348268C>G						DUSP22_ENST00000419235.2_Silent_p.V143V|DUSP22_ENST00000605035.1_Silent_p.V40V|DUSP22_ENST00000344450.5_Silent_p.V143V|DUSP22_ENST00000603453.1_Silent_p.V40V|DUSP22_ENST00000605315.1_Silent_p.V40V|DUSP22_ENST00000605863.1_Silent_p.V40V	p.V40V			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	3	1233	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	143					B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	c.120C>G	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	C	8.145	0.786021	0.16189	.	.	ENSG00000112679	ENST00000419235	.	.	.	5.82	-3.05	0.05396	.	.	.	.	.	T	0.19886	0.0478	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37478	-0.9704	4	.	.	.	.	0.6077	0.00755	0.2013:0.2969:0.2092:0.2927	.	.	.	.	A	81	.	.	P	+	1	0	DUSP22	293268	0.000000	0.05858	0.331000	0.25455	0.901000	0.52897	-1.019000	0.03622	-0.406000	0.07588	-0.150000	0.13652	CCA		0.587	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		13	107	0	0	0	1	0	13	107				
TLL2	7093	broad.mit.edu	37	10	98170212	98170212	+	Silent	SNP	C	C	T	rs374275574		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:98170212C>T	ENST00000357947.3	-	9	1293	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	356	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCGTTGTGTCCTGCAGGGTCT	0.582																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1066-1068)caG>caA		tolloid-like 2							88.0	76.0	80.0					10																	98170212		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98170212C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1068G>A	10.37:g.98170212C>T						TLL2_ENST00000469598.1_5'UTR	p.Q356Q	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	9	1293	-		Colorectal(252;0.0846)	356			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.1068G>A	CCDS7449.1																																																																																				0.582	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			4	21	0	0	0	1	0	4	21				
SLC22A12	116085	broad.mit.edu	37	11	64368360	64368360	+	Silent	SNP	C	C	A	rs145764379		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:64368360C>A	ENST00000377574.1	+	9	2295	c.1548C>A	c.(1546-1548)ccC>ccA	p.P516P	SLC22A12_ENST00000473690.1_Silent_p.P295P|SLC22A12_ENST00000336464.7_Silent_p.P482P|SLC22A12_ENST00000377572.1_Silent_p.P408P|SLC22A12_ENST00000377567.2_Silent_p.P408P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	516					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	TGCTTCTGCCCGAGACCCAGA	0.667																																						ENST00000377574.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1546-1548)ccC>ccA		solute carrier family 22 (organic anion/urate transporter), member 12							88.0	90.0	89.0					11																	64368360		2201	4297	6498	SO:0001819	synonymous_variant	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64368360C>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1548C>A	11.37:g.64368360C>A						SLC22A12_ENST00000377572.1_Silent_p.P408P|SLC22A12_ENST00000377567.2_Silent_p.P408P|SLC22A12_ENST00000473690.1_Silent_p.P295P|SLC22A12_ENST00000336464.7_Silent_p.P482P	p.P516P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN			9	2295	+			516					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	c.1548C>A	CCDS8075.1																																																																																				0.667	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		33	134	1	0	6.97489e-18	1	1.08789e-17	33	134				
ANKRD45	339416	broad.mit.edu	37	1	173628228	173628228	+	Splice_Site	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:173628228A>T	ENST00000333279.2	-	2	389		c.e2+1		snoU13_ENST00000459202.1_RNA	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45											NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AAGACAAAATACCTCTGGTGG	0.348																																						ENST00000333279.2																			0				NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						c.e2+1		ankyrin repeat domain 45							62.0	64.0	63.0					1																	173628228		2203	4300	6503	SO:0001630	splice_region_variant	339416							g.chr1:173628228A>T		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.328+1T>A	1.37:g.173628228A>T								NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN			2	389	-								A1A4G2|Q6ZST1	Splice_Site	SNP	ENST00000333279.2	37		CCDS1309.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076407	0.76415	.	.	ENSG00000183831	ENST00000333279	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5083	0.67767	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD45	171894851	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.893000	0.63199	2.320000	0.78422	0.528000	0.53228	.		0.348	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493	Intron	14	51	0	0	0	1	0	14	51				
XPR1	9213	broad.mit.edu	37	1	180756961	180756961	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:180756961A>T	ENST00000367590.4	+	3	392	c.194A>T	c.(193-195)gAa>gTa	p.E65V	XPR1_ENST00000367589.3_Missense_Mutation_p.E65V	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	65	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTGAAAAAGAACTTGCCAAA	0.323																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(193-195)gAa>gTa		xenotropic and polytropic retrovirus receptor 1							98.0	110.0	106.0					1																	180756961		2203	4299	6502	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180756961A>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.194A>T	1.37:g.180756961A>T	ENSP00000356562:p.Glu65Val					XPR1_ENST00000367589.3_Missense_Mutation_p.E65V	p.E65V	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			3	392	+			65			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.194A>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446150	0.84101	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.59772	0.24	5.0	5.0	0.66597	SPX, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81870	0.4914	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.87015	0.2125	10	0.87932	D	0	-10.9553	13.7169	0.62702	1.0:0.0:0.0:0.0	.	65;65	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	V	65	ENSP00000356562:E65V	ENSP00000356561:E65V	E	+	2	0	XPR1	179023584	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.364000	0.90105	1.886000	0.54624	0.454000	0.30748	GAA		0.323	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		36	96	0	0	0	1	0	36	96				
TNIP3	79931	broad.mit.edu	37	4	122075751	122075751	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:122075751G>C	ENST00000509841.1	-	8	756	c.678C>G	c.(676-678)aaC>aaG	p.N226K	TNIP3_ENST00000057513.3_Missense_Mutation_p.N149K|TNIP3_ENST00000454328.1_Missense_Mutation_p.N149K|TNIP3_ENST00000507879.1_Missense_Mutation_p.N219K	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CCTTTTCCTTGTTCGCAAGAG	0.348																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(445-447)aaC>aaG		TNFAIP3 interacting protein 3							176.0	161.0	166.0					4																	122075751		2203	4300	6503	SO:0001583	missense	79931							g.chr4:122075751G>C	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.678C>G	4.37:g.122075751G>C	ENSP00000426613:p.Asn226Lys					TNIP3_ENST00000507879.1_Missense_Mutation_p.N219K|TNIP3_ENST00000057513.3_Missense_Mutation_p.N149K|TNIP3_ENST00000509841.1_Missense_Mutation_p.N226K	p.N149K			Q96KP6	TNIP3_HUMAN			7	674	-			149						Missense_Mutation	SNP	ENST00000509841.1	37	c.447C>G	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	G	6.128	0.391844	0.11581	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	4.71	0.807	0.18714	.	0.547984	0.17966	N	0.156019	T	0.45558	0.1348	M	0.66939	2.045	0.09310	N	1	P;P;P	0.47910	0.763;0.763;0.902	B;B;B	0.36608	0.173;0.173;0.229	T	0.46034	-0.9220	10	0.72032	D	0.01	-0.6907	4.0181	0.09654	0.1754:0.1153:0.5914:0.1179	.	219;149;149	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	K	149;149;219;226	ENSP00000057513:N149K;ENSP00000411817:N149K;ENSP00000427106:N219K;ENSP00000426613:N226K	ENSP00000057513:N149K	N	-	3	2	TNIP3	122295201	0.051000	0.20477	0.000000	0.03702	0.030000	0.12068	0.396000	0.20867	-0.009000	0.14296	0.655000	0.94253	AAC		0.348	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		6	37	0	0	0	1	0	6	37				
SHOC2	8036	broad.mit.edu	37	10	112724338	112724338	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:112724338G>T	ENST00000369452.4	+	2	567	c.222G>T	c.(220-222)cgG>cgT	p.R74R	SHOC2_ENST00000265277.5_Silent_p.R74R|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	74					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CGATCAAACGGCCAAACCCAG	0.458																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(220-222)cgG>cgT		soc-2 suppressor of clear homolog (C. elegans)							75.0	73.0	73.0					10																	112724338		2203	4300	6503	SO:0001819	synonymous_variant	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724338G>T	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.222G>T	10.37:g.112724338G>T						SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.R74R	p.R74R	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	567	+			74					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	c.222G>T	CCDS7568.1																																																																																				0.458	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		17	76	1	0	4.14922e-12	1	5.72868e-12	17	76				
RNF112	7732	broad.mit.edu	37	17	19316364	19316364	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:19316364G>T	ENST00000461366.1	+	4	710	c.495G>T	c.(493-495)agG>agT	p.R165S	RNF112_ENST00000580109.1_Intron|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	165						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTCTGGCCAGGGACACCCCAG	0.647																																						ENST00000461366.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(493-495)agG>agT		ring finger protein 112							20.0	23.0	22.0					17																	19316364		2098	4226	6324	SO:0001583	missense	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19316364G>T	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.495G>T	17.37:g.19316364G>T	ENSP00000454919:p.Arg165Ser					CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_Intron	p.R165S	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN			4	710	+			165					O60633|Q7Z5V9	Missense_Mutation	SNP	ENST00000461366.1	37	c.495G>T	CCDS58529.1																																																																																				0.647	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4	NM_007148		5	26	1	0	0.00116845	1	0.00124037	5	26				
CACNB4	785	broad.mit.edu	37	2	152728961	152728961	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:152728961C>A	ENST00000539935.1	-	6	635	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	CACNB4_ENST00000427385.1_Missense_Mutation_p.G172W|CACNB4_ENST00000360283.6_Missense_Mutation_p.G156W|CACNB4_ENST00000397327.2_Missense_Mutation_p.G143W|CACNB4_ENST00000201943.5_Missense_Mutation_p.G190W|CACNB4_ENST00000534999.1_Missense_Mutation_p.G156W	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	190					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGAATGTCCCAGATACCATT	0.368																																						ENST00000360283.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(466-468)Ggg>Tgg		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						118.0	117.0	118.0					2																	152728961		1830	4087	5917	SO:0001583	missense	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152728961C>A	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.568G>T	2.37:g.152728961C>A	ENSP00000438949:p.Gly190Trp					CACNB4_ENST00000539935.1_Missense_Mutation_p.G190W|CACNB4_ENST00000427385.1_Missense_Mutation_p.G172W|CACNB4_ENST00000201943.5_Missense_Mutation_p.G190W|CACNB4_ENST00000534999.1_Missense_Mutation_p.G156W|CACNB4_ENST00000397327.2_Missense_Mutation_p.G143W	p.G156W			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	5	723	-			190					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	37	c.466G>T	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802621	0.90623	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.98	5.98	0.97165	Src homology-3 domain (1);	0.096786	0.64402	D	0.000001	D	0.91395	0.7285	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.999	P;D;P;P;D	0.73708	0.879;0.981;0.879;0.879;0.91	D	0.91296	0.5063	10	0.87932	D	0	-19.6024	20.4581	0.99154	0.0:1.0:0.0:0.0	.	190;156;190;172;156	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	W	190;156;147;185;156;143;172;190;190	ENSP00000438949:G190W;ENSP00000353425:G156W;ENSP00000390161:G185W;ENSP00000443893:G156W;ENSP00000380490:G143W;ENSP00000410978:G172W;ENSP00000201943:G190W	ENSP00000201943:G190W	G	-	1	0	CACNB4	152437207	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.434000	0.80377	2.835000	0.97688	0.650000	0.86243	GGG		0.368	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		19	71	1	0	4.35082e-09	1	5.56174e-09	19	71				
TRIM48	79097	broad.mit.edu	37	11	55036774	55036774	+	Missense_Mutation	SNP	G	G	T	rs183137757	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55036774G>T	ENST00000417545.2	+	5	721	c.635G>T	c.(634-636)gGg>gTg	p.G212V		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	196						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G212E(1)|p.G196E(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCAGGGCAGGGCCCATCACT	0.502																																						ENST00000417545.2																			2	Substitution - Missense(2)	p.G212E(1)|p.G196E(1)	lung(2)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(634-636)gGg>gTg		tripartite motif containing 48							50.0	41.0	44.0					11																	55036774		2097	3971	6068	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55036774G>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.635G>T	11.37:g.55036774G>T	ENSP00000402414:p.Gly212Val						p.G212V	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			5	721	+			196					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.635G>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	g	2.633	-0.286012	0.05605	.	.	ENSG00000150244	ENST00000417545	T	0.75367	-0.93	0.596	-1.19	0.09585	.	.	.	.	.	T	0.78342	0.4268	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.65651	-0.6116	8	0.46703	T	0.11	.	.	.	.	.	196	Q8IWZ4	TRI48_HUMAN	V	212	ENSP00000402414:G212V	ENSP00000402414:G212V	G	+	2	0	TRIM48	54793350	0.118000	0.22208	0.001000	0.08648	0.009000	0.06853	0.439000	0.21575	-1.193000	0.02688	-0.506000	0.04501	GGG		0.502	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			9	45	1	0	3.07112e-06	1	3.55317e-06	9	45				
DNAH8	1769	broad.mit.edu	37	6	38881726	38881726	+	Missense_Mutation	SNP	G	G	A	rs200884766		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:38881726G>A	ENST00000359357.3	+	65	9564	c.9310G>A	c.(9310-9312)Gaa>Aaa	p.E3104K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E3068K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E3321K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3104	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAGCAGACGAAGTGAGTTT	0.368																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(9310-9312)Gaa>Aaa		dynein, axonemal, heavy chain 8							125.0	122.0	123.0					6																	38881726		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38881726G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9310G>A	6.37:g.38881726G>A	ENSP00000352312:p.Glu3104Lys					DNAH8_ENST00000449981.2_Missense_Mutation_p.E3321K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E3068K	p.E3104K							65	9564	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.9310G>A		.	.	.	.	.	.	.	.	.	.	G	9.637	1.137884	0.21123	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.80123	-1.34;-0.56;-0.56;-0.56	6.08	5.16	0.70880	Dynein heavy chain, coiled coil stalk (1);	0.100625	0.64402	D	0.000002	T	0.39253	0.1071	N	0.08118	0	0.49687	D	0.999811	B	0.11235	0.004	B	0.09377	0.004	T	0.43393	-0.9394	10	0.08837	T	0.75	.	6.7218	0.23334	0.1736:0.1499:0.6766:0.0	.	3104	Q96JB1	DYH8_HUMAN	K	3309;3309;3104;3068	ENSP00000415331:E3309K;ENSP00000333363:E3309K;ENSP00000352312:E3104K;ENSP00000402294:E3068K	ENSP00000333363:E3309K	E	+	1	0	DNAH8	38989704	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.666000	0.37460	2.894000	0.99253	0.655000	0.94253	GAA		0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		7	27	0	0	0	1	0	7	27				
OR2L8	391190	broad.mit.edu	37	1	248112881	248112881	+	Missense_Mutation	SNP	G	G	T	rs146257427		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248112881G>T	ENST00000357191.3	+	1	722	c.722G>T	c.(721-723)aGc>aTc	p.S241I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTGACCTGCAGCACCCACCTC	0.458																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(721-723)aGc>aTc		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							170.0	121.0	138.0					1																	248112881		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112881G>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.722G>T	1.37:g.248112881G>T	ENSP00000349719:p.Ser241Ile					OR2L13_ENST00000366478.2_Intron	p.S241I	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	722	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		241					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.722G>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	8.867	0.948418	0.18356	.	.	ENSG00000196936	ENST00000357191	T	0.37058	1.22	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.532259	0.14230	U	0.332827	T	0.56688	0.2002	M	0.85710	2.77	0.27277	N	0.958198	D	0.53885	0.963	P	0.62649	0.905	T	0.45789	-0.9237	10	0.87932	D	0	.	7.2997	0.26413	0.0:0.0:0.7381:0.2619	.	241	Q8NGY9	OR2L8_HUMAN	I	241	ENSP00000349719:S241I	ENSP00000349719:S241I	S	+	2	0	OR2L8	246179504	0.000000	0.05858	0.987000	0.45799	0.232000	0.25224	-1.714000	0.01881	1.010000	0.39314	0.485000	0.47835	AGC		0.458	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			33	79	1	0	1.03484e-13	1	1.49422e-13	33	79				
ZNF788	388507	broad.mit.edu	37	19	12221239	12221239	+	5'UTR	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:12221239C>A	ENST00000339302.4	+	0	328				ZNF788_ENST00000397759.3_5'Flank|ZNF788_ENST00000596883.1_Silent_p.A61A|ZNF788_ENST00000430298.2_Silent_p.A41A|ZNF20_ENST00000600335.1_Intron			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						GGAACTTGGCCTCTATAGGTA	0.443																																					Melanoma(116;440 1644 18510 25456 49479)	ENST00000430298.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(121-123)gcC>gcA		zinc finger family member 788																																				SO:0001623	5_prime_UTR_variant	388507							g.chr19:12221239C>A	AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.-310C>A	19.37:g.12221239C>A						ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000596883.1_Silent_p.A61A|ZNF788_ENST00000339302.4_5'UTR	p.A41A							2	328	+								Q6ZRE4	Silent	SNP	ENST00000339302.4	37	c.123C>A																																																																																					0.443	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_930581		5	13	1	0	0.000602214	1	0.00064528	5	13				
EPHA8	2046	broad.mit.edu	37	1	22925396	22925396	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:22925396G>T	ENST00000166244.3	+	13	2316	c.2244G>T	c.(2242-2244)atG>atT	p.M748I		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	748	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTGCCGGCATGCGCTACCTCT	0.622																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2242-2244)atG>atT		EPH receptor A8							69.0	59.0	62.0					1																	22925396		2201	4300	6501	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22925396G>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2244G>T	1.37:g.22925396G>T	ENSP00000166244:p.Met748Ile						p.M748I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	13	2316	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	748			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2244G>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762644	0.89932	.	.	ENSG00000070886	ENST00000166244	T	0.61859	0.07	4.21	4.21	0.49690	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.099117	0.64402	D	0.000003	T	0.66297	0.2775	M	0.74647	2.275	0.80722	D	1	D	0.58970	0.984	P	0.49752	0.621	T	0.74097	-0.3775	10	0.87932	D	0	.	15.6526	0.77110	0.0:0.0:1.0:0.0	.	748	P29322	EPHA8_HUMAN	I	748	ENSP00000166244:M748I	ENSP00000166244:M748I	M	+	3	0	EPHA8	22797983	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	9.601000	0.98297	2.340000	0.79590	0.555000	0.69702	ATG		0.622	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		4	23	1	0	2.56e-06	1	2.98069e-06	4	23				
RGS7BP	401190	broad.mit.edu	37	5	63871635	63871635	+	Silent	SNP	C	C	A	rs202031234		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:63871635C>A	ENST00000334025.2	+	3	693	c.367C>A	c.(367-369)Cgg>Agg	p.R123R	RNU6-294P_ENST00000364999.1_RNA|RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	123					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		AGAAATCTGTCGGCTTTACAT	0.433																																						ENST00000334025.2																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11						c.(367-369)Cgg>Agg		regulator of G-protein signaling 7 binding protein							99.0	95.0	96.0					5																	63871635		2203	4300	6503	SO:0001819	synonymous_variant	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63871635C>A	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.367C>A	5.37:g.63871635C>A						RGS7BP_ENST00000508162.1_3'UTR	p.R123R	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	3	693	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	123					B7Z3X1	Silent	SNP	ENST00000334025.2	37	c.367C>A	CCDS34170.1																																																																																				0.433	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		7	21	1	0	1	1	1	7	21				
TEKT5	146279	broad.mit.edu	37	16	10788335	10788335	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:10788335C>G	ENST00000283025.2	-	1	467	c.396G>C	c.(394-396)caG>caC	p.Q132H	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	132						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CCTCCTGCATCTGGTGCGTCA	0.637																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(394-396)caG>caC		tektin 5							91.0	97.0	95.0					16																	10788335		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788335C>G		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.396G>C	16.37:g.10788335C>G	ENSP00000283025:p.Gln132His						p.Q132H	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			1	467	-			132					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.396G>C	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	13.35	2.210417	0.39003	.	.	ENSG00000153060	ENST00000283025	T	0.02579	4.24	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000017	T	0.06325	0.0163	L	0.52364	1.645	0.44417	D	0.997333	B	0.26935	0.164	B	0.34301	0.179	T	0.26985	-1.0087	10	0.72032	D	0.01	-46.7087	18.0917	0.89477	0.0:1.0:0.0:0.0	.	132	Q96M29	TEKT5_HUMAN	H	132	ENSP00000283025:Q132H	ENSP00000283025:Q132H	Q	-	3	2	TEKT5	10695836	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	1.701000	0.37825	2.676000	0.91093	0.650000	0.86243	CAG		0.637	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		57	175	0	0	0	1	0	57	175				
NLRC4	58484	broad.mit.edu	37	2	32474837	32474837	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:32474837C>A	ENST00000404025.2	-	5	2584	c.2096G>T	c.(2095-2097)gGt>gTt	p.G699V	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.G699V|NLRC4_ENST00000360906.5_Missense_Mutation_p.G699V			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	699					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCAGCCACACCAGCACATCT	0.473																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2095-2097)gGt>gTt		NLR family, CARD domain containing 4							89.0	87.0	88.0					2																	32474837		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32474837C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2096G>T	2.37:g.32474837C>A	ENSP00000385090:p.Gly699Val					NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.G699V|NLRC4_ENST00000402280.1_Missense_Mutation_p.G699V	p.G699V			Q9NPP4	NLRC4_HUMAN			5	2584	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		699					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.2096G>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	7.265	0.606026	0.14002	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.11169	2.8;2.8;2.8	3.3	2.38	0.29361	.	0.183714	0.26582	N	0.023564	T	0.12178	0.0296	N	0.24115	0.695	0.29600	N	0.847769	D	0.59357	0.985	P	0.51806	0.68	T	0.20273	-1.0280	9	0.87932	D	0	-8.7926	11.7373	0.51773	0.0:0.8103:0.1897:0.0	.	699	Q9NPP4	NLRC4_HUMAN	V	699	ENSP00000354159:G699V;ENSP00000385428:G699V;ENSP00000385090:G699V	ENSP00000354159:G699V	G	-	2	0	NLRC4	32328341	0.552000	0.26505	0.012000	0.15200	0.075000	0.17131	2.615000	0.46368	0.919000	0.36945	0.543000	0.68304	GGT		0.473	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		29	82	1	0	2.4375e-19	1	3.89488e-19	29	82				
ALMS1	7840	broad.mit.edu	37	2	73716882	73716882	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:73716882G>T	ENST00000264448.6	+	10	7904	c.7793G>T	c.(7792-7794)aGa>aTa	p.R2598I	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.R2556I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2598					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R2598I(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAACTAGATAGACACCCTTGT	0.468																																						ENST00000264448.6																			1	Substitution - Missense(1)	p.R2598I(1)	large_intestine(1)	breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(7792-7794)aGa>aTa		Alstrom syndrome 1							92.0	89.0	90.0					2																	73716882		1941	4129	6070	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73716882G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7793G>T	2.37:g.73716882G>T	ENSP00000264448:p.Arg2598Ile					ALMS1_ENST00000409009.1_Missense_Mutation_p.R2556I	p.R2598I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	7904	+			2598					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.7793G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	4.632	0.117555	0.08881	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06371	3.31;3.31	4.45	0.611	0.17586	.	1.013620	0.07890	N	0.971091	T	0.04003	0.0112	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.43940	-0.9360	10	0.72032	D	0.01	.	3.7056	0.08400	0.3065:0.187:0.5065:0.0	.	2598;2556;2598	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	2556;2598	ENSP00000386627:R2556I;ENSP00000264448:R2598I	ENSP00000264448:R2598I	R	+	2	0	ALMS1	73570390	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.352000	0.20113	0.091000	0.17302	0.650000	0.86243	AGA		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		23	67	1	0	1.55795e-14	1	2.29671e-14	23	67				
ZNF185	7739	broad.mit.edu	37	X	152088889	152088889	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:152088889G>A	ENST00000370268.4	+	8	585	c.548G>A	c.(547-549)gGt>gAt	p.G183D	ZNF185_ENST00000318504.7_Missense_Mutation_p.G183D|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000535861.1_Missense_Mutation_p.G183D|ZNF185_ENST00000324823.6_Missense_Mutation_p.G48D|ZNF185_ENST00000370270.2_Missense_Mutation_p.G183D|ZNF185_ENST00000539731.1_Missense_Mutation_p.G183D|ZNF185_ENST00000449285.2_Missense_Mutation_p.G183D			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	183						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCAAGCGGTGTTCTGAGG	0.632																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(547-549)gGt>gAt		zinc finger protein 185 (LIM domain)							38.0	40.0	39.0					X																	152088889		2104	4192	6296	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152088889G>A	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.548G>A	X.37:g.152088889G>A	ENSP00000359291:p.Gly183Asp					ZNF185_ENST00000324823.6_Missense_Mutation_p.G48D|ZNF185_ENST00000370270.1_Missense_Mutation_p.G43D|ZNF185_ENST00000370268.4_Missense_Mutation_p.G183D|ZNF185_ENST00000449285.2_Missense_Mutation_p.G183D|ZNF185_ENST00000318504.7_Missense_Mutation_p.G183D|ZNF185_ENST00000539731.1_Missense_Mutation_p.G183D|ZNF185_ENST00000318529.8_Intron	p.G183D	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			8	596	+	Acute lymphoblastic leukemia(192;6.56e-05)		183					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.548G>A	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487333	0.26686	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000370270	T;T;T;T;T	0.47869	0.94;0.95;0.94;0.95;0.83	5.38	4.5	0.54988	.	.	.	.	.	T	0.33030	0.0849	L	0.29908	0.895	0.30520	N	0.768518	B;B;B;P;P;B	0.35684	0.128;0.128;0.008;0.515;0.515;0.063	B;B;B;B;B;B	0.29862	0.068;0.036;0.022;0.108;0.068;0.098	T	0.36286	-0.9754	9	0.56958	D	0.05	-3.1585	9.4956	0.38986	0.1055:0.0:0.8945:0.0	.	183;183;183;183;183;183	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231	.;.;.;.;.;ZN185_HUMAN	D	183;183;183;183;48;48;48;183;43	ENSP00000440847:G183D;ENSP00000444367:G183D;ENSP00000395228:G183D;ENSP00000312782:G183D;ENSP00000359291:G183D	ENSP00000312782:G183D	G	+	2	0	ZNF185	151839545	0.997000	0.39634	0.673000	0.29887	0.364000	0.29643	2.162000	0.42367	2.412000	0.81896	0.523000	0.50628	GGT		0.632	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		14	50	0	0	0	1	0	14	50				
HSPB3	8988	broad.mit.edu	37	5	53751987	53751987	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:53751987G>T	ENST00000302005.1	+	1	543	c.368G>T	c.(367-369)gGt>gTt	p.G123V		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	123					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				CTACCAGATGGTGTGGAAATC	0.458																																						ENST00000302005.1																			0				breast(1)|large_intestine(4)|prostate(3)	8						c.(367-369)gGt>gTt		heat shock 27kDa protein 3							122.0	116.0	118.0					5																	53751987		2203	4300	6503	SO:0001583	missense	8988				cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		g.chr5:53751987G>T	Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"""Heat shock proteins / HSPB"""	5248	protein-coding gene	gene with protein product		604624	"""heat shock 27kD protein 3"""			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.368G>T	5.37:g.53751987G>T	ENSP00000303394:p.Gly123Val						p.G123V	NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN			1	543	+		Lung NSC(810;0.00104)	123						Missense_Mutation	SNP	ENST00000302005.1	37	c.368G>T	CCDS3961.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420762	0.42918	.	.	ENSG00000169271	ENST00000302005	D	0.93488	-3.23	5.47	4.61	0.57282	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.207785	0.41938	D	0.000787	D	0.96898	0.8987	M	0.89095	3.005	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.97431	1.0015	10	0.87932	D	0	-8.0323	14.0871	0.64964	0.0725:0.0:0.9275:0.0	.	123	Q12988	HSPB3_HUMAN	V	123	ENSP00000303394:G123V	ENSP00000303394:G123V	G	+	2	0	HSPB3	53787744	1.000000	0.71417	0.478000	0.27316	0.027000	0.11550	4.716000	0.61916	1.302000	0.44855	0.561000	0.74099	GGT		0.458	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214074.2			25	101	1	0	7.88262e-20	1	1.26621e-19	25	101				
HHIP	64399	broad.mit.edu	37	4	145580839	145580839	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:145580839G>T	ENST00000296575.3	+	4	1335	c.680G>T	c.(679-681)cGg>cTg	p.R227L	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R227L|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGTGGGCTGCGGCAGCCCGTT	0.448																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(679-681)cGg>cTg		hedgehog interacting protein							125.0	137.0	133.0					4																	145580839		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580839G>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.680G>T	4.37:g.145580839G>T	ENSP00000296575:p.Arg227Leu					HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R227L	p.R227L	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1335	+	all_hematologic(180;0.151)		227					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.680G>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447928	0.84101	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.52526	2.77;0.66	5.54	4.7	0.59300	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.094804	0.64402	D	0.000001	T	0.60702	0.2289	L	0.57536	1.79	0.53688	D	0.999978	D;D	0.57571	0.98;0.98	P;P	0.58970	0.849;0.68	T	0.63857	-0.6542	10	0.59425	D	0.04	-12.2996	14.5635	0.68156	0.0706:0.0:0.9294:0.0	.	227;227	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	L	227	ENSP00000296575:R227L;ENSP00000408587:R227L	ENSP00000296575:R227L	R	+	2	0	HHIP	145800289	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.744000	0.74854	1.351000	0.45789	0.555000	0.69702	CGG		0.448	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			31	147	1	0	3.99451e-17	1	6.1881e-17	31	147				
PRPF3	9129	broad.mit.edu	37	1	150316708	150316708	+	Silent	SNP	C	C	T	rs557184419		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:150316708C>T	ENST00000324862.6	+	11	1662	c.1497C>T	c.(1495-1497)caC>caT	p.H499H	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Silent_p.H450H|PRPF3_ENST00000543398.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	499					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TAGAAGCCCACGTCAGAGCTC	0.473																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1495-1497)caC>caT		pre-mRNA processing factor 3							80.0	81.0	81.0					1																	150316708		2203	4300	6503	SO:0001819	synonymous_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150316708C>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1497C>T	1.37:g.150316708C>T						PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Silent_p.H450H	p.H499H	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	11	1662	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		499					B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	c.1497C>T	CCDS951.1																																																																																				0.473	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		6	42	0	0	0	1	0	6	42				
PAAF1	80227	broad.mit.edu	37	11	73620528	73620528	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:73620528G>A	ENST00000310571.3	+	7	670	c.617G>A	c.(616-618)gGg>gAg	p.G206E	PAAF1_ENST00000544552.1_Missense_Mutation_p.G189E|PAAF1_ENST00000544909.1_Missense_Mutation_p.G207E|PAAF1_ENST00000376384.5_Missense_Mutation_p.G189E|PAAF1_ENST00000541951.1_Missense_Mutation_p.G91E|PAAF1_ENST00000536003.1_Missense_Mutation_p.G189E|PAAF1_ENST00000535604.1_Missense_Mutation_p.G91E	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	206					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGGGATTGTGGGCGCTCAGCC	0.532																																						ENST00000544909.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(619-621)gGg>gAg		proteasomal ATPase-associated factor 1							201.0	170.0	180.0					11																	73620528		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73620528G>A	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.617G>A	11.37:g.73620528G>A	ENSP00000311665:p.Gly206Glu					PAAF1_ENST00000310571.3_Missense_Mutation_p.G206E|PAAF1_ENST00000541951.1_Missense_Mutation_p.G91E|PAAF1_ENST00000544552.1_Missense_Mutation_p.G189E|PAAF1_ENST00000536003.1_Missense_Mutation_p.G189E|PAAF1_ENST00000376384.5_Missense_Mutation_p.G189E|PAAF1_ENST00000535604.1_Missense_Mutation_p.G91E	p.G207E			Q9BRP4	PAAF1_HUMAN			5	877	+	Breast(11;7.42e-05)		206					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.620G>A	CCDS8226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.407459|4.407459	0.83230|0.83230	.|.	.|.	ENSG00000175575|ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000544909|ENST00000540659	T;T;T;T;T;T;T;T;T;T;T|.	0.80214|.	2.36;2.36;-1.35;-1.35;2.36;-1.35;2.36;2.36;2.31;2.36;2.36|.	5.06|5.06	5.06|5.06	0.68205|0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.73442|.	0.3587|.	M|M	0.68952|0.68952	2.095|2.095	0.47183|0.47183	D|D	0.99934|0.99934	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|.	0.73183|.	-0.4063|.	10|.	0.17832|.	T|.	0.49|.	-9.4551|-9.4551	16.9989|16.9989	0.86376|0.86376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	189;206|.	Q9BRP4-2;Q9BRP4|.	.;PAAF1_HUMAN|.	E|X	91;206;189;189;91;91;189;189;70;189;207|46	ENSP00000441333:G91E;ENSP00000311665:G206E;ENSP00000439747:G189E;ENSP00000438894:G189E;ENSP00000438789:G91E;ENSP00000439143:G91E;ENSP00000438124:G189E;ENSP00000441494:G189E;ENSP00000439877:G70E;ENSP00000365564:G189E;ENSP00000438071:G207E|.	ENSP00000311665:G206E|.	G|W	+|+	2|3	0|0	PAAF1|PAAF1	73298176|73298176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.830000|0.830000	0.47004|0.47004	6.707000|6.707000	0.74654|0.74654	2.373000|2.373000	0.80994|0.80994	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.532	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		25	50	0	0	0	1	0	25	50				
PPP6R1	22870	broad.mit.edu	37	19	55751267	55751267	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:55751267T>A	ENST00000412770.2	-	13	2056	c.1490A>T	c.(1489-1491)gAg>gTg	p.E497V	PPP6R1_ENST00000587283.1_Missense_Mutation_p.E497V	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	497					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CTCCTGCTGCTCGCTGGGCAG	0.642																																						ENST00000412770.2																			0				breast(1)	1						c.(1489-1491)gAg>gTg		protein phosphatase 6, regulatory subunit 1							40.0	46.0	44.0					19																	55751267		2014	4167	6181	SO:0001583	missense	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55751267T>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1490A>T	19.37:g.55751267T>A	ENSP00000414202:p.Glu497Val					PPP6R1_ENST00000587283.1_Missense_Mutation_p.E497V	p.E497V	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN			13	2056	-			497					Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	c.1490A>T	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.655952	0.67586	.	.	ENSG00000105063	ENST00000412770	T	0.49720	0.77	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000012	T	0.51193	0.1660	L	0.33339	1.005	0.46564	D	0.999106	P	0.46064	0.872	P	0.54664	0.758	T	0.50206	-0.8855	10	0.45353	T	0.12	-20.4323	13.9603	0.64175	0.0:0.0:0.0:1.0	.	497	Q9UPN7	PP6R1_HUMAN	V	497	ENSP00000414202:E497V	ENSP00000414202:E497V	E	-	2	0	PPP6R1	60443079	1.000000	0.71417	0.968000	0.41197	0.168000	0.22595	7.272000	0.78516	2.195000	0.70347	0.455000	0.32223	GAG		0.642	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		10	39	0	0	0	1	0	10	39				
CUBN	8029	broad.mit.edu	37	10	17142004	17142004	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:17142004C>A	ENST00000377833.4	-	14	1830	c.1765G>T	c.(1765-1767)Gag>Tag	p.E589*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	589					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACACATACCTGGTTGCTGT	0.373																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.e14+1		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						111.0	108.0	109.0					10																	17142004		2203	4300	6503	SO:0001630	splice_region_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17142004C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1765+1G>T	10.37:g.17142004C>A							p.E589_splice	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			14	1830	-			589					B0YIZ4|Q5VTA6|Q96RU9	Splice_Site	SNP	ENST00000377833.4	37	c.1765_splice	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	40	8.477698	0.98829	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.51	5.51	0.81932	.	0.000000	0.44688	D	0.000440	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4192	0.94713	0.0:1.0:0.0:0.0	.	.	.	.	X	589	.	.	E	-	1	0	CUBN	17182010	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.089000	0.76909	2.586000	0.87340	0.650000	0.86243	GAG		0.373	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	Nonsense_Mutation	24	71	1	0	1.03073e-24	1	1.68833e-24	24	71				
ONECUT1	3175	broad.mit.edu	37	15	53081360	53081360	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:53081360A>G	ENST00000305901.5	-	1	849	c.722T>C	c.(721-723)aTg>aCg	p.M241T	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	241					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GATGGGCACCATGCCGGCCGA	0.711																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(721-723)aTg>aCg		one cut homeobox 1							47.0	55.0	52.0					15																	53081360		2192	4292	6484	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081360A>G	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.722T>C	15.37:g.53081360A>G	ENSP00000302630:p.Met241Thr					ONECUT1_ENST00000561401.2_Intron	p.M241T	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	849	-			241					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.722T>C	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.708411	0.30322	.	.	ENSG00000169856	ENST00000305901	T	0.47528	0.84	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	M	0.65975	2.015	0.80722	D	1	P	0.50156	0.932	P	0.55391	0.775	T	0.53899	-0.8373	10	0.12103	T	0.63	-13.5468	13.1986	0.59754	1.0:0.0:0.0:0.0	.	241	Q9UBC0	HNF6_HUMAN	T	241	ENSP00000302630:M241T	ENSP00000302630:M241T	M	-	2	0	ONECUT1	50868652	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	8.976000	0.93442	1.973000	0.57446	0.496000	0.49642	ATG		0.711	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			36	106	0	0	0	1	0	36	106				
GPHN	10243	broad.mit.edu	37	14	67647535	67647535	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:67647535A>T	ENST00000315266.5	+	22	3213	c.2092A>T	c.(2092-2094)Agc>Tgc	p.S698C	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.S744C|GPHN_ENST00000478722.1_Missense_Mutation_p.S731C|GPHN_ENST00000305960.9_Missense_Mutation_p.S667C	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	698	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TCAAATGAGCAGCCGTCTGAT	0.453			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(2191-2193)Agc>Tgc		gephyrin							119.0	99.0	106.0					14																	67647535		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67647535A>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.2092A>T	14.37:g.67647535A>T	ENSP00000312771:p.Ser698Cys					GPHN_ENST00000315266.5_Missense_Mutation_p.S698C|GPHN_ENST00000305960.9_Missense_Mutation_p.S667C|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.S744C	p.S731C	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	23	3312	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	698			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.2191A>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	A	18.03	3.531572	0.64972	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960	.	.	.	5.83	5.83	0.93111	MoeA, C-terminal, domain IV (3);	0.084644	0.85682	D	0.000000	T	0.75737	0.3890	M	0.80183	2.485	0.80722	D	1	P;D;P;P	0.56287	0.828;0.975;0.946;0.944	P;P;P;B	0.54544	0.582;0.755;0.707;0.411	T	0.78373	-0.2229	9	0.51188	T	0.08	-7.0507	16.2066	0.82134	1.0:0.0:0.0:0.0	.	667;744;698;731	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	C	698;731;744;667	.	ENSP00000303019:S667C	S	+	1	0	GPHN	66717288	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.173000	0.94815	2.233000	0.73108	0.383000	0.25322	AGC		0.453	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		17	15	0	0	0	1	0	17	15				
NAV3	89795	broad.mit.edu	37	12	78444905	78444905	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:78444905A>G	ENST00000397909.2	+	11	2667	c.2494A>G	c.(2494-2496)Agg>Ggg	p.R832G	NAV3_ENST00000536525.2_Missense_Mutation_p.R832G|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.R832G|NAV3_ENST00000266692.7_Missense_Mutation_p.R832G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	832						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAAAGTCTCAGGACTGATGA	0.448										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(2494-2496)Agg>Ggg		neuron navigator 3							70.0	69.0	69.0					12																	78444905		2049	4212	6261	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78444905A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2494A>G	12.37:g.78444905A>G	ENSP00000381007:p.Arg832Gly	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.R832G|NAV3_ENST00000536525.2_Missense_Mutation_p.R832G|NAV3_ENST00000228327.6_Missense_Mutation_p.R832G	p.R832G			Q8IVL0	NAV3_HUMAN			11	2667	+			832					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2494A>G		.	.	.	.	.	.	.	.	.	.	A	18.48	3.633385	0.67015	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.31769	1.6;1.6;1.6;1.48	5.79	1.79	0.24919	.	0.000000	0.42172	U	0.000759	T	0.37571	0.1008	L	0.46157	1.445	0.80722	D	1	D;P;D	0.57899	0.981;0.828;0.976	P;B;P	0.51615	0.643;0.3;0.675	T	0.35425	-0.9789	10	0.72032	D	0.01	-23.9642	14.8028	0.69929	0.4566:0.5434:0.0:0.0	.	832;832;832	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	G	832	ENSP00000446132:R832G;ENSP00000381007:R832G;ENSP00000228327:R832G;ENSP00000266692:R832G	ENSP00000228327:R832G	R	+	1	2	NAV3	76969036	0.931000	0.31567	0.776000	0.31678	0.987000	0.75469	0.951000	0.29135	0.386000	0.24997	0.533000	0.62120	AGG		0.448	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		18	55	0	0	0	1	0	18	55				
TAAR9	134860	broad.mit.edu	37	6	132860136	132860136	+	RNA	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:132860136C>G	ENST00000434551.1	+	0	708					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GTACAGCCAGCCAAGCTCAGT	0.423																																					Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							75.0	73.0	74.0					6																	132860136		1902	4112	6014			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132860136C>G	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860136C>G								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	708	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.423	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		17	46	0	0	0	1	0	17	46				
PCDHGA11	56105	broad.mit.edu	37	5	140802640	140802640	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140802640G>C	ENST00000398587.2	+	1	1879	c.1846G>C	c.(1846-1848)Gga>Cga	p.G616R	PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G616R|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGAGCCGGGACTCTTCGC	0.652																																						ENST00000398587.2																			0				breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(1846-1848)Gga>Cga									47.0	56.0	53.0					5																	140802640		2202	4300	6502	SO:0001583	missense	56105							g.chr5:140802640G>C	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1846G>C	5.37:g.140802640G>C	ENSP00000381589:p.Gly616Arg					PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G616R|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	p.G616R	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1879	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1846G>C	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	8.324	0.824952	0.16678	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.52754	0.65;2.0	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	0.456265	0.12750	U	0.442237	T	0.54208	0.1844	L	0.43701	1.375	0.09310	N	1	P;D;P	0.58268	0.92;0.982;0.859	P;P;P	0.56563	0.742;0.763;0.801	T	0.48747	-0.9008	10	0.72032	D	0.01	.	10.0715	0.42337	0.0:0.1288:0.6129:0.2582	.	616;616;616	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	R	616	ENSP00000381589:G616R;ENSP00000428333:G616R	ENSP00000381589:G616R	G	+	1	0	PCDHGA11	140782824	0.000000	0.05858	0.309000	0.25155	0.029000	0.11900	0.869000	0.27996	2.524000	0.85096	0.561000	0.74099	GGA		0.652	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		38	88	0	0	0	1	0	38	88				
INTS1	26173	broad.mit.edu	37	7	1526596	1526596	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:1526596C>G	ENST00000404767.3	-	21	2873	c.2788G>C	c.(2788-2790)Gag>Cag	p.E930Q	INTS1_ENST00000389470.4_Missense_Mutation_p.E1073Q	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	930					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCTCGCCCTCGTCGTCCTCC	0.692																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(3217-3219)Gag>Cag		integrator complex subunit 1							50.0	54.0	53.0					7																	1526596		2168	4251	6419	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1526596C>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2788G>C	7.37:g.1526596C>G	ENSP00000385722:p.Glu930Gln					INTS1_ENST00000404767.3_Missense_Mutation_p.E930Q	p.E1073Q			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	22	3216	-		Ovarian(82;0.0253)	930					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.3217G>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104268	0.56291	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.44482	0.93;0.92	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	L	0.34521	1.04	0.80722	D	1	D;P	0.65815	0.995;0.933	P;P	0.52481	0.7;0.506	T	0.49143	-0.8970	10	0.54805	T	0.06	.	17.1549	0.86788	0.0:1.0:0.0:0.0	.	1079;930	A4D213;Q8N201	.;INT1_HUMAN	Q	930;1073	ENSP00000385722:E930Q;ENSP00000374121:E1073Q	ENSP00000374121:E1073Q	E	-	1	0	INTS1	1493122	1.000000	0.71417	0.991000	0.47740	0.011000	0.07611	7.258000	0.78371	2.041000	0.60428	0.650000	0.86243	GAG		0.692	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			4	15	0	0	0	1	0	4	15				
MCCD1	401250	broad.mit.edu	37	6	31497642	31497642	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:31497642T>C	ENST00000376191.2	+	2	588	c.290T>C	c.(289-291)cTg>cCg	p.L97P	DDX39B_ENST00000462421.1_5'Flank	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN	mitochondrial coiled-coil domain 1	97						mitochondrion (GO:0005739)				skin(1)	1						GCCCAAGCCCTGGTGCTCAAG	0.622																																						ENST00000376191.2																			0				skin(1)	1						c.(289-291)cTg>cCg		mitochondrial coiled-coil domain 1							20.0	14.0	16.0					6																	31497642		1508	2704	4212	SO:0001583	missense	401250					mitochondrion		g.chr6:31497642T>C		CCDS34396.1	6p21.3	2003-10-17				ENSG00000204511			20668	protein-coding gene	gene with protein product		609624				14527716	Standard	NM_001011700		Approved		uc003ntp.1	P59942		ENST00000376191.2:c.290T>C	6.37:g.31497642T>C	ENSP00000365362:p.Leu97Pro						p.L97P	NM_001011700.2	NP_001011700.2	P59942	MCCD1_HUMAN			2	588	+			97					A2AB29|A2RUP7|B0UZB2|Q7RTY2	Missense_Mutation	SNP	ENST00000376191.2	37	c.290T>C	CCDS34396.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871622	0.33069	.	.	ENSG00000204511	ENST00000376191	T	0.42131	0.98	4.66	3.46	0.39613	.	0.000000	0.38381	N	0.001701	T	0.35624	0.0938	L	0.29908	0.895	0.41954	D	0.990671	D	0.76494	0.999	D	0.76575	0.988	T	0.34625	-0.9821	10	0.87932	D	0	-10.6107	8.089	0.30790	0.0:0.0:0.2056:0.7944	.	97	P59942	MCCD1_HUMAN	P	97	ENSP00000365362:L97P	ENSP00000365362:L97P	L	+	2	0	MCCD1	31605621	1.000000	0.71417	0.970000	0.41538	0.111000	0.19643	1.883000	0.39658	0.782000	0.33613	0.459000	0.35465	CTG		0.622	MCCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259099.1			7	11	0	0	0	1	0	7	11				
ZCCHC17	51538	broad.mit.edu	37	1	31811836	31811836	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:31811836C>T	ENST00000373714.1	+	5	519	c.258C>T	c.(256-258)tcC>tcT	p.S86S	ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000344147.5_Silent_p.S86S|ZCCHC17_ENST00000422613.2_Silent_p.S62S|ZCCHC17_ENST00000546109.1_Silent_p.S78S|RP11-266K22.2_ENST00000430143.1_RNA	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	86	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TATCCCTCTCCATGAAGGTTG	0.348																																						ENST00000373714.1																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6						c.(256-258)tcC>tcT		zinc finger, CCHC domain containing 17							74.0	73.0	74.0					1																	31811836		2203	4300	6503	SO:0001819	synonymous_variant	51538					nucleolus	RNA binding|zinc ion binding	g.chr1:31811836C>T	AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"""Zinc fingers, CCHC domain containing"""	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.258C>T	1.37:g.31811836C>T						ZCCHC17_ENST00000546109.1_Silent_p.S78S|ZCCHC17_ENST00000344147.5_Silent_p.S86S|ZCCHC17_ENST00000479629.1_3'UTR|ZCCHC17_ENST00000422613.2_Silent_p.S62S|RP11-266K22.2_ENST00000430143.1_RNA	p.S86S			Q9NP64	NO40_HUMAN		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)	5	519	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)	86			S1 motif.		B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Silent	SNP	ENST00000373714.1	37	c.258C>T	CCDS341.1																																																																																				0.348	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1	NM_016505		6	26	0	0	0	1	0	6	26				
HSPH1	10808	broad.mit.edu	37	13	31711637	31711637	+	Missense_Mutation	SNP	C	C	A	rs140348808		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:31711637C>A	ENST00000320027.5	-	18	2739	c.2395G>T	c.(2395-2397)Gtt>Ttt	p.V799F	HSPH1_ENST00000380406.5_Missense_Mutation_p.V758F|HSPH1_ENST00000429785.2_Missense_Mutation_p.V618F|HSPH1_ENST00000445273.2_Missense_Mutation_p.V801F|HSPH1_ENST00000380405.4_Missense_Mutation_p.V755F	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	799					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGTGTTACAACGGGTTCACAT	0.348																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2395-2397)Gtt>Ttt		heat shock 105kDa/110kDa protein 1							133.0	127.0	129.0					13																	31711637		2202	4300	6502	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31711637C>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2395G>T	13.37:g.31711637C>A	ENSP00000318687:p.Val799Phe					HSPH1_ENST00000429785.2_Missense_Mutation_p.V618F|HSPH1_ENST00000380405.4_Missense_Mutation_p.V755F|HSPH1_ENST00000445273.2_Missense_Mutation_p.V801F|HSPH1_ENST00000380406.5_Missense_Mutation_p.V758F	p.V799F	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	18	2739	-		Lung SC(185;0.0257)	799					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.2395G>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711129	0.30322	.	.	ENSG00000120694	ENST00000435381;ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000380363;ENST00000429785	T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4	5.85	2.12	0.27331	.	0.145914	0.42420	D	0.000704	T	0.27419	0.0673	L	0.50333	1.59	0.09310	N	0.999998	D;P;P;D;P	0.54601	0.964;0.869;0.935;0.967;0.889	P;P;P;P;P	0.58820	0.706;0.846;0.619;0.785;0.614	T	0.03945	-1.0990	10	0.87932	D	0	-10.8805	9.0812	0.36554	0.0:0.5041:0.0:0.4958	.	618;758;801;755;799	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	F	63;799;755;758;801;85;618	ENSP00000408991:V63F;ENSP00000318687:V799F;ENSP00000369768:V755F;ENSP00000369769:V758F;ENSP00000396090:V801F;ENSP00000388778:V618F	ENSP00000318687:V799F	V	-	1	0	HSPH1	30609637	0.002000	0.14202	0.008000	0.14137	0.395000	0.30598	-0.087000	0.11215	0.360000	0.24265	-0.251000	0.11542	GTT		0.348	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			10	24	1	0	1.76689e-08	1	2.20922e-08	10	24				
ZBTB49	166793	broad.mit.edu	37	4	4322518	4322518	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:4322518G>C	ENST00000337872.4	+	8	1894	c.1773G>C	c.(1771-1773)gaG>gaC	p.E591D	RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000538529.1_Missense_Mutation_p.E74D|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E469D	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CTGGTGACGAGAGCCCAGATG	0.567																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1771-1773)gaG>gaC		zinc finger and BTB domain containing 49							64.0	58.0	60.0					4																	4322518		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322518G>C	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1773G>C	4.37:g.4322518G>C	ENSP00000338807:p.Glu591Asp					ZBTB49_ENST00000538529.1_Missense_Mutation_p.E74D|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E469D	p.E591D	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			8	1894	+			591					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1773G>C	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	8.944	0.966489	0.18659	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.14893	2.47;2.84;3.14	4.37	-8.74	0.00838	.	0.845064	0.09971	N	0.732222	T	0.11665	0.0284	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.14309	-1.0477	10	0.42905	T	0.14	.	6.3205	0.21215	0.2092:0.5071:0.138:0.1457	.	469;591	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	D	469;591;74	ENSP00000348091:E469D;ENSP00000338807:E591D;ENSP00000445653:E74D	ENSP00000338807:E591D	E	+	3	2	ZBTB49	4373419	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.010000	0.03656	-3.001000	0.00276	-0.519000	0.04390	GAG		0.567	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		17	37	0	0	0	1	0	17	37				
DVL3	1857	broad.mit.edu	37	3	183885461	183885461	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:183885461G>T	ENST00000313143.3	+	12	1540	c.1292G>T	c.(1291-1293)cGc>cTc	p.R431L	DVL3_ENST00000431765.1_Missense_Mutation_p.R414L|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	431	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.			R -> C (in Ref. 1; AAB47447). {ECO:0000305}.	canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GTCCGTGACCGCATGTGGCTC	0.597																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1291-1293)cGc>cTc		dishevelled segment polarity protein 3							101.0	84.0	90.0					3																	183885461		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183885461G>T	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1292G>T	3.37:g.183885461G>T	ENSP00000316054:p.Arg431Leu					EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.R414L	p.R431L	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		12	1540	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		431	R -> C (in Ref. 1; AAB47447).		DEP.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1292G>T	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081143	0.94050	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.27557	1.66;1.66	5.97	5.97	0.96955	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	H	0.95004	3.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.77341	-0.2624	10	0.87932	D	0	-19.9776	20.4387	0.99107	0.0:0.0:1.0:0.0	.	414;263;431;431	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	L	431;431;414	ENSP00000316054:R431L;ENSP00000405885:R414L	ENSP00000316054:R431L	R	+	2	0	DVL3	185368155	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	CGC		0.597	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		8	58	1	0	0.0381472	1	0.0386547	8	58				
CD5L	922	broad.mit.edu	37	1	157805734	157805734	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:157805734G>T	ENST00000368174.4	-	3	363	c.267C>A	c.(265-267)gtC>gtA	p.V89V	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	89	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATTGGATGAGGACCTTTTGCT	0.498																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(265-267)gtC>gtA		CD5 molecule-like							245.0	251.0	249.0					1																	157805734		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805734G>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.267C>A	1.37:g.157805734G>T							p.V89V	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	363	-	all_hematologic(112;0.0378)		89			SRCR 1.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.267C>A	CCDS1171.1																																																																																				0.498	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		47	223	1	0	4.25531e-23	1	6.9577e-23	47	223				
OR9I1	219954	broad.mit.edu	37	11	57886290	57886290	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:57886290G>T	ENST00000302610.1	-	1	626	c.627C>A	c.(625-627)gcC>gcA	p.A209A	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				CGGAGGCATTGGCCAAAATCA	0.473																																						ENST00000302610.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(625-627)gcC>gcA		olfactory receptor, family 9, subfamily I, member 1							106.0	94.0	98.0					11																	57886290		2201	4296	6497	SO:0001819	synonymous_variant	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886290G>T	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.627C>A	11.37:g.57886290G>T						OR9Q1_ENST00000335397.3_Intron	p.A209A	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN			1	626	-		Breast(21;0.0589)	209					Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	37	c.627C>A	CCDS31542.1																																																																																				0.473	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		13	36	1	0	2.68362e-12	1	3.73338e-12	13	36				
ABCC9	10060	broad.mit.edu	37	12	22068766	22068766	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22068766G>T	ENST00000261201.4	-	5	651	c.652C>A	c.(652-654)Cca>Aca	p.P218T	ABCC9_ENST00000261200.4_Missense_Mutation_p.P218T|ABCC9_ENST00000345162.2_Missense_Mutation_p.P218T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	218					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTCACAAATGGTTGAAGAAAT	0.378																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(652-654)Cca>Aca		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						90.0	86.0	87.0					12																	22068766		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22068766G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.652C>A	12.37:g.22068766G>T	ENSP00000261201:p.Pro218Thr					ABCC9_ENST00000345162.2_Missense_Mutation_p.P218T|ABCC9_ENST00000261201.4_Missense_Mutation_p.P218T	p.P218T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			5	651	-			218					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.652C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327155	0.81690	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.92149	-2.97;-2.98;-2.96	5.01	5.01	0.66863	.	0.103264	0.64402	D	0.000002	D	0.95903	0.8666	M	0.82923	2.615	0.80722	D	1	D;D	0.71674	0.998;0.974	D;P	0.65684	0.937;0.57	D	0.94949	0.8098	10	0.35671	T	0.21	-15.5043	18.5103	0.90914	0.0:0.0:1.0:0.0	.	218;218	O60706;O60706-2	ABCC9_HUMAN;.	T	218	ENSP00000261200:P218T;ENSP00000261201:P218T;ENSP00000261202:P218T	ENSP00000261200:P218T	P	-	1	0	ABCC9	21960033	1.000000	0.71417	0.744000	0.31058	0.990000	0.78478	7.750000	0.85110	2.605000	0.88082	0.650000	0.86243	CCA		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		14	35	1	0	2.32078e-09	1	2.97921e-09	14	35				
IPO8	10526	broad.mit.edu	37	12	30802157	30802157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:30802157C>A	ENST00000256079.4	-	20	2520	c.2182G>T	c.(2182-2184)Gga>Tga	p.G728*	IPO8_ENST00000544829.1_Nonsense_Mutation_p.G523*	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	728					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTGCATCTCCACATAGTACC	0.418																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(2182-2184)Gga>Tga		importin 8							217.0	181.0	193.0					12																	30802157		2203	4300	6503	SO:0001587	stop_gained	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30802157C>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2182G>T	12.37:g.30802157C>A	ENSP00000256079:p.Gly728*					IPO8_ENST00000544829.1_Nonsense_Mutation_p.G523*	p.G728*	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			20	2520	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		728					B7Z7M3	Nonsense_Mutation	SNP	ENST00000256079.4	37	c.2182G>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	42	9.777990	0.99261	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	.	.	.	5.06	5.06	0.68205	.	0.338862	0.32401	N	0.006156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-21.5741	18.7554	0.91830	0.0:1.0:0.0:0.0	.	.	.	.	X	728;204;523	.	ENSP00000256079:G728X	G	-	1	0	IPO8	30693424	0.974000	0.33945	0.980000	0.43619	0.876000	0.50452	1.467000	0.35321	2.491000	0.84063	0.591000	0.81541	GGA		0.418	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		17	49	1	0	1.67942e-08	1	2.11431e-08	17	49				
UNC5CL	222643	broad.mit.edu	37	6	41001649	41001649	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:41001649A>C	ENST00000373164.1	-	2	717	c.657T>G	c.(655-657)gaT>gaG	p.D219E	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.D219E			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	219	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCGACACTCATCCCGGGAGG	0.627																																						ENST00000244565.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(655-657)gaT>gaG		unc-5 homolog C (C. elegans)-like							35.0	34.0	34.0					6																	41001649		2203	4299	6502	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41001649A>C	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.657T>G	6.37:g.41001649A>C	ENSP00000362258:p.Asp219Glu					UNC5CL_ENST00000373164.1_Missense_Mutation_p.D219E	p.D219E	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN			3	745	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		219			Interaction with RELA and NFKB1.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.657T>G	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.684165	0.29872	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16324	2.35;2.35	4.78	-5.54	0.02544	.	0.000000	0.50627	D	0.000110	T	0.02304	0.0071	N	0.17082	0.46	0.80722	D	1	B	0.30824	0.296	B	0.28991	0.097	T	0.23440	-1.0188	10	0.08599	T	0.76	-20.7026	13.4284	0.61039	0.3466:0.0:0.6534:0.0	.	219	Q8IV45	UN5CL_HUMAN	E	219	ENSP00000244565:D219E;ENSP00000362258:D219E	ENSP00000244565:D219E	D	-	3	2	UNC5CL	41109627	0.000000	0.05858	0.881000	0.34555	0.225000	0.24961	-3.320000	0.00513	-1.350000	0.02199	-0.250000	0.11733	GAT		0.627	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561		11	32	0	0	0	1	0	11	32				
ATG2B	55102	broad.mit.edu	37	14	96784149	96784149	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:96784149G>T	ENST00000359933.4	-	19	3816	c.2923C>A	c.(2923-2925)Cca>Aca	p.P975T		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	975					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTCTCCACTGGTGAAGGAGCT	0.368																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(2923-2925)Cca>Aca		autophagy related 2B							97.0	93.0	94.0					14																	96784149		1846	4102	5948	SO:0001583	missense	55102							g.chr14:96784149G>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2923C>A	14.37:g.96784149G>T	ENSP00000353010:p.Pro975Thr						p.P975T	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	19	3816	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	975					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.2923C>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989617	0.93106	.	.	ENSG00000066739	ENST00000359933	T	0.40225	1.04	5.54	5.54	0.83059	.	0.000000	0.64402	U	0.000002	T	0.66577	0.2803	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67852	-0.5563	10	0.72032	D	0.01	.	19.8585	0.96775	0.0:0.0:1.0:0.0	.	975	Q96BY7	ATG2B_HUMAN	T	975	ENSP00000353010:P975T	ENSP00000353010:P975T	P	-	1	0	ATG2B	95853902	1.000000	0.71417	0.975000	0.42487	0.975000	0.68041	9.453000	0.97619	2.760000	0.94817	0.655000	0.94253	CCA		0.368	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		53	65	1	0	2.23044e-30	1	3.70658e-30	53	65				
OR51B6	390058	broad.mit.edu	37	11	5372757	5372757	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:5372757C>T	ENST00000380219.1	+	1	20	c.20C>T	c.(19-21)gCt>gTt	p.A7V	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	7					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATAAGTCTGCTTCCACCTTC	0.433																																						ENST00000380219.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(19-21)gCt>gTt		olfactory receptor, family 51, subfamily B, member 6							82.0	70.0	74.0					11																	5372757		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5372757C>T		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.20C>T	11.37:g.5372757C>T	ENSP00000369568:p.Ala7Val					HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	p.A7V	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	20	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	7						Missense_Mutation	SNP	ENST00000380219.1	37	c.20C>T	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511743	0.27036	.	.	ENSG00000176239	ENST00000380219	T	0.00321	8.11	4.63	0.44	0.16572	.	0.945388	0.08751	N	0.899131	T	0.00144	0.0004	N	0.20483	0.58	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.18999	-1.0319	10	0.48119	T	0.1	.	4.3785	0.11283	0.3125:0.5148:0.0:0.1726	.	7	Q9H340	O51B6_HUMAN	V	7	ENSP00000369568:A7V	ENSP00000369568:A7V	A	+	2	0	OR51B6	5329333	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	0.744000	0.26245	0.002000	0.14630	-0.321000	0.08615	GCT		0.433	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		6	16	0	0	0	1	0	6	16				
SEMA6B	10501	broad.mit.edu	37	19	4548115	4548115	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:4548115C>T	ENST00000586582.1	-	14	1835	c.1525G>A	c.(1525-1527)Ggc>Agc	p.G509S	SEMA6B_ENST00000586965.1_Missense_Mutation_p.G509S|RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G509S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	509	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGGCCCCCCGAAGCT	0.692																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1525-1527)Ggc>Agc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							16.0	17.0	17.0					19																	4548115		2197	4290	6487	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4548115C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1525G>A	19.37:g.4548115C>T	ENSP00000467290:p.Gly509Ser					SEMA6B_ENST00000586965.1_Missense_Mutation_p.G509S|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G509S	p.G509S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1835	-		Hepatocellular(1079;0.137)	509			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1525G>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	4.837	0.155673	0.09236	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.20463	2.07	3.58	2.53	0.30540	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.604497	0.16194	N	0.225230	T	0.02727	0.0082	N	0.00035	-2.55	0.23802	N	0.99681	B	0.17038	0.02	B	0.15484	0.013	T	0.39663	-0.9603	10	0.13853	T	0.58	.	4.298	0.10911	0.2237:0.6547:0.0:0.1217	.	509	Q9H3T3	SEM6B_HUMAN	S	509	ENSP00000301293:G509S	ENSP00000301292:G509S	G	-	1	0	SEMA6B	4499115	0.021000	0.18746	0.761000	0.31378	0.884000	0.51177	0.205000	0.17356	0.719000	0.32188	0.485000	0.47835	GGC		0.692	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		7	14	0	0	0	1	0	7	14				
ZNF585A	199704	broad.mit.edu	37	19	37646793	37646793	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:37646793C>A	ENST00000356958.4	-	4	524	c.266G>T	c.(265-267)gGt>gTt	p.G89V	ZNF585A_ENST00000392157.2_Missense_Mutation_p.G34V|ZNF585A_ENST00000355533.2_Missense_Mutation_p.G34V|ZNF585A_ENST00000292841.5_Missense_Mutation_p.G34V|ZNF585A_ENST00000588723.1_5'UTR			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	89	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGCCTCTCACCCTGCAGTGC	0.522																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(265-267)gGt>gTt		zinc finger protein 585A							166.0	132.0	144.0					19																	37646793		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37646793C>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.266G>T	19.37:g.37646793C>A	ENSP00000349440:p.Gly89Val					ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000292841.5_Missense_Mutation_p.G34V|ZNF585A_ENST00000392157.2_Missense_Mutation_p.G34V|ZNF585A_ENST00000355533.2_Missense_Mutation_p.G34V	p.G89V			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	524	-			89			KRAB.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.266G>T		.	.	.	.	.	.	.	.	.	.	C	10.88	1.474422	0.26423	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.07908	3.18;3.25;3.25;3.15	3.68	0.184	0.15086	Krueppel-associated box (1);	1.153490	0.06665	N	0.765190	T	0.05960	0.0155	L	0.38649	1.16	0.09310	N	0.999997	B	0.25955	0.138	B	0.18561	0.022	T	0.43245	-0.9403	10	0.30078	T	0.28	.	1.6074	0.02687	0.2153:0.4468:0.2102:0.1277	.	89	Q6P3V2	Z585A_HUMAN	V	89;34;34;34	ENSP00000349440:G89V;ENSP00000292841:G34V;ENSP00000375998:G34V;ENSP00000347724:G34V	ENSP00000292841:G34V	G	-	2	0	ZNF585A	42338633	0.000000	0.05858	0.898000	0.35279	0.325000	0.28411	-1.236000	0.02925	0.734000	0.32515	0.655000	0.94253	GGT		0.522	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		16	40	1	0	6.44725e-10	1	8.38234e-10	16	40				
NRD1	4898	broad.mit.edu	37	1	52344242	52344242	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:52344242T>G	ENST00000354831.7	-	1	235	c.46A>C	c.(46-48)Aag>Cag	p.K16Q	NRD1_ENST00000539524.1_5'Flank|NRD1_ENST00000352171.7_Missense_Mutation_p.K16Q|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	16					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCACACAACTTCCTCCGGGTG	0.637																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(46-48)Aag>Cag		nardilysin (N-arginine dibasic convertase)							27.0	26.0	26.0					1																	52344242		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52344242T>G	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.46A>C	1.37:g.52344242T>G	ENSP00000346890:p.Lys16Gln					NRD1_ENST00000544028.1_Intron|NRD1_ENST00000352171.7_Missense_Mutation_p.K16Q	p.K16Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			1	235	-			16					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.46A>C	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856679	0.71834	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000546169	T;T	0.45276	1.16;0.9	5.07	5.07	0.68467	.	0.507356	0.18070	N	0.152673	T	0.28732	0.0712	N	0.22421	0.69	0.80722	D	1	P;P;P	0.38167	0.621;0.487;0.487	B;B;B	0.34385	0.181;0.088;0.18	T	0.13791	-1.0496	10	0.59425	D	0.04	-15.6574	11.1937	0.48700	0.0:0.0:0.0:1.0	.	16;16;16	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	Q	16	ENSP00000262679:K16Q;ENSP00000346890:K16Q	ENSP00000262679:K16Q	K	-	1	0	NRD1	52116830	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.519000	0.35888	2.127000	0.65507	0.529000	0.55759	AAG		0.637	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		7	17	0	0	0	1	0	7	17				
FUBP1	8880	broad.mit.edu	37	1	78414934	78414934	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:78414934T>C	ENST00000370768.2	-	19	1913	c.1832A>G	c.(1831-1833)tAt>tGt	p.Y611C	FUBP1_ENST00000370767.1_Missense_Mutation_p.Y611C|FUBP1_ENST00000489495.1_5'Flank|FUBP1_ENST00000436586.2_Missense_Mutation_p.Y632C	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	611					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGCTGCACTATAATCTGGCTG	0.493			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1831-1833)tAt>tGt		far upstream element (FUSE) binding protein 1							83.0	86.0	85.0					1																	78414934		2203	4300	6503	SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78414934T>C	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1832A>G	1.37:g.78414934T>C	ENSP00000359804:p.Tyr611Cys					FUBP1_ENST00000370768.2_Missense_Mutation_p.Y611C|FUBP1_ENST00000436586.2_Missense_Mutation_p.Y632C	p.Y611C			Q96AE4	FUBP1_HUMAN			19	1919	-			611					Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.1832A>G	CCDS683.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116587	0.56505	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.56941	0.43;0.45;0.52	5.94	5.94	0.96194	Domain of unknown function DUF1897 (1);	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.71600	-0.4544	10	0.87932	D	0	-7.5877	16.3862	0.83505	0.0:0.0:0.0:1.0	.	632;611	B4DT31;Q96AE4	.;FUBP1_HUMAN	C	611;611;611;596;632	ENSP00000359803:Y611C;ENSP00000359804:Y611C;ENSP00000389536:Y632C	ENSP00000294623:Y610C	Y	-	2	0	FUBP1	78187522	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.698000	0.84413	2.261000	0.74972	0.533000	0.62120	TAT		0.493	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		29	58	0	0	0	1	0	29	58				
ANGPT4	51378	broad.mit.edu	37	20	896737	896737	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:896737C>A	ENST00000381922.3	-	1	223	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C	ANGPT4_ENST00000546022.1_Missense_Mutation_p.G41C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	41					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.G41S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTACAGTGGCCGTGCTGGACT	0.617																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			1	Substitution - Missense(1)	p.G41S(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(121-123)Ggc>Tgc		angiopoietin 4							111.0	105.0	107.0					20																	896737		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:896737C>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.121G>T	20.37:g.896737C>A	ENSP00000371347:p.Gly41Cys					ANGPT4_ENST00000546022.1_Missense_Mutation_p.G41C	p.G41C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			1	223	-			41					B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.121G>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825746	0.50739	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.15603	2.41;2.41	4.57	3.6	0.41247	.	0.147724	0.31358	N	0.007782	T	0.39145	0.1067	M	0.74647	2.275	0.48762	D	0.999706	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.24012	-1.0172	10	0.87932	D	0	.	10.3511	0.43937	0.0:0.8005:0.1994:0.0	.	41;41	B4E3J9;Q9Y264	.;ANGP4_HUMAN	C	41	ENSP00000371347:G41C;ENSP00000439605:G41C	ENSP00000371347:G41C	G	-	1	0	ANGPT4	844737	1.000000	0.71417	0.865000	0.33974	0.457000	0.32468	5.906000	0.69900	1.114000	0.41781	0.305000	0.20034	GGC		0.617	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		31	93	1	0	1.36615e-20	1	2.21393e-20	31	93				
PPP2R2B	5521	broad.mit.edu	37	5	146017861	146017861	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:146017861C>A	ENST00000394413.3	-	6	1313	c.743G>T	c.(742-744)cGg>cTg	p.R248L	PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R314L|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R237L|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R248L|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R248L|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R306L|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R248L|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R251L|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R254L|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R237L|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	248					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCACACAGCCGGATTGTCCC	0.587																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(742-744)cGg>cTg		protein phosphatase 2, regulatory subunit B, beta							146.0	109.0	121.0					5																	146017861		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146017861C>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.743G>T	5.37:g.146017861C>A	ENSP00000377935:p.Arg248Leu					PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R314L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R251L|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R237L|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R248L|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R248L|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R248L|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R254L|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R306L|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R237L	p.R248L			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1313	-			248					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.743G>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247641	0.95305	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65015	0.2651	M	0.93420	3.415	0.80722	D	1	D;D;D;D;D;D	0.60575	0.958;0.965;0.965;0.988;0.987;0.965	P;P;P;P;P;P	0.61003	0.672;0.585;0.585;0.772;0.882;0.585	T	0.75714	-0.3221	10	0.87932	D	0	-13.1965	19.2061	0.93730	0.0:1.0:0.0:0.0	.	306;254;237;314;251;248	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	L	248;237;314;248;248;248;237;251;254;306	ENSP00000377935:R248L;ENSP00000431320:R237L;ENSP00000377936:R314L;ENSP00000377933:R248L;ENSP00000349283:R248L;ENSP00000398779:R248L;ENSP00000377932:R237L;ENSP00000336591:R251L;ENSP00000421396:R254L;ENSP00000377931:R306L	ENSP00000336591:R251L	R	-	2	0	AC011357.1	145998054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.377000	0.79668	2.536000	0.85505	0.650000	0.86243	CGG		0.587	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		7	60	1	0	0.000157383	1	0.000171862	7	60				
TPH2	121278	broad.mit.edu	37	12	72372829	72372829	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:72372829C>T	ENST00000333850.3	+	7	1044	c.903C>T	c.(901-903)taC>taT	p.Y301Y		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	301					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTACCCAGTACATCCGGCATG	0.542																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(901-903)taC>taT		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						146.0	142.0	143.0					12																	72372829		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72372829C>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.903C>T	12.37:g.72372829C>T							p.Y301Y	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			7	1044	+			301					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.903C>T	CCDS31859.1																																																																																				0.542	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		42	139	0	0	0	1	0	42	139				
FAM9B	171483	broad.mit.edu	37	X	9001122	9001122	+	Intron	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:9001122G>T	ENST00000327220.5	-	2	276				FAM9B_ENST00000428477.1_5'Flank|FAM9B_ENST00000362066.3_Nonsense_Mutation_p.S14*			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B							nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				CGAACCTGGTGAGCGCAAAGA	0.592																																						ENST00000362066.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(40-42)tCa>tAa		family with sequence similarity 9, member B																																				SO:0001627	intron_variant	171483					nucleus		g.chrX:9001122G>T		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.89-6C>A	X.37:g.9001122G>T						FAM9B_ENST00000327220.5_Intron	p.S14*			Q8IZU0	FAM9B_HUMAN			1	229	-		Hepatocellular(5;0.219)	0					Q0IJ68|Q8N7Z8	Nonsense_Mutation	SNP	ENST00000327220.5	37	c.41C>A	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557905	0.65425	.	.	ENSG00000177138	ENST00000362066	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	14	.	ENSP00000354770:S14X	S	-	2	0	FAM9B	8961122	0.006000	0.16342	0.004000	0.12327	0.004000	0.04260	0.347000	0.20014	0.288000	0.22398	0.292000	0.19580	TCA		0.592	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		6	15	1	0	0.00116845	1	0.00124037	6	15				
TMEM132D	121256	broad.mit.edu	37	12	129694087	129694087	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:129694087G>C	ENST00000422113.2	-	5	1747	c.1421C>G	c.(1420-1422)tCg>tGg	p.S474W	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	474					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCATCAGACGATCTACACTC	0.592																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1420-1422)tCg>tGg		transmembrane protein 132D							111.0	90.0	97.0					12																	129694087		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129694087G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1421C>G	12.37:g.129694087G>C	ENSP00000408581:p.Ser474Trp					RP11-669N7.3_ENST00000542578.1_lincRNA	p.S474W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	5	1747	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	474					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1421C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703831	0.48412	.	.	ENSG00000151952	ENST00000422113	T	0.23348	1.91	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000019	T	0.59088	0.2168	M	0.87971	2.92	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.64571	-0.6376	9	.	.	.	-13.0653	19.2091	0.93747	0.0:0.0:1.0:0.0	.	474	Q14C87	T132D_HUMAN	W	474	ENSP00000408581:S474W	.	S	-	2	0	TMEM132D	128260040	1.000000	0.71417	0.052000	0.19188	0.199000	0.23934	7.357000	0.79456	2.504000	0.84457	0.655000	0.94253	TCG		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		10	35	0	0	0	1	0	10	35				
DYSF	8291	broad.mit.edu	37	2	71801373	71801373	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:71801373C>G	ENST00000258104.3	+	30	3497	c.3220C>G	c.(3220-3222)Ctt>Gtt	p.L1074V	DYSF_ENST00000413539.2_Missense_Mutation_p.L1105V|DYSF_ENST00000409744.1_Missense_Mutation_p.L1061V|DYSF_ENST00000409582.3_Missense_Mutation_p.L1091V|DYSF_ENST00000409651.1_Missense_Mutation_p.L1106V|DYSF_ENST00000394120.2_Missense_Mutation_p.L1075V|DYSF_ENST00000429174.2_Missense_Mutation_p.L1074V|DYSF_ENST00000410020.3_Missense_Mutation_p.L1092V|DYSF_ENST00000410041.1_Missense_Mutation_p.L1092V|DYSF_ENST00000409762.1_Missense_Mutation_p.L1091V|DYSF_ENST00000409366.1_Missense_Mutation_p.L1075V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1074	Arg-rich.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTACGCCTCTCTTTTTGGCTG	0.667																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3220-3222)Ctt>Gtt		dysferlin							69.0	82.0	78.0					2																	71801373		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71801373C>G	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3220C>G	2.37:g.71801373C>G	ENSP00000258104:p.Leu1074Val					DYSF_ENST00000394120.2_Missense_Mutation_p.L1075V|DYSF_ENST00000409744.1_Missense_Mutation_p.L1061V|DYSF_ENST00000413539.2_Missense_Mutation_p.L1105V|DYSF_ENST00000429174.2_Missense_Mutation_p.L1074V|DYSF_ENST00000410020.3_Missense_Mutation_p.L1092V|DYSF_ENST00000410041.1_Missense_Mutation_p.L1092V|DYSF_ENST00000409762.1_Missense_Mutation_p.L1091V|DYSF_ENST00000409651.1_Missense_Mutation_p.L1106V|DYSF_ENST00000409366.1_Missense_Mutation_p.L1075V|DYSF_ENST00000409582.3_Missense_Mutation_p.L1091V	p.L1074V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			30	3497	+			1074			Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.3220C>G	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456026	0.63401	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.69;-1.7;-1.7;-1.69;-1.7;-1.7;-1.69;-1.69;-1.7	5.6	4.72	0.59763	Ferlin/Peroxisome membrane (1);	0.146298	0.45361	D	0.000378	D	0.87489	0.6190	L	0.49350	1.555	0.31185	N	0.701639	D;D;D;D;D;D;D;P;D;P;P;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.994;0.969;0.994;0.562;0.999;0.729;0.569;0.999;0.999;0.998	D;D;D;D;D;P;D;B;D;B;P;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.919;0.801;0.919;0.32;0.999;0.32;0.45;0.98;0.999;0.997	D	0.86272	0.1662	10	0.41790	T	0.15	-32.98	12.2041	0.54342	0.0:0.917:0.0:0.083	.	1106;1092;1075;1061;1092;1061;1091;1060;1105;1091;1074;1060;1075;1074	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	1105;1091;1091;1074;1074;1106;1075;1061;1075;1092;1092	ENSP00000407046:L1105V;ENSP00000387137:L1091V;ENSP00000386547:L1091V;ENSP00000398305:L1074V;ENSP00000258104:L1074V;ENSP00000386683:L1106V;ENSP00000377678:L1075V;ENSP00000386285:L1061V;ENSP00000386512:L1075V;ENSP00000386881:L1092V;ENSP00000386617:L1092V	ENSP00000258104:L1074V	L	+	1	0	DYSF	71654881	0.993000	0.37304	0.874000	0.34290	0.970000	0.65996	3.034000	0.49751	1.353000	0.45828	0.650000	0.86243	CTT		0.667	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		39	142	0	0	0	1	0	39	142				
HCN1	348980	broad.mit.edu	37	5	45695847	45695847	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:45695847G>C	ENST00000303230.4	-	1	406	c.349C>G	c.(349-351)Cag>Gag	p.Q117E		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	117	Involved in subunit assembly. {ECO:0000250}.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCTTCTGGCTCCCAAAC	0.607																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(349-351)Cag>Gag		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							36.0	38.0	37.0					5																	45695847		2197	4291	6488	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695847G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.349C>G	5.37:g.45695847G>C	ENSP00000307342:p.Gln117Glu						p.Q117E	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			1	406	-			117			Involved in subunit assembly (By similarity).			Missense_Mutation	SNP	ENST00000303230.4	37	c.349C>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	7.008	0.556142	0.13436	.	.	ENSG00000164588	ENST00000303230	T	0.76448	-1.02	4.18	4.18	0.49190	Ion transport N-terminal (1);	0.148471	0.28883	N	0.013827	T	0.69070	0.3070	L	0.34521	1.04	0.53688	D	0.999979	B	0.14012	0.009	B	0.20577	0.03	T	0.64786	-0.6325	10	0.29301	T	0.29	.	16.2753	0.82642	0.0:0.0:1.0:0.0	.	117	O60741	HCN1_HUMAN	E	117	ENSP00000307342:Q117E	ENSP00000307342:Q117E	Q	-	1	0	HCN1	45731604	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	7.107000	0.77047	2.137000	0.66172	0.555000	0.69702	CAG		0.607	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		14	34	0	0	0	1	0	14	34				
TG	7038	broad.mit.edu	37	8	134146974	134146974	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:134146974G>C	ENST00000220616.4	+	48	8283	c.8243G>C	c.(8242-8244)gGa>gCa	p.G2748A	TG_ENST00000377869.1_Missense_Mutation_p.G2691A|TG_ENST00000542445.1_Missense_Mutation_p.G1118A|TG_ENST00000519543.1_Missense_Mutation_p.G881A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2748					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGACGGCTGGATCTGGGCTA	0.562																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(8242-8244)gGa>gCa		thyroglobulin							114.0	98.0	103.0					8																	134146974		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134146974G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8243G>C	8.37:g.134146974G>C	ENSP00000220616:p.Gly2748Ala					TG_ENST00000519543.1_Missense_Mutation_p.G881A|TG_ENST00000542445.1_Missense_Mutation_p.G1118A|TG_ENST00000377869.1_Missense_Mutation_p.G2691A	p.G2748A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	48	8283	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2748					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.8243G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.47|10.47	1.358218|1.358218	0.24598|0.24598	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107|ENST00000519178	T;T;T;T;T|.	0.66995|.	-0.03;-0.05;-0.24;-0.22;0.89|.	3.83|3.83	-1.71|-1.71	0.08133|0.08133	.|.	3.141150|.	0.00757|.	N|.	0.001112|.	T|T	0.20292|0.20292	0.0488|0.0488	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.32653|.	0.124;0.275;0.379|.	B;B;B|.	0.30495|.	0.02;0.116;0.033|.	T|T	0.24012|0.24012	-1.0172|-1.0172	10|5	0.37606|.	T|.	0.19|.	.|.	0.7004|0.7004	0.00906|0.00906	0.3122:0.1651:0.354:0.1688|0.3122:0.1651:0.354:0.1688	.|.	881;1118;2748|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	A|C	2691;1554;2748;867;1118;881;152|1203	ENSP00000367100:G2691A;ENSP00000220616:G2748A;ENSP00000441693:G1118A;ENSP00000430430:G881A;ENSP00000430161:G152A|.	ENSP00000220616:G2748A|.	G|W	+|+	2|3	0|0	TG|TG	134216156|134216156	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.094000|0.094000	0.18550|0.18550	-1.017000|-1.017000	0.03630|0.03630	-0.540000|-0.540000	0.06265|0.06265	0.313000|0.313000	0.20887|0.20887	GGA|TGG		0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		14	75	0	0	0	1	0	14	75				
GRXCR1	389207	broad.mit.edu	37	4	43022374	43022374	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:43022374G>T	ENST00000399770.2	+	3	631	c.631G>T	c.(631-633)Gct>Tct	p.A211S		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	211	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTAATAGGGTGCTGAGAAAAT	0.338																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(631-633)Gct>Tct		glutaredoxin, cysteine rich 1							84.0	79.0	80.0					4																	43022374		1829	4075	5904	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:43022374G>T		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.631G>T	4.37:g.43022374G>T	ENSP00000382670:p.Ala211Ser						p.A211S	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			3	631	+			211			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.631G>T	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716081	0.68844	.	.	ENSG00000215203	ENST00000399770	T	0.75477	-0.94	5.92	5.92	0.95590	Glutaredoxin (1);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000002	D	0.84215	0.5423	L	0.53249	1.67	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.83547	0.0099	10	0.54805	T	0.06	-1.2575	19.3181	0.94224	0.0:0.0:1.0:0.0	.	211	A8MXD5	GRCR1_HUMAN	S	211	ENSP00000382670:A211S	ENSP00000382670:A211S	A	+	1	0	GRXCR1	42717131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.105000	0.94246	2.810000	0.96702	0.585000	0.79938	GCT		0.338	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		8	19	1	0	0.00307968	1	0.00322431	8	19				
HAND1	9421	broad.mit.edu	37	5	153855371	153855371	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:153855371G>T	ENST00000231121.2	-	2	898	c.643C>A	c.(643-645)Cag>Aag	p.Q215K		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	215					angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCGGCTCACTGGTTTAACTCC	0.677																																						ENST00000231121.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(643-645)Cag>Aag		heart and neural crest derivatives expressed 1							21.0	24.0	23.0					5																	153855371		2203	4300	6503	SO:0001583	missense	9421				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity	g.chr5:153855371G>T	AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.643C>A	5.37:g.153855371G>T	ENSP00000231121:p.Gln215Lys						p.Q215K	NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		2	898	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	215						Missense_Mutation	SNP	ENST00000231121.2	37	c.643C>A	CCDS4327.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117403	0.94385	.	.	ENSG00000113196	ENST00000231121	D	0.97114	-4.25	5.21	5.21	0.72293	.	0.071416	0.64402	D	0.000016	D	0.97726	0.9254	L	0.57536	1.79	0.50313	D	0.999864	D	0.67145	0.996	P	0.61477	0.889	D	0.98532	1.0628	10	0.87932	D	0	.	18.7136	0.91667	0.0:0.0:1.0:0.0	.	215	O96004	HAND1_HUMAN	K	215	ENSP00000231121:Q215K	ENSP00000231121:Q215K	Q	-	1	0	HAND1	153835564	.	.	1.000000	0.80357	0.997000	0.91878	.	.	2.595000	0.87683	0.561000	0.74099	CAG		0.677	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252511.1	NM_004821		5	39	1	0	0.000602214	1	0.00064528	5	39				
KCNIP2	30819	broad.mit.edu	37	10	103588855	103588855	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:103588855C>A	ENST00000356640.2	-	4	600	c.325G>T	c.(325-327)Gtc>Ttc	p.V109F	KCNIP2_ENST00000343195.4_Missense_Mutation_p.V59F|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000370046.1_Missense_Mutation_p.V59F|KCNIP2_ENST00000348850.5_Missense_Mutation_p.V64F|KCNIP2_ENST00000461105.1_Missense_Mutation_p.V124F|KCNIP2_ENST00000353068.3_Missense_Mutation_p.V59F|KCNIP2_ENST00000358038.3_Missense_Mutation_p.V91F	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	109	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		CGGTACAGGACCTGCAACTCC	0.587																																						ENST00000358038.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(271-273)Gtc>Ttc		Kv channel interacting protein 2							97.0	79.0	85.0					10																	103588855		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding	g.chr10:103588855C>A		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.325G>T	10.37:g.103588855C>A	ENSP00000349055:p.Val109Phe					KCNIP2_ENST00000343195.4_Missense_Mutation_p.V59F|KCNIP2_ENST00000348850.5_Missense_Mutation_p.V64F|KCNIP2_ENST00000461105.1_Missense_Mutation_p.V124F|KCNIP2_ENST00000353068.3_Missense_Mutation_p.V59F|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000370046.1_Missense_Mutation_p.V59F|KCNIP2_ENST00000356640.2_Missense_Mutation_p.V109F	p.V91F	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	3	622	-		Colorectal(252;0.122)	109			EF-hand 1; degenerate.		A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.271G>T	CCDS7522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.28|16.28	3.079823|3.079823	0.55753|0.55753	.|.	.|.	ENSG00000120049|ENSG00000120049	ENST00000359877;ENST00000434163|ENST00000348850;ENST00000358038;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000353068;ENST00000461105;ENST00000343195;ENST00000239117	T|T;T;T;T;T;T;T;T	0.76839|0.20463	-1.05|2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.1|5.1	5.1|5.1	0.69264|0.69264	.|EF-hand-like domain (1);	.|0.075180	.|0.51477	.|D	.|0.000082	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.21194|0.21194	0.64|0.64	0.52501|0.52501	D|D	0.999955|0.999955	B;B|B;B;B;B;B;B;B;B;B;B	0.23377|0.17268	0.084;0.042|0.001;0.005;0.0;0.0;0.0;0.021;0.001;0.009;0.006;0.003	B;B|B;B;B;B;B;B;B;B;B;B	0.30316|0.27500	0.053;0.114|0.008;0.012;0.004;0.002;0.004;0.019;0.007;0.08;0.005;0.003	T|T	0.05289|0.05289	-1.0894|-1.0894	9|10	0.33940|0.59425	T|D	0.23|0.04	.|.	18.1289|18.1289	0.89595|0.89595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	30;39|59;64;59;59;59;91;59;124;109;64	B3KSZ5;Q9NS61-8|Q9NS61-9;B4DW99;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;Q3YAC6	.;.|.;.;.;.;.;.;.;.;KCIP2_HUMAN;.	S|F	30;39|64;91;91;109;59;59;124;59;59	ENSP00000411679:R39S|ENSP00000239118:V64F;ENSP00000350733:V91F;ENSP00000349055:V109F;ENSP00000359063:V59F;ENSP00000341624:V59F;ENSP00000420040:V124F;ENSP00000344169:V59F;ENSP00000239117:V59F	ENSP00000352940:R30S|ENSP00000239117:V59F	R|V	-|-	3|1	2|0	KCNIP2|KCNIP2	103578845|103578845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	2.560000|2.560000	0.45896|0.45896	2.379000|2.379000	0.81126|0.81126	0.561000|0.561000	0.74099|0.74099	AGG|GTC		0.587	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			10	52	1	0	1.61879e-10	1	2.12583e-10	10	52				
PCDHB1	29930	broad.mit.edu	37	5	140432032	140432032	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140432032G>T	ENST00000306549.3	+	1	1054	c.977G>T	c.(976-978)gGc>gTc	p.G326V		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	326	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATGGTGGAGGCCTCTCTGCC	0.498																																						ENST00000306549.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(976-978)gGc>gTc									129.0	123.0	125.0					5																	140432032		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432032G>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.977G>T	5.37:g.140432032G>T	ENSP00000307234:p.Gly326Val						p.G326V	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1054	+			326			Cadherin 3.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.977G>T	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578059	0.45902	.	.	ENSG00000171815	ENST00000306549	T	0.01745	4.66	6.17	6.17	0.99709	Cadherin (6);Cadherin-like (1);	0.000000	0.48286	D	0.000184	T	0.05227	0.0139	L	0.28344	0.845	0.58432	D	0.999996	D	0.63880	0.993	D	0.65874	0.939	T	0.45659	-0.9246	10	0.87932	D	0	.	14.9585	0.71138	0.0693:0.0:0.9307:0.0	.	326	Q9Y5F3	PCDB1_HUMAN	V	326	ENSP00000307234:G326V	ENSP00000307234:G326V	G	+	2	0	PCDHB1	140412216	0.895000	0.30542	1.000000	0.80357	0.841000	0.47740	1.105000	0.31086	2.941000	0.99782	0.655000	0.94253	GGC		0.498	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		20	101	1	0	9.95505e-16	1	1.50147e-15	20	101				
OR9Q1	219956	broad.mit.edu	37	11	57947814	57947814	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:57947814C>A	ENST00000335397.3	+	3	1214	c.898C>A	c.(898-900)Ctg>Atg	p.L300M		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GAAGGAGGCCCTGAGAAAAAT	0.473																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(898-900)Ctg>Atg		olfactory receptor, family 9, subfamily Q, member 1							44.0	45.0	45.0					11																	57947814		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947814C>A	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.898C>A	11.37:g.57947814C>A	ENSP00000334934:p.Leu300Met						p.L300M	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	1214	+		Breast(21;0.222)	300					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.898C>A	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	C	6.328	0.428584	0.11987	.	.	ENSG00000186509	ENST00000335397	T	0.46451	0.87	4.91	-1.84	0.07809	.	0.486546	0.15141	N	0.278266	T	0.31231	0.0790	L	0.56769	1.78	0.09310	N	1	B	0.28378	0.209	B	0.20955	0.032	T	0.17289	-1.0374	10	0.45353	T	0.12	-0.4468	6.5061	0.22196	0.0998:0.2761:0.4908:0.1333	.	300	Q8NGQ5	OR9Q1_HUMAN	M	300	ENSP00000334934:L300M	ENSP00000334934:L300M	L	+	1	2	OR9Q1	57704390	0.000000	0.05858	0.000000	0.03702	0.581000	0.36288	-2.673000	0.00842	-0.167000	0.10871	0.484000	0.47621	CTG		0.473	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		14	53	1	0	0.00185496	1	0.00196004	14	53				
ABCC9	10060	broad.mit.edu	37	12	22061099	22061099	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:22061099G>T	ENST00000261201.4	-	9	1366	c.1367C>A	c.(1366-1368)gCa>gAa	p.A456E	ABCC9_ENST00000261200.4_Missense_Mutation_p.A456E|ABCC9_ENST00000345162.2_Missense_Mutation_p.A456E	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	456	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ACCGACCAATGCACTTGATCC	0.423																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(1366-1368)gCa>gAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						75.0	65.0	68.0					12																	22061099		2203	4299	6502	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22061099G>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1367C>A	12.37:g.22061099G>T	ENSP00000261201:p.Ala456Glu					ABCC9_ENST00000345162.2_Missense_Mutation_p.A456E|ABCC9_ENST00000261201.4_Missense_Mutation_p.A456E	p.A456E	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			9	1366	-			456			ABC transmembrane type-1 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.1367C>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827889	0.90955	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.29	5.29	0.74685	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95436	0.8518	M	0.83223	2.63	0.80722	D	1	D;D	0.60575	0.988;0.968	D;P	0.64877	0.93;0.715	D	0.95585	0.8650	10	0.72032	D	0.01	-19.0243	19.1338	0.93418	0.0:0.0:1.0:0.0	.	456;456	O60706;O60706-2	ABCC9_HUMAN;.	E	456;119;456;456	ENSP00000261200:A456E;ENSP00000440521:A119E;ENSP00000261201:A456E;ENSP00000261202:A456E	ENSP00000261200:A456E	A	-	2	0	ABCC9	21952366	1.000000	0.71417	0.309000	0.25155	0.939000	0.58152	9.514000	0.98013	2.752000	0.94435	0.655000	0.94253	GCA		0.423	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		5	32	1	0	1.024e-07	1	1.26137e-07	5	32				
MAGI2	9863	broad.mit.edu	37	7	77885797	77885797	+	Missense_Mutation	SNP	G	G	T	rs571878580		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:77885797G>T	ENST00000354212.4	-	10	1763	c.1510C>A	c.(1510-1512)Ctg>Atg	p.L504M	MAGI2_ENST00000419488.1_Missense_Mutation_p.L504M|MAGI2_ENST00000535697.1_Missense_Mutation_p.L341M|MAGI2_ENST00000536571.1_Missense_Mutation_p.L336M|MAGI2_ENST00000522391.1_Missense_Mutation_p.L504M	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	504	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CACAACACCAGGTTGACACTC	0.468																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1510-1512)Ctg>Atg		membrane associated guanylate kinase, WW and PDZ domain containing 2							68.0	59.0	62.0					7																	77885797		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885797G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1510C>A	7.37:g.77885797G>T	ENSP00000346151:p.Leu504Met					MAGI2_ENST00000535697.1_Missense_Mutation_p.L341M|MAGI2_ENST00000522391.1_Missense_Mutation_p.L504M|MAGI2_ENST00000419488.1_Missense_Mutation_p.L504M|MAGI2_ENST00000536571.1_Missense_Mutation_p.L336M	p.L504M	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			10	1763	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	504			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1510C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728755	0.48833	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.93	3.0	0.34707	PDZ/DHR/GLGF (2);	0.000000	0.29205	U	0.012837	T	0.68183	0.2973	L	0.45352	1.415	0.58432	D	0.999996	B;P;D;D;P;D	0.71674	0.384;0.9;0.998;0.998;0.633;0.997	P;P;D;D;P;D	0.97110	0.565;0.896;1.0;1.0;0.677;0.999	T	0.63879	-0.6537	10	0.45353	T	0.12	.	8.1626	0.31207	0.4123:0.0:0.5877:0.0	.	341;336;504;504;504;504	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	M	504;504;504;504;336;341	ENSP00000405766:L504M;ENSP00000346151:L504M;ENSP00000428389:L504M;ENSP00000441584:L336M;ENSP00000441603:L341M	ENSP00000346151:L504M	L	-	1	2	MAGI2	77723733	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.698000	0.47068	0.334000	0.23590	0.555000	0.69702	CTG		0.468	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		8	26	1	0	1.06961e-07	1	1.31578e-07	8	26				
KCNJ3	3760	broad.mit.edu	37	2	155711349	155711349	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:155711349C>A	ENST00000295101.2	+	3	1507	c.1030C>A	c.(1030-1032)Cag>Aag	p.Q344K	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	344					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TGATTACTCCCAGTTCCATGC	0.423																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1030-1032)Cag>Aag		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						116.0	116.0	116.0					2																	155711349		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711349C>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1030C>A	2.37:g.155711349C>A	ENSP00000295101:p.Gln344Lys					KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	p.Q344K	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1507	+			344					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1030C>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956871	0.34565	.	.	ENSG00000162989	ENST00000295101	D	0.93426	-3.22	5.7	5.7	0.88788	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	N	0.04245	-0.25	0.80722	D	1	P	0.39696	0.683	B	0.40165	0.321	D	0.84817	0.0794	10	0.14252	T	0.57	.	18.8359	0.92162	0.0:1.0:0.0:0.0	.	344	P48549	IRK3_HUMAN	K	344	ENSP00000295101:Q344K	ENSP00000295101:Q344K	Q	+	1	0	KCNJ3	155419595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.704000	0.92352	0.650000	0.86243	CAG		0.423	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		22	48	1	0	5.26018e-13	1	7.43092e-13	22	48				
CMYA5	202333	broad.mit.edu	37	5	79029056	79029056	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:79029056A>G	ENST00000446378.2	+	2	4499	c.4468A>G	c.(4468-4470)Agg>Ggg	p.R1490G		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1490					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAGGAAGCAAGGGTAGAAGA	0.393																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(4468-4470)Agg>Ggg		cardiomyopathy associated 5							115.0	111.0	112.0					5																	79029056		1856	4099	5955	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79029056A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4468A>G	5.37:g.79029056A>G	ENSP00000394770:p.Arg1490Gly						p.R1490G	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	4499	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1490					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.4468A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	2.697	-0.271816	0.05716	.	.	ENSG00000164309	ENST00000446378	T	0.36878	1.23	5.32	1.57	0.23409	.	0.869345	0.09757	N	0.759798	T	0.16938	0.0407	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23297	-1.0192	10	0.66056	D	0.02	.	6.9357	0.24464	0.7313:0.0:0.2687:0.0	.	1490	Q8N3K9	CMYA5_HUMAN	G	1490	ENSP00000394770:R1490G	ENSP00000394770:R1490G	R	+	1	2	CMYA5	79064812	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.407000	0.21049	0.124000	0.18369	0.533000	0.62120	AGG		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		16	88	0	0	0	1	0	16	88				
ITGA8	8516	broad.mit.edu	37	10	15617509	15617509	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:15617509T>C	ENST00000378076.3	-	24	2810	c.2457A>G	c.(2455-2457)ccA>ccG	p.P819P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	819					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTCCACCAATGGTCCAACCT	0.418																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(2455-2457)ccA>ccG		integrin, alpha 8							168.0	152.0	157.0					10																	15617509		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15617509T>C	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2457A>G	10.37:g.15617509T>C							p.P819P	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			24	2810	-			819					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.2457A>G	CCDS31155.1																																																																																				0.418	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		14	52	0	0	0	1	0	14	52				
ZC3H4	23211	broad.mit.edu	37	19	47597769	47597769	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:47597769C>G	ENST00000253048.5	-	3	295	c.258G>C	c.(256-258)aaG>aaC	p.K86N	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	86							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCTTCTCCCCCTTTTCTTTCC	0.527																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(256-258)aaG>aaC		zinc finger CCCH-type containing 4							293.0	298.0	296.0					19																	47597769		1942	4121	6063	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47597769C>G	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.258G>C	19.37:g.47597769C>G	ENSP00000253048:p.Lys86Asn					ZC3H4_ENST00000594019.1_5'UTR	p.K86N	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	3	295	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	86					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.258G>C	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729593	0.48833	.	.	ENSG00000130749	ENST00000253048	T	0.20332	2.08	6.05	-0.164	0.13359	.	0.274298	0.34652	N	0.003788	T	0.23688	0.0573	L	0.47716	1.5	0.40408	D	0.979722	D	0.64830	0.994	P	0.50082	0.63	T	0.05989	-1.0852	10	0.72032	D	0.01	.	10.6869	0.45848	0.0:0.5796:0.0:0.4204	.	86	Q9UPT8	ZC3H4_HUMAN	N	86	ENSP00000253048:K86N	ENSP00000253048:K86N	K	-	3	2	ZC3H4	52289609	0.760000	0.28428	0.980000	0.43619	0.765000	0.43378	0.349000	0.20055	0.091000	0.17302	-0.133000	0.14855	AAG		0.527	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			93	263	0	0	0	1	0	93	263				
RAPH1	65059	broad.mit.edu	37	2	204305156	204305156	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:204305156G>T	ENST00000319170.5	-	14	3056	c.2757C>A	c.(2755-2757)ccC>ccA	p.P919P	ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000374493.3_Silent_p.P971P|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	919					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTCAGGAGGGGGAGGAGGGA	0.602																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2755-2757)ccC>ccA		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							56.0	65.0	62.0					2																	204305156		2203	4300	6503	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305156G>T	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2757C>A	2.37:g.204305156G>T						RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Silent_p.P971P	p.P919P	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	3056	-			919					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.2757C>A	CCDS2359.1																																																																																				0.602	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		26	71	1	0	7.92952e-12	1	1.08659e-11	26	71				
SETD1A	9739	broad.mit.edu	37	16	30991330	30991330	+	Missense_Mutation	SNP	C	C	T	rs377102722	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:30991330C>T	ENST00000262519.8	+	14	4909	c.4223C>T	c.(4222-4224)cCg>cTg	p.P1408L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1408	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						cccccacccccgccgccaccg	0.692													C|||	7	0.00139776	0.0045	0.0	5008	,	,		4381	0.001		0.0	False		,,,				2504	0.0					ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(4222-4224)cCg>cTg		SET domain containing 1A		C	LEU/PRO	1,3919		0,1,1959	5.0	6.0	5.0		4223	3.1	0.0	16		5	0,8128		0,0,4064	no	missense	SETD1A	NM_014712.1	98	0,1,6023	TT,TC,CC		0.0,0.0255,0.0083	benign	1408/1708	30991330	1,12047	1960	4064	6024	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30991330C>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4223C>T	16.37:g.30991330C>T	ENSP00000262519:p.Pro1408Leu						p.P1408L	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			14	4909	+			1408			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4223C>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	3.753	-0.051220	0.07407	2.55E-4	0.0	ENSG00000099381	ENST00000262519	D	0.94330	-3.4	4.06	3.11	0.35812	.	0.165533	0.40908	D	0.000984	D	0.83977	0.5371	N	0.19112	0.55	0.19945	N	0.999948	B	0.06786	0.001	B	0.06405	0.002	T	0.68029	-0.5517	10	0.17369	T	0.5	.	6.1652	0.20386	0.1844:0.7155:0.0:0.1001	.	1408	O15047	SET1A_HUMAN	L	1408	ENSP00000262519:P1408L	ENSP00000262519:P1408L	P	+	2	0	SETD1A	30898831	.	.	0.001000	0.08648	0.003000	0.03518	.	.	0.927000	0.37143	0.563000	0.77884	CCG		0.692	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		6	5	0	0	0	1	0	6	5				
SNHG14	104472715	broad.mit.edu	37	15	25475852	25475852	+	RNA	SNP	C	C	G	rs529703920		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:25475852C>G	ENST00000453082.2	+	0	1447				SNORD115-33_ENST00000363723.1_RNA|SNORD115-34_ENST00000362441.1_RNA|SNORD115-32_ENST00000364079.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTTTCCTGGGCCAGTGTCCAT	0.622																																						ENST00000453082.2																			0																																																			104472715							g.chr15:25475852C>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25475852C>G								NR_003343.1						0	1447	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.622	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			10	25	0	0	0	1	0	10	25				
ASCC3	10973	broad.mit.edu	37	6	101075745	101075745	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:101075745G>C	ENST00000369162.2	-	28	4838	c.4494C>G	c.(4492-4494)gaC>gaG	p.D1498E		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1498	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATCAGCAAGGTCTCTGGCAT	0.328																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(4492-4494)gaC>gaG		activating signal cointegrator 1 complex subunit 3							106.0	100.0	102.0					6																	101075745		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101075745G>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4494C>G	6.37:g.101075745G>C	ENSP00000358159:p.Asp1498Glu						p.D1498E	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	28	4838	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1498			Helicase ATP-binding 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.4494C>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516216	0.64634	.	.	ENSG00000112249	ENST00000369162	T	0.35973	1.28	6.07	2.31	0.28768	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.26087	-1.0113	10	0.56958	D	0.05	.	11.4974	0.50417	0.3538:0.0:0.6462:0.0	.	1498	Q8N3C0	HELC1_HUMAN	E	1498	ENSP00000358159:D1498E	ENSP00000358159:D1498E	D	-	3	2	ASCC3	101182466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.414000	0.44627	0.449000	0.26747	0.655000	0.94253	GAC		0.328	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		12	32	0	0	0	1	0	12	32				
NEDD4	4734	broad.mit.edu	37	15	56152955	56152955	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:56152955C>G	ENST00000508342.1	-	6	2252	c.1953G>C	c.(1951-1953)gaG>gaC	p.E651D	NEDD4_ENST00000506154.1_Missense_Mutation_p.E635D|NEDD4_ENST00000435532.3_Missense_Mutation_p.E232D|NEDD4_ENST00000338963.2_Missense_Mutation_p.E579D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	651	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGTTGCCATTCTCAGCATCTG	0.418																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1951-1953)gaG>gaC		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							205.0	186.0	193.0					15																	56152955		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56152955C>G	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1953G>C	15.37:g.56152955C>G	ENSP00000424827:p.Glu651Asp					NEDD4_ENST00000338963.2_Missense_Mutation_p.E579D|NEDD4_ENST00000435532.3_Missense_Mutation_p.E232D|NEDD4_ENST00000506154.1_Missense_Mutation_p.E635D	p.E651D			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	6	2252	-			651			Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.1953G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.472|8.472	0.857732|0.857732	0.17178|0.17178	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.21543|.	2.04;2.11;2.06;2.0|.	5.66|5.66	0.451|0.451	0.16629|0.16629	.|.	1.413310|.	0.04203|.	N|.	0.330427|.	T|T	0.15305|0.15305	0.0369|0.0369	N|N	0.12746|0.12746	0.255|0.255	0.18873|0.18873	N|N	0.999986|0.999986	B;B;B;B|.	0.09022|.	0.001;0.001;0.001;0.002|.	B;B;B;B|.	0.12837|.	0.003;0.008;0.001;0.008|.	T|T	0.21586|0.21586	-1.0241|-1.0241	10|5	0.31617|.	T|.	0.26|.	.|.	1.0995|1.0995	0.01680|0.01680	0.1353:0.3396:0.236:0.2892|0.1353:0.3396:0.236:0.2892	.|.	635;232;651;579|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	D|T	651;232;579;635|242	ENSP00000424827:E651D;ENSP00000410613:E232D;ENSP00000345530:E579D;ENSP00000422705:E635D|.	ENSP00000345530:E579D|.	E|R	-|-	3|2	2|0	NEDD4|NEDD4	53940247|53940247	0.022000|0.022000	0.18835|0.18835	0.048000|0.048000	0.18961|0.18961	0.914000|0.914000	0.54420|0.54420	-0.075000|-0.075000	0.11431|0.11431	-0.157000|-0.157000	0.11059|0.11059	0.585000|0.585000	0.79938|0.79938	GAG|AGA		0.418	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		8	72	0	0	0	1	0	8	72				
NDNF	79625	broad.mit.edu	37	4	121958603	121958603	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:121958603C>T	ENST00000379692.4	-	4	1049	c.523G>A	c.(523-525)Gag>Aag	p.E175K	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	175					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TAGGGTAACTCAGGGTATGGC	0.488																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(523-525)Gag>Aag		neuron-derived neurotrophic factor							196.0	197.0	197.0					4																	121958603		2059	4202	6261	SO:0001583	missense	79625							g.chr4:121958603C>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.523G>A	4.37:g.121958603C>T	ENSP00000369014:p.Glu175Lys					NDNF_ENST00000506900.1_5'UTR	p.E175K	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1049	-			175					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.523G>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996338	0.54147	.	.	ENSG00000173376	ENST00000379692	T	0.54071	0.59	6.06	6.06	0.98353	.	0.090074	0.85682	D	0.000000	T	0.54838	0.1883	M	0.64997	1.995	0.80722	D	1	P	0.36683	0.565	B	0.33846	0.171	T	0.58769	-0.7578	10	0.87932	D	0	-31.2396	20.6208	0.99490	0.0:1.0:0.0:0.0	.	175	Q8TB73	NDNF_HUMAN	K	175	ENSP00000369014:E175K	ENSP00000369014:E175K	E	-	1	0	NDNF	122178053	0.998000	0.40836	0.141000	0.22245	0.836000	0.47400	3.940000	0.56599	2.882000	0.98803	0.655000	0.94253	GAG		0.488	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		37	110	0	0	0	1	0	37	110				
GREM2	64388	broad.mit.edu	37	1	240656401	240656401	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:240656401G>T	ENST00000318160.4	-	2	641	c.375C>A	c.(373-375)ccC>ccA	p.P125P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	125	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TGACGCGCTGGGGCTTGCAGA	0.617																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(373-375)ccC>ccA		gremlin 2, DAN family BMP antagonist							60.0	64.0	63.0					1																	240656401		2203	4300	6503	SO:0001819	synonymous_variant	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656401G>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.375C>A	1.37:g.240656401G>T							p.P125P	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	641	-		all_cancers(173;0.0196)	125			CTCK.		Q86UD9	Silent	SNP	ENST00000318160.4	37	c.375C>A	CCDS31070.1																																																																																				0.617	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		24	62	1	0	7.92952e-12	1	1.08659e-11	24	62				
DMWD	1762	broad.mit.edu	37	19	46289271	46289271	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:46289271T>A	ENST00000270223.6	-	3	1528	c.1483A>T	c.(1483-1485)Agt>Tgt	p.S495C	DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.S495C|AC011530.4_ENST00000593999.1_5'Flank	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	495										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGCGGGAGACTGTTGGAGCGG	0.736																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1483-1485)Agt>Tgt		dystrophia myotonica, WD repeat containing							5.0	7.0	6.0					19																	46289271		1867	3711	5578	SO:0001583	missense	1762				meiosis			g.chr19:46289271T>A	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1483A>T	19.37:g.46289271T>A	ENSP00000270223:p.Ser495Cys					DMWD_ENST00000377735.3_Missense_Mutation_p.S495C	p.S495C	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1528	-		Ovarian(192;0.0308)|all_neural(266;0.112)	495						Missense_Mutation	SNP	ENST00000270223.6	37	c.1483A>T	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894114	0.52121	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.61627	0.1;0.09	4.12	4.12	0.48240	.	0.134641	0.52532	D	0.000065	T	0.70675	0.3251	M	0.62723	1.935	0.40988	D	0.98483	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.994;0.995;0.99	T	0.74542	-0.3631	10	0.72032	D	0.01	-40.4677	11.3696	0.49692	0.0:0.0:0.0:1.0	.	180;495;495	Q8WUW6;G5E9A7;Q09019	.;.;DMWD_HUMAN	C	495	ENSP00000366964:S495C;ENSP00000270223:S495C	ENSP00000270223:S495C	S	-	1	0	DMWD	50981111	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	3.237000	0.51344	1.868000	0.54150	0.379000	0.24179	AGT		0.736	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		6	12	0	0	0	1	0	6	12				
SMG8	55181	broad.mit.edu	37	17	57292352	57292352	+	Missense_Mutation	SNP	G	G	T	rs199530560		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:57292352G>T	ENST00000543872.2	+	5	3229	c.2965G>T	c.(2965-2967)Gta>Tta	p.V989L	CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.V108L|SMG8_ENST00000300917.5_Missense_Mutation_p.V989L			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	989					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TCTTAAGGCAGTAACACAATA	0.408																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2965-2967)Gta>Tta		SMG8 nonsense mediated mRNA decay factor							98.0	94.0	95.0					17																	57292352		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57292352G>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2965G>T	17.37:g.57292352G>T	ENSP00000438748:p.Val989Leu					SMG8_ENST00000300917.5_Missense_Mutation_p.V989L|CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.V108L	p.V989L			Q8ND04	SMG8_HUMAN			5	3229	+			989					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2965G>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833651	0.50951	.	.	ENSG00000167447	ENST00000300917	T	0.47528	0.84	5.73	5.73	0.89815	.	0.365474	0.32231	N	0.006393	T	0.38161	0.1030	L	0.38175	1.15	0.32204	N	0.577409	B	0.15141	0.012	B	0.13407	0.009	T	0.41592	-0.9500	10	0.36615	T	0.2	-12.4197	12.1596	0.54098	0.0859:0.0:0.914:0.0	.	989	Q8ND04	SMG8_HUMAN	L	989	ENSP00000300917:V989L	ENSP00000300917:V989L	V	+	1	0	SMG8	54647134	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.336000	0.43938	2.707000	0.92482	0.561000	0.74099	GTA		0.408	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		15	63	1	0	3.41278e-10	1	4.45612e-10	15	63				
APLP1	333	broad.mit.edu	37	19	36361823	36361823	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36361823G>A	ENST00000221891.4	+	3	509	c.317G>A	c.(316-318)cGt>cAt	p.R106H	APLP1_ENST00000537454.2_Missense_Mutation_p.R67H|APLP1_ENST00000586861.1_Missense_Mutation_p.R100H|NPHS1_ENST00000591817.1_5'Flank	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	106					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGATTGCACGTGTGGAGCAG	0.692																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(316-318)cGt>cAt		amyloid beta (A4) precursor-like protein 1							21.0	23.0	22.0					19																	36361823		2202	4299	6501	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36361823G>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.317G>A	19.37:g.36361823G>A	ENSP00000221891:p.Arg106His					APLP1_ENST00000586861.1_Missense_Mutation_p.R100H|APLP1_ENST00000537454.2_Missense_Mutation_p.R67H	p.R106H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	509	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		106					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.317G>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425359	0.62733	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94000	-3.24;-3.33	5.06	5.06	0.68205	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.000000	0.49916	D	0.000126	D	0.93785	0.8013	N	0.25647	0.755	0.41272	D	0.986857	D;P;P;P	0.89917	1.0;0.635;0.584;0.637	D;B;B;B	0.87578	0.998;0.082;0.059;0.098	D	0.94537	0.7741	10	0.66056	D	0.02	-14.8047	13.913	0.63878	0.0:0.0:1.0:0.0	.	100;67;106;106	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	H	67;106	ENSP00000441501:R67H;ENSP00000221891:R106H	ENSP00000221891:R106H	R	+	2	0	APLP1	41053663	0.304000	0.24472	0.996000	0.52242	0.359000	0.29487	3.573000	0.53856	2.352000	0.79861	0.555000	0.69702	CGT		0.692	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		3	15	0	0	0	1	0	3	15				
EPX	8288	broad.mit.edu	37	17	56270806	56270806	+	Missense_Mutation	SNP	C	C	A	rs144925948	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:56270806C>A	ENST00000225371.5	+	3	355	c.245C>A	c.(244-246)gCc>gAc	p.A82D		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	82					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCGGTAGCAGCCACCAGGACA	0.582																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(244-246)gCc>gAc		eosinophil peroxidase							88.0	83.0	85.0					17																	56270806		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270806C>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.245C>A	17.37:g.56270806C>A	ENSP00000225371:p.Ala82Asp						p.A82D	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			3	355	+			82					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.245C>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	4.147	0.025623	0.08054	.	.	ENSG00000121053	ENST00000225371	T	0.70516	-0.49	4.59	2.25	0.28309	.	0.795058	0.11788	N	0.529524	T	0.66597	0.2805	L	0.57536	1.79	0.09310	N	0.999999	P	0.48503	0.911	P	0.45276	0.475	T	0.54997	-0.8209	10	0.11794	T	0.64	-7.6537	11.8514	0.52413	0.0:0.4504:0.5496:0.0	.	82	P11678	PERE_HUMAN	D	82	ENSP00000225371:A82D	ENSP00000225371:A82D	A	+	2	0	EPX	53625805	0.091000	0.21658	0.825000	0.32803	0.241000	0.25554	0.810000	0.27183	1.017000	0.39495	0.549000	0.68633	GCC		0.582	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		39	119	1	0	5.73237e-09	1	7.28704e-09	39	119				
SRPK1	6732	broad.mit.edu	37	6	35837403	35837403	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:35837403C>G	ENST00000373825.2	-	11	1552	c.1267G>C	c.(1267-1269)Gac>Cac	p.D423H	SRPK1_ENST00000423325.2_Missense_Mutation_p.D407H|SRPK1_ENST00000373822.1_Missense_Mutation_p.D316H					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCATGGTGTCTGACACCTCA	0.438																																					NSCLC(31;67 978 16289 24856 26454)	ENST00000373825.2																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1267-1269)Gac>Cac		SRSF protein kinase 1							182.0	171.0	175.0					6																	35837403		1996	4185	6181	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35837403C>G	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1267G>C	6.37:g.35837403C>G	ENSP00000362931:p.Asp423His					SRPK1_ENST00000373822.1_Missense_Mutation_p.D316H|SRPK1_ENST00000423325.2_Missense_Mutation_p.D407H	p.D423H			Q96SB4	SRPK1_HUMAN			11	1552	-			423			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.1267G>C	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449551	0.43531	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.28255	1.62;1.62;1.62;1.68	5.66	5.66	0.87406	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.40703	D	0.982503	P;P	0.40050	0.523;0.7	B;B	0.43701	0.332;0.428	T	0.07520	-1.0768	9	0.49607	T	0.09	-12.2198	17.0395	0.86484	0.0:1.0:0.0:0.0	.	407;423	B4DS61;Q96SB4	.;SRPK1_HUMAN	H	423;439;407;316	ENSP00000362931:D423H;ENSP00000354674:D439H;ENSP00000391069:D407H;ENSP00000362928:D316H	ENSP00000354674:D439H	D	-	1	0	SRPK1	35945381	1.000000	0.71417	0.984000	0.44739	0.884000	0.51177	4.995000	0.63908	2.832000	0.97577	0.655000	0.94253	GAC		0.438	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		16	44	0	0	0	1	0	16	44				
DPF1	8193	broad.mit.edu	37	19	38713074	38713074	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:38713074G>A	ENST00000420980.2	-	3	328	c.302C>T	c.(301-303)cCc>cTc	p.P101L	DPF1_ENST00000414789.1_Missense_Mutation_p.P19L|DPF1_ENST00000416611.1_Missense_Mutation_p.P75L|DPF1_ENST00000355526.4_Missense_Mutation_p.P101L|DPF1_ENST00000412732.1_Missense_Mutation_p.P19L|DPF1_ENST00000456296.1_Missense_Mutation_p.P75L	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	101					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACAGCGGGCGGGGTACGTGTA	0.701																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(223-225)cCc>cTc		D4, zinc and double PHD fingers family 1							105.0	104.0	104.0					19																	38713074		2203	4300	6503	SO:0001583	missense	8193				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713074G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.302C>T	19.37:g.38713074G>A	ENSP00000397354:p.Pro101Leu					DPF1_ENST00000412732.1_Missense_Mutation_p.P19L|DPF1_ENST00000456296.1_Missense_Mutation_p.P75L|DPF1_ENST00000420980.2_Missense_Mutation_p.P101L|DPF1_ENST00000414789.1_Missense_Mutation_p.P19L|DPF1_ENST00000355526.4_Missense_Mutation_p.P101L	p.P75L			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	347	-	all_cancers(60;1.24e-06)		101					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.224C>T	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	g	23.2	4.382247	0.82792	.	.	ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060;ENST00000434076;ENST00000438365	D;D;D;D;D;T	0.94650	-2.61;-3.48;-2.52;-3.48;-2.96;1.32	3.36	3.36	0.38483	.	0.000000	0.64402	D	0.000009	D	0.96993	0.9018	M	0.82716	2.605	0.80722	D	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	0.999;0.999;1.0;1.0;1.0;0.991	D	0.97556	1.0095	10	0.87932	D	0	-7.8129	14.021	0.64555	0.0:0.0:1.0:0.0	.	75;75;74;101;101;101	B4DMQ8;E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.;.;.;.;.;DPF1_HUMAN	L	101;101;19;75;19;75;19;75;19	ENSP00000397354:P101L;ENSP00000412098:P19L;ENSP00000390223:P75L;ENSP00000391884:P19L;ENSP00000411569:P75L;ENSP00000416347:P19L	ENSP00000412098:P19L	P	-	2	0	DPF1	43404914	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.939000	0.75911	1.902000	0.55061	0.394000	0.25966	CCC		0.701	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			54	143	0	0	0	1	0	54	143				
TTN	7273	broad.mit.edu	37	2	179431010	179431010	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179431010T>C	ENST00000591111.1	-	276	75150	c.74926A>G	c.(74926-74928)Aaa>Gaa	p.K24976E	TTN_ENST00000342175.6_Missense_Mutation_p.K17744E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K17677E|TTN_ENST00000460472.2_Missense_Mutation_p.K17552E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K26617E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24049E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24976	Ig-like 123.				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)			GGACGACCTTTGAATGGAATG	0.413																																						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.(79849-79851)Aaa>Gaa		titin							166.0	161.0	163.0					2																	179431010		1931	4156	6087	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431010T>C	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.74926A>G	2.37:g.179431010T>C	ENSP00000465570:p.Lys24976Glu					TTN_ENST00000359218.5_Missense_Mutation_p.K17677E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K24049E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K17744E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K24976E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K17552E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.K26617E	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	80073	-			24976			Fibronectin type-III 94.		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.79849A>G		.	.	.	.	.	.	.	.	.	.	T	14.62	2.590841	0.46214	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.91	5.91	0.95273	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66127	0.2758	L	0.49640	1.575	0.51767	D	0.999933	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.48770	0.589;0.589;0.589;0.589	T	0.70070	-0.4973	9	0.87932	D	0	.	16.3472	0.83146	0.0:0.0:0.0:1.0	.	17552;17677;17744;24976	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	24049;17552;17744;17677;17550	ENSP00000343764:K24049E;ENSP00000434586:K17552E;ENSP00000340554:K17744E;ENSP00000352154:K17677E	ENSP00000340554:K17744E	K	-	1	0	TTN	179139256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.266000	0.75297	0.454000	0.30748	AAA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	113	0	0	0	1	0	37	113				
PLCH1	23007	broad.mit.edu	37	3	155208590	155208590	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:155208590C>G	ENST00000340059.7	-	18	2338	c.2339G>C	c.(2338-2340)cGt>cCt	p.R780P	PLCH1_ENST00000460012.1_Missense_Mutation_p.R762P|PLCH1_ENST00000414191.1_Missense_Mutation_p.R762P|PLCH1_ENST00000447496.2_Missense_Mutation_p.R780P|PLCH1_ENST00000334686.6_Missense_Mutation_p.R762P|PLCH1_ENST00000494598.1_Missense_Mutation_p.R780P	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	780	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCTACCACACGGGTTTGATC	0.308																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2284-2286)cGt>cCt		phospholipase C, eta 1							116.0	106.0	109.0					3																	155208590		2203	4297	6500	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155208590C>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2339G>C	3.37:g.155208590C>G	ENSP00000345988:p.Arg780Pro					PLCH1_ENST00000494598.1_Missense_Mutation_p.R780P|PLCH1_ENST00000414191.1_Missense_Mutation_p.R762P|PLCH1_ENST00000340059.7_Missense_Mutation_p.R780P|PLCH1_ENST00000447496.2_Missense_Mutation_p.R780P|PLCH1_ENST00000334686.6_Missense_Mutation_p.R762P	p.R762P			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		19	2642	-			780			C2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2285G>C	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655071	0.88056	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	6.06	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.75777	2.31	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.85807	0.1377	10	0.72032	D	0.01	.	15.4877	0.75578	0.0:0.9338:0.0:0.0662	.	762;780;780	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	P	780;762;780;780;762;762	ENSP00000419100:R780P;ENSP00000417502:R762P;ENSP00000402759:R780P;ENSP00000345988:R780P;ENSP00000335469:R762P;ENSP00000412977:R762P	ENSP00000335469:R762P	R	-	2	0	PLCH1	156691284	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	5.986000	0.70563	1.572000	0.49736	0.650000	0.86243	CGT		0.308	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		20	34	0	0	0	1	0	20	34				
MEF2C	4208	broad.mit.edu	37	5	88057117	88057117	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:88057117C>A	ENST00000437473.2	-	4	704	c.287G>T	c.(286-288)tGt>tTt	p.C96F	MEF2C_ENST00000510942.1_Missense_Mutation_p.C96F|MEF2C_ENST00000340208.5_Missense_Mutation_p.C96F|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000504921.2_Missense_Mutation_p.C96F|MEF2C_ENST00000514015.1_Missense_Mutation_p.C96F|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000514028.1_Missense_Mutation_p.C96F|MEF2C_ENST00000508569.1_Missense_Mutation_p.C96F|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000506554.1_Missense_Mutation_p.C96F	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	96					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGGGCTGTCACAGCCATTAAG	0.443										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(286-288)tGt>tTt		myocyte enhancer factor 2C							101.0	101.0	101.0					5																	88057117		1871	4102	5973	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88057117C>A	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.287G>T	5.37:g.88057117C>A	ENSP00000396219:p.Cys96Phe	HNSCC(66;0.2)				MEF2C_ENST00000506554.1_Missense_Mutation_p.C96F|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000340208.5_Missense_Mutation_p.C96F|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000514015.1_Missense_Mutation_p.C96F|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000510942.1_Missense_Mutation_p.C96F|MEF2C_ENST00000508569.1_Missense_Mutation_p.C96F|MEF2C_ENST00000514028.1_Missense_Mutation_p.C96F|MEF2C_ENST00000437473.2_Missense_Mutation_p.C96F	p.C96F			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	4	959	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	96					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.287G>T	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283532	0.80803	.	.	ENSG00000081189	ENST00000340208;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000502983;ENST00000508610;ENST00000502831	T;T;T;T;T;T;T;T;D;D;D	0.86230	0.17;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-2.09;-2.07;-1.86	5.93	5.93	0.95920	Holliday junction regulator protein family C-terminal repeat (1);	0.000000	0.85682	D	0.000000	D	0.94275	0.8161	M	0.84082	2.675	0.80722	D	1	D;P;P	0.60575	0.988;0.537;0.546	D;B;P	0.74348	0.983;0.438;0.674	D	0.94184	0.7434	10	0.87932	D	0	-3.772	20.3363	0.98740	0.0:1.0:0.0:0.0	.	96;96;96	F8W7V7;Q06413;Q06413-2	.;MEF2C_HUMAN;.	F	96	ENSP00000340874:C96F;ENSP00000421925:C96F;ENSP00000426665:C96F;ENSP00000396219:C96F;ENSP00000422390:C96F;ENSP00000425636:C96F;ENSP00000423597:C96F;ENSP00000424606:C96F;ENSP00000427163:C96F;ENSP00000426442:C96F;ENSP00000427286:C96F	ENSP00000340874:C96F	C	-	2	0	MEF2C	88092873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.814000	0.96858	0.563000	0.77884	TGT		0.443	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		16	74	1	0	1.99824e-07	1	2.42226e-07	16	74				
PCDHB18	54660	broad.mit.edu	37	5	140615873	140615873	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140615873G>T	ENST00000526308.1	+	0	1936					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGCCGAGCCGGGCTACCTGGT	0.701																																						ENST00000526308.1																			0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														54660							g.chr5:140615873G>T	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615873G>T								NR_001281.1						0	1936	+								B3KTF8	RNA	SNP	ENST00000526308.1	37																																																																																						0.701	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			28	130	1	0	1.7881e-09	1	2.30511e-09	28	130				
MYO18B	84700	broad.mit.edu	37	22	26423551	26423551	+	Silent	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:26423551T>A	ENST00000407587.2	+	43	7783	c.7614T>A	c.(7612-7614)ggT>ggA	p.G2538G	MYO18B_ENST00000335473.7_Silent_p.G2537G|MYO18B_ENST00000536101.1_Silent_p.G2537G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2537						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGGTGACGGTGGCGAGCGAA	0.567																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7609-7611)ggT>ggA		myosin XVIIIB							42.0	45.0	44.0					22																	26423551		2007	4148	6155	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423551T>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7614T>A	22.37:g.26423551T>A						MYO18B_ENST00000407587.2_Silent_p.G2538G|MYO18B_ENST00000536101.1_Silent_p.G2537G	p.G2537G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7861	+			2537					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.7611T>A		.	.	.	.	.	.	.	.	.	.	T	1.482	-0.557051	0.03967	.	.	ENSG00000133454	ENST00000543971	.	.	.	5.06	-10.0	0.00425	.	.	.	.	.	T	0.25644	0.0624	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28554	-1.0040	4	.	.	.	.	9.7632	0.40545	0.0:0.4344:0.2818:0.2838	.	.	.	.	E	487	.	.	V	+	2	0	MYO18B	24753551	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.755000	0.01814	-1.746000	0.01335	0.459000	0.35465	GTG		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		8	27	0	0	0	1	0	8	27				
FGF23	8074	broad.mit.edu	37	12	4488609	4488609	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:4488609G>C	ENST00000237837.1	-	1	285	c.140C>G	c.(139-141)gCc>gGc	p.A47G		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	47					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCTGTTCCTGGCTGTGGCTGT	0.597																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(139-141)gCc>gGc		fibroblast growth factor 23							163.0	124.0	137.0					12																	4488609		2203	4300	6503	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4488609G>C	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.140C>G	12.37:g.4488609G>C	ENSP00000237837:p.Ala47Gly						p.A47G	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		1	285	-			47					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.140C>G	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260554	0.39995	.	.	ENSG00000118972	ENST00000237837	D	0.84873	-1.91	3.96	3.05	0.35203	.	0.102753	0.64402	D	0.000005	T	0.74665	0.3746	N	0.12637	0.245	0.29945	N	0.820714	D	0.55385	0.971	P	0.50708	0.648	T	0.68961	-0.5271	10	0.15066	T	0.55	-31.845	8.6686	0.34137	0.0:0.132:0.604:0.264	.	47	Q9GZV9	FGF23_HUMAN	G	47	ENSP00000237837:A47G	ENSP00000237837:A47G	A	-	2	0	FGF23	4358870	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.812000	0.38952	1.230000	0.43646	0.655000	0.94253	GCC		0.597	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			12	104	0	0	0	1	0	12	104				
TMCO4	255104	broad.mit.edu	37	1	20027338	20027338	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:20027338C>A	ENST00000294543.6	-	14	1546	c.1305G>T	c.(1303-1305)gcG>gcT	p.A435A	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Silent_p.A435A|TMCO4_ENST00000375122.2_Silent_p.A395A	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	435						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCTCCACAGGCGCACCCAGCA	0.597																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1303-1305)gcG>gcT		transmembrane and coiled-coil domains 4							122.0	99.0	107.0					1																	20027338		2203	4300	6503	SO:0001819	synonymous_variant	255104					integral to membrane		g.chr1:20027338C>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1305G>T	1.37:g.20027338C>A						TMCO4_ENST00000375127.1_Silent_p.A435A|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Silent_p.A395A	p.A435A	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	14	1546	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	435					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	c.1305G>T	CCDS198.1																																																																																				0.597	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		20	86	1	0	2.94398e-08	1	3.65598e-08	20	86				
SAMD9	54809	broad.mit.edu	37	7	92735238	92735238	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:92735238C>A	ENST00000379958.2	-	3	442	c.173G>T	c.(172-174)gGc>gTc	p.G58V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	58	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTGTGATGCCCATATCAAC	0.383																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(172-174)gGc>gTc		sterile alpha motif domain containing 9							143.0	136.0	139.0					7																	92735238		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92735238C>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.173G>T	7.37:g.92735238C>A	ENSP00000369292:p.Gly58Val						p.G58V	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	442	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		58			SAM.		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.173G>T	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953197	0.73902	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.63744	-0.06;-0.06	4.79	4.79	0.61399	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.119241	0.36234	N	0.002706	T	0.78457	0.4286	M	0.72353	2.195	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.80832	-0.1206	10	0.87932	D	0	.	16.9166	0.86153	0.0:1.0:0.0:0.0	.	58	Q5K651	SAMD9_HUMAN	V	58	ENSP00000369292:G58V;ENSP00000414529:G58V	ENSP00000369292:G58V	G	-	2	0	SAMD9	92573174	0.998000	0.40836	0.992000	0.48379	0.570000	0.35934	3.942000	0.56614	2.661000	0.90470	0.603000	0.83216	GGC		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		23	78	1	0	1.10923e-09	1	1.43197e-09	23	78				
PLXNA4	91584	broad.mit.edu	37	7	131853236	131853236	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:131853236C>A	ENST00000359827.3	-	22	5075	c.4113G>T	c.(4111-4113)acG>acT	p.T1371T	PLXNA4_ENST00000321063.4_Silent_p.T1371T			Q9HCM2	PLXA4_HUMAN	plexin A4	1371					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGACTCAAGCGTGCGGATGA	0.602																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4111-4113)acG>acT		plexin A4							86.0	89.0	88.0					7																	131853236		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131853236C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4113G>T	7.37:g.131853236C>A						PLXNA4_ENST00000321063.4_Silent_p.T1371T	p.T1371T			Q9HCM2	PLXA4_HUMAN			22	5075	-			1371					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.4113G>T	CCDS43646.1																																																																																				0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		19	51	1	0	2.94398e-08	1	3.65598e-08	19	51				
BAHCC1	57597	broad.mit.edu	37	17	79428113	79428113	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:79428113C>A	ENST00000307745.7	+	30	6424	c.6424C>A	c.(6424-6426)Cac>Aac	p.H2142N	RP11-1055B8.8_ENST00000572590.1_RNA																							GTTCCCCGTGCACAGCGTGGC	0.706																																						ENST00000307745.7																			0											c.(6424-6426)Cac>Aac									10.0	14.0	13.0					17																	79428113		2089	4199	6288	SO:0001583	missense	57597							g.chr17:79428113C>A																												ENST00000307745.7:c.6424C>A	17.37:g.79428113C>A	ENSP00000303486:p.His2142Asn					RP11-1055B8.8_ENST00000572590.1_RNA	p.H2142N							30	6424	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.6424C>A		.	.	.	.	.	.	.	.	.	.	C	10.94	1.493082	0.26774	.	.	ENSG00000171282	ENST00000307745	T	0.12039	2.72	5.34	5.34	0.76211	.	0.152211	0.30464	N	0.009576	T	0.27134	0.0665	M	0.69823	2.125	0.09310	N	1	P;D	0.56035	0.956;0.974	B;P	0.50659	0.366;0.647	T	0.10019	-1.0648	10	0.45353	T	0.12	.	15.9313	0.79663	0.0:1.0:0.0:0.0	.	2142;2142	Q9P281;F8WBW8	BAHC1_HUMAN;.	N	2142	ENSP00000303486:H2142N	ENSP00000303486:H2142N	H	+	1	0	AC110285.1	77042708	0.310000	0.24527	0.073000	0.20177	0.046000	0.14306	3.989000	0.56958	2.493000	0.84123	0.455000	0.32223	CAC		0.706	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	12	1	0	0.0293803	1	0.0298043	6	12				
KCNC4	3749	broad.mit.edu	37	1	110754352	110754352	+	Missense_Mutation	SNP	T	T	A	rs191936427	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:110754352T>A	ENST00000369787.3	+	1	258	c.231T>A	c.(229-231)gaT>gaA	p.D77E	KCNC4-AS1_ENST00000455967.1_RNA|KCNC4_ENST00000413138.3_Missense_Mutation_p.D77E|KCNC4_ENST00000438661.2_Missense_Mutation_p.D77E	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	77					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCGAGACcgatggcggcggtg	0.721																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(229-231)gaT>gaA		potassium voltage-gated channel, Shaw-related subfamily, member 4							9.0	13.0	11.0					1																	110754352		2160	4214	6374	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754352T>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.231T>A	1.37:g.110754352T>A	ENSP00000358802:p.Asp77Glu					KCNC4_ENST00000438661.2_Missense_Mutation_p.D77E|KCNC4_ENST00000413138.3_Missense_Mutation_p.D77E	p.D77E	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	258	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	77					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.231T>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144403	0.57044	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97378	-4.35;-4.35;-4.36	3.63	3.63	0.41609	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	3.935910	0.01614	U	0.022677	D	0.98359	0.9455	M	0.89785	3.06	0.43819	D	0.996382	D;P;P	0.76494	0.999;0.681;0.735	D;P;P	0.77557	0.99;0.519;0.465	D	0.92952	0.6381	10	0.28530	T	0.3	.	11.2232	0.48869	0.0:0.0:0.0:1.0	.	77;77;77	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	E	77	ENSP00000358802:D77E;ENSP00000388029:D77E;ENSP00000393655:D77E	ENSP00000358802:D77E	D	+	3	2	KCNC4	110555875	1.000000	0.71417	0.875000	0.34327	0.958000	0.62258	0.923000	0.28757	1.526000	0.49068	0.459000	0.35465	GAT		0.721	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		4	16	0	0	0	1	0	4	16				
LONRF3	79836	broad.mit.edu	37	X	118124510	118124510	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:118124510G>T	ENST00000371628.3	+	5	1433	c.1402G>T	c.(1402-1404)Gct>Tct	p.A468S	LONRF3_ENST00000304778.7_Missense_Mutation_p.A427S|LONRF3_ENST00000422289.2_Missense_Mutation_p.A212S|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	468							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.A468T(1)|p.A427T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTTGAATGCGCTCTATGTAT	0.468																																						ENST00000365713.2																			2	Substitution - Missense(2)	p.A468T(1)|p.A427T(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1279-1281)Gct>Tct		LON peptidase N-terminal domain and ring finger 3							310.0	194.0	233.0					X																	118124510		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118124510G>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1402G>T	X.37:g.118124510G>T	ENSP00000360690:p.Ala468Ser					LONRF3_ENST00000422289.2_Missense_Mutation_p.A212S|LONRF3_ENST00000371628.3_Missense_Mutation_p.A468S|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.A427S	p.A427S			Q496Y0	LONF3_HUMAN			4	1442	+			468					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1279G>T	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.007|0.007	-1.997751|-1.997751	0.00435|0.00435	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;T|.	0.16324|.	2.35;2.35;2.35;2.35|.	5.3|5.3	-5.59|-5.59	0.02505|0.02505	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);|.	0.351869|.	0.29791|.	N|.	0.011184|.	T|T	0.16769|0.16769	0.0403|0.0403	N|N	0.11651|0.11651	0.15|0.15	0.09310|0.09310	N|N	1|1	B;B;B|.	0.13145|.	0.007;0.0;0.0|.	B;B;B|.	0.12837|.	0.008;0.007;0.005|.	T|T	0.32666|0.32666	-0.9898|-0.9898	10|5	0.02654|.	T|.	1|.	-8.8695|-8.8695	9.621|9.621	0.39721|0.39721	0.0:0.1402:0.5615:0.2983|0.0:0.1402:0.5615:0.2983	.|.	212;427;468|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	S|L	427;427;468;212|233	ENSP00000360691:A427S;ENSP00000307732:A427S;ENSP00000360690:A468S;ENSP00000408894:A212S|.	ENSP00000307732:A427S|.	A|R	+|+	1|2	0|0	LONRF3|LONRF3	118008538|118008538	0.511000|0.511000	0.26179|0.26179	0.004000|0.004000	0.12327|0.12327	0.150000|0.150000	0.21749|0.21749	0.373000|0.373000	0.20484|0.20484	-1.134000|-1.134000	0.02899|0.02899	-1.144000|-1.144000	0.01866|0.01866	GCT|CGC		0.468	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		24	55	1	0	1.64293e-13	1	2.36479e-13	24	55				
AGXT2	64902	broad.mit.edu	37	5	35037089	35037089	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:35037089T>C	ENST00000231420.6	-	4	644	c.444A>G	c.(442-444)gaA>gaG	p.E148E	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	148					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TCTCTGCATATTCATGCATTG	0.493																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(442-444)gaA>gaG		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						114.0	111.0	112.0					5																	35037089		2203	4300	6503	SO:0001819	synonymous_variant	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35037089T>C	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.444A>G	5.37:g.35037089T>C							p.E148E	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	4	644	-	all_lung(31;4.52e-05)		148					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	c.444A>G	CCDS3908.1																																																																																				0.493	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		19	96	0	0	0	1	0	19	96				
ADAM30	11085	broad.mit.edu	37	1	120437783	120437783	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:120437783G>T	ENST00000369400.1	-	1	1335	c.1177C>A	c.(1177-1179)Cca>Aca	p.P393T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	393	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTAGTCCTGGGATATTATTT	0.413																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1177-1179)Cca>Aca		ADAM metallopeptidase domain 30							124.0	129.0	127.0					1																	120437783		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437783G>T	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1177C>A	1.37:g.120437783G>T	ENSP00000358407:p.Pro393Thr						p.P393T	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1335	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	393			Peptidase M12B.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1177C>A	CCDS907.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559483	0.45590	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.71698	-0.59	4.88	3.02	0.34903	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.46758	D	0.000280	T	0.77384	0.4122	M	0.92077	3.27	0.09310	N	1	D	0.55385	0.971	P	0.62014	0.897	T	0.70784	-0.4778	10	0.66056	D	0.02	.	7.4575	0.27274	0.1944:0.0:0.8056:0.0	.	393	Q9UKF2	ADA30_HUMAN	T	393	ENSP00000358407:P393T	ENSP00000358407:P393T	P	-	1	0	ADAM30	120239306	1.000000	0.71417	0.021000	0.16686	0.098000	0.18820	4.638000	0.61353	0.661000	0.30985	0.563000	0.77884	CCA		0.413	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		30	92	1	0	2.65835e-16	1	4.0699e-16	30	92				
DCAF8L1	139425	broad.mit.edu	37	X	27998581	27998581	+	Missense_Mutation	SNP	C	C	T	rs369821812		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:27998581C>T	ENST00000441525.1	-	1	985	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	291										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGAGCCAACTCGTGGGCAGGT	0.512																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(871-873)Gag>Aag		DDB1 and CUL4 associated factor 8-like 1		C	LYS/GLU	0,3833		0,0,1631,571	79.0	69.0	72.0		871	-1.7	0.8	X		72	1,6727		0,1,2427,1872	no	missense	DCAF8L1	NM_001017930.1	56	0,1,4058,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	291/601	27998581	1,10560	2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998581C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.871G>A	X.37:g.27998581C>T	ENSP00000405222:p.Glu291Lys						p.E291K	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	985	-			291					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.871G>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	1.350	-0.591574	0.03799	0.0	1.49E-4	ENSG00000226372	ENST00000441525	T	0.80824	-1.42	0.842	-1.68	0.08212	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.115064	0.56097	N	0.000024	T	0.32406	0.0828	N	0.00150	-1.985	0.26142	N	0.980261	B	0.09022	0.002	B	0.04013	0.001	T	0.53479	-0.8433	10	0.02654	T	1	-6.895	4.369	0.11239	0.0:0.256:0.0:0.744	.	291	A6NGE4	DC8L1_HUMAN	K	291	ENSP00000405222:E291K	ENSP00000405222:E291K	E	-	1	0	DCAF8L1	27908502	1.000000	0.71417	0.837000	0.33122	0.274000	0.26718	0.376000	0.20535	-0.380000	0.07894	-0.739000	0.03532	GAG		0.512	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		17	34	0	0	0	1	0	17	34				
SUSD5	26032	broad.mit.edu	37	3	33194832	33194832	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:33194832A>C	ENST00000309558.3	-	5	1709	c.1292T>G	c.(1291-1293)aTg>aGg	p.M431R		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	431					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTATGGGTCATGCCCTCGCT	0.512																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1291-1293)aTg>aGg		sushi domain containing 5							71.0	75.0	73.0					3																	33194832		2020	4170	6190	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194832A>C	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1292T>G	3.37:g.33194832A>C	ENSP00000308727:p.Met431Arg						p.M431R	NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN			5	1709	-			431						Missense_Mutation	SNP	ENST00000309558.3	37	c.1292T>G	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	A	6.088	0.384461	0.11524	.	.	ENSG00000173705	ENST00000309558	T	0.06933	3.24	5.82	-8.62	0.00881	.	1.298510	0.04566	N	0.392430	T	0.07413	0.0187	L	0.44542	1.39	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.25257	-1.0137	10	0.42905	T	0.14	-0.001	9.9225	0.41472	0.395:0.0:0.4993:0.1057	.	431	O60279	SUSD5_HUMAN	R	431	ENSP00000308727:M431R	ENSP00000308727:M431R	M	-	2	0	SUSD5	33169836	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.434000	0.34958	-2.057000	0.00897	-1.007000	0.02485	ATG		0.512	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		5	14	0	0	0	1	0	5	14				
SNHG14	104472715	broad.mit.edu	37	15	25326268	25326268	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:25326268C>A	ENST00000546682.1	+	0	0				SNORD116-15_ENST00000384445.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNORD116-14_ENST00000383894.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-13_ENST00000384408.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAACCCGTGTCATGAGGGATG	0.542																																						ENST00000549804.2																			0																																																			104472715							g.chr15:25326268C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25326268C>A														0	1408	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.542	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			4	7	1	0	2.56e-06	1	2.98069e-06	4	7				
GPR149	344758	broad.mit.edu	37	3	154055683	154055683	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:154055683C>T	ENST00000389740.2	-	4	2100	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	667					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGGCTGTTTCCCCTAGGTCAC	0.433																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1999-2001)ggG>ggA		G protein-coupled receptor 149							238.0	220.0	226.0					3																	154055683		1962	4157	6119	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055683C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.2001G>A	3.37:g.154055683C>T							p.G667G	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	2100	-			667						Silent	SNP	ENST00000389740.2	37	c.2001G>A	CCDS43162.1																																																																																				0.433	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		82	119	0	0	0	1	0	82	119				
IGHG2	3501	broad.mit.edu	37	14	106109690	106109690	+	RNA	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:106109690C>T	ENST00000390545.2	-	0	830							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGTCGGAGTCCAGCATGGGAG	0.587																																						ENST00000390545.2																			0																				169.0	199.0	189.0					14																	106109690		2011	4192	6203			3501							g.chr14:106109690C>T	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106109690C>T														0	830	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.587	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		47	399	0	0	0	1	0	47	399				
IGSF9B	22997	broad.mit.edu	37	11	133789689	133789689	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:133789689C>T	ENST00000321016.8	-	18	4161	c.3931G>A	c.(3931-3933)Ggg>Agg	p.G1311R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1311R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1311	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AATTCCTCCCCCGTCCTTCGA	0.677																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3931-3933)Ggg>Agg		immunoglobulin superfamily, member 9B							17.0	21.0	20.0					11																	133789689		1991	4142	6133	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133789689C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3931G>A	11.37:g.133789689C>T	ENSP00000317980:p.Gly1311Arg					IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1311R	p.G1311R			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	4161	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1311			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3931G>A		.	.	.	.	.	.	.	.	.	.	C	13.53	2.264574	0.39995	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65732	0.16;-0.17	4.93	4.93	0.64822	.	0.000000	0.44285	D	0.000475	T	0.41190	0.1148	N	0.14661	0.345	0.35490	D	0.798896	P	0.40476	0.718	B	0.33750	0.169	T	0.59182	-0.7502	10	0.72032	D	0.01	.	10.9056	0.47078	0.0:0.9112:0.0:0.0888	.	1311	Q9UPX0	TUTLB_HUMAN	R	1311;1153	ENSP00000317980:G1311R;ENSP00000436552:G1153R	ENSP00000317980:G1311R	G	-	1	0	IGSF9B	133294899	1.000000	0.71417	0.986000	0.45419	0.744000	0.42396	3.260000	0.51523	2.566000	0.86566	0.555000	0.69702	GGG		0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	15	0	0	0	1	0	5	15				
AMMECR1	9949	broad.mit.edu	37	X	109441841	109441841	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:109441841G>A	ENST00000262844.5	-	6	1076	c.909C>T	c.(907-909)acC>acT	p.T303T	AMMECR1_ENST00000372059.2_Silent_p.T266T|AMMECR1_ENST00000372057.1_Silent_p.T180T	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	303	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CATAGCTCAGGGTCATCTTTT	0.448																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(907-909)acC>acT		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1							164.0	121.0	136.0					X																	109441841		2203	4300	6503	SO:0001819	synonymous_variant	9949							g.chrX:109441841G>A	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.909C>T	X.37:g.109441841G>A						AMMECR1_ENST00000372057.1_Silent_p.T180T|AMMECR1_ENST00000372059.2_Silent_p.T266T	p.T303T	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			6	1076	-			303			AMMECR1.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Silent	SNP	ENST00000262844.5	37	c.909C>T	CCDS14551.1																																																																																				0.448	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			13	20	0	0	0	1	0	13	20				
FLNA	2316	broad.mit.edu	37	X	153594929	153594929	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153594929C>A	ENST00000369850.3	-	7	1302		c.e7+1		FLNA_ENST00000360319.4_Splice_Site|FLNA_ENST00000422373.1_Splice_Site|FLNA_ENST00000344736.4_Splice_Site	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGGGCTCACCTTATGAGTC	0.632																																						ENST00000422373.1																			0				breast(6)	6						c.e7+1		filamin A, alpha							88.0	91.0	90.0					X																	153594929		2006	4147	6153	SO:0001630	splice_region_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153594929C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1065+1G>T	X.37:g.153594929C>A						FLNA_ENST00000360319.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site|FLNA_ENST00000344736.4_Splice_Site		NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			7	1314	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							E9KL45|Q5HY53|Q5HY55|Q8NF52	Splice_Site	SNP	ENST00000369850.3	37		CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531964	0.85812	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.843	0.85973	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLNA	153248123	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.643000	0.83403	2.000000	0.58554	0.525000	0.51046	.		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		Intron	15	76	1	0	1.3612e-06	1	1.60534e-06	15	76				
NWD1	284434	broad.mit.edu	37	19	16860285	16860285	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:16860285C>T	ENST00000552788.1	+	4	832	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	NWD1_ENST00000549814.1_Missense_Mutation_p.L278F|NWD1_ENST00000523826.1_Missense_Mutation_p.L72F|NWD1_ENST00000339803.6_Missense_Mutation_p.L143F|NWD1_ENST00000379808.3_Missense_Mutation_p.L278F|NWD1_ENST00000524140.2_Missense_Mutation_p.L278F			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	278							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCACCAGGTCCTCACACGCCT	0.607																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(832-834)Ctc>Ttc		NACHT and WD repeat domain containing 1							44.0	41.0	42.0					19																	16860285		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860285C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.832C>T	19.37:g.16860285C>T	ENSP00000447224:p.Leu278Phe					NWD1_ENST00000552788.1_Missense_Mutation_p.L278F|NWD1_ENST00000523826.1_Missense_Mutation_p.L72F|NWD1_ENST00000549814.1_Missense_Mutation_p.L278F|NWD1_ENST00000339803.6_Missense_Mutation_p.L143F|NWD1_ENST00000379808.3_Missense_Mutation_p.L278F	p.L278F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1250	+			278					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.832C>T		.	.	.	.	.	.	.	.	.	.	c	12.29	1.893114	0.33442	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57595	0.39;0.45;0.39;0.4;0.44;0.46	4.36	4.36	0.52297	.	0.356636	0.26927	N	0.021786	T	0.56247	0.1972	L	0.29908	0.895	0.25772	N	0.98483	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.981;0.998;0.997	T	0.46414	-0.9193	10	0.12103	T	0.63	-17.7947	12.7111	0.57089	0.0:1.0:0.0:0.0	.	278;278;143	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	F	143;278;278;278;72;278;143	ENSP00000428579:L278F;ENSP00000447548:L278F;ENSP00000369136:L278F;ENSP00000428955:L72F;ENSP00000447224:L278F;ENSP00000340159:L143F	ENSP00000340159:L143F	L	+	1	0	NWD1	16721285	0.992000	0.36948	0.608000	0.28969	0.043000	0.13939	1.921000	0.40035	2.143000	0.66587	0.643000	0.83706	CTC		0.607	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		5	22	0	0	0	1	0	5	22				
AHCTF1	25909	broad.mit.edu	37	1	247040480	247040480	+	Missense_Mutation	SNP	G	G	T	rs147399261		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247040480G>T	ENST00000391829.2	-	22	2908	c.2785C>A	c.(2785-2787)Cca>Aca	p.P929T	AHCTF1_ENST00000366508.1_Missense_Mutation_p.P964T|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P938T|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	929	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTGTAAATGGTAACTTCAGT	0.348																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(2890-2892)Cca>Aca		AT hook containing transcription factor 1		G	THR/PRO	0,4406		0,0,2203	107.0	108.0	108.0		2812	5.3	0.8	1	dbSNP_134	108	2,8598	2.2+/-6.3	0,2,4298	no	missense	AHCTF1	NM_015446.4	38	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	benign	938/2276	247040480	2,13004	2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247040480G>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2785C>A	1.37:g.247040480G>T	ENSP00000375705:p.Pro929Thr					AHCTF1_ENST00000391829.2_Missense_Mutation_p.P929T|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P938T	p.P964T			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		22	3026	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	929			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.2890C>A		.	.	.	.	.	.	.	.	.	.	G	11.90	1.776602	0.31411	0.0	2.33E-4	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.58797	0.31;0.31;0.31	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	L	0.52126	1.63	0.58432	D	0.999995	P;D	0.69078	0.946;0.997	P;P	0.62649	0.586;0.905	T	0.65413	-0.6174	10	0.40728	T	0.16	-15.9363	14.2907	0.66275	0.0:0.0:0.8514:0.1486	.	964;929	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	T	964;938;929	ENSP00000355464:P964T;ENSP00000355465:P938T;ENSP00000375705:P929T	ENSP00000355465:P938T	P	-	1	0	AHCTF1	245107103	1.000000	0.71417	0.758000	0.31321	0.117000	0.20001	7.204000	0.77872	2.673000	0.90976	0.585000	0.79938	CCA		0.348	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		18	67	1	0	4.96729e-08	1	6.13527e-08	18	67				
HSFY1P1	27437	broad.mit.edu	37	22	17308430	17308430	+	RNA	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:17308430A>T	ENST00000425038.1	+	0	67					NR_003607.1				heat shock transcription factor, Y-linked 1 pseudogene 1																		CTAAAGAATTACTTATTTGAG	0.413																																						ENST00000425038.1																			0																																																			27437							g.chr22:17308430A>T	AY026053		22q11.2	2010-08-04	2010-08-04	2010-08-04	ENSG00000229027	ENSG00000229027			1846	pseudogene	pseudogene			"""cat eye syndrome chromosome region, candidate 8"", ""cat eye syndrome chromosome region, candidate 8 (non-protein coding)"""	CECR8		11381032	Standard	NR_003607		Approved	HSFYP1, HSFYL1	uc010gqr.1		OTTHUMG00000143727		22.37:g.17308430A>T								NR_003607.1						0	67	+									RNA	SNP	ENST00000425038.1	37																																																																																						0.413	HSFY1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000289790.2	NR_003607		4	17	0	0	0	1	0	4	17				
PAX1	5075	broad.mit.edu	37	20	21687041	21687041	+	Intron	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:21687041C>A	ENST00000398485.2	+	2	340				PAX1_ENST00000444366.2_Silent_p.S60S|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1						bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GTGTTTTCTCCCCCTCCGGCT	0.667																																						ENST00000444366.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(178-180)tcC>tcA		paired box 1							25.0	29.0	28.0					20																	21687041		2086	4196	6282	SO:0001627	intron_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687041C>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.287-35C>A	20.37:g.21687041C>A						PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron	p.S60S			P15863	PAX1_HUMAN			1	181	+			83					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	c.180C>A	CCDS13146.2																																																																																				0.667	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			14	60	1	0	1.15088e-07	1	1.40254e-07	14	60				
KPNA1	3836	broad.mit.edu	37	3	122145935	122145935	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:122145935C>T	ENST00000344337.6	-	14	1690	c.1514G>A	c.(1513-1515)gGg>gAg	p.G505E	KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	505					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATCTTCGGTCCCGAAGTAATG	0.433																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(1513-1515)gGg>gAg		karyopherin alpha 1 (importin alpha 5)							181.0	154.0	164.0					3																	122145935		2203	4300	6503	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122145935C>T	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1514G>A	3.37:g.122145935C>T	ENSP00000343701:p.Gly505Glu					KPNA1_ENST00000466923.1_5'UTR	p.G505E	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	14	1690	-			505					D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.1514G>A	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041459	0.55003	.	.	ENSG00000114030	ENST00000344337	T	0.26660	1.72	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.143115	0.64402	D	0.000005	T	0.40040	0.1101	M	0.62723	1.935	0.49582	D	0.999805	D	0.60160	0.987	P	0.51777	0.679	T	0.04537	-1.0944	10	0.35671	T	0.21	-7.0909	18.414	0.90562	0.0:1.0:0.0:0.0	.	505	P52294	IMA1_HUMAN	E	505	ENSP00000343701:G505E	ENSP00000343701:G505E	G	-	2	0	KPNA1	123628625	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.585000	0.53943	2.827000	0.97445	0.650000	0.86243	GGG		0.433	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		12	59	0	0	0	1	0	12	59				
GPR50	9248	broad.mit.edu	37	X	150349070	150349070	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:150349070C>A	ENST00000218316.3	+	2	1084	c.1015C>A	c.(1015-1017)Cgt>Agt	p.R339S	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	339	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCGCGCCCGTGCCCATGC	0.577																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1015-1017)Cgt>Agt		G protein-coupled receptor 50							97.0	100.0	99.0					X																	150349070		2117	4207	6324	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349070C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1015C>A	X.37:g.150349070C>A	ENSP00000218316:p.Arg339Ser						p.R339S	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1084	+	Acute lymphoblastic leukemia(192;6.56e-05)		339			Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1015C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893919	0.52121	.	.	ENSG00000102195	ENST00000218316	T	0.58652	0.32	4.24	3.29	0.37713	.	0.192444	0.26048	N	0.026650	T	0.34803	0.0910	N	0.24115	0.695	0.26066	N	0.981285	P	0.38827	0.649	B	0.28305	0.088	T	0.26292	-1.0107	10	0.39692	T	0.17	-6.6066	9.1245	0.36807	0.0:0.5649:0.4351:0.0	.	339	Q13585	MTR1L_HUMAN	S	339	ENSP00000218316:R339S	ENSP00000218316:R339S	R	+	1	0	GPR50	150099728	0.003000	0.15002	0.889000	0.34880	0.145000	0.21501	1.135000	0.31454	1.860000	0.53959	0.468000	0.43344	CGT		0.577	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		53	141	1	0	9.72345e-25	1	1.59555e-24	53	141				
ZFP82	284406	broad.mit.edu	37	19	36884837	36884837	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36884837T>C	ENST00000392161.3	-	5	647	c.405A>G	c.(403-405)gaA>gaG	p.E135E	ZFP82_ENST00000392171.1_Silent_p.E135E	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	135					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(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAAGTATCCTTCTTGAGGTC	0.383																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(403-405)gaA>gaG		ZFP82 zinc finger protein							123.0	116.0	118.0					19																	36884837		2203	4300	6503	SO:0001819	synonymous_variant	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884837T>C	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.405A>G	19.37:g.36884837T>C						ZFP82_ENST00000392171.1_Silent_p.E135E	p.E135E	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	647	-			135					Q8NC63|Q8TF53	Silent	SNP	ENST00000392161.3	37	c.405A>G	CCDS12493.1																																																																																				0.383	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		15	52	0	0	0	1	0	15	52				
ZNF583	147949	broad.mit.edu	37	19	56935052	56935052	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56935052A>G	ENST00000333201.9	+	5	1235	c.1025A>G	c.(1024-1026)cAt>cGt	p.H342R	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.H342R	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTTGCTCAGCATCAGAGAATT	0.413																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1024-1026)cAt>cGt		zinc finger protein 583							118.0	125.0	123.0					19																	56935052		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935052A>G	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1025A>G	19.37:g.56935052A>G	ENSP00000388502:p.His342Arg					ZNF583_ENST00000291598.7_Missense_Mutation_p.H342R|ZNF583_ENST00000585612.1_3'UTR	p.H342R	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1235	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	342					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1025A>G	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076617	0.76415	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	D;D	0.86865	-2.18;-2.18	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000318	D	0.95733	0.8612	H	0.98089	4.145	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	D	0.96861	0.9632	9	.	.	.	.	12.8899	0.58066	1.0:0.0:0.0:0.0	.	342	Q96ND8	ZN583_HUMAN	R	342	ENSP00000291598:H342R;ENSP00000388502:H342R	.	H	+	2	0	ZNF583	61626864	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	8.671000	0.91174	1.953000	0.56701	0.379000	0.24179	CAT		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		21	97	0	0	0	1	0	21	97				
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077425	32077425	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:32077425C>A	ENST00000354689.6	+	0	40				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		CTTGGTACAGCCTGGGGGGTC	0.577																																						ENST00000354689.6																			0																																																			28307							g.chr16:32077425C>A	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077425C>A						RP11-1166P10.6_ENST00000566806.1_RNA								0	40	+									RNA	SNP	ENST00000354689.6	37			.	.	.	.	.	.	.	.	.	.	C	2.887	-0.230422	0.05983	.	.	ENSG00000198229	ENST00000354689	.	.	.	.	.	.	.	.	.	.	.	T	0.46698	0.1406	.	.	.	.	.	.	.	.	.	.	.	.	T	0.55742	-0.8093	3	0.87932	D	0	.	5.89	0.18904	0.0:0.9992:0.0:8.0E-4	.	.	.	.	T	14	.	ENSP00000346720:P14T	P	+	1	0	AC142381.1	31984926	0.997000	0.39634	0.145000	0.22337	0.146000	0.21551	3.242000	0.51384	0.107000	0.17824	0.109000	0.15622	CCT		0.577	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			39	219	1	0	4.16155e-14	1	6.08584e-14	39	219				
BEST3	144453	broad.mit.edu	37	12	70065252	70065252	+	Silent	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70065252A>C	ENST00000330891.5	-	9	1282	c.1056T>G	c.(1054-1056)gcT>gcG	p.A352A	BEST3_ENST00000488961.1_Silent_p.A139A|BEST3_ENST00000476098.1_Silent_p.A139A|BEST3_ENST00000331471.4_Silent_p.A352A|BEST3_ENST00000553096.1_Silent_p.A246A	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	352					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCAGTAGTCAGCAGCTGCCA	0.448																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1054-1056)gcT>gcG		bestrophin 3							108.0	106.0	107.0					12																	70065252		1995	4203	6198	SO:0001819	synonymous_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70065252A>C	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1056T>G	12.37:g.70065252A>C						BEST3_ENST00000331471.4_Silent_p.A352A|BEST3_ENST00000553096.1_Silent_p.A246A|BEST3_ENST00000488961.1_Silent_p.A139A|BEST3_ENST00000476098.1_Silent_p.A139A	p.A352A	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		9	1282	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		352					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Silent	SNP	ENST00000330891.5	37	c.1056T>G	CCDS8992.2																																																																																				0.448	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		17	48	0	0	0	1	0	17	48				
OR10W1	81341	broad.mit.edu	37	11	58034996	58034996	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:58034996T>A	ENST00000395079.2	-	1	736	c.335A>T	c.(334-336)gAc>gTc	p.D112V		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CACATAGCGGTCATAGGCCAT	0.532																																						ENST00000395079.2																			0				kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26						c.(334-336)gAc>gTc		olfactory receptor, family 10, subfamily W, member 1							109.0	82.0	91.0					11																	58034996		2201	4295	6496	SO:0001583	missense	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58034996T>A	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.335A>T	11.37:g.58034996T>A	ENSP00000378516:p.Asp112Val						p.D112V	NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN			1	736	-		Breast(21;0.0589)	112					A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.335A>T	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047414	0.75846	.	.	ENSG00000172772	ENST00000395079	T	0.18338	2.22	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.62684	0.2448	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79960	-0.1583	10	0.87932	D	0	.	15.8206	0.78638	0.0:0.0:0.0:1.0	.	112	Q8NGF6	O10W1_HUMAN	V	112	ENSP00000378516:D112V	ENSP00000378516:D112V	D	-	2	0	OR10W1	57791572	1.000000	0.71417	0.954000	0.39281	0.541000	0.35023	7.969000	0.87988	2.215000	0.71742	0.533000	0.62120	GAC		0.532	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374		17	39	0	0	0	1	0	17	39				
TNFRSF10A	8797	broad.mit.edu	37	8	23049474	23049474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:23049474C>T	ENST00000221132.3	-	10	1204	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	RP11-1149O23.2_ENST00000518308.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	380	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TGAGCTGGTCCCAGGAGTCAA	0.522																																						ENST00000221132.3																			0				NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(1138-1140)tgG>tgA		tumor necrosis factor receptor superfamily, member 10a							97.0	81.0	86.0					8																	23049474		2203	4300	6503	SO:0001587	stop_gained	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23049474C>T	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1140G>A	8.37:g.23049474C>T	ENSP00000221132:p.Trp380*						p.W380*	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	10	1204	-		Prostate(55;0.0421)|Breast(100;0.14)	380			Death.		A8K5I4|Q53Y72|Q96E62	Nonsense_Mutation	SNP	ENST00000221132.3	37	c.1140G>A	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264559	0.59431	.	.	ENSG00000104689	ENST00000221132	.	.	.	3.58	3.58	0.41010	.	0.458052	0.22527	U	0.058882	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5417	0.45037	0.0:1.0:0.0:0.0	.	.	.	.	X	380	.	ENSP00000221132:W380X	W	-	3	0	TNFRSF10A	23105419	0.334000	0.24739	0.089000	0.20774	0.010000	0.07245	2.659000	0.46741	1.810000	0.52873	0.462000	0.41574	TGG		0.522	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		22	36	0	0	0	1	0	22	36				
SYNE1	23345	broad.mit.edu	37	6	152639309	152639309	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:152639309C>A	ENST00000367255.5	-	86	17080	c.16479G>T	c.(16477-16479)ctG>ctT	p.L5493L	SYNE1_ENST00000423061.1_Silent_p.L5422L|SYNE1_ENST00000448038.1_Silent_p.L5422L|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000356820.4_Silent_p.L17L|SYNE1_ENST00000265368.4_Silent_p.L5493L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5493					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGGCTTACCCAGTTGGCCAT	0.448										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(16477-16479)ctG>ctT		spectrin repeat containing, nuclear envelope 1							211.0	184.0	193.0					6																	152639309		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152639309C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16479G>T	6.37:g.152639309C>A		HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Silent_p.L5422L|SYNE1_ENST00000448038.1_Silent_p.L5422L|SYNE1_ENST00000356820.4_Silent_p.L17L|SYNE1_ENST00000265368.4_Silent_p.L5493L	p.L5493L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	86	17080	-		Ovarian(120;0.0955)	5493					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.16479G>T	CCDS5236.2																																																																																				0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		25	76	1	0	5.61819e-17	1	8.67403e-17	25	76				
GUCD1	83606	broad.mit.edu	37	22	24943883	24943883	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:24943883T>C	ENST00000407471.3	-	3	477	c.287A>G	c.(286-288)aAg>aGg	p.K96R	GUCD1_ENST00000435822.1_Missense_Mutation_p.K96R|GUCD1_ENST00000447813.2_Missense_Mutation_p.K96R|GUCD1_ENST00000404664.3_Missense_Mutation_p.K152R|GUCD1_ENST00000490922.1_5'UTR|GUCD1_ENST00000402766.1_Missense_Mutation_p.K96R	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	96																	CACCTGGTTCTTGTAGCCCTT	0.592																																						ENST00000435822.1																			0											c.(286-288)aAg>aGg		guanylyl cyclase domain containing 1							103.0	82.0	89.0					22																	24943883		2203	4300	6503	SO:0001583	missense	83606							g.chr22:24943883T>C	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 13"""	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.287A>G	22.37:g.24943883T>C	ENSP00000386076:p.Lys96Arg					GUCD1_ENST00000404664.3_Missense_Mutation_p.K152R|GUCD1_ENST00000407471.3_Missense_Mutation_p.K96R|GUCD1_ENST00000447813.2_Missense_Mutation_p.K96R|GUCD1_ENST00000490922.1_5'UTR|GUCD1_ENST00000402766.1_Missense_Mutation_p.K96R	p.K96R	NM_031444.2	NP_113632.2					3	611	-								B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	37	c.287A>G	CCDS33621.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098396	0.37048	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664;ENST00000447813;ENST00000402766;ENST00000407973	.	.	.	5.28	1.52	0.23074	.	0.397141	0.26620	N	0.023363	T	0.28267	0.0698	N	0.05574	-0.02	0.34702	D	0.726888	B;B;B;B;B	0.16166	0.011;0.003;0.016;0.001;0.002	B;B;B;B;B	0.20184	0.028;0.015;0.022;0.003;0.006	T	0.19516	-1.0303	9	0.22109	T	0.4	-28.6918	9.5966	0.39578	0.0:0.2406:0.0:0.7594	.	96;152;160;96;96	E9PGZ7;B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;.;CV013_HUMAN	R	96;96;152;96;96;96	.	ENSP00000381297:K96R	K	-	2	0	C22orf13	23273883	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	1.539000	0.36104	0.339000	0.23719	0.533000	0.62120	AAG		0.592	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444		21	54	0	0	0	1	0	21	54				
HTR7	3363	broad.mit.edu	37	10	92508721	92508721	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:92508721G>C	ENST00000336152.3	-	2	1196	c.1170C>G	c.(1168-1170)gaC>gaG	p.D390E	HTR7_ENST00000371719.2_Missense_Mutation_p.D390E|HTR7_ENST00000277874.6_Missense_Mutation_p.D390E|HTR7_ENST00000371721.3_Missense_Mutation_p.D390E	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	390					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TGGTCCTCAGGTCCCGGTTGA	0.532																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1168-1170)gaC>gaG		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						148.0	154.0	152.0					10																	92508721		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508721G>C	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1170C>G	10.37:g.92508721G>C	ENSP00000337949:p.Asp390Glu					HTR7_ENST00000336152.3_Missense_Mutation_p.D390E|HTR7_ENST00000277874.6_Missense_Mutation_p.D390E|HTR7_ENST00000371719.2_Missense_Mutation_p.D390E	p.D390E			P34969	5HT7R_HUMAN			2	1412	-			390					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.1170C>G	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147466	0.57151	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	L	0.36672	1.1	0.47659	D	0.999484	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.22034	-1.0228	10	0.25751	T	0.34	.	12.7614	0.57367	0.0752:0.0:0.9248:0.0	.	390;390	P34969;P34969-2	5HT7R_HUMAN;.	E	390	ENSP00000337949:D390E;ENSP00000277874:D390E;ENSP00000360784:D390E;ENSP00000360786:D390E	ENSP00000277874:D390E	D	-	3	2	HTR7	92498701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.326000	0.33735	2.593000	0.87608	0.650000	0.86243	GAC		0.532	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		50	180	0	0	0	1	0	50	180				
COL11A1	1301	broad.mit.edu	37	1	103363709	103363709	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:103363709G>C	ENST00000370096.3	-	57	4586	c.4274C>G	c.(4273-4275)gCa>gGa	p.A1425G	COL11A1_ENST00000512756.1_Missense_Mutation_p.A1309G|COL11A1_ENST00000353414.4_Missense_Mutation_p.A1386G|COL11A1_ENST00000358392.2_Missense_Mutation_p.A1437G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1425	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATCTTGGCCTGCAGCTCCAGG	0.279																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4309-4311)gCa>gGa		collagen, type XI, alpha 1							20.0	21.0	21.0					1																	103363709		2193	4297	6490	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103363709G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4274C>G	1.37:g.103363709G>C	ENSP00000359114:p.Ala1425Gly					COL11A1_ENST00000353414.4_Missense_Mutation_p.A1386G|COL11A1_ENST00000512756.1_Missense_Mutation_p.A1309G|COL11A1_ENST00000370096.3_Missense_Mutation_p.A1425G	p.A1437G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	57	4627	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1425			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4310C>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305704	0.81247	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.9	5.9	0.94986	.	0.116368	0.56097	D	0.000021	D	0.95617	0.8575	M	0.62016	1.91	0.49798	D	0.999825	B;B;D;B;B	0.55385	0.201;0.167;0.971;0.201;0.03	B;B;D;B;B	0.63033	0.197;0.124;0.91;0.197;0.055	D	0.95292	0.8396	10	0.72032	D	0.01	.	20.2552	0.98417	0.0:0.0:1.0:0.0	.	1309;1386;1437;1425;645	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	G	1425;1437;1386;645;1309	ENSP00000359114:A1425G;ENSP00000351163:A1437G;ENSP00000302551:A1386G;ENSP00000426533:A1309G	ENSP00000302551:A1386G	A	-	2	0	COL11A1	103136297	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.865000	0.87049	2.788000	0.95919	0.650000	0.86243	GCA		0.279	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		3	6	0	0	0	1	0	3	6				
SALL1	6299	broad.mit.edu	37	16	51175728	51175728	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:51175728G>T	ENST00000251020.4	-	2	438	c.405C>A	c.(403-405)agC>agA	p.S135R	SALL1_ENST00000440970.1_Missense_Mutation_p.S38R|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	135					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCCGCTGCCGCTTTTGTTAG	0.607																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(112-114)agC>agA		spalt-like transcription factor 1							51.0	54.0	53.0					16																	51175728		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175728G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.405C>A	16.37:g.51175728G>T	ENSP00000251020:p.Ser135Arg					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S135R|SALL1_ENST00000566102.1_Intron	p.S38R	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	545	-		all_cancers(37;0.0322)	135					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.114C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	1.091	-0.663913	0.03428	.	.	ENSG00000103449	ENST00000251020;ENST00000440970	T;T	0.07216	3.27;3.21	5.21	0.674	0.17946	.	0.417557	0.32028	N	0.006691	T	0.04318	0.0119	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.19148	0.024	T	0.44772	-0.9306	10	0.18276	T	0.48	-5.6072	9.5931	0.39559	0.3744:0.0:0.6256:0.0	.	135	Q9NSC2	SALL1_HUMAN	R	135;38	ENSP00000251020:S135R;ENSP00000407914:S38R	ENSP00000251020:S135R	S	-	3	2	SALL1	49733229	0.042000	0.20092	0.002000	0.10522	0.096000	0.18686	0.562000	0.23531	0.091000	0.17302	0.555000	0.69702	AGC		0.607	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		32	39	1	0	3.1745e-13	1	4.51945e-13	32	39				
ZNF184	7738	broad.mit.edu	37	6	27420077	27420077	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:27420077T>G	ENST00000211936.6	-	6	1545	c.1261A>C	c.(1261-1263)Aat>Cat	p.N421H	ZNF184_ENST00000377419.1_Missense_Mutation_p.N421H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCACATTCATTGCATTCGTAC	0.413																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1261-1263)Aat>Cat		zinc finger protein 184							91.0	89.0	89.0					6																	27420077		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420077T>G	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1261A>C	6.37:g.27420077T>G	ENSP00000211936:p.Asn421His					ZNF184_ENST00000377419.1_Missense_Mutation_p.N421H	p.N421H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1545	-			421					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1261A>C	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332311	0.41297	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.18016	2.24;2.24	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000064	T	0.03783	0.0107	N	0.16833	0.445	0.09310	N	0.999999	B	0.33841	0.428	B	0.30251	0.113	T	0.17837	-1.0356	10	0.59425	D	0.04	.	8.4932	0.33112	0.1727:0.0:0.0:0.8273	.	421	Q99676	ZN184_HUMAN	H	421	ENSP00000211936:N421H;ENSP00000366636:N421H	ENSP00000211936:N421H	N	-	1	0	ZNF184	27528056	0.000000	0.05858	0.992000	0.48379	0.994000	0.84299	-0.750000	0.04808	2.214000	0.71695	0.533000	0.62120	AAT		0.413	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		24	50	0	0	0	1	0	24	50				
SNHG14	104472715	broad.mit.edu	37	15	25474171	25474171	+	RNA	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:25474171G>C	ENST00000453082.2	+	0	1370				SNORD115-33_ENST00000363723.1_RNA|SNORD115-32_ENST00000364079.1_RNA|SNORD115-31_ENST00000365318.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TAAAAATCATGTTCAATAGGA	0.493																																						ENST00000453082.2																			0																				319.0	348.0	339.0					15																	25474171		873	1991	2864			104472715							g.chr15:25474171G>C			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25474171G>C						SNORD115-32_ENST00000364079.1_RNA		NR_003343.1						0	1370	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.493	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			56	218	0	0	0	1	0	56	218				
IGHV3-64	28414	broad.mit.edu	37	14	107114180	107114180	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:107114180C>A	ENST00000454421.2	-	0	94									immunoglobulin heavy variable 3-64																		AAACCCAGCTCAGCCCAAACT	0.478																																						ENST00000454421.2																			0																				113.0	116.0	115.0					14																	107114180		1887	4113	6000			28414							g.chr14:107114180C>A	M99682		14q32.33	2012-02-08			ENSG00000223648	ENSG00000223648		"""Immunoglobulins / IGH locus"""	5617	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151971		14.37:g.107114180C>A														0	94	-									RNA	SNP	ENST00000454421.2	37																																																																																						0.478	IGHV3-64-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324617.1	NG_001019		36	148	1	0	1.30998e-17	1	2.03627e-17	36	148				
HTR1D	3352	broad.mit.edu	37	1	23519781	23519781	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:23519781A>T	ENST00000374619.1	-	1	1441	c.932T>A	c.(931-933)aTc>aAc	p.I311N	HTR1D_ENST00000314113.3_Missense_Mutation_p.I311N	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	311					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCAGCAGATGATAAAGGCCCC	0.547																																						ENST00000374619.1																			0				NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(931-933)aTc>aAc		5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)						133.0	125.0	128.0					1																	23519781		2203	4300	6503	SO:0001583	missense	3352				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	g.chr1:23519781A>T	M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.932T>A	1.37:g.23519781A>T	ENSP00000363748:p.Ile311Asn					HTR1D_ENST00000314113.3_Missense_Mutation_p.I311N	p.I311N	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	1	1441	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)	311						Missense_Mutation	SNP	ENST00000374619.1	37	c.932T>A	CCDS231.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674553	0.67928	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.75260	-0.92;-0.92	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90611	0.7056	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93576	0.6908	10	0.87932	D	0	.	14.5065	0.67755	1.0:0.0:0.0:0.0	.	311	P28221	5HT1D_HUMAN	N	311	ENSP00000313661:I311N;ENSP00000363748:I311N	ENSP00000313661:I311N	I	-	2	0	HTR1D	23392368	1.000000	0.71417	0.937000	0.37676	0.731000	0.41821	9.339000	0.96797	2.037000	0.60232	0.528000	0.53228	ATC		0.547	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864		25	89	0	0	0	1	0	25	89				
TMEM222	84065	broad.mit.edu	37	1	27661903	27661903	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:27661903C>T	ENST00000374076.4	+	6	611	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TMEM222_ENST00000608611.1_Silent_p.F158F	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	191						integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGCTGCCCTTCATCCTTCTCC	0.642																																						ENST00000374076.4																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(571-573)ttC>ttT		transmembrane protein 222							224.0	159.0	181.0					1																	27661903		2203	4300	6503	SO:0001819	synonymous_variant	84065					integral to membrane	protein binding	g.chr1:27661903C>T	AL136683	CCDS297.2	1p36.11	2008-07-07	2008-07-07	2008-07-07	ENSG00000186501	ENSG00000186501			25363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 160"""	C1orf160		11230166	Standard	NM_032125		Approved	DKFZP564D0478	uc001bnr.4	Q9H0R3	OTTHUMG00000004410	ENST00000374076.4:c.573C>T	1.37:g.27661903C>T							p.F191F	NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN			6	611	+			191					D3DPL6|Q53HD8|Q5FVE9	Silent	SNP	ENST00000374076.4	37	c.573C>T	CCDS297.2																																																																																				0.642	TMEM222-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012809.2	NM_032125		18	101	0	0	0	1	0	18	101				
RPS6KC1	26750	broad.mit.edu	37	1	213414047	213414047	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:213414047G>T	ENST00000366960.3	+	11	1378	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G398C|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G113C|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G198C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	410	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.G410S(2)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTCACAGGTGGCAAACTGTG	0.308																																						ENST00000366960.3																			2	Substitution - Missense(2)	p.G410S(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1228-1230)Ggc>Tgc		ribosomal protein S6 kinase, 52kDa, polypeptide 1							79.0	91.0	87.0					1																	213414047		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414047G>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1228G>T	1.37:g.213414047G>T	ENSP00000355927:p.Gly410Cys					RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.G113C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.G398C|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.G198C	p.G410C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1378	+			410			Protein kinase 1.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1228G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628714	0.46944	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.64	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.78526	-0.2170	10	0.87932	D	0	-1.6401	15.0811	0.72117	0.0686:0.0:0.9314:0.0	.	198;410;398	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	C	198;410;398;113	ENSP00000442306:G198C;ENSP00000355927:G410C;ENSP00000355926:G398C;ENSP00000439282:G113C	ENSP00000355926:G398C	G	+	1	0	RPS6KC1	211480670	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	9.040000	0.93783	1.515000	0.48885	0.557000	0.71058	GGC		0.308	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		22	77	1	0	1.87028e-06	1	2.1944e-06	22	77				
EPHA5	2044	broad.mit.edu	37	4	66509102	66509102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:66509102C>T	ENST00000273854.3	-	2	825	c.225G>A	c.(223-225)tgG>tgA	p.W75*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.W75*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.W75*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.W75*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	75	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GAAAAGCAATCCATCCCAGGT	0.333										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(223-225)tgG>tgA		EPH receptor A5							57.0	58.0	58.0					4																	66509102		2203	4300	6503	SO:0001587	stop_gained	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66509102C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.225G>A	4.37:g.66509102C>T	ENSP00000273854:p.Trp75*	TSP Lung(17;0.13)				EPHA5_ENST00000432638.2_Nonsense_Mutation_p.W75*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.W75*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.W75*	p.W75*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			2	825	-			75					Q7Z3F2	Nonsense_Mutation	SNP	ENST00000273854.3	37	c.225G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	43	10.363122	0.99391	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7788	0.96409	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000273854:W75X	W	-	3	0	EPHA5	66191697	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.151000	0.71806	2.749000	0.94314	0.460000	0.39030	TGG		0.333	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		5	36	0	0	0	1	0	5	36				
MKRN3	7681	broad.mit.edu	37	15	23811368	23811368	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:23811368G>T	ENST00000314520.3	+	1	915	c.439G>T	c.(439-441)Gcg>Tcg	p.A147S	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	147					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TAGCACGGCTGCGCACATCGA	0.637																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(439-441)Gcg>Tcg		makorin ring finger protein 3							31.0	33.0	32.0					15																	23811368		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811368G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.439G>T	15.37:g.23811368G>T	ENSP00000313881:p.Ala147Ser					MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	p.A147S	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	915	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	147						Missense_Mutation	SNP	ENST00000314520.3	37	c.439G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926160	0.34002	.	.	ENSG00000179455	ENST00000314520	T	0.31247	1.5	3.87	2.94	0.34122	.	0.316014	0.32120	N	0.006541	T	0.12347	0.0300	N	0.04746	-0.17	0.27276	N	0.958231	P	0.42908	0.793	B	0.41374	0.355	T	0.12528	-1.0544	10	0.10111	T	0.7	.	6.6436	0.22923	0.13:0.0:0.87:0.0	.	147	Q13064	MKRN3_HUMAN	S	147	ENSP00000313881:A147S	ENSP00000313881:A147S	A	+	1	0	MKRN3	21362461	1.000000	0.71417	0.952000	0.39060	0.294000	0.27393	3.583000	0.53928	1.194000	0.43101	0.655000	0.94253	GCG		0.637	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		10	39	1	0	7.48243e-07	1	8.90487e-07	10	39				
TFPT	29844	broad.mit.edu	37	19	54611361	54611361	+	Missense_Mutation	SNP	G	G	C	rs545448952|rs587767447		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:54611361G>C	ENST00000391759.1	-	5	1019	c.614C>G	c.(613-615)gCg>gGg	p.A205G	NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391757.1_Missense_Mutation_p.R193G|TFPT_ENST00000391758.1_Missense_Mutation_p.A196G	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	205					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TGGAGTCAGCGCATTTCCTGC	0.711			T	TCF3	pre-B ALL																																	ENST00000391759.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0				large_intestine(2)|lung(2)	4						c.(613-615)gCg>gGg		TCF3 (E2A) fusion partner (in childhood Leukemia)							52.0	56.0	55.0					19																	54611361		2203	4300	6503	SO:0001583	missense	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54611361G>C	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.614C>G	19.37:g.54611361G>C	ENSP00000375639:p.Ala205Gly					NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391757.1_Missense_Mutation_p.R193G|TFPT_ENST00000391758.1_Missense_Mutation_p.A196G	p.A205G	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN			5	1019	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		205						Missense_Mutation	SNP	ENST00000391759.1	37	c.614C>G	CCDS12878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.00|11.00	1.510478|1.510478	0.27036|0.27036	.|.	.|.	ENSG00000105619|ENSG00000105619	ENST00000391759;ENST00000391758|ENST00000391757	.|.	.|.	.|.	5.04|5.04	1.48|1.48	0.22813|0.22813	.|.	1.335750|.	0.04530|.	N|.	0.386159|.	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.19200|.	0.034|.	B|.	0.26094|.	0.066|.	T|T	0.18461|0.18461	-1.0336|-1.0336	8|6	.|0.87932	.|D	.|0	-3.6698|-3.6698	6.1138|6.1138	0.20116|0.20116	0.1859:0.2657:0.5484:0.0|0.1859:0.2657:0.5484:0.0	.|.	205|.	P0C1Z6|.	TFPT_HUMAN|.	G|G	205;196|193	.|.	.|ENSP00000375637:R193G	A|R	-|-	2|1	0|0	TFPT|TFPT	59303173|59303173	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.248000|0.248000	0.25809|0.25809	0.312000|0.312000	0.19397|0.19397	1.196000|1.196000	0.43129|0.43129	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.711	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		19	86	0	0	0	1	0	19	86				
SPHKAP	80309	broad.mit.edu	37	2	228881280	228881280	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:228881280C>G	ENST00000392056.3	-	7	4336	c.4290G>C	c.(4288-4290)caG>caC	p.Q1430H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q1430H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1430						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGTTTCAATCTGAATCAAAG	0.468																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4288-4290)caG>caC		SPHK1 interactor, AKAP domain containing							65.0	68.0	67.0					2																	228881280		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881280C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4290G>C	2.37:g.228881280C>G	ENSP00000375909:p.Gln1430His					SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q1430H	p.Q1430H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4336	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1430					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4290G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399870	0.42613	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12465	2.68;2.69	5.66	3.76	0.43208	.	0.104483	0.64402	D	0.000003	T	0.21962	0.0529	L	0.58101	1.795	0.47123	D	0.999321	P;P;P	0.51653	0.605;0.56;0.947	B;B;P	0.55508	0.18;0.132;0.777	T	0.05550	-1.0878	10	0.13853	T	0.58	.	10.3351	0.43846	0.0:0.7917:0.135:0.0733	.	461;1430;1430	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	H	1430	ENSP00000375909:Q1430H;ENSP00000339886:Q1430H	ENSP00000339886:Q1430H	Q	-	3	2	SPHKAP	228589524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.987000	0.29603	1.383000	0.46405	0.655000	0.94253	CAG		0.468	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		22	61	0	0	0	1	0	22	61				
TPM3P9	147804	broad.mit.edu	37	19	53945972	53945972	+	RNA	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53945972G>C	ENST00000424846.3	+	0	969				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		CGGGAAGGCTGCTTTCTCCTT	0.572																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945972G>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945972G>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.572	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		17	21	0	0	0	1	0	17	21				
IQSEC1	9922	broad.mit.edu	37	3	12966186	12966186	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:12966186G>A	ENST00000273221.4	-	4	1883	c.1667C>T	c.(1666-1668)cCc>cTc	p.P556L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	556	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCCCGACGGGCGTGTCGGG	0.652																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1666-1668)cCc>cTc		IQ motif and Sec7 domain 1							84.0	76.0	79.0					3																	12966186		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12966186G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.1667C>T	3.37:g.12966186G>A	ENSP00000273221:p.Pro556Leu						p.P556L	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			4	1883	-			556			SEC7.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.1667C>T	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966410	0.92855	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.78003	-1.14;-1.14	4.28	4.28	0.50868	SEC7-like (4);	0.000000	0.85682	D	0.000000	D	0.87382	0.6163	.	.	.	0.80722	D	1	P;D;D	0.63046	0.954;0.992;0.968	P;D;P	0.65773	0.904;0.938;0.858	D	0.89729	0.3925	9	0.87932	D	0	.	17.0636	0.86554	0.0:0.0:1.0:0.0	.	542;542;556	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	L	556;542;542	ENSP00000273221:P556L;ENSP00000402299:P542L	ENSP00000273221:P556L	P	-	2	0	IQSEC1	12941186	1.000000	0.71417	0.988000	0.46212	0.740000	0.42216	9.768000	0.98965	2.085000	0.62840	0.655000	0.94253	CCC		0.652	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		17	45	0	0	0	1	0	17	45				
BMP4	652	broad.mit.edu	37	14	54417051	54417051	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:54417051C>A	ENST00000245451.4	-	4	1319	c.926G>T	c.(925-927)cGg>cTg	p.R309L	BMP4_ENST00000559087.1_Missense_Mutation_p.R309L|BMP4_ENST00000558984.1_Missense_Mutation_p.R309L|BMP4_ENST00000417573.1_Missense_Mutation_p.R309L|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	309					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CGAGTGGCGCCGGCAGTTCTT	0.627																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(925-927)cGg>cTg		bone morphogenetic protein 4							48.0	45.0	46.0					14																	54417051		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417051C>A	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.926G>T	14.37:g.54417051C>A	ENSP00000245451:p.Arg309Leu					BMP4_ENST00000559087.1_Missense_Mutation_p.R309L|BMP4_ENST00000558984.1_Missense_Mutation_p.R309L|BMP4_ENST00000417573.1_Missense_Mutation_p.R309L	p.R309L	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	1319	-			309					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.926G>T	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549213	0.65311	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.63913	-0.07;-0.07	5.4	3.6	0.41247	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.77315	0.4112	H	0.95884	3.735	0.58432	D	0.999997	B	0.29136	0.234	B	0.40038	0.317	T	0.78881	-0.2029	10	0.87932	D	0	.	10.9492	0.47319	0.0:0.8508:0.0:0.1492	.	309	P12644	BMP4_HUMAN	L	309	ENSP00000245451:R309L;ENSP00000394165:R309L	ENSP00000245451:R309L	R	-	2	0	BMP4	53486801	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	4.738000	0.62073	0.864000	0.35578	0.563000	0.77884	CGG		0.627	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		16	54	1	0	1.52009e-12	1	2.12766e-12	16	54				
ZFAT	57623	broad.mit.edu	37	8	135622730	135622730	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:135622730G>A	ENST00000377838.3	-	4	791	c.617C>T	c.(616-618)gCa>gTa	p.A206V	ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000429442.2_Missense_Mutation_p.A194V|ZFAT_ENST00000520356.1_Missense_Mutation_p.A194V|ZFAT_ENST00000520727.1_Missense_Mutation_p.A194V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A194V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	206					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTTCGTGTGCAGTTAAAAC	0.512																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(580-582)gCa>gTa		zinc finger and AT hook domain containing							83.0	82.0	82.0					8																	135622730		1962	4127	6089	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135622730G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.617C>T	8.37:g.135622730G>A	ENSP00000367069:p.Ala206Val					ZFAT_ENST00000520214.1_Missense_Mutation_p.A194V|ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520356.1_Missense_Mutation_p.A194V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A194V|ZFAT_ENST00000377838.3_Missense_Mutation_p.A206V	p.A194V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		5	880	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		206					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.581C>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404313	0.83230	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000398946;ENST00000522257	T;T;T;T;T;T	0.51071	2.94;2.87;2.89;2.87;2.87;0.72	5.36	5.36	0.76844	.	0.066224	0.64402	D	0.000010	T	0.58278	0.2111	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.958;1.0;0.999	P;D;D	0.87578	0.475;0.998;0.991	T	0.51379	-0.8713	10	0.23302	T	0.38	-16.3818	18.0801	0.89440	0.0:0.0:1.0:0.0	.	194;194;206	E9PBN4;Q9P243-3;Q9P243	.;.;ZFAT_HUMAN	V	194;194;194;206;194;194;194;144	ENSP00000427879:A194V;ENSP00000427831:A194V;ENSP00000394501:A194V;ENSP00000367069:A206V;ENSP00000428483:A194V;ENSP00000429983:A144V	ENSP00000326997:A194V	A	-	2	0	ZFAT	135691912	1.000000	0.71417	0.953000	0.39169	0.945000	0.59286	5.323000	0.65858	2.498000	0.84270	0.655000	0.94253	GCA		0.512	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		8	60	0	0	0	1	0	8	60				
TENM1	10178	broad.mit.edu	37	X	123839068	123839068	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:123839068A>G	ENST00000371130.3	-	5	873	c.810T>C	c.(808-810)tcT>tcC	p.S270S	TENM1_ENST00000422452.2_Silent_p.S270S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	270	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGAAGATCGCAGAGGAACCAG	0.493																																						ENST00000422452.2																			0											c.(808-810)tcT>tcC		teneurin transmembrane protein 1							104.0	92.0	96.0					X																	123839068		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123839068A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.810T>C	X.37:g.123839068A>G						TENM1_ENST00000371130.3_Silent_p.S270S	p.S270S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					5	873	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.810T>C	CCDS14609.1																																																																																				0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		45	85	0	0	0	1	0	45	85				
EP300	2033	broad.mit.edu	37	22	41565564	41565564	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:41565564G>T	ENST00000263253.7	+	26	5449	c.4230G>T	c.(4228-4230)agG>agT	p.R1410S	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1410	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATGCTTGAGGACTGCAGTCT	0.328			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4228-4230)agG>agT		E1A binding protein p300							95.0	92.0	93.0					22																	41565564		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565564G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4230G>T	22.37:g.41565564G>T	ENSP00000263253:p.Arg1410Ser					RP1-85F18.6_ENST00000415054.1_RNA	p.R1410S	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			26	5449	+			1410					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4230G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188497	0.57909	.	.	ENSG00000100393	ENST00000263253	D	0.93763	-3.28	5.55	3.41	0.39046	.	0.000000	0.49305	D	0.000153	D	0.95570	0.8560	H	0.96333	3.805	0.42909	D	0.994257	P	0.41784	0.762	P	0.45377	0.478	D	0.94519	0.7725	10	0.87932	D	0	-10.862	8.6097	0.33795	0.2431:0.0:0.7569:0.0	.	1410	Q09472	EP300_HUMAN	S	1410	ENSP00000263253:R1410S	ENSP00000263253:R1410S	R	+	3	2	EP300	39895510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.482000	0.35486	0.647000	0.30713	0.557000	0.71058	AGG		0.328	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		12	29	1	0	7.03913e-09	1	8.93578e-09	12	29				
KRT75	9119	broad.mit.edu	37	12	52825337	52825337	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:52825337A>G	ENST00000252245.5	-	4	1080	c.860T>C	c.(859-861)gTc>gCc	p.V287A		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	287	Coil 1B.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGCATCAAAGACTGAGTGGAT	0.478																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(859-861)gTc>gCc		keratin 75							165.0	141.0	149.0					12																	52825337		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52825337A>G	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.860T>C	12.37:g.52825337A>G	ENSP00000252245:p.Val287Ala						p.V287A	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	4	1080	-			287			Coil 1B.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.860T>C	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.191333	0.38707	.	.	ENSG00000170454	ENST00000252245	D	0.89196	-2.48	5.95	5.95	0.96441	Filament (1);	0.822657	0.10382	N	0.681449	D	0.88164	0.6363	L	0.51914	1.62	0.22489	N	0.99906	B	0.31705	0.336	B	0.34991	0.193	T	0.81758	-0.0786	10	0.87932	D	0	.	14.1568	0.65422	1.0:0.0:0.0:0.0	.	287	O95678	K2C75_HUMAN	A	287	ENSP00000252245:V287A	ENSP00000252245:V287A	V	-	2	0	KRT75	51111604	1.000000	0.71417	0.802000	0.32245	0.095000	0.18619	6.727000	0.74764	2.279000	0.76181	0.533000	0.62120	GTC		0.478	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		19	65	0	0	0	1	0	19	65				
RAB3IP	117177	broad.mit.edu	37	12	70150373	70150373	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70150373G>T	ENST00000247833.7	+	3	816	c.440G>T	c.(439-441)aGc>aTc	p.S147I	RAB3IP_ENST00000483530.2_Missense_Mutation_p.S147I|RAB3IP_ENST00000362025.5_Missense_Mutation_p.S163I|RAB3IP_ENST00000550536.1_Missense_Mutation_p.S163I|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S147I					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CGTTTACGAAGCCCATCTGTT	0.398																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(487-489)aGc>aTc		RAB3A interacting protein							186.0	177.0	180.0					12																	70150373		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70150373G>T		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.440G>T	12.37:g.70150373G>T	ENSP00000247833:p.Ser147Ile					RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S147I|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S147I|RAB3IP_ENST00000362025.5_Missense_Mutation_p.S163I|RAB3IP_ENST00000247833.7_Missense_Mutation_p.S147I	p.S163I	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		3	945	+	Esophageal squamous(21;0.187)		163						Missense_Mutation	SNP	ENST00000247833.7	37	c.488G>T	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.975121|4.975121	0.92919|0.92919	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000550647|ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025;ENST00000547055	.|T;T	.|0.57273	.|0.43;0.41	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66771|0.66771	0.2823|0.2823	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.998;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.991;1.0;0.997	T|T	0.67225|0.67225	-0.5724|-0.5724	5|10	.|0.66056	.|D	.|0.02	.|.	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|163;163;147;147	.|Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.|.;RAB3I_HUMAN;.;.	N|I	36|147;147;147;147;163;163;24	.|ENSP00000247833:S147I;ENSP00000447300:S163I	.|ENSP00000247833:S147I	K|S	+|+	3|2	2|0	RAB3IP|RAB3IP	68436640|68436640	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.176000|6.176000	0.71955|0.71955	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	AAG|AGC		0.398	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		25	104	1	0	9.57634e-11	1	1.27221e-10	25	104				
SGMS1-AS1	104355295	broad.mit.edu	37	10	52389345	52389345	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:52389345C>A	ENST00000443374.2	+	0	534				RP11-50E11.3_ENST00000609579.1_RNA																							AGCAGTGGTGCCCTCGGGTTC	0.488																																						ENST00000443374.1																			0																																																			104355295							g.chr10:52389345C>A																													10.37:g.52389345C>A														0	38	+									RNA	SNP	ENST00000443374.2	37																																																																																						0.488	RP11-50E11.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048071.2			12	36	1	0	3.07112e-06	1	3.55317e-06	12	36				
CEP290	80184	broad.mit.edu	37	12	88478512	88478512	+	Missense_Mutation	SNP	T	T	C	rs200817579		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:88478512T>C	ENST00000552810.1	-	35	4898	c.4555A>G	c.(4555-4557)Ata>Gta	p.I1519V	CEP290_ENST00000309041.7_Missense_Mutation_p.I1521V|CEP290_ENST00000397838.3_Missense_Mutation_p.I579V|CEP290_ENST00000547691.2_Missense_Mutation_p.I579V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1519					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTCAGCTATGAGCTTTTCT	0.388																																						ENST00000552810.1																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						c.(4555-4557)Ata>Gta		centrosomal protein 290kDa							171.0	160.0	164.0					12																	88478512		1860	4098	5958	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88478512T>C	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4555A>G	12.37:g.88478512T>C	ENSP00000448012:p.Ile1519Val					CEP290_ENST00000397838.3_Missense_Mutation_p.I579V|CEP290_ENST00000309041.7_Missense_Mutation_p.I1521V|CEP290_ENST00000547691.2_Missense_Mutation_p.I579V	p.I1519V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			35	4898	-			1519					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.4555A>G	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974785	0.34848	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.66280	0.44;-0.2;-0.2;0.44	5.73	4.57	0.56435	.	0.218314	0.47852	D	0.000204	T	0.50188	0.1601	L	0.33485	1.01	0.32573	N	0.529544	B	0.20052	0.041	B	0.26416	0.069	T	0.54207	-0.8328	10	0.19590	T	0.45	.	12.031	0.53397	0.0:0.0:0.2741:0.7258	.	1519	O15078	CE290_HUMAN	V	579;1519;1521;579	ENSP00000446905:I579V;ENSP00000448012:I1519V;ENSP00000308021:I1521V;ENSP00000380938:I579V	ENSP00000308021:I1521V	I	-	1	0	CEP290	87002643	0.792000	0.28813	0.980000	0.43619	0.989000	0.77384	1.130000	0.31393	1.083000	0.41159	0.533000	0.62120	ATA		0.388	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		7	47	0	0	0	1	0	7	47				
CEP85L	387119	broad.mit.edu	37	6	118845052	118845052	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:118845052G>A	ENST00000368491.3	-	4	1673	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	CEP85L_ENST00000392500.3_Missense_Mutation_p.S354L|CEP85L_ENST00000368488.5_Missense_Mutation_p.S354L|CEP85L_ENST00000419517.2_Missense_Mutation_p.S351L|CEP85L_ENST00000360290.3_Missense_Mutation_p.S249L	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	351						centrosome (GO:0005813)|cytoplasm (GO:0005737)											ATAGCCAGGTGAATAACTTTG	0.299																																						ENST00000368491.3																			0											c.(1051-1053)tCa>tTa		centrosomal protein 85kDa-like							90.0	88.0	89.0					6																	118845052		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118845052G>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1052C>T	6.37:g.118845052G>A	ENSP00000357477:p.Ser351Leu					CEP85L_ENST00000392500.3_Missense_Mutation_p.S354L|CEP85L_ENST00000419517.2_Missense_Mutation_p.S351L|CEP85L_ENST00000368488.5_Missense_Mutation_p.S354L|CEP85L_ENST00000360290.3_Missense_Mutation_p.S249L	p.S351L	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			4	1673	-			351					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1052C>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474153	0.84640	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.25085	2.64;2.64;2.64;2.15;1.82;2.15	5.87	5.87	0.94306	.	0.317502	0.27198	N	0.020463	T	0.23611	0.0571	L	0.36672	1.1	0.36634	D	0.876444	D;D;P;P	0.56035	0.974;0.974;0.902;0.902	P;P;P;P	0.51415	0.669;0.52;0.52;0.52	T	0.01283	-1.1396	10	0.72032	D	0.01	-5.1971	17.1102	0.86673	0.0:0.0:1.0:0.0	.	354;351;354;351	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	L	351;354;354;354;249;351	ENSP00000357477:S351L;ENSP00000357474:S354L;ENSP00000392131:S354L;ENSP00000376288:S354L;ENSP00000353434:S249L;ENSP00000393317:S351L	ENSP00000353434:S249L	S	-	2	0	C6orf204	118951745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.996000	0.49449	2.779000	0.95612	0.591000	0.81541	TCA		0.299	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		10	51	0	0	0	1	0	10	51				
HOXA3	3200	broad.mit.edu	37	7	27149906	27149906	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:27149906C>A	ENST00000396352.4	-	2	553	c.354G>T	c.(352-354)gcG>gcT	p.A118A	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Silent_p.A118A	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	118	Pro-rich.				angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						gaggcgggggcgcggcagggg	0.736																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(352-354)gcG>gcT		homeobox A3							22.0	25.0	24.0					7																	27149906		2199	4296	6495	SO:0001819	synonymous_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27149906C>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.354G>T	7.37:g.27149906C>A						HOXA3_ENST00000317201.2_Silent_p.A118A|HOXA-AS2_ENST00000518088.1_RNA	p.A118A	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			2	553	-			118			Pro-rich.		A4D181	Silent	SNP	ENST00000396352.4	37	c.354G>T	CCDS5404.1																																																																																				0.736	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			7	23	1	0	0.00198382	1	0.00209136	7	23				
PPP6R3	55291	broad.mit.edu	37	11	68341629	68341629	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:68341629A>G	ENST00000393800.2	+	13	1650	c.1396A>G	c.(1396-1398)Aac>Gac	p.N466D	PPP6R3_ENST00000529710.1_Missense_Mutation_p.N415D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N234D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N466D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N415D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N466D|PPP6R3_ENST00000393799.2_Missense_Mutation_p.N466D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N466D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N466D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N466D	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	466					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAGGATAGCTAACTGTATCGT	0.438																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1396-1398)Aac>Gac		protein phosphatase 6, regulatory subunit 3							172.0	145.0	154.0					11																	68341629		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68341629A>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1396A>G	11.37:g.68341629A>G	ENSP00000377389:p.Asn466Asp					PPP6R3_ENST00000529710.1_Missense_Mutation_p.N415D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.N466D|PPP6R3_ENST00000393800.2_Missense_Mutation_p.N466D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.N466D|PPP6R3_ENST00000265636.5_Missense_Mutation_p.N415D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.N466D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.N466D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.N466D|PPP6R3_ENST00000534534.1_Missense_Mutation_p.N234D	p.N466D			Q5H9R7	PP6R3_HUMAN			13	1663	+			466					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.1396A>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.954018	0.92660	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.33654	1.5;1.5;1.4;1.68;1.69;1.47;1.51;1.57;1.57;1.67;1.55	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.84773	2.715	0.58432	D	0.999999	D;D;D;P;D;D;D;D	0.89917	0.993;0.999;0.987;0.875;1.0;0.975;0.999;1.0	D;D;P;P;D;D;D;D	0.85130	0.931;0.996;0.891;0.628;0.994;0.934;0.997;0.987	T	0.69503	-0.5128	10	0.52906	T	0.07	.	15.759	0.78063	1.0:0.0:0.0:0.0	.	178;234;415;466;466;466;466;415	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	D	466;466;234;466;466;466;466;415;415;466;202	ENSP00000377388:N466D;ENSP00000377389:N466D;ENSP00000434429:N234D;ENSP00000431415:N466D;ENSP00000265637:N466D;ENSP00000433058:N466D;ENSP00000377390:N466D;ENSP00000265636:N415D;ENSP00000437329:N415D;ENSP00000433565:N466D;ENSP00000436209:N202D	ENSP00000265636:N415D	N	+	1	0	PPP6R3	68098205	1.000000	0.71417	0.963000	0.40424	0.858000	0.48976	8.442000	0.90317	2.121000	0.65114	0.533000	0.62120	AAC		0.438	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		17	126	0	0	0	1	0	17	126				
KRTAP13-2	337959	broad.mit.edu	37	21	31744289	31744289	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:31744289G>T	ENST00000399889.2	-	1	268	c.243C>A	c.(241-243)taC>taA	p.Y81*		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	81	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TTCTGGGGCGGTAGCAGGAGG	0.602																																						ENST00000399889.2																			0				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						c.(241-243)taC>taA		keratin associated protein 13-2							60.0	60.0	60.0					21																	31744289		2203	4300	6503	SO:0001587	stop_gained	337959					intermediate filament		g.chr21:31744289G>T	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.243C>A	21.37:g.31744289G>T	ENSP00000382777:p.Tyr81*						p.Y81*	NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN			1	268	-			81			5 X 10 AA approximate repeats.			Nonsense_Mutation	SNP	ENST00000399889.2	37	c.243C>A	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252828	0.80135	.	.	ENSG00000182816	ENST00000399889	.	.	.	4.26	2.36	0.29203	.	0.195686	0.25148	N	0.032769	.	.	.	.	.	.	0.51233	D	0.999911	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4912	0.16777	0.1072:0.0:0.6952:0.1976	.	.	.	.	X	81	.	ENSP00000382777:Y81X	Y	-	3	2	KRTAP13-2	30666160	0.002000	0.14202	0.535000	0.28026	0.996000	0.88848	-0.121000	0.10643	0.464000	0.27142	0.655000	0.94253	TAC		0.602	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			23	54	1	0	4.26978e-12	1	5.88624e-12	23	54				
CLN3	1201	broad.mit.edu	37	16	28502858	28502858	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:28502858G>T	ENST00000569430.1	-	4	889	c.70C>A	c.(70-72)Cgg>Agg	p.R24R	CLN3_ENST00000357076.5_Silent_p.R24R|CLN3_ENST00000333496.9_Silent_p.R24R|CLN3_ENST00000567160.1_5'Flank|CLN3_ENST00000567963.1_Silent_p.R24R|CLN3_ENST00000357857.9_Intron|CLN3_ENST00000354630.5_Silent_p.R24R|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000568224.1_Intron|CLN3_ENST00000565316.1_Silent_p.R24R|CLN3_ENST00000360019.2_Silent_p.R24R|CLN3_ENST00000355477.5_Silent_p.R24R|CLN3_ENST00000357806.7_Silent_p.R24R|CLN3_ENST00000359984.7_Silent_p.R24R|CLN3_ENST00000395653.4_Intron			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	24					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AGAGGGAGCCGGGGCTCCGGG	0.647											OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000569430.1																			0				breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						c.(70-72)Cgg>Agg		ceroid-lipofuscinosis, neuronal 3							28.0	29.0	29.0					16																	28502858		2197	4300	6497	SO:0001819	synonymous_variant	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28502858G>T	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.70C>A	16.37:g.28502858G>T			OREG0023706	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	802	CLN3_ENST00000357076.5_Silent_p.R24R|CLN3_ENST00000359984.7_Silent_p.R24R|CLN3_ENST00000355477.5_Silent_p.R24R|CLN3_ENST00000568224.1_Intron|CLN3_ENST00000360019.2_Silent_p.R24R|CLN3_ENST00000357857.9_Intron|CLN3_ENST00000567963.1_Silent_p.R24R|CLN3_ENST00000357806.7_Silent_p.R24R|CLN3_ENST00000354630.5_Silent_p.R24R|CLN3_ENST00000333496.9_Silent_p.R24R|CLN3_ENST00000565316.1_Silent_p.R24R|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000395653.4_Intron	p.R24R			Q13286	CLN3_HUMAN			4	889	-			24					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Silent	SNP	ENST00000569430.1	37	c.70C>A	CCDS10632.1																																																																																				0.647	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			5	24	1	0	3.59834e-05	1	4.03049e-05	5	24				
EPHA6	285220	broad.mit.edu	37	3	97251359	97251359	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:97251359C>G	ENST00000514100.1	+	8	776	c.534C>G	c.(532-534)atC>atG	p.I178M	EPHA6_ENST00000442602.2_Missense_Mutation_p.I152M|EPHA6_ENST00000389672.5_Missense_Mutation_p.I786M|EPHA6_ENST00000502694.1_Missense_Mutation_p.I178M	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	692	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATCCAAACATCATTCGCCTAG	0.383																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(2356-2358)atC>atG		EPH receptor A6							65.0	65.0	65.0					3																	97251359		1894	4136	6030	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97251359C>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.534C>G	3.37:g.97251359C>G	ENSP00000421711:p.Ile178Met					EPHA6_ENST00000502694.1_Missense_Mutation_p.I178M|EPHA6_ENST00000514100.1_Missense_Mutation_p.I178M|EPHA6_ENST00000442602.2_Missense_Mutation_p.I152M	p.I786M	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			11	2396	+			691			Protein kinase.		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2358C>G		.	.	.	.	.	.	.	.	.	.	C	15.85	2.953947	0.53293	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;D	0.93189	-0.65;0.32;0.32;-3.18	5.85	4.01	0.46588	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.96685	0.8918	M	0.93808	3.46	0.45403	D	0.998389	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.961;0.999	D	0.95733	0.8776	9	0.87932	D	0	.	4.7251	0.12938	0.2953:0.5225:0.0:0.1823	.	152;691;178;178	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	M	786;178;178;152	ENSP00000374323:I786M;ENSP00000421711:I178M;ENSP00000423950:I178M;ENSP00000403100:I152M	ENSP00000374323:I786M	I	+	3	3	EPHA6	98734049	0.990000	0.36364	1.000000	0.80357	0.961000	0.63080	0.315000	0.19451	1.435000	0.47434	0.563000	0.77884	ATC		0.383	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		11	35	0	0	0	1	0	11	35				
DPPA2	151871	broad.mit.edu	37	3	109023458	109023458	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:109023458G>C	ENST00000478945.1	-	7	964	c.718C>G	c.(718-720)Cgc>Ggc	p.R240G		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	240					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AACTGCAGGCGTACCCAACCC	0.502																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(718-720)Cgc>Ggc		developmental pluripotency associated 2							79.0	72.0	75.0					3																	109023458		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109023458G>C	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.718C>G	3.37:g.109023458G>C	ENSP00000417710:p.Arg240Gly						p.R240G	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			7	964	-			240					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.718C>G	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768405	0.69878	.	.	ENSG00000163530	ENST00000478945	T	0.34275	1.37	5.2	5.2	0.72013	.	0.121143	0.38381	N	0.001712	T	0.49133	0.1539	L	0.50333	1.59	0.34155	D	0.667943	P	0.48230	0.907	P	0.57204	0.815	T	0.61874	-0.6973	10	0.72032	D	0.01	-10.527	14.0971	0.65029	0.0:0.0:1.0:0.0	.	240	Q7Z7J5	DPPA2_HUMAN	G	240	ENSP00000417710:R240G	ENSP00000417710:R240G	R	-	1	0	DPPA2	110506148	0.998000	0.40836	0.996000	0.52242	0.815000	0.46073	1.687000	0.37680	2.705000	0.92388	0.555000	0.69702	CGC		0.502	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		21	66	0	0	0	1	0	21	66				
SHROOM4	57477	broad.mit.edu	37	X	50350537	50350537	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:50350537G>T	ENST00000289292.7	-	6	3888	c.3605C>A	c.(3604-3606)cCa>cAa	p.P1202Q	SHROOM4_ENST00000376020.2_Missense_Mutation_p.P1202Q|SHROOM4_ENST00000460112.3_Missense_Mutation_p.P1086Q			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1202					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTGCTCTGCTGGGACACTTTG	0.552																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3604-3606)cCa>cAa		shroom family member 4							99.0	83.0	88.0					X																	50350537		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350537G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3605C>A	X.37:g.50350537G>T	ENSP00000289292:p.Pro1202Gln					SHROOM4_ENST00000460112.3_Missense_Mutation_p.P1086Q|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P1202Q	p.P1202Q	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3630	-	Ovarian(276;0.236)		1202					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.3605C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	8.609	0.888702	0.17540	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.30714	1.52;1.52;1.52	4.36	3.46	0.39613	Apx/shroom, ASD2 (1);	0.618125	0.15301	N	0.269650	T	0.29850	0.0746	N	0.22421	0.69	0.09310	N	1	P	0.48998	0.918	P	0.54210	0.745	T	0.05402	-1.0887	10	0.35671	T	0.21	.	8.306	0.32042	0.0:0.0:0.757:0.243	.	1202	Q9ULL8	SHRM4_HUMAN	Q	1202;1202;1086	ENSP00000289292:P1202Q;ENSP00000365188:P1202Q;ENSP00000421450:P1086Q	ENSP00000289292:P1202Q	P	-	2	0	SHROOM4	50367277	0.777000	0.28628	0.067000	0.19924	0.698000	0.40448	1.481000	0.35476	1.134000	0.42165	0.513000	0.50165	CCA		0.552	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		15	37	1	0	0.00400662	1	0.00418521	15	37				
CSDE1	7812	broad.mit.edu	37	1	115268984	115268984	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:115268984T>C	ENST00000358528.4	-	14	1914	c.1488A>G	c.(1486-1488)aaA>aaG	p.K496K	CSDE1_ENST00000369530.1_Silent_p.K511K|CSDE1_ENST00000534699.1_Silent_p.K496K|CSDE1_ENST00000530886.1_Silent_p.K366K|CSDE1_ENST00000339438.6_Silent_p.K465K|CSDE1_ENST00000261443.5_Silent_p.K465K|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000438362.2_Silent_p.K542K	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	496	CSD 6.				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)		CAGGCCTCTGTTTGTCACTAA	0.403																																						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.(1624-1626)aaA>aaG		cold shock domain containing E1, RNA-binding							74.0	75.0	75.0					1																	115268984		2203	4300	6503	SO:0001819	synonymous_variant	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115268984T>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.1488A>G	1.37:g.115268984T>C						CSDE1_ENST00000358528.4_Silent_p.K496K|CSDE1_ENST00000534699.1_Silent_p.K496K|CSDE1_ENST00000530886.1_Silent_p.K366K|CSDE1_ENST00000339438.6_Silent_p.K465K|CSDE1_ENST00000261443.5_Silent_p.K465K|CSDE1_ENST00000369530.1_Silent_p.K511K	p.K542K	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)	14	2004	-	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)	496			CSD 7.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	ENST00000358528.4	37	c.1626A>G	CCDS30812.1																																																																																				0.403	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		15	35	0	0	0	1	0	15	35				
JAZF1	221895	broad.mit.edu	37	7	28031598	28031598	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:28031598T>A	ENST00000283928.5	-	2	283	c.118A>T	c.(118-120)Aca>Tca	p.T40S		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	40					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CGTGGATCTGTATCTGTAATA	0.323			T	SUZ12	endometrial stromal tumours																																	ENST00000283928.5				Dom	yes		7	7p15.2-p15.1	221895	T	juxtaposed with another zinc finger gene 1			M	SUZ12		endometrial stromal tumours	JAZF1/SUZ12(133)	0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(118-120)Aca>Tca		JAZF zinc finger 1							100.0	103.0	102.0					7																	28031598		2203	4299	6502	SO:0001583	missense	221895				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	g.chr7:28031598T>A	BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.118A>T	7.37:g.28031598T>A	ENSP00000283928:p.Thr40Ser						p.T40S	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN			2	283	-			40					A4D195|Q8N3L7	Missense_Mutation	SNP	ENST00000283928.5	37	c.118A>T	CCDS5416.1	.	.	.	.	.	.	.	.	.	.	T	9.250	1.040552	0.19669	.	.	ENSG00000153814	ENST00000283928;ENST00000430432;ENST00000447620;ENST00000420835	D	0.85339	-1.97	5.88	5.88	0.94601	.	0.047441	0.85682	D	0.000000	T	0.81767	0.4892	N	0.08118	0	0.52501	D	0.999956	P	0.43578	0.811	P	0.57846	0.828	T	0.78513	-0.2175	10	0.10636	T	0.68	-8.5239	16.2792	0.82664	0.0:0.0:0.0:1.0	.	40	Q86VZ6	JAZF1_HUMAN	S	40;7;16;55	ENSP00000283928:T40S	ENSP00000283928:T40S	T	-	1	0	JAZF1	27998123	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.147000	0.71783	2.243000	0.73865	0.533000	0.62120	ACA		0.323	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250382.2	NM_175061		11	50	0	0	0	1	0	11	50				
RBM33	155435	broad.mit.edu	37	7	155503974	155503974	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:155503974G>A	ENST00000401878.3	+	8	1224	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	342	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCCGCTGCAGCCGCTGCTTC	0.667																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1024-1026)caG>caA		RNA binding motif protein 33							27.0	35.0	32.0					7																	155503974		2025	4189	6214	SO:0001819	synonymous_variant	155435						nucleotide binding|RNA binding	g.chr7:155503974G>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1026G>A	7.37:g.155503974G>A						RBM33_ENST00000486747.1_3'UTR	p.Q342Q	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	8	1224	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	342			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	c.1026G>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	G	2.375	-0.343331	0.05243	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.64483	0.2602	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62599	-0.6820	4	.	.	.	.	12.7029	0.57043	0.0859:0.0:0.9141:0.0	.	.	.	.	N	114	.	.	S	+	2	0	RBM33	155196735	1.000000	0.71417	0.997000	0.53966	0.156000	0.22039	4.090000	0.57693	2.479000	0.83701	0.557000	0.71058	AGC		0.667	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		21	53	0	0	0	1	0	21	53				
JAKMIP3	282973	broad.mit.edu	37	10	133976814	133976814	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:133976814G>C	ENST00000298622.4	+	19	2454	c.2316G>C	c.(2314-2316)aaG>aaC	p.K772N	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	772						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGAAGCTCAAGGTGGCCGTGG	0.652																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(2314-2316)aaG>aaC		Janus kinase and microtubule interacting protein 3							64.0	46.0	52.0					10																	133976814		2199	4296	6495	SO:0001583	missense	282973							g.chr10:133976814G>C	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2316G>C	10.37:g.133976814G>C	ENSP00000298622:p.Lys772Asn					JAKMIP3_ENST00000477275.1_3'UTR	p.K772N	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	19	2454	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.2316G>C	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132895	0.37630	.	.	ENSG00000188385	ENST00000298622	T	0.24908	1.83	3.77	2.81	0.32909	.	.	.	.	.	T	0.24547	0.0595	L	0.40543	1.245	0.18873	N	0.999986	P;B	0.46142	0.873;0.018	P;B	0.47346	0.544;0.025	T	0.06826	-1.0805	9	0.32370	T	0.25	.	7.177	0.25751	0.0938:0.1748:0.7313:0.0	.	209;772	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	N	772	ENSP00000298622:K772N	ENSP00000298622:K772N	K	+	3	2	JAKMIP3	133826804	0.998000	0.40836	0.993000	0.49108	0.832000	0.47134	2.731000	0.47343	0.853000	0.35312	0.460000	0.39030	AAG		0.652	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		7	18	0	0	0	1	0	7	18				
ZNF831	128611	broad.mit.edu	37	20	57769579	57769579	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57769579A>G	ENST00000371030.2	+	1	3505	c.3505A>G	c.(3505-3507)Agc>Ggc	p.S1169G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1169							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGTCCCCACAGCACCCAAAA	0.672																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3505-3507)Agc>Ggc		zinc finger protein 831							48.0	55.0	53.0					20																	57769579		2065	4171	6236	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769579A>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3505A>G	20.37:g.57769579A>G	ENSP00000360069:p.Ser1169Gly						p.S1169G	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3505	+	all_lung(29;0.0085)		1169					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3505A>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.175590	0.00312	.	.	ENSG00000124203	ENST00000371030	T	0.04502	3.61	0.158	0.158	0.14942	.	.	.	.	.	T	0.02156	0.0067	N	0.03608	-0.345	0.19575	N	0.999966	B	0.02656	0.0	B	0.01281	0.0	T	0.44112	-0.9349	9	0.56958	D	0.05	.	4.3502	0.11151	1.0:0.0:0.0:0.0	.	1169	Q5JPB2	ZN831_HUMAN	G	1169	ENSP00000360069:S1169G	ENSP00000360069:S1169G	S	+	1	0	ZNF831	57202974	0.270000	0.24152	0.013000	0.15412	0.022000	0.10575	1.013000	0.29937	0.175000	0.19841	0.172000	0.16884	AGC		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		31	90	0	0	0	1	0	31	90				
CLEC14A	161198	broad.mit.edu	37	14	38724166	38724166	+	Silent	SNP	C	C	A	rs200873816		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:38724166C>A	ENST00000342213.2	-	1	1408	c.1062G>T	c.(1060-1062)acG>acT	p.T354T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	354						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGGTAGACATCGTGCTCTGTG	0.493																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1060-1062)acG>acT		C-type lectin domain family 14, member A							104.0	80.0	88.0					14																	38724166		2203	4300	6503	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724166C>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1062G>T	14.37:g.38724166C>A							p.T354T	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1408	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		354					Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.1062G>T	CCDS9667.1																																																																																				0.493	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		15	68	1	0	8.60227e-14	1	1.25e-13	15	68				
ZNF701	55762	broad.mit.edu	37	19	53086180	53086180	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53086180G>T	ENST00000540331.1	+	5	1291	c.1066G>T	c.(1066-1068)Gca>Tca	p.A356S	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.A356S|ZNF701_ENST00000391785.3_Missense_Mutation_p.A290S	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGTTCACAAGGCAATTCATAC	0.408																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1066-1068)Gca>Tca		zinc finger protein 701							74.0	68.0	70.0					19																	53086180		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086180G>T	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1066G>T	19.37:g.53086180G>T	ENSP00000444339:p.Ala356Ser					CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.A290S|ZNF701_ENST00000301093.2_Missense_Mutation_p.A356S	p.A356S	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1291	+			290					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1066G>T	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984864	0.35036	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.18016	2.24;2.24;2.24	1.98	0.593	0.17478	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09642	0.0237	N	0.12182	0.205	0.19575	N	0.999967	B;B	0.31383	0.321;0.245	B;B	0.35550	0.205;0.14	T	0.33954	-0.9848	9	0.49607	T	0.09	.	5.4537	0.16578	0.6134:0.0:0.3866:0.0	.	356;290	F5GZM6;Q9NV72	.;ZN701_HUMAN	S	290;356;356	ENSP00000375662:A290S;ENSP00000301093:A356S;ENSP00000444339:A356S	ENSP00000301093:A356S	A	+	1	0	ZNF701	57777992	0.000000	0.05858	0.022000	0.16811	0.271000	0.26615	-0.613000	0.05610	-0.067000	0.12976	0.462000	0.41574	GCA		0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		9	43	1	0	5.16669e-11	1	6.93444e-11	9	43				
ALMS1	7840	broad.mit.edu	37	2	73717083	73717083	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:73717083A>T	ENST00000264448.6	+	10	8105	c.7994A>T	c.(7993-7995)aAa>aTa	p.K2665I	AC096546.1_ENST00000408160.1_RNA|ALMS1_ENST00000409009.1_Missense_Mutation_p.K2623I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2665					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAATCAGCAAAGGTCTTCGA	0.383																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(7993-7995)aAa>aTa		Alstrom syndrome 1							118.0	110.0	113.0					2																	73717083		1830	4082	5912	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73717083A>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7994A>T	2.37:g.73717083A>T	ENSP00000264448:p.Lys2665Ile					ALMS1_ENST00000409009.1_Missense_Mutation_p.K2623I	p.K2665I	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	8105	+			2665					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.7994A>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.253211	0.39797	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08720	3.06;3.06	4.45	-0.553	0.11815	.	0.913086	0.09258	N	0.826950	T	0.14184	0.0343	L	0.39898	1.24	0.22127	N	0.999343	D;D;D	0.61697	0.99;0.971;0.971	P;P;P	0.58454	0.839;0.839;0.839	T	0.27054	-1.0085	10	0.72032	D	0.01	.	7.3006	0.26418	0.6078:0.0:0.3922:0.0	.	2665;2623;2665	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	2623;2665	ENSP00000386627:K2623I;ENSP00000264448:K2665I	ENSP00000264448:K2665I	K	+	2	0	ALMS1	73570591	0.987000	0.35691	0.256000	0.24389	0.466000	0.32739	0.396000	0.20867	-0.085000	0.12573	-0.263000	0.10527	AAA		0.383	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		35	137	0	0	0	1	0	35	137				
TENM1	10178	broad.mit.edu	37	X	123554210	123554210	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:123554210C>A	ENST00000371130.3	-	24	4975	c.4912G>T	c.(4912-4914)Ggg>Tgg	p.G1638W	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.G1645W	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1638					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCCAGAAGCCCTGTGTTTCCT	0.413																																						ENST00000422452.2																			0											c.(4933-4935)Ggg>Tgg		teneurin transmembrane protein 1							108.0	99.0	102.0					X																	123554210		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123554210C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4912G>T	X.37:g.123554210C>A	ENSP00000360171:p.Gly1638Trp					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G1638W	p.G1645W	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					25	4996	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4933G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.208090	0.79240	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.91295	-2.82;-2.79	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95915	0.8670	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.96461	0.9341	10	0.87932	D	0	.	18.4568	0.90724	0.0:1.0:0.0:0.0	.	1644;1645;1638	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	W	1638;1645	ENSP00000360171:G1638W;ENSP00000403954:G1645W	ENSP00000360171:G1638W	G	-	1	0	ODZ1	123381891	1.000000	0.71417	0.618000	0.29105	0.984000	0.73092	7.802000	0.85969	2.299000	0.77371	0.553000	0.69018	GGG		0.413	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		15	67	1	0	3.32936e-07	1	4.00399e-07	15	67				
MLLT4	4301	broad.mit.edu	37	6	168226472	168226472	+	5'Flank	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:168226472G>T	ENST00000447894.2	+	0	0				MLLT4_ENST00000351017.4_5'Flank|MLLT4_ENST00000392108.3_5'Flank|MLLT4_ENST00000392112.1_5'Flank|MLLT4_ENST00000366806.2_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA|MLLT4_ENST00000400822.3_5'Flank|MLLT4_ENST00000344191.4_5'Flank			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGCAGCCCCGGGGCAATGCGC	0.657			T	MLL	AL																																	ENST00000359760.5				Dom	yes		6	6q27	4301		"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L					0																				26.0	36.0	32.0					6																	168226472		1957	4125	6082	SO:0001631	upstream_gene_variant	653483							g.chr6:168226472G>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168226472G>T	Exception_encountered							NR_027906.1						0	917	-								O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	ENST00000447894.2	37																																																																																						0.657	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		13	45	1	0	5.50884e-06	1	6.29385e-06	13	45				
MASP2	10747	broad.mit.edu	37	1	11106734	11106734	+	Silent	SNP	C	C	A	rs373246198		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:11106734C>A	ENST00000400897.3	-	3	306	c.291G>T	c.(289-291)acG>acT	p.T97T	MASP2_ENST00000400898.3_Silent_p.T97T	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	97	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGGCCCGCTCCGTGTCTGTGC	0.647																																					GBM(35;611 746 20780 22741 36496)	ENST00000400897.3																			0				biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(289-291)acG>acT		mannan-binding lectin serine peptidase 2							49.0	41.0	44.0					1																	11106734		2203	4300	6503	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11106734C>A	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.291G>T	1.37:g.11106734C>A						MASP2_ENST00000400898.3_Silent_p.T97T	p.T97T	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	3	306	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	97			CUB 1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.291G>T	CCDS123.1																																																																																				0.647	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		8	34	1	0	2.74318e-10	1	3.59207e-10	8	34				
AGXT	189	broad.mit.edu	37	2	241810830	241810830	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:241810830T>A	ENST00000307503.3	+	4	875	c.488T>A	c.(487-489)cTg>cAg	p.L163Q		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	163					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	ACCGGCGTGCTGCAGCCCCTT	0.667																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.(487-489)cTg>cAg		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						31.0	29.0	29.0					2																	241810830		2200	4297	6497	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241810830T>A	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.488T>A	2.37:g.241810830T>A	ENSP00000302620:p.Leu163Gln						p.L163Q	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	4	875	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	163					Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.488T>A	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	t	16.16	3.044861	0.55110	.	.	ENSG00000172482	ENST00000307503	D	0.87809	-2.3	4.1	4.1	0.47936	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.889113	0.09691	N	0.768438	D	0.91297	0.7256	M	0.64404	1.975	0.24636	N	0.993592	D;P	0.53151	0.958;0.732	P;P	0.61658	0.892;0.833	T	0.81671	-0.0827	10	0.42905	T	0.14	-2.5113	12.2952	0.54842	0.0:0.0:0.0:1.0	.	163;163	B7Z548;P21549	.;SPYA_HUMAN	Q	163	ENSP00000302620:L163Q	ENSP00000302620:L163Q	L	+	2	0	AGXT	241459503	0.050000	0.20438	0.540000	0.28089	0.810000	0.45777	1.499000	0.35671	1.497000	0.48584	0.378000	0.23410	CTG		0.667	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		5	13	0	0	0	1	0	5	13				
NRG3	10718	broad.mit.edu	37	10	83635400	83635400	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:83635400C>A	ENST00000404547.1	+	1	304	c.304C>A	c.(304-306)Cta>Ata	p.L102I	NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.L102I|NRG3_ENST00000404576.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	102					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCCCACCGACCTAGTGGACTC	0.602																																						ENST00000404547.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(304-306)Cta>Ata		neuregulin 3							82.0	79.0	80.0					10																	83635400		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635400C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.304C>A	10.37:g.83635400C>A	ENSP00000384796:p.Leu102Ile					NRG3_ENST00000372141.2_Missense_Mutation_p.L102I	p.L102I			P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	304	+			102					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.304C>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	c	13.10	2.136043	0.37728	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.36340	1.26;1.29	2.75	0.731	0.18277	.	.	.	.	.	T	0.36663	0.0975	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.72625	0.978;0.978	T	0.20773	-1.0265	9	0.27785	T	0.31	-30.6195	4.7542	0.13075	0.0:0.5618:0.0:0.4382	.	102;102	B9EGV5;P56975-4	.;.	I	102	ENSP00000361214:L102I;ENSP00000384796:L102I	ENSP00000361214:L102I	L	+	1	2	NRG3	83625380	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.279000	0.43435	0.463000	0.27118	0.459000	0.35465	CTA		0.602	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		12	41	1	0	0.0167234	1	0.0171358	12	41				
DMGDH	29958	broad.mit.edu	37	5	78322355	78322355	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:78322355C>A	ENST00000255189.3	-	13	2110	c.2082G>T	c.(2080-2082)ctG>ctT	p.L694L	DMGDH_ENST00000540686.1_Silent_p.L314L|DMGDH_ENST00000380311.4_Silent_p.L493L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	694					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TAGCGTCATACAGCGCCACAG	0.507																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2080-2082)ctG>ctT		dimethylglycine dehydrogenase							99.0	90.0	93.0					5																	78322355		2203	4300	6503	SO:0001819	synonymous_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78322355C>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2082G>T	5.37:g.78322355C>A						DMGDH_ENST00000540686.1_Silent_p.L314L|DMGDH_ENST00000380311.4_Silent_p.L493L	p.L694L	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	13	2110	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	694					B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	c.2082G>T	CCDS4044.1																																																																																				0.507	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		16	44	1	0	2.23348e-06	1	2.60716e-06	16	44				
CRB1	23418	broad.mit.edu	37	1	197390578	197390578	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:197390578C>A	ENST00000367400.3	+	6	1755	c.1620C>A	c.(1618-1620)ggC>ggA	p.G540G	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.G239G|CRB1_ENST00000535699.1_Silent_p.G471G|CRB1_ENST00000538660.1_Silent_p.G540G|CRB1_ENST00000367399.2_Silent_p.G428G|CRB1_ENST00000544212.1_Silent_p.G21G	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	540	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCTAAGTGGCTACATTCACT	0.443																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1618-1620)ggC>ggA		crumbs homolog 1 (Drosophila)							125.0	123.0	124.0					1																	197390578		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390578C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1620C>A	1.37:g.197390578C>A						CRB1_ENST00000544212.1_Silent_p.G21G|CRB1_ENST00000367399.2_Silent_p.G428G|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.G471G|CRB1_ENST00000538660.1_Silent_p.G540G|CRB1_ENST00000543483.1_Silent_p.G239G	p.G540G	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1755	+			540			Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1620C>A	CCDS1390.1																																																																																				0.443	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		12	74	1	0	0.00316338	1	0.00330816	12	74				
JUND	3727	broad.mit.edu	37	19	18391494	18391494	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:18391494C>A	ENST00000252818.3	-	1	938	c.801G>T	c.(799-801)gaG>gaT	p.E267D	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	267					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						CCTTGATGCGCTCCTGCGTGT	0.682																																						ENST00000252818.3																			0				lung(2)|prostate(1)	3						c.(799-801)gaG>gaT		jun D proto-oncogene							18.0	19.0	18.0					19																	18391494		2165	4233	6398	SO:0001583	missense	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391494C>A		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.801G>T	19.37:g.18391494C>A	ENSP00000252818:p.Glu267Asp						p.E267D	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN			1	938	-			267					Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.801G>T	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	19.18	3.777759	0.70107	.	.	ENSG00000130522	ENST00000252818	T	0.56444	0.46	3.16	0.896	0.19253	Basic-leucine zipper (bZIP) transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.063541	0.64402	N	0.000011	T	0.48642	0.1511	M	0.84219	2.685	0.46521	D	0.999089	B	0.12630	0.006	B	0.20184	0.028	T	0.46638	-0.9177	10	0.66056	D	0.02	.	2.4614	0.04542	0.2381:0.488:0.0:0.2739	.	267	P17535	JUND_HUMAN	D	267	ENSP00000252818:E267D	ENSP00000252818:E267D	E	-	3	2	JUND	18252494	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	2.129000	0.42055	0.166000	0.19597	-0.552000	0.04208	GAG		0.682	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		10	15	1	0	6.72482e-11	1	8.9599e-11	10	15				
BIRC8	112401	broad.mit.edu	37	19	53793392	53793392	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53793392T>C	ENST00000426466.1	-	1	1483	c.236A>G	c.(235-237)aAc>aGc	p.N79S		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	79					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		ATGAATGTTGTTTATATATTC	0.408																																						ENST00000426466.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(235-237)aAc>aGc		baculoviral IAP repeat containing 8							174.0	166.0	169.0					19																	53793392		2203	4300	6503	SO:0001583	missense	112401				apoptosis		zinc ion binding	g.chr19:53793392T>C	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.236A>G	19.37:g.53793392T>C	ENSP00000412957:p.Asn79Ser						p.N79S	NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1483	-			79					Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.236A>G	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	T	1.132	-0.652089	0.03506	.	.	ENSG00000163098	ENST00000426466	T	0.03717	3.83	0.502	0.502	0.16932	Baculoviral inhibition of apoptosis protein repeat (1);	.	.	.	.	T	0.03564	0.0102	L	0.53249	1.67	0.29368	N	0.864239	B	0.31769	0.339	B	0.28553	0.091	T	0.37314	-0.9711	9	0.17369	T	0.5	.	5.4107	0.16346	0.0:1.0E-4:0.0:0.9999	.	79	Q96P09	BIRC8_HUMAN	S	79	ENSP00000412957:N79S	ENSP00000412957:N79S	N	-	2	0	BIRC8	58485204	1.000000	0.71417	0.004000	0.12327	0.003000	0.03518	1.871000	0.39539	0.486000	0.27676	0.344000	0.21773	AAC		0.408	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		26	85	0	0	0	1	0	26	85				
PDZD8	118987	broad.mit.edu	37	10	119043865	119043865	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:119043865G>T	ENST00000334464.5	-	5	2618	c.2379C>A	c.(2377-2379)ttC>ttA	p.F793L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	793					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCAAATATTTGAAGTGAATAG	0.378																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(2377-2379)ttC>ttA		PDZ domain containing 8							77.0	77.0	77.0					10																	119043865		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043865G>T	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2379C>A	10.37:g.119043865G>T	ENSP00000334642:p.Phe793Leu					PDZD8_ENST00000482496.1_5'UTR	p.F793L	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2618	-		Colorectal(252;0.19)	793					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2379C>A	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864972	0.32977	.	.	ENSG00000165650	ENST00000334464	D	0.94330	-3.4	5.62	2.77	0.32553	.	0.000000	0.85682	D	0.000000	D	0.93327	0.7873	L	0.34521	1.04	0.41012	D	0.985013	D	0.69078	0.997	D	0.75020	0.985	D	0.92028	0.5631	10	0.72032	D	0.01	-12.4806	9.876	0.41205	0.339:0.0:0.661:0.0	.	793	Q8NEN9	PDZD8_HUMAN	L	793	ENSP00000334642:F793L	ENSP00000334642:F793L	F	-	3	2	PDZD8	119033855	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	2.276000	0.43408	0.324000	0.23333	0.563000	0.77884	TTC		0.378	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		11	35	1	0	6.40141e-05	1	7.09199e-05	11	35				
C2orf16	84226	broad.mit.edu	37	2	27800270	27800270	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:27800270G>A	ENST00000408964.2	+	1	882	c.831G>A	c.(829-831)atG>atA	p.M277I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	277						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGAAGCTATGGGGTTGACCG	0.463																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(829-831)atG>atA		chromosome 2 open reading frame 16							80.0	79.0	79.0					2																	27800270		1925	4140	6065	SO:0001583	missense	84226							g.chr2:27800270G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.831G>A	2.37:g.27800270G>A	ENSP00000386190:p.Met277Ile						p.M277I	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	882	+	Acute lymphoblastic leukemia(172;0.155)		277					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.831G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	9.122	1.009125	0.19199	.	.	ENSG00000221843	ENST00000408964	T	0.06528	3.29	4.51	1.21	0.21127	.	.	.	.	.	T	0.03095	0.0091	N	0.12182	0.205	0.09310	N	1	B	0.18013	0.025	B	0.13407	0.009	T	0.49143	-0.8970	9	0.12430	T	0.62	.	5.9022	0.18972	0.4221:0.0:0.5779:0.0	.	277	Q68DN1	CB016_HUMAN	I	277	ENSP00000386190:M277I	ENSP00000386190:M277I	M	+	3	0	C2orf16	27653774	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.182000	0.09726	0.032000	0.15435	0.563000	0.77884	ATG		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		22	106	0	0	0	1	0	22	106				
TTN	7273	broad.mit.edu	37	2	179442524	179442524	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179442524T>A	ENST00000591111.1	-	273	63930	c.63706A>T	c.(63706-63708)Ata>Tta	p.I21236L	TTN_ENST00000342175.6_Missense_Mutation_p.I14004L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I13937L|TTN_ENST00000460472.2_Missense_Mutation_p.I13812L|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I22877L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I20309L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21236	Fibronectin type-III 54. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTCTCCACTATATATCCAGTT	0.418																																						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.(68629-68631)Ata>Tta		titin							127.0	112.0	117.0					2																	179442524		1912	4124	6036	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442524T>A	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.63706A>T	2.37:g.179442524T>A	ENSP00000465570:p.Ile21236Leu					TTN_ENST00000359218.5_Missense_Mutation_p.I13937L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I20309L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I14004L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I21236L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I13812L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.I22877L	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)		323	68853	-			21236					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.68629A>T		.	.	.	.	.	.	.	.	.	.	T	12.41	1.928313	0.34002	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.68	4.5	0.54988	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47967	0.1474	L	0.51914	1.62	0.44587	D	0.997552	B;B;B;B	0.09022	0.002;0.002;0.002;0.001	B;B;B;B	0.10450	0.005;0.005;0.005;0.003	T	0.44636	-0.9315	9	0.87932	D	0	.	12.2791	0.54753	0.1269:0.0:0.0:0.873	.	13812;13937;14004;21236	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	20309;13812;14004;13937;13810	ENSP00000343764:I20309L;ENSP00000434586:I13812L;ENSP00000340554:I14004L;ENSP00000352154:I13937L	ENSP00000340554:I14004L	I	-	1	0	TTN	179150770	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	4.950000	0.63603	0.958000	0.37956	0.477000	0.44152	ATA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	51	0	0	0	1	0	15	51				
PTPRT	11122	broad.mit.edu	37	20	40713419	40713419	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:40713419G>A	ENST00000373187.1	-	29	4038	c.4039C>T	c.(4039-4041)Ccc>Tcc	p.P1347S	PTPRT_ENST00000373193.3_Missense_Mutation_p.P1350S|PTPRT_ENST00000373198.4_Missense_Mutation_p.P1366S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P1337S|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1357S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1346S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P1356S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1347	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTGGAGGGGGGCGTGTCCCGG	0.592																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(4105-4107)Ccc>Tcc		protein tyrosine phosphatase, receptor type, T							61.0	66.0	64.0					20																	40713419		2023	4169	6192	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40713419G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4039C>T	20.37:g.40713419G>A	ENSP00000362283:p.Pro1347Ser					PTPRT_ENST00000373184.1_Missense_Mutation_p.P1357S|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1350S|PTPRT_ENST00000356100.2_Missense_Mutation_p.P1356S|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1346S|PTPRT_ENST00000373201.1_Missense_Mutation_p.P1337S|PTPRT_ENST00000373187.1_Missense_Mutation_p.P1347S	p.P1369S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			30	4340	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1347			Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.4105C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565050	0.86439	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.62368	0.2422	M	0.93241	3.395	0.80722	D	1	P;P	0.42692	0.748;0.787	P;P	0.52481	0.69;0.7	T	0.70680	-0.4805	10	0.87932	D	0	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	1369;1347	O14522-1;O14522	.;PTPRT_HUMAN	S	1346;1347;1350;1356;1369;1357;1337	ENSP00000362286:P1346S;ENSP00000362283:P1347S;ENSP00000362289:P1350S;ENSP00000348408:P1356S;ENSP00000362294:P1369S;ENSP00000362280:P1357S;ENSP00000362297:P1337S	ENSP00000348408:P1356S	P	-	1	0	PTPRT	40146833	1.000000	0.71417	0.969000	0.41365	0.982000	0.71751	9.584000	0.98220	2.894000	0.99253	0.655000	0.94253	CCC		0.592	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			4	42	0	0	0	1	0	4	42				
CCDC47	57003	broad.mit.edu	37	17	61830159	61830159	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:61830159C>A	ENST00000225726.5	-	10	1417	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D	RP11-51F16.8_ENST00000580553.1_5'Flank|CCDC47_ENST00000403162.3_Splice_Site_p.E345D|CCDC47_ENST00000582252.1_Splice_Site_p.E345D	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	345					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GCTGACCTTCCCTGTCATAAA	0.383											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000225726.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.e10-1		coiled-coil domain containing 47							97.0	94.0	95.0					17																	61830159		2203	4300	6503	SO:0001630	splice_region_variant	57003					integral to membrane	protein binding	g.chr17:61830159C>A	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1035-1G>T	17.37:g.61830159C>A			OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1056	CCDC47_ENST00000582252.1_Splice_Site_p.E345_splice|CCDC47_ENST00000403162.3_Splice_Site_p.E345_splice	p.E345_splice	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN			10	1417	-			345					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Splice_Site	SNP	ENST00000225726.5	37	c.1034_splice	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203800	0.38905	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	6.07	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.57536	1.79	0.80722	D	1	D;B	0.61697	0.99;0.021	D;B	0.73380	0.98;0.012	T	0.67102	-0.5755	9	0.35671	T	0.21	.	12.4665	0.55762	0.0:0.8653:0.0:0.1347	.	345;345	Q96A33-2;Q96A33	.;CCD47_HUMAN	D	345	.	ENSP00000225726:E345D	E	-	3	2	CCDC47	59183891	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.511000	0.45476	0.912000	0.36772	-0.126000	0.14955	GAG		0.383	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198	Missense_Mutation	18	50	1	0	1.56452e-12	1	2.18317e-12	18	50				
UNC79	57578	broad.mit.edu	37	14	94071303	94071303	+	Intron	SNP	G	G	T	rs201526951		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:94071303G>T	ENST00000393151.2	+	26	3754				UNC79_ENST00000256339.4_Intron|UNC79_ENST00000555664.1_Intron|UNC79_ENST00000553484.1_Silent_p.T1272T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)						behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCGAACAGACGCCAGGTGGGT	0.473																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(3814-3816)acG>acT		unc-79 homolog (C. elegans)							19.0	18.0	18.0					14																	94071303		876	1991	2867	SO:0001627	intron_variant	57578					integral to membrane		g.chr14:94071303G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3754+1539G>T	14.37:g.94071303G>T						UNC79_ENST00000393151.2_Intron|UNC79_ENST00000256339.4_Intron|UNC79_ENST00000555664.1_Intron	p.T1272T			Q9P2D8	UNC79_HUMAN			27	3970	+			1252					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.3816G>T																																																																																					0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		4	18	1	0	0.014758	1	0.0151389	4	18				
PHACTR4	65979	broad.mit.edu	37	1	28817491	28817491	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:28817491A>G	ENST00000373839.3	+	11	2106	c.1845A>G	c.(1843-1845)gaA>gaG	p.E615E	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.E625E	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	615					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGGCAGAAAAACGAGAAA	0.353																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1843-1845)gaA>gaG		phosphatase and actin regulator 4							112.0	114.0	113.0					1																	28817491		1878	4107	5985	SO:0001819	synonymous_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28817491A>G	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1845A>G	1.37:g.28817491A>G						PHACTR4_ENST00000373836.3_Silent_p.E625E|PHACTR4_ENST00000493669.1_3'UTR	p.E615E	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	11	2106	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	615					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	ENST00000373839.3	37	c.1845A>G	CCDS41293.1																																																																																				0.353	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		13	32	0	0	0	1	0	13	32				
PCDH8	5100	broad.mit.edu	37	13	53420407	53420407	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:53420407G>A	ENST00000377942.3	-	1	2368	c.2165C>T	c.(2164-2166)gCc>gTc	p.A722V	PCDH8_ENST00000338862.4_Missense_Mutation_p.A722V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	722	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCCTGCACTGGCAGGCGCAGC	0.701																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2164-2166)gCc>gTc		protocadherin 8							8.0	13.0	11.0					13																	53420407		2025	4017	6042	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420407G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2165C>T	13.37:g.53420407G>A	ENSP00000367177:p.Ala722Val					PCDH8_ENST00000338862.4_Missense_Mutation_p.A722V	p.A722V	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2368	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	722			Cadherin 6.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2165C>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	7.795	0.712302	0.15306	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.52983	0.66;0.64	4.25	3.39	0.38822	Cadherin (1);	0.000000	0.39146	N	0.001442	T	0.33469	0.0864	N	0.24115	0.695	0.09310	N	1	B;B	0.26708	0.157;0.098	B;B	0.27170	0.077;0.035	T	0.17137	-1.0379	10	0.29301	T	0.29	.	13.3385	0.60530	0.0:0.1593:0.8407:0.0	.	722;722	O95206-2;O95206	.;PCDH8_HUMAN	V	722;722;248;565	ENSP00000367177:A722V;ENSP00000341350:A722V	ENSP00000341350:A722V	A	-	2	0	PCDH8	52318408	0.991000	0.36638	0.208000	0.23602	0.081000	0.17604	2.141000	0.42168	0.988000	0.38734	0.650000	0.86243	GCC		0.701	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		6	16	0	0	0	1	0	6	16				
MYOM2	9172	broad.mit.edu	37	8	2054184	2054184	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:2054184G>T	ENST00000262113.4	+	22	3028	c.2887G>T	c.(2887-2889)Gat>Tat	p.D963Y	MYOM2_ENST00000523438.1_Missense_Mutation_p.D388Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	963	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AACCGTGGGGGATCAGTAAGT	0.448																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(2887-2889)Gat>Tat		myomesin 2							100.0	99.0	99.0					8																	2054184		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2054184G>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2887G>T	8.37:g.2054184G>T	ENSP00000262113:p.Asp963Tyr					MYOM2_ENST00000523438.1_Missense_Mutation_p.D388Y	p.D963Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	22	3028	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	963			Ig-like C2-type 3.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2887G>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663392	0.47572	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.44482	0.92;0.92	5.31	5.31	0.75309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.251999	0.46442	D	0.000281	T	0.53562	0.1804	M	0.63428	1.95	0.44012	D	0.996726	D	0.57571	0.98	P	0.53593	0.73	T	0.57533	-0.7795	10	0.72032	D	0.01	.	14.2444	0.65978	0.0736:0.0:0.9264:0.0	.	963	P54296	MYOM2_HUMAN	Y	963;388	ENSP00000262113:D963Y;ENSP00000428396:D388Y	ENSP00000262113:D963Y	D	+	1	0	MYOM2	2041591	1.000000	0.71417	0.992000	0.48379	0.134000	0.20937	5.494000	0.66905	2.476000	0.83614	0.563000	0.77884	GAT		0.448	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		17	45	1	0	6.49762e-13	1	9.12262e-13	17	45				
WDR90	197335	broad.mit.edu	37	16	708987	708987	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:708987G>T	ENST00000293879.4	+	24	2987	c.2987G>T	c.(2986-2988)tGg>tTg	p.W996L	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.W996L			Q96KV7	WDR90_HUMAN	WD repeat domain 90	996										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTCTTCCTCTGGGATGTCCTG	0.642																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(2986-2988)tGg>tTg		WD repeat domain 90							78.0	96.0	90.0					16																	708987		2107	4218	6325	SO:0001583	missense	197335							g.chr16:708987G>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2987G>T	16.37:g.708987G>T	ENSP00000293879:p.Trp996Leu					WDR90_ENST00000293879.4_Missense_Mutation_p.W996L	p.W996L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			24	3079	+		Hepatocellular(780;0.0218)	996					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.2987G>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698466	0.68386	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.60040	0.22;3.24	4.79	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	U	0.000001	T	0.80670	0.4667	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85562	0.1228	10	0.87932	D	0	.	16.84	0.85966	0.0:0.0:1.0:0.0	.	996;996	F8VUX9;Q96KV7	.;WDR90_HUMAN	L	996	ENSP00000448122:W996L;ENSP00000293879:W996L	ENSP00000293879:W996L	W	+	2	0	WDR90	648988	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	9.061000	0.93913	2.205000	0.71048	0.655000	0.94253	TGG		0.642	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		25	93	1	0	3.28513e-13	1	4.66243e-13	25	93				
KARS	3735	broad.mit.edu	37	16	75665647	75665647	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:75665647T>A	ENST00000302445.3	-	8	1061	c.1022A>T	c.(1021-1023)tAc>tTc	p.Y341F	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.Y369F	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	341					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATAGGCCATGTAGAACTCACA	0.498																																						ENST00000319410.5																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(1105-1107)tAc>tTc		lysyl-tRNA synthetase	L-Lysine(DB00123)						220.0	193.0	202.0					16																	75665647		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75665647T>A	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1022A>T	16.37:g.75665647T>A	ENSP00000303043:p.Tyr341Phe					KARS_ENST00000302445.3_Missense_Mutation_p.Y341F|KARS_ENST00000568378.1_Intron	p.Y369F	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			9	1227	-			341					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1106A>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	T	32	5.172619	0.94807	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.81739	-1.53;-1.53	6.03	6.03	0.97812	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	H	0.99948	5.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97606	1.0126	10	0.87932	D	0	-17.5586	15.3932	0.74767	0.0:0.0:0.0:1.0	.	369;341	Q15046-2;Q15046	.;SYK_HUMAN	F	369;341	ENSP00000325448:Y369F;ENSP00000303043:Y341F	ENSP00000303043:Y341F	Y	-	2	0	KARS	74223148	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.013000	0.88655	2.308000	0.77769	0.533000	0.62120	TAC		0.498	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		48	166	0	0	0	1	0	48	166				
POTEC	388468	broad.mit.edu	37	18	14542630	14542630	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:14542630T>C	ENST00000358970.5	-	1	515	c.516A>G	c.(514-516)caA>caG	p.Q172Q	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	172										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTTACCTCTTTTGCTTGTCCC	0.592																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(514-516)caA>caG		POTE ankyrin domain family, member C							302.0	282.0	288.0					18																	14542630		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542630T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.516A>G	18.37:g.14542630T>C						POTEC_ENST00000389891.4_5'UTR	p.Q172Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	515	-			172						Silent	SNP	ENST00000358970.5	37	c.516A>G	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		38	116	0	0	0	1	0	38	116				
SBSN	374897	broad.mit.edu	37	19	36019126	36019126	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:36019126A>T	ENST00000452271.2	-	1	86	c.58T>A	c.(58-60)Tct>Act	p.S20T	SBSN_ENST00000518157.1_Missense_Mutation_p.S20T	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	20						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCCATCCAGACAGGGCCCCC	0.602																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(58-60)Tct>Act		suprabasin							63.0	57.0	59.0					19																	36019126		2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36019126A>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.58T>A	19.37:g.36019126A>T	ENSP00000430242:p.Ser20Thr					SBSN_ENST00000518157.1_Missense_Mutation_p.S20T	p.S20T	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	86	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		20					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.58T>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.465160	0.26335	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.45276	0.9;0.91	4.38	3.34	0.38264	.	0.135438	0.33401	N	0.004952	T	0.23133	0.0559	N	0.08118	0	0.22666	N	0.998878	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.22871	-1.0204	10	0.66056	D	0.02	.	10.7042	0.45946	0.0967:0.0:0.9033:0.0	.	20;20	Q6UWP8;E9PBV3	SBSN_HUMAN;.	T	20	ENSP00000430242:S20T;ENSP00000428771:S20T	ENSP00000430242:S20T	S	-	1	0	SBSN	40710966	1.000000	0.71417	0.992000	0.48379	0.300000	0.27592	3.004000	0.49513	0.950000	0.37743	-0.253000	0.11424	TCT		0.602	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		20	75	0	0	0	1	0	20	75				
FERMT2	10979	broad.mit.edu	37	14	53347986	53347986	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:53347986A>G	ENST00000395631.2	-	5	944	c.728T>C	c.(727-729)cTt>cCt	p.L243P	FERMT2_ENST00000553373.1_Missense_Mutation_p.L243P|FERMT2_ENST00000341590.3_Missense_Mutation_p.L243P|FERMT2_ENST00000343279.4_Missense_Mutation_p.L243P|FERMT2_ENST00000399304.3_Missense_Mutation_p.L243P			Q96AC1	FERM2_HUMAN	fermitin family member 2	243	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TGCTTTATCAAGAAGAGCTTG	0.373																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(727-729)cTt>cCt		fermitin family member 2							123.0	126.0	125.0					14																	53347986		2203	4300	6503	SO:0001583	missense	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53347986A>G	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.728T>C	14.37:g.53347986A>G	ENSP00000378993:p.Leu243Pro					FERMT2_ENST00000399304.3_Missense_Mutation_p.L243P|FERMT2_ENST00000341590.3_Missense_Mutation_p.L243P|FERMT2_ENST00000553373.1_Missense_Mutation_p.L243P|FERMT2_ENST00000343279.4_Missense_Mutation_p.L243P	p.L243P			Q96AC1	FERM2_HUMAN			5	944	-	Breast(41;0.0342)		243			FERM.		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	c.728T>C	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359758	0.82353	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554288	T;T;T;T;T;T;T	0.48522	0.81;0.81;0.84;0.81;0.81;0.81;1.37	5.92	5.92	0.95590	FERM, N-terminal (1);Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	L	0.27053	0.805	0.80722	D	1	D;P;D	0.54964	0.961;0.899;0.969	P;P;P	0.60886	0.81;0.817;0.88	T	0.54443	-0.8293	10	0.46703	T	0.11	.	16.3495	0.83197	1.0:0.0:0.0:0.0	.	243;243;243	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	P	243;243;196;243;243;243;138	ENSP00000378993:L243P;ENSP00000340391:L243P;ENSP00000450741:L196P;ENSP00000342858:L243P;ENSP00000451084:L243P;ENSP00000382243:L243P;ENSP00000451268:L138P	ENSP00000340391:L243P	L	-	2	0	FERMT2	52417736	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.261000	0.74972	0.482000	0.46254	CTT		0.373	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		31	158	0	0	0	1	0	31	158				
SLC39A4	55630	broad.mit.edu	37	8	145639732	145639732	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:145639732C>A	ENST00000301305.3	-	6	1168	c.1063G>T	c.(1063-1065)Ggg>Tgg	p.G355W	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000276833.5_Missense_Mutation_p.G330W	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	355					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGGGTGACCCCCCTGCAGCCA	0.652																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(988-990)Ggg>Tgg		solute carrier family 39 (zinc transporter), member 4							43.0	36.0	39.0					8																	145639732		2194	4291	6485	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145639732C>A	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1063G>T	8.37:g.145639732C>A	ENSP00000301305:p.Gly355Trp					SLC39A4_ENST00000301305.3_Missense_Mutation_p.G355W	p.G330W	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		5	1291	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		355		G -> D (in AEZ).			Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.988G>T	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355913	0.41700	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.49139	0.79;0.79	5.03	-5.65	0.02459	.	2.899800	0.01475	N	0.016458	T	0.50616	0.1626	L	0.36672	1.1	0.09310	N	1	D;D	0.60575	0.988;0.988	P;P	0.59424	0.857;0.732	T	0.56780	-0.7922	10	0.66056	D	0.02	0.0582	6.9795	0.24696	0.1159:0.4716:0.0:0.4126	.	355;330	Q6P5W5;A6NDY5	S39A4_HUMAN;.	W	330;355	ENSP00000276833:G330W;ENSP00000301305:G355W	ENSP00000276833:G330W	G	-	1	0	SLC39A4	145610540	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-1.635000	0.02018	-0.725000	0.04901	0.573000	0.79308	GGG		0.652	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			9	25	1	0	1.12685e-05	1	1.27784e-05	9	25				
MAG	4099	broad.mit.edu	37	19	35804288	35804288	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:35804288A>G	ENST00000392213.3	+	11	1971	c.1812A>G	c.(1810-1812)aaA>aaG	p.K604K	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Silent_p.K579K	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	604					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCTGGGGAAACGGCCCACCA	0.632																																						ENST00000392213.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1810-1812)aaA>aaG		myelin associated glycoprotein							85.0	74.0	78.0					19																	35804288		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35804288A>G	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1812A>G	19.37:g.35804288A>G						MAG_ENST00000537831.2_Silent_p.K579K|MAG_ENST00000361922.4_3'UTR	p.K604K	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	1971	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	604					B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1812A>G	CCDS12455.1																																																																																				0.632	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		26	59	0	0	0	1	0	26	59				
EPAS1	2034	broad.mit.edu	37	2	46574115	46574115	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:46574115C>T	ENST00000263734.3	+	2	640	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	44	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGCCTCTGCCCCACAGTGT	0.612																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(130-132)Ccc>Tcc		endothelial PAS domain protein 1							121.0	111.0	114.0					2																	46574115		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46574115C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.130C>T	2.37:g.46574115C>T	ENSP00000263734:p.Pro44Ser					EPAS1_ENST00000467888.1_3'UTR	p.P44S	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	640	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	44			Helix-loop-helix motif.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.130C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153462	0.94645	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.20332	2.08;2.08	4.86	4.86	0.63082	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.54866	-0.8229	10	0.87932	D	0	.	18.1949	0.89818	0.0:1.0:0.0:0.0	.	44	Q99814	EPAS1_HUMAN	S	44	ENSP00000406137:P44S;ENSP00000263734:P44S	ENSP00000263734:P44S	P	+	1	0	EPAS1	46427619	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.766000	0.68843	2.521000	0.84997	0.561000	0.74099	CCC		0.612	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		29	107	0	0	0	1	0	29	107				
SLC6A16	28968	broad.mit.edu	37	19	49813424	49813424	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:49813424C>A	ENST00000335875.4	-	4	815		c.e4-1		SLC6A16_ENST00000454748.3_Splice_Site|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16						neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGAAGCACACCTGGGGGCCAA	0.532																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.e4-1		solute carrier family 6, member 16							61.0	59.0	60.0					19																	49813424		2002	4161	6163	SO:0001630	splice_region_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49813424C>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.574-1G>T	19.37:g.49813424C>A						SLC6A16_ENST00000335875.4_Splice_Site				Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	4	775	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)						Q8IYV4|Q9Y5I9	Splice_Site	SNP	ENST00000335875.4	37		CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933131	0.34096	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	.	.	.	4.16	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2527	0.43379	0.0:0.9013:0.0:0.0987	.	.	.	.	.	-1	.	.	.	-	.	.	SLC6A16	54505236	1.000000	0.71417	0.181000	0.23098	0.025000	0.11179	3.955000	0.56715	1.339000	0.45563	0.655000	0.94253	.		0.532	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037	Intron	15	27	1	0	0.00244969	1	0.00257952	15	27				
FSHR	2492	broad.mit.edu	37	2	49190545	49190545	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:49190545G>C	ENST00000406846.2	-	10	1534	c.1415C>G	c.(1414-1416)aCg>aGg	p.T472R	FSHR_ENST00000346173.3_Missense_Mutation_p.T410R|FSHR_ENST00000304421.4_Missense_Mutation_p.T446R|FSHR_ENST00000541117.1_Missense_Mutation_p.T208R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	472					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.T472K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CATGGCATGCGTGATGGTATG	0.542									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			1	Substitution - Missense(1)	p.T472K(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1414-1416)aCg>aGg		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						56.0	50.0	52.0					2																	49190545		2203	4300	6503	SO:0001583	missense	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190545G>C		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1415C>G	2.37:g.49190545G>C	ENSP00000384708:p.Thr472Arg					FSHR_ENST00000541117.1_Missense_Mutation_p.T208R|FSHR_ENST00000304421.4_Missense_Mutation_p.T446R|FSHR_ENST00000346173.3_Missense_Mutation_p.T410R	p.T472R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1534	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	472					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1415C>G	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011921	0.75046	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	T	0.63514	-0.6620	9	.	.	.	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	446;410;472	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	R	472;410;446;208	ENSP00000384708:T472R;ENSP00000333908:T410R;ENSP00000306780:T446R;ENSP00000444172:T208R	.	T	-	2	0	FSHR	49044049	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	ACG		0.542	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			7	31	0	0	0	1	0	7	31				
CHD8	57680	broad.mit.edu	37	14	21873986	21873986	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:21873986T>C	ENST00000557364.1	-	15	3208	c.2945A>G	c.(2944-2946)aAt>aGt	p.N982S	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.N703S|CHD8_ENST00000399982.2_Missense_Mutation_p.N982S			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	982	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCTACAGTATTTTGCAATGG	0.393																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(2944-2946)aAt>aGt		chromodomain helicase DNA binding protein 8							134.0	129.0	131.0					14																	21873986		1844	4090	5934	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21873986T>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2945A>G	14.37:g.21873986T>C	ENSP00000451601:p.Asn982Ser					CHD8_ENST00000557364.1_Missense_Mutation_p.N982S|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.N703S	p.N982S	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	14	3009	-	all_cancers(95;0.00121)		982			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2945A>G	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602177	0.87055	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.94931	-3.56;-3.56;-3.56	5.43	5.43	0.79202	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99581	1.0973	10	0.87932	D	0	-30.2594	14.6032	0.68456	0.0:0.0:0.0:1.0	.	982;703	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	S	703;982;702;982	ENSP00000406288:N703S;ENSP00000382863:N982S;ENSP00000451601:N982S	ENSP00000262707:N702S	N	-	2	0	CHD8	20943826	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.868000	0.87116	2.281000	0.76405	0.528000	0.53228	AAT		0.393	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		71	87	0	0	0	1	0	71	87				
C12orf71	728858	broad.mit.edu	37	12	27235198	27235198	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:27235198T>A	ENST00000429849.2	-	1	249	c.219A>T	c.(217-219)caA>caT	p.Q73H		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	73										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAATTTGGTCTTGTCTCTTCA	0.517																																						ENST00000429849.2																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						c.(217-219)caA>caT		chromosome 12 open reading frame 71							85.0	85.0	85.0					12																	27235198		1999	4175	6174	SO:0001583	missense	728858							g.chr12:27235198T>A		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.219A>T	12.37:g.27235198T>A	ENSP00000413728:p.Gln73His						p.Q73H	NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN			1	249	-			73						Missense_Mutation	SNP	ENST00000429849.2	37	c.219A>T	CCDS44851.1	.	.	.	.	.	.	.	.	.	.	T	8.032	0.762025	0.15914	.	.	ENSG00000214700	ENST00000398815;ENST00000429849	T	0.43688	0.94	3.32	0.64	0.17752	.	1.987270	0.03647	U	0.240435	T	0.34250	0.0891	N	0.19112	0.55	0.09310	N	1	D	0.55605	0.972	P	0.49047	0.599	T	0.24119	-1.0169	10	0.72032	D	0.01	-1.0097	2.5018	0.04635	0.2329:0.1353:0.0:0.6319	.	73	A8MTZ7	CL071_HUMAN	H	73	ENSP00000413728:Q73H	ENSP00000381796:Q73H	Q	-	3	2	C12orf71	27126465	0.000000	0.05858	0.009000	0.14445	0.023000	0.10783	-0.019000	0.12546	0.472000	0.27344	-0.461000	0.05368	CAA		0.517	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		6	27	0	0	0	1	0	6	27				
HADH	3033	broad.mit.edu	37	4	108954331	108954331	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:108954331G>A	ENST00000309522.3	+	7	858		c.e7-1		HADH_ENST00000510728.1_Splice_Site|HADH_ENST00000454409.2_Splice_Site|HADH_ENST00000603302.1_Splice_Site|HADH_ENST00000505878.1_Splice_Site|HADH_ENST00000403312.1_Splice_Site	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase						cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		TTTCTCCTTAGGTGACGCATC	0.458																																						ENST00000505878.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.e8-1		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						124.0	120.0	121.0					4																	108954331		2203	4300	6503	SO:0001630	splice_region_variant	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108954331G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.710-1G>A	4.37:g.108954331G>A						HADH_ENST00000603302.1_Splice_Site|HADH_ENST00000510728.1_Splice_Site|HADH_ENST00000309522.3_Splice_Site|HADH_ENST00000403312.1_Splice_Site|HADH_ENST00000454409.2_Splice_Site				Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	8	994	+		Hepatocellular(203;0.217)						B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Splice_Site	SNP	ENST00000309522.3	37		CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728409	0.69074	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HADH	109173780	1.000000	0.71417	0.855000	0.33649	0.629000	0.37895	9.548000	0.98103	2.771000	0.95319	0.563000	0.77884	.		0.458	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327	Intron	14	57	0	0	0	1	0	14	57				
GABRA6	2559	broad.mit.edu	37	5	161117215	161117215	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:161117215G>T	ENST00000274545.5	+	7	1115	c.682G>T	c.(682-684)Gtt>Ttt	p.V228F	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.V218F			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	228					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V228I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGTGAATACGTTATAATGAC	0.358										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			1	Substitution - Missense(1)	p.V228I(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(652-654)Gtt>Ttt		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						129.0	114.0	119.0					5																	161117215		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161117215G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.682G>T	5.37:g.161117215G>T	ENSP00000274545:p.Val228Phe	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.V228F	p.V218F	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	894	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	228					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.652G>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938643	0.73557	.	.	ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.56	4.68	0.58851	Neurotransmitter-gated ion-channel ligand-binding (3);	0.236515	0.43110	D	0.000612	D	0.84115	0.5401	M	0.71206	2.165	0.52501	D	0.999952	P	0.43231	0.801	P	0.57911	0.829	D	0.84923	0.0855	10	0.72032	D	0.01	.	10.1013	0.42507	0.1491:0.0:0.8509:0.0	.	228	Q16445	GBRA6_HUMAN	F	228;218;175;148	ENSP00000274545:V228F;ENSP00000430527:V218F;ENSP00000430212:V175F;ENSP00000427989:V148F	ENSP00000274545:V228F	V	+	1	0	GABRA6	161049793	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	3.534000	0.53568	2.607000	0.88179	0.655000	0.94253	GTT		0.358	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			7	44	1	0	2.0095e-06	1	2.3487e-06	7	44				
ZNF831	128611	broad.mit.edu	37	20	57766541	57766541	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57766541C>A	ENST00000371030.2	+	1	467	c.467C>A	c.(466-468)cCc>cAc	p.P156H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	156							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCTGAAGCCCAGTGTTCTA	0.642																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(466-468)cCc>cAc		zinc finger protein 831							81.0	86.0	84.0					20																	57766541		2092	4223	6315	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766541C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.467C>A	20.37:g.57766541C>A	ENSP00000360069:p.Pro156His						p.P156H	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	467	+	all_lung(29;0.0085)		156					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.467C>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.798603	0.70567	.	.	ENSG00000124203	ENST00000371030	T	0.28255	1.62	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44307	0.1287	N	0.24115	0.695	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.45673	-0.9245	9	0.72032	D	0.01	-13.3597	18.1834	0.89786	0.0:1.0:0.0:0.0	.	156	Q5JPB2	ZN831_HUMAN	H	156	ENSP00000360069:P156H	ENSP00000360069:P156H	P	+	2	0	ZNF831	57199936	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.755000	0.85180	2.538000	0.85594	0.561000	0.74099	CCC		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		54	149	1	0	8.52529e-16	1	1.28795e-15	54	149				
FAT4	79633	broad.mit.edu	37	4	126241236	126241236	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:126241236G>T	ENST00000394329.3	+	1	3683	c.3670G>T	c.(3670-3672)Gcc>Tcc	p.A1224S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1224	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAATCAGCAGCCAATCTGAC	0.338																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(3670-3672)Gcc>Tcc		FAT atypical cadherin 4							44.0	43.0	43.0					4																	126241236		1835	4089	5924	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241236G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3670G>T	4.37:g.126241236G>T	ENSP00000377862:p.Ala1224Ser						p.A1224S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	3683	+			1224			Cadherin 12.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3670G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	1.784	-0.481289	0.04383	.	.	ENSG00000196159	ENST00000394329	T	0.01725	4.67	4.71	2.92	0.33932	Cadherin (3);Cadherin-like (1);	0.225676	0.21242	U	0.077796	T	0.01489	0.0048	N	0.17723	0.515	0.80722	D	1	B	0.25772	0.134	B	0.30105	0.111	T	0.60586	-0.7234	10	0.27785	T	0.31	.	6.6864	0.23148	0.0833:0.0:0.6008:0.3159	.	1224	Q6V0I7	FAT4_HUMAN	S	1224	ENSP00000377862:A1224S	ENSP00000377862:A1224S	A	+	1	0	FAT4	126460686	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	3.184000	0.50926	0.561000	0.29186	0.561000	0.74099	GCC		0.338	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	24	1	0	4.68919e-08	1	5.80748e-08	11	24				
FAM86HP	729375	broad.mit.edu	37	3	129824423	129824423	+	RNA	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:129824423C>G	ENST00000500074.2	-	0	206									family with sequence similarity 86, member H, pseudogene																		ATCAGGGTCTCTGCCAGCGCC	0.582																																						ENST00000500074.2																			0																																																			729375							g.chr3:129824423C>G			3q22.1	2011-07-01			ENSG00000253540	ENSG00000253540			42359	pseudogene	pseudogene							Standard	NR_024252		Approved		uc011ble.1		OTTHUMG00000159796		3.37:g.129824423C>G														0	206	-									RNA	SNP	ENST00000500074.2	37																																																																																						0.582	FAM86HP-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000358348.1			16	28	0	0	0	1	0	16	28				
DPF3	8110	broad.mit.edu	37	14	73159872	73159872	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:73159872A>T	ENST00000556509.1	-	7	653	c.654T>A	c.(652-654)gcT>gcA	p.A218A	DPF3_ENST00000546183.1_Silent_p.A228A|DPF3_ENST00000541685.1_Silent_p.A218A|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	218					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGTGAGTGTGAGCATAGTGGT	0.537																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(652-654)gcT>gcA		D4, zinc and double PHD fingers, family 3							127.0	132.0	130.0					14																	73159872		2060	4212	6272	SO:0001819	synonymous_variant	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73159872A>T	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.654T>A	14.37:g.73159872A>T						DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Silent_p.A228A|DPF3_ENST00000556509.1_Silent_p.A218A	p.A218A	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	7	666	-			218					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Silent	SNP	ENST00000556509.1	37	c.654T>A																																																																																					0.537	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			63	78	0	0	0	1	0	63	78				
DNAH5	1767	broad.mit.edu	37	5	13794111	13794111	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:13794111C>T	ENST00000265104.4	-	48	8048	c.7944G>A	c.(7942-7944)gcG>gcA	p.A2648A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2648	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTCTTTCCCGCAGGAGGGC	0.368									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(7942-7944)gcG>gcA		dynein, axonemal, heavy chain 5							109.0	101.0	103.0					5																	13794111		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13794111C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7944G>A	5.37:g.13794111C>T							p.A2648A	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			48	8048	-	Lung NSC(4;0.00476)		2648			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.7944G>A	CCDS3882.1																																																																																				0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		18	72	0	0	0	1	0	18	72				
UGT2B4	7363	broad.mit.edu	37	4	70355209	70355209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:70355209G>T	ENST00000305107.6	-	3	996	c.950C>A	c.(949-951)tCa>tAa	p.S317*	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.S181*|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.S317*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	317					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CCTTTCTTCTGATGTGTTACT	0.398																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(949-951)tCa>tAa		UDP glucuronosyltransferase 2 family, polypeptide B4							169.0	163.0	165.0					4																	70355209		2203	4300	6503	SO:0001587	stop_gained	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70355209G>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.950C>A	4.37:g.70355209G>T	ENSP00000305221:p.Ser317*					UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.S181*|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.S317*	p.S317*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			3	996	-			317					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Nonsense_Mutation	SNP	ENST00000305107.6	37	c.950C>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974409	0.18736	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	.	.	.	2.25	2.25	0.28309	.	0.157818	0.40385	U	0.001113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	10.6411	0.45594	0.0:0.0:1.0:0.0	.	.	.	.	X	317;317;181	.	ENSP00000305221:S317X	S	-	2	0	UGT2B4	70389798	0.647000	0.27304	0.162000	0.22713	0.002000	0.02628	3.077000	0.50089	1.596000	0.50062	0.306000	0.20318	TCA		0.398	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		23	112	1	0	1.5548e-18	1	2.44593e-18	23	112				
MEF2B	100271849	broad.mit.edu	37	19	19257421	19257421	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:19257421T>C	ENST00000602424.2	-	9	1438	c.712A>G	c.(712-714)Act>Gct	p.T238A	MEF2B_ENST00000162023.5_Missense_Mutation_p.T238A|MEF2B_ENST00000410050.1_Missense_Mutation_p.T238A|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2B_ENST00000409224.1_Missense_Mutation_p.T241A|MEF2B_ENST00000409447.2_Missense_Mutation_p.H193R|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.T255A|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.T238A|MEF2B_ENST00000424583.2_Missense_Mutation_p.T238A	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	238					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGAGTTGCAGTGGAGCAGGGG	0.672																																						ENST00000602424.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(712-714)Act>Gct		myocyte enhancer factor 2B							27.0	29.0	29.0					19																	19257421		2201	4296	6497	SO:0001583	missense	100271849							g.chr19:19257421T>C	X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.712A>G	19.37:g.19257421T>C	ENSP00000473308:p.Thr238Ala					MEF2B_ENST00000410050.1_Missense_Mutation_p.T238A|MEF2B_ENST00000409447.2_Missense_Mutation_p.H193R|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.T255A|MEF2B_ENST00000424583.2_Missense_Mutation_p.T238A|MEF2B_ENST00000409224.1_Missense_Mutation_p.T241A|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.T238A|MEF2B_ENST00000162023.5_Missense_Mutation_p.T238A	p.T238A	NM_005919.3	NP_005910.1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)		9	1438	-								A0AV80|B4DVH7|B7ZVY1|G5E9M1	Missense_Mutation	SNP	ENST00000602424.2	37	c.712A>G	CCDS12394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.703|6.703	0.498361|0.498361	0.12762|0.12762	.|.	.|.	ENSG00000213999|ENSG00000213999	ENST00000409447|ENST00000409224;ENST00000424583;ENST00000410050;ENST00000444486;ENST00000162023	.|D;D;D;D;D	.|0.86297	.|-2.05;-2.1;-2.04;-1.98;-2.1	4.49|4.49	-6.25|-6.25	0.02039|0.02039	.|.	.|1.118380	.|0.06649	.|N	.|0.762342	T|T	0.63581|0.63581	0.2523|0.2523	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|B;B;B;B	0.02656|0.02656	0.0|0.0;0.0;0.0;0.0	B|B;B;B;B	0.01281|0.01281	0.0|0.0;0.0;0.0;0.0	T|T	0.55328|0.55328	-0.8158|-0.8158	8|10	0.42905|0.13108	T|T	0.14|0.6	-0.115|-0.115	4.4356|4.4356	0.11549|0.11549	0.2832:0.1666:0.0:0.5502|0.2832:0.1666:0.0:0.5502	.|.	240|238;238;238;241	B8ZZJ5|Q02080;C9J4J4;G5E9M1;B3KQ23	.|MEF2B_HUMAN;.;.;.	R|A	240|241;238;238;238;238	.|ENSP00000386480:T241A;ENSP00000402154:T238A;ENSP00000386374:T238A;ENSP00000390762:T238A;ENSP00000162023:T238A	ENSP00000386784:H240R|ENSP00000162023:T238A	H|T	-|-	2|1	0|0	MEF2B|MEF2B	19118421|19118421	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	-0.592000|-0.592000	0.05747|0.05747	-0.868000|-0.868000	0.04058|0.04058	-1.229000|-1.229000	0.01577|0.01577	CAC|ACT		0.672	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919		7	17	0	0	0	1	0	7	17				
UPP1	7378	broad.mit.edu	37	7	48141467	48141467	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:48141467G>T	ENST00000331803.4	+	6	832	c.209G>T	c.(208-210)aGg>aTg	p.R70M	UPP1_ENST00000395564.4_Missense_Mutation_p.R70M|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.R70M|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	70					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GCCTTCATCAGGTGCGTTGGT	0.547																																						ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(208-210)aGg>aTg		uridine phosphorylase 1							175.0	146.0	156.0					7																	48141467		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48141467G>T	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.209G>T	7.37:g.48141467G>T	ENSP00000330032:p.Arg70Met					UPP1_ENST00000395564.4_Missense_Mutation_p.R70M|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.R70M|UPP1_ENST00000482015.1_3'UTR	p.R70M			Q16831	UPP1_HUMAN			6	832	+			70					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.209G>T	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254877	0.22965	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.62	-8.77	0.00827	Nucleoside phosphorylase domain (1);	0.842740	0.10839	N	0.628499	T	0.40015	0.1100	L	0.53249	1.67	0.09310	N	0.99999	D;P	0.63880	0.993;0.728	P;B	0.54026	0.74;0.4	T	0.36335	-0.9752	10	0.32370	T	0.25	-10.4973	9.0329	0.36269	0.4778:0.2348:0.2874:0.0	.	70;70	B4DND0;Q16831	.;UPP1_HUMAN	M	70	ENSP00000405209:R70M;ENSP00000330032:R70M;ENSP00000342878:R70M;ENSP00000378931:R70M;ENSP00000390118:R70M	ENSP00000330032:R70M	R	+	2	0	UPP1	48107992	0.026000	0.19158	0.008000	0.14137	0.244000	0.25665	0.155000	0.16362	-1.127000	0.02925	-0.150000	0.13652	AGG		0.547	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		26	73	1	0	3.17567e-06	1	3.66948e-06	26	73				
SLC22A14	9389	broad.mit.edu	37	3	38350472	38350472	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:38350472G>A	ENST00000273173.4	+	4	894	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R268Q	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	268					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GGTGAGCACCGGGCCCATGCC	0.592																																						ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(802-804)cGg>cAg		solute carrier family 22, member 14							200.0	188.0	192.0					3																	38350472		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38350472G>A	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.803G>A	3.37:g.38350472G>A	ENSP00000273173:p.Arg268Gln					SLC22A14_ENST00000448498.1_Missense_Mutation_p.R268Q	p.R268Q	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	4	894	+			268					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.803G>A	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021732	0.93462	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	D;D	0.81996	-1.56;-1.56	5.16	4.29	0.51040	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.132995	0.49916	D	0.000122	D	0.91968	0.7456	M	0.89785	3.06	0.39331	D	0.96542	D	0.89917	1.0	D	0.87578	0.998	D	0.93580	0.6912	10	0.72032	D	0.01	.	12.8471	0.57835	0.0804:0.0:0.9196:0.0	.	268	Q9Y267	S22AE_HUMAN	Q	268	ENSP00000396283:R268Q;ENSP00000273173:R268Q	ENSP00000273173:R268Q	R	+	2	0	SLC22A14	38325476	0.930000	0.31532	0.863000	0.33907	0.332000	0.28634	3.093000	0.50217	1.305000	0.44909	0.655000	0.94253	CGG		0.592	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		43	124	0	0	0	1	0	43	124				
ARHGEF6	9459	broad.mit.edu	37	X	135764128	135764128	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:135764128C>A	ENST00000250617.6	-	14	2685		c.e14-1		ARHGEF6_ENST00000535227.1_Splice_Site|ARHGEF6_ENST00000370622.1_Splice_Site|ARHGEF6_ENST00000370620.1_Splice_Site	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTATTTTTCCCTATTAGAAAA	0.358																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.e14-1		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							147.0	127.0	134.0					X																	135764128		2203	4300	6503	SO:0001630	splice_region_variant	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135764128C>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1480-1G>T	X.37:g.135764128C>A						ARHGEF6_ENST00000370622.1_Splice_Site|ARHGEF6_ENST00000535227.1_Splice_Site|ARHGEF6_ENST00000370620.1_Splice_Site		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			14	2685	-	Acute lymphoblastic leukemia(192;0.000127)							A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Splice_Site	SNP	ENST00000250617.6	37		CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953012	0.73902	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.483	0.90819	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGEF6	135591794	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	4.965000	0.63708	2.306000	0.77630	0.600000	0.82982	.		0.358	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840	Intron	20	33	1	0	4.96729e-08	1	6.13527e-08	20	33				
PCDHB4	56131	broad.mit.edu	37	5	140503803	140503803	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140503803C>T	ENST00000194152.1	+	1	2223	c.2223C>T	c.(2221-2223)acC>acT	p.T741T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	741					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGCGGCACCGGGACCCTGT	0.622																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(2221-2223)acC>acT									85.0	96.0	92.0					5																	140503803		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503803C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2223C>T	5.37:g.140503803C>T							p.T741T	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2223	+			741					Q4V761	Silent	SNP	ENST00000194152.1	37	c.2223C>T	CCDS4246.1																																																																																				0.622	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		54	139	0	0	0	1	0	54	139				
ZNF271	10778	broad.mit.edu	37	18	32886941	32886941	+	RNA	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:32886941G>C	ENST00000399070.3	+	0	1335					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						GCAATAAAATGTTTAGTCGAA	0.373																																						ENST00000399070.3																			0				large_intestine(3)|lung(9)	12															61.0	63.0	62.0					18																	32886941		2203	4300	6503			10778							g.chr18:32886941G>C	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886941G>C								NR_024565.1|NR_024566.1						0	1335	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	ENST00000399070.3	37																																																																																						0.373	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		19	39	0	0	0	1	0	19	39				
KRT35	3886	broad.mit.edu	37	17	39635232	39635232	+	Missense_Mutation	SNP	G	G	T	rs371100803		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:39635232G>T	ENST00000393989.1	-	4	769	c.727C>A	c.(727-729)Cgc>Agc	p.R243S	KRT35_ENST00000246639.2_Missense_Mutation_p.R213S	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	243	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGTTGGCAGCGCAGTGAGTTC	0.552																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(637-639)Cgc>Agc		keratin 35							57.0	60.0	59.0					17																	39635232		2201	4300	6501	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635232G>T	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.727C>A	17.37:g.39635232G>T	ENSP00000377558:p.Arg243Ser					KRT35_ENST00000393989.1_Missense_Mutation_p.R243S	p.R213S			Q92764	KRT35_HUMAN			4	769	-		Breast(137;0.000286)	243			Coil 1B.|Rod.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.637C>A	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273782	0.59649	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	T;T	0.76839	-1.05;-1.05	4.7	3.73	0.42828	Filament (1);	0.000000	0.53938	D	0.000054	D	0.82513	0.5053	M	0.80847	2.515	0.34993	D	0.7552	P	0.52463	0.953	P	0.53722	0.733	D	0.86419	0.1753	10	0.44086	T	0.13	.	9.2009	0.37258	0.079:0.0:0.777:0.144	.	243	Q92764	KRT35_HUMAN	S	213;243	ENSP00000246639:R213S;ENSP00000377558:R243S	ENSP00000246639:R213S	R	-	1	0	KRT35	36888758	0.921000	0.31238	0.999000	0.59377	0.795000	0.44927	1.342000	0.33919	1.332000	0.45431	0.655000	0.94253	CGC		0.552	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		15	43	1	0	1.05317e-09	1	1.36152e-09	15	43				
WDR54	84058	broad.mit.edu	37	2	74649491	74649491	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:74649491C>G	ENST00000348227.4	+	2	299	c.211C>G	c.(211-213)Ctt>Gtt	p.L71V	WDR54_ENST00000461531.1_Intron|WDR54_ENST00000409791.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	71										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GAGTCCCCCACTTATCACTCA	0.597																																						ENST00000348227.4																			0				breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(211-213)Ctt>Gtt		WD repeat domain 54							34.0	28.0	30.0					2																	74649491		2203	4300	6503	SO:0001583	missense	84058							g.chr2:74649491C>G	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.211C>G	2.37:g.74649491C>G	ENSP00000006526:p.Leu71Val					WDR54_ENST00000461531.1_Intron|WDR54_ENST00000409791.1_Intron	p.L71V	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN			2	299	+			71					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.211C>G	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117341	0.56505	.	.	ENSG00000005448	ENST00000426787;ENST00000348227	.	.	.	5.47	5.47	0.80525	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	L	0.47716	1.5	0.80722	D	1	B	0.24258	0.1	B	0.21708	0.036	T	0.50709	-0.8796	9	0.23891	T	0.37	-15.7889	16.2503	0.82481	0.0:1.0:0.0:0.0	.	71	Q9H977	WDR54_HUMAN	V	71	.	ENSP00000006526:L71V	L	+	1	0	WDR54	74502999	0.995000	0.38212	1.000000	0.80357	0.806000	0.45545	2.679000	0.46909	2.576000	0.86940	0.511000	0.50034	CTT		0.597	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		7	22	0	0	0	1	0	7	22				
SLITRK4	139065	broad.mit.edu	37	X	142718335	142718335	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142718335C>A	ENST00000381779.4	-	2	815	c.590G>T	c.(589-591)gGg>gTg	p.G197V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G197V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G197V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	197						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAACCCCGATATAAGG	0.438																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(589-591)gGg>gTg		SLIT and NTRK-like family, member 4							79.0	76.0	77.0					X																	142718335		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718335C>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.590G>T	X.37:g.142718335C>A	ENSP00000371198:p.Gly197Val					SLITRK4_ENST00000338017.4_Missense_Mutation_p.G197V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G197V	p.G197V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	815	-	Acute lymphoblastic leukemia(192;6.56e-05)		197					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.590G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384825	0.61956	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.54866	0.55;0.55;0.55	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79624	-0.1726	10	0.87932	D	0	-6.8478	17.0529	0.86524	0.0:1.0:0.0:0.0	.	197	Q8IW52	SLIK4_HUMAN	V	197	ENSP00000371198:G197V;ENSP00000349400:G197V;ENSP00000336627:G197V	ENSP00000336627:G197V	G	-	2	0	SLITRK4	142546001	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.347000	0.79759	0.600000	0.82982	GGG		0.438	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		24	71	1	0	5.35356e-11	1	7.1642e-11	24	71				
NPAP1	23742	broad.mit.edu	37	15	24921354	24921354	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:24921354G>C	ENST00000329468.2	+	1	814	c.340G>C	c.(340-342)Gta>Cta	p.V114L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	114			V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V114I(1)									CCCCAGTTCCGTAAGGATCCC	0.657																																						ENST00000329468.2																			1	Substitution - Missense(1)	p.V114I(1)	large_intestine(1)								c.(340-342)Gta>Cta		nuclear pore associated protein 1							54.0	44.0	47.0					15																	24921354		2200	4295	6495	SO:0001583	missense	23742							g.chr15:24921354G>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.340G>C	15.37:g.24921354G>C	ENSP00000333735:p.Val114Leu						p.V114L	NM_018958.2	NP_061831.2					1	814	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.340G>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.351	0.830844	0.16820	.	.	ENSG00000185823	ENST00000329468	T	0.11495	2.77	2.45	-4.91	0.03085	.	3.155100	0.01479	N	0.016587	T	0.09468	0.0233	L	0.43923	1.385	0.09310	N	1	B	0.33318	0.408	B	0.35813	0.211	T	0.10989	-1.0606	10	0.45353	T	0.12	.	1.4147	0.02299	0.4719:0.1824:0.2031:0.1427	.	114	Q9NZP6	CO002_HUMAN	L	114	ENSP00000333735:V114L	ENSP00000333735:V114L	V	+	1	0	C15orf2	22472447	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.750000	0.04808	-1.978000	0.00993	-0.350000	0.07774	GTA		0.657	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		16	56	0	0	0	1	0	16	56				
SPHKAP	80309	broad.mit.edu	37	2	228881665	228881665	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:228881665G>T	ENST00000392056.3	-	7	3951	c.3905C>A	c.(3904-3906)aCc>aAc	p.T1302N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T1302N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1302						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAACATGTTGGTGATGTGGTC	0.502																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3904-3906)aCc>aAc		SPHK1 interactor, AKAP domain containing							103.0	94.0	97.0					2																	228881665		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881665G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3905C>A	2.37:g.228881665G>T	ENSP00000375909:p.Thr1302Asn					SPHKAP_ENST00000344657.5_Missense_Mutation_p.T1302N	p.T1302N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3951	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1302					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3905C>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735465	0.69189	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.43294	0.95;0.95	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.63028	-0.6728	10	0.45353	T	0.12	.	19.2499	0.93919	0.0:0.0:1.0:0.0	.	333;1302;1302	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	N	1302	ENSP00000375909:T1302N;ENSP00000339886:T1302N	ENSP00000339886:T1302N	T	-	2	0	SPHKAP	228589909	1.000000	0.71417	0.972000	0.41901	0.592000	0.36648	9.096000	0.94182	2.793000	0.96121	0.655000	0.94253	ACC		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		20	61	1	0	8.34094e-07	1	9.86237e-07	20	61				
BHMT	635	broad.mit.edu	37	5	78426858	78426858	+	Silent	SNP	C	C	A	rs201314996		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:78426858C>A	ENST00000274353.5	+	8	1247	c.1140C>A	c.(1138-1140)gcC>gcA	p.A380A	BHMT_ENST00000524080.1_Silent_p.A227A|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	380					amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AAGGAACAGCCGAGCTGATGC	0.478																																						ENST00000274353.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(1138-1140)gcC>gcA		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						106.0	120.0	115.0					5																	78426858		2203	4300	6503	SO:0001819	synonymous_variant	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78426858C>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.1140C>A	5.37:g.78426858C>A						DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Silent_p.A227A	p.A380A	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	8	1247	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	380					Q9UNI9	Silent	SNP	ENST00000274353.5	37	c.1140C>A	CCDS4046.1																																																																																				0.478	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		36	147	1	0	4.0492e-12	1	5.59904e-12	36	147				
PCDHB13	56123	broad.mit.edu	37	5	140595647	140595647	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140595647C>T	ENST00000341948.4	+	1	2139	c.1952C>T	c.(1951-1953)cCg>cTg	p.P651L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	651	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGCCTCCGCGCTCGGCC	0.726																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1951-1953)cCg>cTg									14.0	17.0	16.0					5																	140595647		1657	3328	4985	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595647C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1952C>T	5.37:g.140595647C>T	ENSP00000345491:p.Pro651Leu						p.P651L	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2139	+			651			Cadherin 6.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1952C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	19.46	3.831034	0.71258	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.56941	0.43	3.3	3.3	0.37823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60521	0.2275	M	0.88450	2.955	0.49915	D	0.999835	B	0.33777	0.425	B	0.34242	0.178	T	0.70539	-0.4844	9	0.62326	D	0.03	.	14.5914	0.68368	0.0:1.0:0.0:0.0	.	651	Q9Y5F0	PCDBD_HUMAN	L	651;651;597	ENSP00000345491:P651L	ENSP00000345491:P651L	P	+	2	0	PCDHB13	140575831	0.291000	0.24352	0.331000	0.25455	0.972000	0.66771	4.772000	0.62324	1.576000	0.49790	0.298000	0.19748	CCG		0.726	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		13	64	0	0	0	1	0	13	64				
NCKAP1L	3071	broad.mit.edu	37	12	54902239	54902239	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:54902239C>T	ENST00000293373.6	+	5	509	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L94F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	144					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGTCATTTTACTTCTGTCACG	0.433																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(430-432)Ctt>Ttt		NCK-associated protein 1-like							276.0	251.0	259.0					12																	54902239		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54902239C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.430C>T	12.37:g.54902239C>T	ENSP00000293373:p.Leu144Phe					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L94F	p.L144F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			5	509	+			144					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.430C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966537	0.74131	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.38887	1.11;1.11	5.96	5.96	0.96718	.	0.063272	0.64402	D	0.000005	T	0.52549	0.1741	M	0.64997	1.995	0.45979	D	0.998796	D	0.55385	0.971	P	0.56563	0.801	T	0.43877	-0.9364	10	0.28530	T	0.3	-14.4845	11.2011	0.48741	0.0:0.9173:0.0:0.0827	.	144	P55160	NCKPL_HUMAN	F	144;94	ENSP00000293373:L144F;ENSP00000445596:L94F	ENSP00000293373:L144F	L	+	1	0	NCKAP1L	53188506	0.939000	0.31865	1.000000	0.80357	0.996000	0.88848	1.937000	0.40193	2.826000	0.97356	0.655000	0.94253	CTT		0.433	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		49	149	0	0	0	1	0	49	149				
GRM8	2918	broad.mit.edu	37	7	126173228	126173228	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:126173228G>T	ENST00000339582.2	-	9	3016	c.2208C>A	c.(2206-2208)gcC>gcA	p.A736A	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.A736A|GRM8_ENST00000358373.3_Silent_p.A736A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	736					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GCACTCCCCTGGCCTTCTCTG	0.468										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2206-2208)gcC>gcA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						104.0	89.0	94.0					7																	126173228		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173228G>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2208C>A	7.37:g.126173228G>T		HNSCC(24;0.065)				GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.A736A|GRM8_ENST00000444921.2_Silent_p.A736A	p.A736A			O00222	GRM8_HUMAN			9	3016	-		Prostate(267;0.186)	736					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2208C>A	CCDS5794.1																																																																																				0.468	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			7	24	1	0	8.12818e-05	1	8.96159e-05	7	24				
ACE2	59272	broad.mit.edu	37	X	15603612	15603612	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:15603612C>T	ENST00000252519.3	-	7	988	c.886G>A	c.(886-888)Gca>Aca	p.A296T	ACE2_ENST00000427411.1_Missense_Mutation_p.A296T			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	296					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	TCCACCATTGCATCAGTAACA	0.318																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(886-888)Gca>Aca		angiotensin I converting enzyme 2	Moexipril(DB00691)						136.0	130.0	132.0					X																	15603612		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15603612C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.886G>A	X.37:g.15603612C>T	ENSP00000252519:p.Ala296Thr					ACE2_ENST00000252519.3_Missense_Mutation_p.A296T	p.A296T	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			8	1102	-	Hepatocellular(33;0.183)		296					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.886G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467642	0.26335	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.34472	1.36;1.36	5.64	2.95	0.34219	.	0.601792	0.18115	N	0.151238	T	0.26340	0.0643	L	0.38175	1.15	0.09310	N	1	B	0.12013	0.005	B	0.16722	0.016	T	0.20638	-1.0269	10	0.26408	T	0.33	-0.4682	8.6721	0.34156	0.0:0.699:0.0:0.301	.	296	Q9BYF1	ACE2_HUMAN	T	296	ENSP00000252519:A296T;ENSP00000389326:A296T	ENSP00000252519:A296T	A	-	1	0	ACE2	15513533	0.007000	0.16637	0.001000	0.08648	0.241000	0.25554	0.399000	0.20916	0.199000	0.20427	-0.198000	0.12761	GCA		0.318	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			23	58	0	0	0	1	0	23	58				
GYG1	2992	broad.mit.edu	37	3	148714191	148714191	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:148714191C>A	ENST00000345003.4	+	3	546	c.246C>A	c.(244-246)gtC>gtA	p.V82V	GYG1_ENST00000483267.1_Silent_p.V82V|GYG1_ENST00000484197.1_Silent_p.V82V|GYG1_ENST00000296048.6_Silent_p.V82V	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	82					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGTTGGGTGTCACGCTGACAA	0.443																																						ENST00000345003.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8						c.(244-246)gtC>gtA		glycogenin 1							139.0	138.0	138.0					3																	148714191		2203	4300	6503	SO:0001819	synonymous_variant	2992				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding	g.chr3:148714191C>A	AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.246C>A	3.37:g.148714191C>A						GYG1_ENST00000484197.1_Silent_p.V82V|GYG1_ENST00000296048.6_Silent_p.V82V|GYG1_ENST00000483267.1_Silent_p.V82V	p.V82V	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		3	546	+			82					D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Silent	SNP	ENST00000345003.4	37	c.246C>A	CCDS3139.1																																																																																				0.443	GYG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356046.1	NM_004130		28	99	1	0	3.73148e-12	1	5.16753e-12	28	99				
MAGEC2	51438	broad.mit.edu	37	X	141291252	141291252	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:141291252G>T	ENST00000247452.3	-	3	869	c.522C>A	c.(520-522)taC>taA	p.Y174*		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	174	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGTAATCTTTGTACTTGATGA	0.478										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(520-522)taC>taA		melanoma antigen family C, 2							171.0	163.0	165.0					X																	141291252		2203	4300	6503	SO:0001587	stop_gained	51438					cytoplasm|nucleus		g.chrX:141291252G>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.522C>A	X.37:g.141291252G>T	ENSP00000354660:p.Tyr174*	HNSCC(46;0.14)					p.Y174*	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	869	-	Acute lymphoblastic leukemia(192;6.56e-05)		174			MAGE.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Nonsense_Mutation	SNP	ENST00000247452.3	37	c.522C>A	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	17.90	3.501003	0.64298	.	.	ENSG00000046774	ENST00000247452	.	.	.	0.97	0.00614	0.14065	.	0.078915	0.52532	U	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.1965	0.06635	0.3354:0.0:0.6646:0.0	.	.	.	.	X	174	.	ENSP00000354660:Y174X	Y	-	3	2	MAGEC2	141118918	0.014000	0.17966	0.001000	0.08648	0.008000	0.06430	0.121000	0.15667	-0.058000	0.13177	0.279000	0.19357	TAC		0.478	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		43	149	1	0	4.44401e-20	1	7.16372e-20	43	149				
PLCXD3	345557	broad.mit.edu	37	5	41313828	41313828	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:41313828C>G	ENST00000377801.3	-	3	931	c.857G>C	c.(856-858)gGa>gCa	p.G286A	PLCXD3_ENST00000328457.3_Missense_Mutation_p.G286A			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	286					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCACTCTCTCCTGGCTTCTG	0.438																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(856-858)gGa>gCa		phosphatidylinositol-specific phospholipase C, X domain containing 3							97.0	89.0	92.0					5																	41313828		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313828C>G		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.857G>C	5.37:g.41313828C>G	ENSP00000367032:p.Gly286Ala					PLCXD3_ENST00000328457.3_Missense_Mutation_p.G286A	p.G286A			Q63HM9	PLCX3_HUMAN			3	931	-			286					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.857G>C	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809753	0.90707	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.73646	-0.3917	9	0.17832	T	0.49	-13.6431	19.7362	0.96205	0.0:1.0:0.0:0.0	.	286	Q63HM9	PLCX3_HUMAN	A	286	.	ENSP00000333751:G286A	G	-	2	0	PLCXD3	41349585	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.427000	0.80284	2.678000	0.91216	0.655000	0.94253	GGA		0.438	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		9	47	0	0	0	1	0	9	47				
CCDC105	126402	broad.mit.edu	37	19	15132649	15132649	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:15132649C>T	ENST00000292574.3	+	6	1251	c.1169C>T	c.(1168-1170)gCa>gTa	p.A390V		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	390						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTGGAGACCGCAGAAAAGCTG	0.652																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1168-1170)gCa>gTa		coiled-coil domain containing 105							63.0	70.0	67.0					19																	15132649		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132649C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1169C>T	19.37:g.15132649C>T	ENSP00000292574:p.Ala390Val						p.A390V	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			6	1251	+			390					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.1169C>T	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709668	0.30322	.	.	ENSG00000160994	ENST00000292574	T	0.02606	4.23	3.78	2.74	0.32292	.	0.283146	0.21789	N	0.069098	T	0.01940	0.0061	N	0.08118	0	0.20074	N	0.999931	B	0.26483	0.15	B	0.27262	0.078	T	0.45571	-0.9252	10	0.72032	D	0.01	-0.8512	9.1847	0.37163	0.0:0.2256:0.7744:0.0	.	390	Q8IYK2	CC105_HUMAN	V	390	ENSP00000292574:A390V	ENSP00000292574:A390V	A	+	2	0	CCDC105	14993649	0.991000	0.36638	0.674000	0.29902	0.459000	0.32528	2.024000	0.41049	0.826000	0.34661	-0.252000	0.11476	GCA		0.652	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		28	85	0	0	0	1	0	28	85				
OR5D13	390142	broad.mit.edu	37	11	55541504	55541504	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55541504C>A	ENST00000361760.1	+	1	591	c.591C>A	c.(589-591)agC>agA	p.S197R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CCTATATCAGCCAGAGGCTAT	0.358																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(589-591)agC>agA		olfactory receptor, family 5, subfamily D, member 13							121.0	119.0	120.0					11																	55541504		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541504C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.591C>A	11.37:g.55541504C>A	ENSP00000354800:p.Ser197Arg						p.S197R	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	591	+		all_epithelial(135;0.196)	197					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.591C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028495	0.35797	.	.	ENSG00000198877	ENST00000361760	T	0.00036	8.86	3.3	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	0.536026	0.14129	U	0.339493	T	0.00271	0.0008	M	0.66378	2.025	0.09310	N	1	D	0.53151	0.958	P	0.62298	0.9	T	0.44667	-0.9313	10	0.56958	D	0.05	-0.8968	5.9023	0.18974	0.0:0.3841:0.1367:0.4791	.	197	Q8NGL4	OR5DD_HUMAN	R	197	ENSP00000354800:S197R	ENSP00000354800:S197R	S	+	3	2	OR5D13	55298080	0.000000	0.05858	0.060000	0.19600	0.010000	0.07245	-4.683000	0.00199	-0.367000	0.08052	0.486000	0.48141	AGC		0.358	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		20	77	1	0	1.22574e-08	1	1.54741e-08	20	77				
DPP10	57628	broad.mit.edu	37	2	116599822	116599822	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:116599822G>C	ENST00000410059.1	+	26	2772	c.2292G>C	c.(2290-2292)aaG>aaC	p.K764N	DPP10_ENST00000310323.8_Missense_Mutation_p.K757N|DPP10_ENST00000393147.2_Missense_Mutation_p.K768N|DPP10_ENST00000409163.1_Missense_Mutation_p.K714N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	764						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TATCTGAGAAGAGCAAGTATC	0.368																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(2290-2292)aaG>aaC		dipeptidyl-peptidase 10 (non-functional)							114.0	105.0	108.0					2																	116599822		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116599822G>C	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2292G>C	2.37:g.116599822G>C	ENSP00000386565:p.Lys764Asn					DPP10_ENST00000409163.1_Missense_Mutation_p.K714N|DPP10_ENST00000310323.8_Missense_Mutation_p.K757N|DPP10_ENST00000393147.2_Missense_Mutation_p.K768N	p.K764N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			26	2772	+			764					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.2292G>C	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688197	0.29962	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.73	-2.58	0.06228	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.173918	0.49916	D	0.000135	T	0.18299	0.0439	N	0.02697	-0.525	0.45108	D	0.99812	B;P;B;B	0.49185	0.169;0.92;0.203;0.203	B;P;B;B	0.53313	0.036;0.723;0.06;0.06	T	0.03112	-1.1071	10	0.23891	T	0.37	-16.9954	13.4275	0.61035	0.5393:0.0:0.4607:0.0	.	757;768;760;764	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	764;714;768;757	ENSP00000386565:K764N;ENSP00000387038:K714N;ENSP00000376855:K768N;ENSP00000309066:K757N	ENSP00000309066:K757N	K	+	3	2	DPP10	116316292	0.994000	0.37717	0.977000	0.42913	0.870000	0.49936	0.191000	0.17076	-0.463000	0.06973	-0.940000	0.02684	AAG		0.368	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		6	27	0	0	0	1	0	6	27				
PRKD1	5587	broad.mit.edu	37	14	30105519	30105519	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:30105519G>T	ENST00000331968.5	-	7	1396	c.1167C>A	c.(1165-1167)caC>caA	p.H389Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.H397Q|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	389					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGGCGTCCTCGTGGTCTGGGT	0.507																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(1165-1167)caC>caA		protein kinase D1							330.0	259.0	283.0					14																	30105519		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30105519G>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1167C>A	14.37:g.30105519G>T	ENSP00000333568:p.His389Gln					PRKD1_ENST00000415220.2_Missense_Mutation_p.H397Q	p.H389Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	7	1396	-	Hepatocellular(127;0.0604)		389					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.1167C>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	7.914	0.737188	0.15574	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.64085	-0.08;-0.07	6.17	-11.5	0.00074	.	0.533626	0.20563	N	0.089865	T	0.22781	0.0550	N	0.08118	0	0.20563	N	0.99989	B	0.06786	0.001	B	0.01281	0.0	T	0.15206	-1.0445	10	0.20046	T	0.44	-1.611	1.2528	0.01985	0.4183:0.1426:0.1927:0.2465	.	389	Q15139	KPCD1_HUMAN	Q	389;397	ENSP00000333568:H389Q;ENSP00000390535:H397Q	ENSP00000333568:H389Q	H	-	3	2	PRKD1	29175270	0.000000	0.05858	0.081000	0.20488	0.937000	0.57800	-6.485000	0.00064	-2.469000	0.00531	0.655000	0.94253	CAC		0.507	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		46	242	1	0	8.44121e-28	1	1.39517e-27	46	242				
VCPIP1	80124	broad.mit.edu	37	8	67546742	67546742	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:67546742G>A	ENST00000310421.4	-	3	3921	c.3663C>T	c.(3661-3663)caC>caT	p.H1221H		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1221					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAAATCAAGAGTGATCCATTG	0.388																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(3661-3663)caC>caT		valosin containing protein (p97)/p47 complex interacting protein 1							173.0	155.0	161.0					8																	67546742		2203	4300	6503	SO:0001819	synonymous_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67546742G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3663C>T	8.37:g.67546742G>A							p.H1221H	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		3	3921	-		Lung NSC(129;0.142)|all_lung(136;0.227)	1221					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Silent	SNP	ENST00000310421.4	37	c.3663C>T	CCDS6192.1																																																																																				0.388	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			37	61	0	0	0	1	0	37	61				
RYR2	6262	broad.mit.edu	37	1	237870370	237870370	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:237870370C>G	ENST00000366574.2	+	68	10019	c.9702C>G	c.(9700-9702)gtC>gtG	p.V3234V	RYR2_ENST00000360064.6_Silent_p.V3232V|RYR2_ENST00000542537.1_Silent_p.V3218V|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3234					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCCACATGTCATGGAAGTCA	0.502																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(9700-9702)gtC>gtG		ryanodine receptor 2 (cardiac)							115.0	112.0	113.0					1																	237870370		2040	4212	6252	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237870370C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9702C>G	1.37:g.237870370C>G						RYR2_ENST00000542537.1_Silent_p.V3218V|RYR2_ENST00000360064.6_Silent_p.V3232V	p.V3234V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		68	10019	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3234					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.9702C>G	CCDS55691.1																																																																																				0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		20	76	0	0	0	1	0	20	76				
USP29	57663	broad.mit.edu	37	19	57641807	57641807	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:57641807T>A	ENST00000254181.4	+	4	2218	c.1764T>A	c.(1762-1764)agT>agA	p.S588R	USP29_ENST00000598197.1_Missense_Mutation_p.S588R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	588	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAATCCAGTGATTCCCTGG	0.488																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1762-1764)agT>agA		ubiquitin specific peptidase 29							72.0	71.0	71.0					19																	57641807		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641807T>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1764T>A	19.37:g.57641807T>A	ENSP00000254181:p.Ser588Arg					USP29_ENST00000598197.1_Missense_Mutation_p.S588R	p.S588R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2218	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	588						Missense_Mutation	SNP	ENST00000254181.4	37	c.1764T>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.267979	0.23136	.	.	ENSG00000131864	ENST00000254181	T	0.49139	0.79	2.28	-1.37	0.09056	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.30262	0.0759	L	0.36672	1.1	0.09310	N	1	B	0.25272	0.122	B	0.30029	0.11	T	0.29212	-1.0019	9	0.30078	T	0.28	-0.0168	0.1838	0.00126	0.2355:0.1622:0.2438:0.3585	.	588	Q9HBJ7	UBP29_HUMAN	R	588	ENSP00000254181:S588R	ENSP00000254181:S588R	S	+	3	2	USP29	62333619	0.001000	0.12720	0.000000	0.03702	0.265000	0.26407	-0.111000	0.10807	-0.452000	0.07087	0.383000	0.25322	AGT		0.488	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			14	63	0	0	0	1	0	14	63				
OR10S1	219873	broad.mit.edu	37	11	123847811	123847811	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:123847811G>T	ENST00000531945.1	-	1	677	c.588C>A	c.(586-588)ccC>ccA	p.P196P		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTAGGACAGGGGGTATGTCGC	0.567																																						ENST00000531945.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(586-588)ccC>ccA		olfactory receptor, family 10, subfamily S, member 1							90.0	74.0	79.0					11																	123847811		2202	4299	6501	SO:0001819	synonymous_variant	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847811G>T	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.588C>A	11.37:g.123847811G>T							p.P196P	NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	677	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	196					B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	c.588C>A	CCDS31701.1																																																																																				0.567	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474		16	41	1	0	7.81268e-19	1	1.23757e-18	16	41				
MICALL2	79778	broad.mit.edu	37	7	1478575	1478575	+	Missense_Mutation	SNP	C	C	T	rs142157538	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:1478575C>T	ENST00000297508.7	-	10	2198	c.2023G>A	c.(2023-2025)Gtt>Att	p.V675I	MICALL2_ENST00000405088.4_Missense_Mutation_p.V463I|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	675	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTGTCACAAACGTCGAGGCTG	0.677													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16974	0.0		0.0	False		,,,				2504	0.0					ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(2023-2025)Gtt>Att		MICAL-like 2							36.0	38.0	37.0					7																	1478575		2202	4300	6502	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1478575C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2023G>A	7.37:g.1478575C>T	ENSP00000297508:p.Val675Ile					MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.V463I	p.V675I	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	10	2198	-		Ovarian(82;0.0253)	675					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.2023G>A	CCDS5324.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	3.928	-0.016789	0.07681	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.69561	2.42;-0.41	3.22	-1.43	0.08884	.	0.264210	0.19816	N	0.105431	T	0.44371	0.1290	L	0.34521	1.04	0.09310	N	1	B;P	0.52316	0.251;0.952	B;B	0.39660	0.008;0.306	T	0.43556	-0.9384	10	0.39692	T	0.17	.	3.8714	0.09038	0.0:0.3381:0.4017:0.2603	.	675;463	Q8IY33;D3YTD2	MILK2_HUMAN;.	I	463;675	ENSP00000385928:V463I;ENSP00000297508:V675I	ENSP00000297508:V675I	V	-	1	0	MICALL2	1445101	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.092000	0.03366	-0.102000	0.12197	-0.379000	0.06801	GTT		0.677	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		18	43	0	0	0	1	0	18	43				
LILRP2	79166	broad.mit.edu	37	19	55221608	55221608	+	RNA	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:55221608A>T	ENST00000413439.1	+	0	1388									leukocyte immunoglobulin-like receptor pseudogene 2																		GTCGGCCCCCAGTGACCCCCT	0.667																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			79166							g.chr19:55221608A>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221608A>T														0	1388	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.667	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		6	56	0	0	0	1	0	6	56				
IRF2	3660	broad.mit.edu	37	4	185329416	185329416	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:185329416T>A	ENST00000393593.3	-	6	632	c.425A>T	c.(424-426)gAg>gTg	p.E142V	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	142					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGAGATGACTCAACTGGTTC	0.413																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(424-426)gAg>gTg		interferon regulatory factor 2							110.0	103.0	106.0					4																	185329416		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185329416T>A		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.425A>T	4.37:g.185329416T>A	ENSP00000377218:p.Glu142Val					IRF2_ENST00000512020.1_5'UTR	p.E142V	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	6	632	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	142					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.425A>T	CCDS3835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.47|15.47	2.843406|2.843406	0.51057|0.51057	.|.	.|.	ENSG00000168310|ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814|ENST00000505067	D;D;D|.	0.98249|.	-4.82;-4.81;-4.76|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|.	.|.	.|.	.|.	T|.	0.61602|.	0.2360|.	L|L	0.47716|0.47716	1.5|1.5	0.51482|0.51482	D|D	0.999923|0.999923	B|.	0.23058|.	0.079|.	B|.	0.21546|.	0.035|.	T|.	0.59461|.	-0.7450|.	9|.	0.66056|.	D|.	0.02|.	-12.0423|-12.0423	13.8917|13.8917	0.63742|0.63742	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	142|.	P14316|.	IRF2_HUMAN|.	V|C	142|40	ENSP00000377218:E142V;ENSP00000427204:E142V;ENSP00000424552:E142V|.	ENSP00000377218:E142V|.	E|X	-|-	2|3	0|0	IRF2|IRF2	185566410|185566410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.892000|4.892000	0.63193|0.63193	2.016000|2.016000	0.59253|0.59253	0.374000|0.374000	0.22700|0.22700	GAG|TGA		0.413	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			16	71	0	0	0	1	0	16	71				
HAS1	3036	broad.mit.edu	37	19	52216930	52216930	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:52216930A>G	ENST00000222115.1	-	5	1521	c.1487T>C	c.(1486-1488)cTg>cCg	p.L496P	HAS1_ENST00000540069.2_Missense_Mutation_p.L495P|HAS1_ENST00000601714.1_Missense_Mutation_p.L503P	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	496					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTTAGCGGCCAGCTTCCGCCG	0.687																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1483-1485)cTg>cCg		hyaluronan synthase 1																																				SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52216930A>G	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1487T>C	19.37:g.52216930A>G	ENSP00000222115:p.Leu496Pro					HAS1_ENST00000601714.1_Missense_Mutation_p.L503P|HAS1_ENST00000222115.1_Missense_Mutation_p.L496P	p.L495P			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1544	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	496					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1484T>C	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	a	17.53	3.411780	0.62399	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.34472	1.36;1.36	3.31	3.31	0.37934	.	0.247257	0.35466	U	0.003191	T	0.42562	0.1208	L	0.29908	0.895	0.58432	D	0.999998	D;D;D	0.69078	0.997;0.995;0.995	D;P;P	0.65443	0.935;0.862;0.862	T	0.38001	-0.9681	10	0.72032	D	0.01	-34.2261	9.9446	0.41600	1.0:0.0:0.0:0.0	.	495;496;495	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	P	495;496	ENSP00000445021:L495P;ENSP00000222115:L496P	ENSP00000222115:L496P	L	-	2	0	HAS1	56908742	1.000000	0.71417	0.982000	0.44146	0.738000	0.42128	8.710000	0.91388	1.515000	0.48885	0.147000	0.16070	CTG		0.687	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		3	6	0	0	0	1	0	3	6				
ADRA2C	152	broad.mit.edu	37	4	3768876	3768876	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:3768876C>T	ENST00000330055.5	+	1	752	c.543C>T	c.(541-543)gtC>gtT	p.V181V	ADRA2C_ENST00000509482.1_Silent_p.V181V	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	181					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCTCGGCCGTCATCTCCTTCC	0.672																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(541-543)gtC>gtT		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						25.0	26.0	25.0					4																	3768876		2197	4296	6493	SO:0001819	synonymous_variant	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768876C>T	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.543C>T	4.37:g.3768876C>T						ADRA2C_ENST00000509482.1_Silent_p.V181V	p.V181V	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	752	+			181					P35369|Q9HB49	Silent	SNP	ENST00000330055.5	37	c.543C>T	CCDS47004.1																																																																																				0.672	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		9	28	0	0	0	1	0	9	28				
PGM5	5239	broad.mit.edu	37	9	71114261	71114261	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:71114261A>T	ENST00000396396.1	+	10	1827	c.1598A>T	c.(1597-1599)cAt>cTt	p.H533L		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	533					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCCAGCGGCCATGACCAGGAG	0.587																																						ENST00000396396.1																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(1597-1599)cAt>cTt		phosphoglucomutase 5							61.0	58.0	59.0					9																	71114261		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71114261A>T	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1598A>T	9.37:g.71114261A>T	ENSP00000379678:p.His533Leu						p.H533L	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			10	1827	+			533					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1598A>T	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	A	8.188	0.795418	0.16327	.	.	ENSG00000154330	ENST00000396396	T	0.38887	1.11	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	L	0.28274	0.84	0.48696	D	0.999693	B	0.28439	0.212	B	0.25140	0.058	T	0.09465	-1.0673	10	0.10636	T	0.68	.	14.9151	0.70789	1.0:0.0:0.0:0.0	.	533	Q15124	PGM5_HUMAN	L	533	ENSP00000379678:H533L	ENSP00000379678:H533L	H	+	2	0	PGM5	70304081	0.604000	0.26932	0.560000	0.28344	0.986000	0.74619	2.913000	0.48790	2.169000	0.68431	0.529000	0.55759	CAT		0.587	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		20	33	0	0	0	1	0	20	33				
TOPBP1	11073	broad.mit.edu	37	3	133368380	133368380	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:133368380C>T	ENST00000260810.5	-	10	1482	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	451					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACTGGAATTTCCACTGGCTGG	0.393								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1351-1353)Gaa>Aaa	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							156.0	147.0	150.0					3																	133368380		1843	4097	5940	SO:0001583	missense	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133368380C>T	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1351G>A	3.37:g.133368380C>T	ENSP00000260810:p.Glu451Lys					TOPBP1_ENST00000511439.1_5'UTR	p.E451K	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			10	1482	-			451					B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	c.1351G>A	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171225	0.38315	.	.	ENSG00000163781	ENST00000260810	T	0.12879	2.64	5.72	5.72	0.89469	.	0.421458	0.27531	N	0.018960	T	0.13756	0.0333	L	0.50333	1.59	0.31552	N	0.658619	B	0.19200	0.034	B	0.22152	0.038	T	0.11665	-1.0578	10	0.09084	T	0.74	.	14.0875	0.64968	0.0:0.9285:0.0:0.0715	.	451	Q92547	TOPB1_HUMAN	K	451	ENSP00000260810:E451K	ENSP00000260810:E451K	E	-	1	0	TOPBP1	134851070	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.249000	0.51437	2.707000	0.92482	0.650000	0.86243	GAA		0.393	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		40	77	0	0	0	1	0	40	77				
OR52B2	255725	broad.mit.edu	37	11	6190924	6190924	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:6190924C>A	ENST00000530810.1	-	1	714	c.633G>T	c.(631-633)ttG>ttT	p.L211F	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATAACATCCAAGATGACCA	0.507																																					NSCLC(5;186 261 1778 7098 14207)	ENST00000530810.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(631-633)ttG>ttT		olfactory receptor, family 52, subfamily B, member 2							56.0	57.0	56.0					11																	6190924		2088	4224	6312	SO:0001583	missense	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6190924C>A	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.633G>T	11.37:g.6190924C>A	ENSP00000432011:p.Leu211Phe					RP11-290F24.3_ENST00000529961.1_RNA	p.L211F	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	714	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	211					Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	c.633G>T	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867042	0.32977	.	.	ENSG00000255307	ENST00000530810	T	0.42900	0.96	5.32	0.922	0.19408	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28001	0.0690	L	0.49350	1.555	0.18873	N	0.999986	P	0.38335	0.627	B	0.37650	0.255	T	0.15896	-1.0421	9	0.06757	T	0.87	.	3.4995	0.07668	0.1306:0.4939:0.2292:0.1463	.	211	Q96RD2	O52B2_HUMAN	F	211	ENSP00000432011:L211F	ENSP00000432011:L211F	L	-	3	2	OR52B2	6147500	0.000000	0.05858	0.999000	0.59377	0.991000	0.79684	-0.684000	0.05173	0.359000	0.24239	0.551000	0.68910	TTG		0.507	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		10	31	1	0	0.000442599	1	0.000478175	10	31				
TTN	7273	broad.mit.edu	37	2	179436938	179436938	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179436938C>T	ENST00000591111.1	-	276	69222	c.68998G>A	c.(68998-69000)Gag>Aag	p.E23000K	TTN_ENST00000342175.6_Missense_Mutation_p.E15768K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15701K|TTN_ENST00000460472.2_Missense_Mutation_p.E15576K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E24641K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22073K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23000	Fibronectin type-III 67. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CCATCATGCTCTGGTTTCTCC	0.483																																						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.(73921-73923)Gag>Aag		titin							89.0	84.0	85.0					2																	179436938		2053	4202	6255	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436938C>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.68998G>A	2.37:g.179436938C>T	ENSP00000465570:p.Glu23000Lys					TTN_ENST00000359218.5_Missense_Mutation_p.E15701K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22073K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E15768K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23000K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E15576K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.E24641K	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	74145	-			23000			Ig-like 122.		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.73921G>A		.	.	.	.	.	.	.	.	.	.	C	16.04	3.010868	0.54361	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51787	0.1695	L	0.41961	1.31	0.80722	D	1	P;P;P;P	0.40230	0.708;0.708;0.708;0.566	B;B;B;B	0.39465	0.3;0.3;0.3;0.225	T	0.55341	-0.8156	9	0.87932	D	0	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	15576;15701;15768;23000	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	22073;15576;15768;15701;15574	ENSP00000343764:E22073K;ENSP00000434586:E15576K;ENSP00000340554:E15768K;ENSP00000352154:E15701K	ENSP00000340554:E15768K	E	-	1	0	TTN	179145184	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.818000	0.86416	2.821000	0.97095	0.555000	0.69702	GAG		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	33	0	0	0	1	0	11	33				
COL6A6	131873	broad.mit.edu	37	3	130287443	130287443	+	Missense_Mutation	SNP	G	G	T	rs373377669	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:130287443G>T	ENST00000358511.6	+	5	2427	c.2396G>T	c.(2395-2397)cGt>cTt	p.R799L	COL6A6_ENST00000453409.2_Missense_Mutation_p.R799L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	799	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGCAGCCCCCGTGAAGGTAGG	0.403													G|||	24	0.00479233	0.0	0.0	5008	,	,		19962	0.0		0.0	False		,,,				2504	0.0245					ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2395-2397)cGt>cTt		collagen, type VI, alpha 6							83.0	83.0	83.0					3																	130287443		1871	4107	5978	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287443G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2396G>T	3.37:g.130287443G>T	ENSP00000351310:p.Arg799Leu					COL6A6_ENST00000453409.2_Missense_Mutation_p.R799L	p.R799L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			5	2427	+			799			Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2396G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040675	0.19669	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.76709	-1.04;-1.04	5.47	-1.79	0.07932	.	0.385199	0.22544	N	0.058691	T	0.57475	0.2056	N	0.20986	0.625	0.09310	N	1	B	0.22146	0.065	B	0.22601	0.04	T	0.44620	-0.9316	10	0.07030	T	0.85	.	12.3541	0.55165	0.7487:0.0:0.2513:0.0	.	799	A6NMZ7	CO6A6_HUMAN	L	799	ENSP00000351310:R799L;ENSP00000399236:R799L	ENSP00000351310:R799L	R	+	2	0	COL6A6	131770133	0.000000	0.05858	0.739000	0.30968	0.791000	0.44710	-0.349000	0.07731	-0.467000	0.06932	-0.254000	0.11334	CGT		0.403	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		20	37	1	0	1.28384e-07	1	1.56249e-07	20	37				
GABRQ	55879	broad.mit.edu	37	X	151821293	151821293	+	Missense_Mutation	SNP	G	G	T	rs368659256		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:151821293G>T	ENST00000370306.2	+	9	1468	c.1448G>T	c.(1447-1449)cGc>cTc	p.R483L		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	483					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACCGAAATCCGCAACCGTGTC	0.557																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1447-1449)cGc>cTc		gamma-aminobutyric acid (GABA) A receptor, theta							125.0	108.0	114.0					X																	151821293		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821293G>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1448G>T	X.37:g.151821293G>T	ENSP00000359329:p.Arg483Leu						p.R483L	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			9	1468	+	Acute lymphoblastic leukemia(192;6.56e-05)		483					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1448G>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291834	0.23564	.	.	ENSG00000147402	ENST00000370306	T	0.79247	-1.25	4.59	-4.05	0.03998	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.247910	0.01596	N	0.021808	T	0.57257	0.2041	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.34700	-0.9818	10	0.44086	T	0.13	.	0.4749	0.00538	0.354:0.1202:0.2221:0.3037	.	483	Q9UN88	GBRT_HUMAN	L	483	ENSP00000359329:R483L	ENSP00000359329:R483L	R	+	2	0	GABRQ	151571949	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-1.299000	0.02754	-1.178000	0.02741	0.600000	0.82982	CGC		0.557	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		38	167	1	0	1.30998e-17	1	2.03627e-17	38	167				
LENG8	114823	broad.mit.edu	37	19	54968077	54968077	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:54968077C>T	ENST00000326764.5	+	11	2187	c.1708C>T	c.(1708-1710)Ccg>Tcg	p.P570S	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	533										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCCCCCGACCCGTCCACCGT	0.667																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1708-1710)Ccg>Tcg		leukocyte receptor cluster (LRC) member 8							34.0	31.0	32.0					19																	54968077		2203	4298	6501	SO:0001583	missense	114823						protein binding	g.chr19:54968077C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1708C>T	19.37:g.54968077C>T	ENSP00000318374:p.Pro570Ser					LENG8_ENST00000376514.2_Intron	p.P570S	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	11	2187	+	Ovarian(34;0.19)		533					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1708C>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728031	0.89390	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.41065	1.01;1.01;1.01	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	M	0.91510	3.215	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.78314	0.991;0.953	T	0.78653	-0.2120	10	0.72032	D	0.01	-32.9077	15.0693	0.72024	0.0:1.0:0.0:0.0	.	570;533	Q96PV6-2;F8W9Q9	.;.	S	570;533;533;570	ENSP00000318374:P570S;ENSP00000365709:P533S;ENSP00000388053:P570S	ENSP00000301196:P533S	P	+	1	0	LENG8	59659889	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.948000	0.63590	2.345000	0.79718	0.561000	0.74099	CCG		0.667	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		10	30	0	0	0	1	0	10	30				
HTR5A	3361	broad.mit.edu	37	7	154863245	154863245	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:154863245G>T	ENST00000287907.2	+	1	1212	c.636G>T	c.(634-636)ccG>ccT	p.P212P	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	212					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TCTACCTGCCGCTCTGTGTGG	0.597																																						ENST00000287907.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(634-636)ccG>ccT		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							73.0	68.0	70.0					7																	154863245		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154863245G>T		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.636G>T	7.37:g.154863245G>T						AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR	p.P212P	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	1212	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	212					Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.636G>T	CCDS5936.1																																																																																				0.597	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		8	36	1	0	0.000157383	1	0.000171862	8	36				
ADAMTS14	140766	broad.mit.edu	37	10	72462206	72462206	+	Missense_Mutation	SNP	G	G	T	rs377541226		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:72462206G>T	ENST00000373207.1	+	3	661	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.G221W	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	221					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGAACCTGACGGGGACCTGCA	0.622																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(661-663)Ggg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 14							58.0	60.0	60.0					10																	72462206		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72462206G>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.661G>T	10.37:g.72462206G>T	ENSP00000362303:p.Gly221Trp					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G221W	p.G221W	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			3	661	+			221					Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.661G>T	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855933	0.32791	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.63913	-0.07;-0.05	5.94	-0.692	0.11301	.	0.702099	0.13276	N	0.400130	T	0.62405	0.2425	L	0.60455	1.87	0.09310	N	1	D;D	0.60575	0.979;0.988	P;P	0.52881	0.712;0.712	T	0.54741	-0.8248	10	0.66056	D	0.02	.	6.2119	0.20633	0.2728:0.3457:0.3815:0.0	.	221;221	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	W	221	ENSP00000362304:G221W;ENSP00000362303:G221W	ENSP00000362303:G221W	G	+	1	0	ADAMTS14	72132212	0.307000	0.24500	0.019000	0.16419	0.341000	0.28922	0.596000	0.24044	-0.084000	0.12595	-0.304000	0.09214	GGG		0.622	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		7	74	1	0	0.00307968	1	0.00322431	7	74				
ITIH6	347365	broad.mit.edu	37	X	54814944	54814944	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:54814944A>T	ENST00000218436.6	-	5	784	c.755T>A	c.(754-756)gTg>gAg	p.V252E	ITIH6_ENST00000498398.1_5'UTR	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	252					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTCCATGACCACATCGTACTG	0.572																																						ENST00000218436.6																			0											c.(754-756)gTg>gAg		inter-alpha-trypsin inhibitor heavy chain family, member 6							161.0	96.0	118.0					X																	54814944		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54814944A>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.755T>A	X.37:g.54814944A>T	ENSP00000218436:p.Val252Glu					ITIH6_ENST00000498398.1_5'UTR	p.V252E	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			5	784	-			252					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.755T>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087995	0.36855	.	.	ENSG00000102313	ENST00000218436	T	0.03831	3.79	4.26	3.09	0.35607	.	0.000000	0.64402	U	0.000007	T	0.10723	0.0262	M	0.91612	3.225	0.37806	D	0.927869	P	0.37061	0.58	B	0.36504	0.226	T	0.01600	-1.1315	10	0.66056	D	0.02	.	6.6664	0.23042	0.8833:0.0:0.1167:0.0	.	252	Q6UXX5	ITH5L_HUMAN	E	252	ENSP00000218436:V252E	ENSP00000218436:V252E	V	-	2	0	ITIH5L	54831669	1.000000	0.71417	0.004000	0.12327	0.066000	0.16364	3.093000	0.50217	0.401000	0.25424	0.143000	0.16000	GTG		0.572	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		12	43	0	0	0	1	0	12	43				
ACSS3	79611	broad.mit.edu	37	12	81545826	81545826	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:81545826A>G	ENST00000548058.1	+	7	1959	c.1049A>G	c.(1048-1050)tAt>tGt	p.Y350C	ACSS3_ENST00000548324.1_Missense_Mutation_p.Y32C|ACSS3_ENST00000261206.3_Missense_Mutation_p.Y349C			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	350						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGACATTCCTATATCTGCTAT	0.299																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1048-1050)tAt>tGt		acyl-CoA synthetase short-chain family member 3							108.0	106.0	107.0					12																	81545826		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81545826A>G		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1049A>G	12.37:g.81545826A>G	ENSP00000449535:p.Tyr350Cys					ACSS3_ENST00000261206.3_Missense_Mutation_p.Y349C|ACSS3_ENST00000548324.1_Missense_Mutation_p.Y32C	p.Y350C			Q9H6R3	ACSS3_HUMAN			7	1959	+			350					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1049A>G	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437829	0.83885	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.51071	2.79;2.79;0.72	5.74	5.74	0.90152	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.80391	0.4614	H	0.98351	4.21	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.65684	0.937;0.88	D	0.88363	0.2989	10	0.87932	D	0	-9.8379	16.0325	0.80588	1.0:0.0:0.0:0.0	.	32;350	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	C	350;349;32	ENSP00000449535:Y350C;ENSP00000261206:Y349C;ENSP00000448965:Y32C	ENSP00000261206:Y349C	Y	+	2	0	ACSS3	80069957	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.297000	0.96120	2.193000	0.70182	0.455000	0.32223	TAT		0.299	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		14	69	0	0	0	1	0	14	69				
NLRP2	55655	broad.mit.edu	37	19	55501470	55501470	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:55501470T>C	ENST00000543010.1	+	9	2590	c.2447T>C	c.(2446-2448)gTa>gCa	p.V816A	NLRP2_ENST00000391721.4_Missense_Mutation_p.V792A|NLRP2_ENST00000538819.1_Missense_Mutation_p.V792A|NLRP2_ENST00000537859.1_Missense_Mutation_p.V794A|NLRP2_ENST00000263437.6_Missense_Mutation_p.V813A|NLRP2_ENST00000339757.7_Missense_Mutation_p.V794A|NLRP2_ENST00000427260.2_Missense_Mutation_p.V793A|NLRP2_ENST00000448584.2_Missense_Mutation_p.V816A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	816					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGACGTGCGTAAACCTCTCC	0.517																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2446-2448)gTa>gCa		NLR family, pyrin domain containing 2							141.0	118.0	126.0					19																	55501470		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55501470T>C	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2447T>C	19.37:g.55501470T>C	ENSP00000445135:p.Val816Ala					NLRP2_ENST00000339757.7_Missense_Mutation_p.V794A|NLRP2_ENST00000263437.6_Missense_Mutation_p.V813A|NLRP2_ENST00000391721.4_Missense_Mutation_p.V792A|NLRP2_ENST00000537859.1_Missense_Mutation_p.V794A|NLRP2_ENST00000427260.2_Missense_Mutation_p.V793A|NLRP2_ENST00000448584.2_Missense_Mutation_p.V816A|NLRP2_ENST00000538819.1_Missense_Mutation_p.V792A	p.V816A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	9	2590	+			816					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.2447T>C	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172655	0.38413	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	2.55	2.55	0.30701	.	.	.	.	.	T	0.51007	0.1649	L	0.29908	0.895	0.09310	N	1	P;P;P;P;P	0.40834	0.596;0.73;0.644;0.591;0.644	P;B;P;P;P	0.52343	0.481;0.349;0.696;0.57;0.696	T	0.40961	-0.9535	9	0.87932	D	0	.	7.0077	0.24846	0.0:0.0:0.0:1.0	.	793;794;813;792;816	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	A	816;792;794;816;794;793;792;813	ENSP00000445135:V816A;ENSP00000375601:V792A;ENSP00000344074:V794A;ENSP00000409370:V816A;ENSP00000440601:V794A;ENSP00000402474:V793A;ENSP00000441133:V792A;ENSP00000263437:V813A	ENSP00000263437:V813A	V	+	2	0	NLRP2	60193282	0.031000	0.19500	0.002000	0.10522	0.002000	0.02628	2.901000	0.48695	1.410000	0.46936	0.533000	0.62120	GTA		0.517	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		22	59	0	0	0	1	0	22	59				
UBN1	29855	broad.mit.edu	37	16	4910698	4910698	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:4910698G>C	ENST00000396658.4	+	6	1408	c.705G>C	c.(703-705)aaG>aaC	p.K235N	UBN1_ENST00000262376.6_Missense_Mutation_p.K235N|UBN1_ENST00000545171.1_Missense_Mutation_p.K235N|UBN1_ENST00000590769.1_Missense_Mutation_p.K235N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	235	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGGAGAAGAAGAAGAAGAAAT	0.453																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(703-705)aaG>aaC		ubinuclein 1							131.0	145.0	140.0					16																	4910698		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910698G>C	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.705G>C	16.37:g.4910698G>C	ENSP00000379894:p.Lys235Asn					UBN1_ENST00000590769.1_Missense_Mutation_p.K235N|UBN1_ENST00000545171.1_Missense_Mutation_p.K235N|UBN1_ENST00000262376.6_Missense_Mutation_p.K235N	p.K235N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1408	+			235			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.705G>C	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586670	0.66105	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.58210	0.95;0.35;0.95	5.77	4.76	0.60689	.	0.108147	0.64402	D	0.000006	T	0.68961	0.3058	M	0.65975	2.015	0.51482	D	0.999927	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.972	T	0.69206	-0.5206	10	0.40728	T	0.16	-20.6113	13.9068	0.63841	0.0789:0.0:0.9211:0.0	.	235;235	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	N	235	ENSP00000262376:K235N;ENSP00000442379:K235N;ENSP00000379894:K235N	ENSP00000262376:K235N	K	+	3	2	UBN1	4850699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.085000	0.64468	1.442000	0.47568	0.655000	0.94253	AAG		0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		44	165	0	0	0	1	0	44	165				
MINPP1	9562	broad.mit.edu	37	10	89312134	89312134	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:89312134T>A	ENST00000371996.4	+	5	1404	c.1363T>A	c.(1363-1365)Tat>Aat	p.Y455N	MINPP1_ENST00000536010.1_Missense_Mutation_p.Y254N|MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000472891.1_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	455					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TGTTTCATTTTATGAAGATCT	0.373																																						ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(1363-1365)Tat>Aat		multiple inositol-polyphosphate phosphatase 1							102.0	104.0	103.0					10																	89312134		2203	4300	6503	SO:0001583	missense	9562				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89312134T>A	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.1363T>A	10.37:g.89312134T>A	ENSP00000361064:p.Tyr455Asn					MINPP1_ENST00000536010.1_Missense_Mutation_p.Y254N|MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR	p.Y455N	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	5	1404	+		Colorectal(252;0.122)	455					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Missense_Mutation	SNP	ENST00000371996.4	37	c.1363T>A	CCDS7384.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.354443	0.82243	.	.	ENSG00000107789	ENST00000371996;ENST00000546140;ENST00000536010	T;T	0.78003	-1.14;-1.14	6.05	6.05	0.98169	.	0.114307	0.64402	D	0.000008	T	0.82047	0.4952	L	0.34521	1.04	0.58432	D	0.999998	D	0.76494	0.999	D	0.67103	0.949	T	0.83154	-0.0102	10	0.54805	T	0.06	-19.8408	15.7743	0.78198	0.0:0.0:0.0:1.0	.	455	Q9UNW1	MINP1_HUMAN	N	455;314;254	ENSP00000361064:Y455N;ENSP00000437823:Y254N	ENSP00000361064:Y455N	Y	+	1	0	MINPP1	89302114	1.000000	0.71417	0.957000	0.39632	0.828000	0.46876	7.379000	0.79691	2.320000	0.78422	0.528000	0.53228	TAT		0.373	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			28	82	0	0	0	1	0	28	82				
GHR	2690	broad.mit.edu	37	5	42719312	42719312	+	Missense_Mutation	SNP	C	C	A	rs201228420		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:42719312C>A	ENST00000230882.4	+	10	1893	c.1703C>A	c.(1702-1704)aCc>aAc	p.T568N	GHR_ENST00000537449.1_Missense_Mutation_p.T381N|GHR_ENST00000357703.3_Missense_Mutation_p.T546N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	568					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATTTACATCACCACAGAAAGC	0.483																																						ENST00000230882.4																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1702-1704)aCc>aAc		growth hormone receptor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						118.0	97.0	104.0					5																	42719312		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42719312C>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1703C>A	5.37:g.42719312C>A	ENSP00000230882:p.Thr568Asn					GHR_ENST00000537449.1_Missense_Mutation_p.T381N|GHR_ENST00000357703.3_Missense_Mutation_p.T546N	p.T568N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN			10	1893	+		Myeloproliferative disorder(839;0.00878)	568					Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1703C>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633756	0.47049	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.40476	1.03;1.03;1.03	6.08	6.08	0.98989	.	0.130408	0.64402	D	0.000001	T	0.65913	0.2737	M	0.83953	2.67	0.58432	D	0.999996	D	0.71674	0.998	D	0.76575	0.988	T	0.62909	-0.6754	10	0.29301	T	0.29	-18.3724	14.7773	0.69740	0.0:0.9316:0.0:0.0684	.	568	P10912	GHR_HUMAN	N	568;546;381	ENSP00000230882:T568N;ENSP00000350335:T546N;ENSP00000442206:T381N	ENSP00000230882:T568N	T	+	2	0	GHR	42755069	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.362000	0.52314	2.894000	0.99253	0.591000	0.81541	ACC		0.483	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		12	29	1	0	2.27111e-07	1	2.74576e-07	12	29				
GABRB2	2561	broad.mit.edu	37	5	160721245	160721245	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:160721245G>C	ENST00000393959.1	-	10	1381	c.1382C>G	c.(1381-1383)gCg>gGg	p.A461G	GABRB2_ENST00000517901.1_Missense_Mutation_p.A360G|GABRB2_ENST00000274547.2_Missense_Mutation_p.A461G|GABRB2_ENST00000353437.6_Missense_Mutation_p.A423G|GABRB2_ENST00000517547.1_Missense_Mutation_p.A263G|GABRB2_ENST00000520240.1_Missense_Mutation_p.A423G			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	461					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCTTTTGCGCCACATGTCG	0.517																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1381-1383)gCg>gGg		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						110.0	98.0	102.0					5																	160721245		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160721245G>C		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1382C>G	5.37:g.160721245G>C	ENSP00000377531:p.Ala461Gly					GABRB2_ENST00000520240.1_Missense_Mutation_p.A423G|GABRB2_ENST00000517901.1_Missense_Mutation_p.A360G|GABRB2_ENST00000517547.1_Missense_Mutation_p.A263G|GABRB2_ENST00000393959.1_Missense_Mutation_p.A461G|GABRB2_ENST00000353437.6_Missense_Mutation_p.A423G	p.A461G	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1599	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	461					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.1382C>G	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558094	0.45590	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.549133	0.21126	N	0.079738	T	0.77096	0.4080	N	0.21194	0.64	0.40721	D	0.982666	B;B;B;B	0.31193	0.089;0.0;0.312;0.001	B;B;B;B	0.37780	0.069;0.006;0.258;0.003	T	0.71297	-0.4635	10	0.09084	T	0.74	.	13.1672	0.59577	0.0728:0.0:0.9271:0.0	.	263;360;461;423	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	G	461;461;423;423;360;263	ENSP00000377531:A461G;ENSP00000274547:A461G;ENSP00000274546:A423G;ENSP00000429320:A423G;ENSP00000430532:A360G;ENSP00000429750:A263G	ENSP00000274547:A461G	A	-	2	0	GABRB2	160653823	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.590000	0.74085	2.715000	0.92844	0.650000	0.86243	GCG		0.517	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			6	51	0	0	0	1	0	6	51				
UTRN	7402	broad.mit.edu	37	6	145093085	145093085	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:145093085C>A	ENST00000367545.3	+	58	8538	c.8538C>A	c.(8536-8538)acC>acA	p.T2846T	UTRN_ENST00000367526.4_Silent_p.T401T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2846	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTAAAATGACCGAACTCTTTC	0.269																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8536-8538)acC>acA		utrophin							67.0	73.0	71.0					6																	145093085		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145093085C>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8538C>A	6.37:g.145093085C>A						UTRN_ENST00000367526.4_Silent_p.T401T	p.T2846T	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	58	8538	+		Ovarian(120;0.218)	2846			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8538C>A	CCDS34547.1																																																																																				0.269	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			13	67	1	0	5.01169e-05	1	5.57261e-05	13	67				
PEX5L	51555	broad.mit.edu	37	3	179605464	179605464	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:179605464C>A	ENST00000467460.1	-	4	637	c.307G>T	c.(307-309)Gct>Tct	p.A103S	PEX5L_ENST00000392649.3_Missense_Mutation_p.A60S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A68S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A101S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A44S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A60S|PEX5L_ENST00000465751.1_Missense_Mutation_p.A79S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A60S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	103					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GAATTACCAGCTGTATTGGAT	0.378																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(307-309)Gct>Tct		peroxisomal biogenesis factor 5-like							189.0	190.0	190.0					3																	179605464		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179605464C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.307G>T	3.37:g.179605464C>A	ENSP00000419975:p.Ala103Ser					PEX5L_ENST00000392649.3_Missense_Mutation_p.A60S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A101S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A68S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A60S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A44S|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A79S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A60S	p.A103S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		4	637	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		103					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.307G>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937432	0.73557	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000469198;ENST00000463761	D;D;D;D;D;D;D;D	0.92699	-3.08;-3.09;-2.96;-2.79;-3.01;-3.02;-2.79;-3.03	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	L	0.32530	0.975	0.46356	D	0.999	D;D;D;D;D;D	0.89917	0.999;0.999;0.993;1.0;1.0;0.999	D;D;D;D;D;D	0.85130	0.991;0.991;0.978;0.997;0.996;0.991	D	0.94246	0.7489	10	0.59425	D	0.04	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	44;79;60;101;68;103	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	S	103;101;68;101;60;60;56;44;60;79;92;127	ENSP00000419975:A103S;ENSP00000263962:A101S;ENSP00000418440:A68S;ENSP00000376420:A60S;ENSP00000420555:A60S;ENSP00000418054:A44S;ENSP00000417270:A60S;ENSP00000419348:A79S	ENSP00000263962:A101S	A	-	1	0	PEX5L	181088158	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.294000	0.78760	2.745000	0.94114	0.655000	0.94253	GCT		0.378	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		60	107	1	0	1.64573e-32	1	2.74991e-32	60	107				
DNAH11	8701	broad.mit.edu	37	7	21631181	21631181	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:21631181C>A	ENST00000409508.3	+	14	2684	c.2653C>A	c.(2653-2655)Cac>Aac	p.H885N	DNAH11_ENST00000328843.6_Missense_Mutation_p.H885N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	885	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGCAAGATCCACAACTTGGT	0.403									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2653-2655)Cac>Aac		dynein, axonemal, heavy chain 11							61.0	63.0	62.0					7																	21631181		1882	4101	5983	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21631181C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2653C>A	7.37:g.21631181C>A	ENSP00000475939:p.His885Asn					DNAH11_ENST00000409508.3_Missense_Mutation_p.H885N	p.H885N			Q96DT5	DYH11_HUMAN			14	2684	+			885			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2653C>A		.	.	.	.	.	.	.	.	.	.	C	15.98	2.992593	0.54041	.	.	ENSG00000105877	ENST00000328843	T	0.23147	1.92	5.69	5.69	0.88448	.	0.171370	0.49916	D	0.000132	T	0.29620	0.0739	.	.	.	0.58432	D	0.999993	P	0.46395	0.877	P	0.45829	0.494	T	0.01045	-1.1470	9	0.21014	T	0.42	.	18.5805	0.91168	0.0:1.0:0.0:0.0	.	885	Q96DT5	DYH11_HUMAN	N	885	ENSP00000330671:H885N	ENSP00000330671:H885N	H	+	1	0	DNAH11	21597706	1.000000	0.71417	0.988000	0.46212	0.387000	0.30353	5.048000	0.64238	2.676000	0.91093	0.561000	0.74099	CAC		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	59	1	0	6.31663e-08	1	7.79136e-08	14	59				
OR14K1	343170	broad.mit.edu	37	1	247902152	247902152	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247902152C>A	ENST00000283225.2	+	1	236	c.236C>A	c.(235-237)tCc>tAc	p.S79Y	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GTCCCCAAATCCATCCTCAAC	0.507																																						ENST00000283225.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(235-237)tCc>tAc		olfactory receptor, family 14, subfamily K, member 1							127.0	127.0	127.0					1																	247902152		2173	4280	6453	SO:0001583	missense	343170							g.chr1:247902152C>A	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.236C>A	1.37:g.247902152C>A	ENSP00000283225:p.Ser79Tyr					RP11-634B7.4_ENST00000449298.1_RNA	p.S79Y							1	236	+								A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.236C>A		.	.	.	.	.	.	.	.	.	.	C	16.87	3.243135	0.58995	.	.	ENSG00000153230	ENST00000283225	T	0.01804	4.63	3.74	1.77	0.24775	.	0.201744	0.23981	U	0.042667	T	0.02848	0.0085	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33369	-0.9871	7	0.87932	D	0	.	6.7149	0.23298	0.0:0.6769:0.0:0.3231	.	.	.	.	Y	79	ENSP00000283225:S79Y	ENSP00000283225:S79Y	S	+	2	0	OR14K1	245968775	0.000000	0.05858	0.276000	0.24689	0.958000	0.62258	0.322000	0.19576	0.739000	0.32628	0.609000	0.83330	TCC		0.507	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	NM_001004732		16	55	1	0	2.48551e-13	1	3.54407e-13	16	55				
OR2T4	127074	broad.mit.edu	37	1	248525185	248525185	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248525185G>T	ENST00000366475.1	+	1	303	c.303G>T	c.(301-303)atG>atT	p.M101I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	101						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(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTCTCTCATGGACATGGCGT	0.502																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(301-303)atG>atT		olfactory receptor, family 2, subfamily T, member 4							343.0	247.0	279.0					1																	248525185		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525185G>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.303G>T	1.37:g.248525185G>T	ENSP00000355431:p.Met101Ile						p.M101I	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	303	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		101					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.303G>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	8.078	0.771747	0.16051	.	.	ENSG00000196944	ENST00000366475	T	0.02837	4.14	3.48	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.01254	0.0041	N	0.05177	-0.1	0.19300	N	0.999978	B	0.16166	0.016	B	0.17979	0.02	T	0.45760	-0.9239	10	0.30078	T	0.28	.	0.5227	0.00614	0.2151:0.1553:0.3262:0.3034	.	101	Q8NH00	OR2T4_HUMAN	I	101	ENSP00000355431:M101I	ENSP00000355431:M101I	M	+	3	0	OR2T4	246591808	0.000000	0.05858	0.550000	0.28217	0.966000	0.64601	-2.887000	0.00711	0.427000	0.26145	0.485000	0.47835	ATG		0.502	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		28	162	1	0	9.39395e-14	1	1.36287e-13	28	162				
AGBL1	123624	broad.mit.edu	37	15	86940702	86940702	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:86940702T>C	ENST00000441037.2	+	17	2437	c.2342T>C	c.(2341-2343)gTg>gCg	p.V781A	AGBL1_ENST00000421325.2_Missense_Mutation_p.V781A|AGBL1_ENST00000389298.3_Missense_Mutation_p.V512A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	781					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGTGACCCTGTGGCTAGGCTC	0.522																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2341-2343)gTg>gCg		ATP/GTP binding protein-like 1							163.0	160.0	161.0					15																	86940702		2029	4172	6201	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86940702T>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2342T>C	15.37:g.86940702T>C	ENSP00000413001:p.Val781Ala					AGBL1_ENST00000421325.2_Missense_Mutation_p.V781A|AGBL1_ENST00000389298.3_Missense_Mutation_p.V512A	p.V781A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			17	2437	+			781					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2342T>C	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	7.271	0.607186	0.14002	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.09538	2.97;2.97	5.49	1.78	0.24846	Peptidase M14, carboxypeptidase A (1);	0.311219	0.26414	N	0.024512	T	0.06917	0.0176	L	0.41356	1.27	0.23936	N	0.996419	B	0.15141	0.012	B	0.14578	0.011	T	0.43972	-0.9358	10	0.09338	T	0.73	-7.7483	5.6007	0.17351	0.0:0.1432:0.2702:0.5866	.	781	Q96MI9	CBPC4_HUMAN	A	810;781;512	ENSP00000397173:V781A;ENSP00000373949:V512A	ENSP00000373949:V512A	V	+	2	0	AGBL1	84741706	1.000000	0.71417	0.903000	0.35520	0.848000	0.48234	2.783000	0.47766	0.095000	0.17434	0.533000	0.62120	GTG		0.522	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		18	85	0	0	0	1	0	18	85				
IL13RA1	3597	broad.mit.edu	37	X	117900505	117900505	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:117900505A>G	ENST00000371666.3	+	7	908	c.841A>G	c.(841-843)Aaa>Gaa	p.K281E	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	281	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						CCAAGAGGCTAAATGTGAGAA	0.343																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(841-843)Aaa>Gaa		interleukin 13 receptor, alpha 1							75.0	72.0	73.0					X																	117900505		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117900505A>G	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.841A>G	X.37:g.117900505A>G	ENSP00000360730:p.Lys281Glu					IL13RA1_ENST00000481868.1_3'UTR	p.K281E	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			7	908	+			281					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.841A>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	A	1.558	-0.537427	0.04082	.	.	ENSG00000131724	ENST00000371666	D	0.91295	-2.82	4.78	3.62	0.41486	Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.437790	0.01272	N	0.009463	D	0.87900	0.6294	L	0.45581	1.43	0.09310	N	0.999999	B;B	0.28783	0.222;0.222	B;B	0.26310	0.068;0.068	T	0.72077	-0.4399	10	0.44086	T	0.13	-3.351	6.0491	0.19775	0.8836:0.0:0.1164:0.0	.	281;281	Q5JSL4;P78552	.;I13R1_HUMAN	E	281	ENSP00000360730:K281E	ENSP00000360730:K281E	K	+	1	0	IL13RA1	117784533	0.976000	0.34144	0.006000	0.13384	0.025000	0.11179	2.529000	0.45632	0.671000	0.31185	0.412000	0.27726	AAA		0.343	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		19	51	0	0	0	1	0	19	51				
TNIK	23043	broad.mit.edu	37	3	170856013	170856013	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:170856013C>G	ENST00000436636.2	-	15	1919	c.1575G>C	c.(1573-1575)atG>atC	p.M525I	TNIK_ENST00000369326.5_Missense_Mutation_p.M496I|TNIK_ENST00000341852.6_Missense_Mutation_p.M496I|TNIK_ENST00000460047.1_Missense_Mutation_p.M525I|TNIK_ENST00000284483.8_Missense_Mutation_p.M525I|TNIK_ENST00000488470.1_Missense_Mutation_p.M525I|TNIK_ENST00000470834.1_Missense_Mutation_p.M496I|TNIK_ENST00000475336.1_Missense_Mutation_p.M496I|TNIK_ENST00000538048.1_Missense_Mutation_p.M525I|TNIK_ENST00000357327.5_Missense_Mutation_p.M496I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	525	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CACTAGGACTCATTCCTTCTT	0.488																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1573-1575)atG>atC		TRAF2 and NCK interacting kinase							101.0	105.0	104.0					3																	170856013		2027	4181	6208	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170856013C>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1575G>C	3.37:g.170856013C>G	ENSP00000399511:p.Met525Ile					TNIK_ENST00000284483.8_Missense_Mutation_p.M525I|TNIK_ENST00000357327.5_Missense_Mutation_p.M496I|TNIK_ENST00000369326.5_Missense_Mutation_p.M496I|TNIK_ENST00000488470.1_Missense_Mutation_p.M525I|TNIK_ENST00000475336.1_Missense_Mutation_p.M496I|TNIK_ENST00000470834.1_Missense_Mutation_p.M496I|TNIK_ENST00000341852.6_Missense_Mutation_p.M496I|TNIK_ENST00000538048.1_Missense_Mutation_p.M525I|TNIK_ENST00000460047.1_Missense_Mutation_p.M525I	p.M525I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		15	1919	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		525			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.1575G>C	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	6.150	0.395865	0.11638	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.23	5.23	0.72850	.	0.270144	0.43747	D	0.000528	T	0.22475	0.0542	N	0.14661	0.345	0.30629	N	0.757659	B;B;B;B;B;B;B;B	0.10296	0.0;0.003;0.0;0.0;0.002;0.002;0.0;0.001	B;B;B;B;B;B;B;B	0.14023	0.0;0.01;0.0;0.0;0.01;0.002;0.0;0.004	T	0.08371	-1.0725	10	0.27785	T	0.31	.	5.478	0.16706	0.0:0.6573:0.1789:0.1637	.	496;496;525;496;525;496;525;525	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	I	525;496;525;496;525;496;496;525;525;496	ENSP00000399511:M525I;ENSP00000358332:M496I;ENSP00000443278:M525I;ENSP00000345352:M496I;ENSP00000284483:M525I;ENSP00000418156:M496I;ENSP00000349880:M496I;ENSP00000418916:M525I;ENSP00000418378:M525I;ENSP00000419990:M496I	ENSP00000284483:M525I	M	-	3	0	TNIK	172338707	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.776000	0.26704	2.438000	0.82558	0.655000	0.94253	ATG		0.488	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		5	44	0	0	0	1	0	5	44				
OR10J1	26476	broad.mit.edu	37	1	159410329	159410329	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:159410329C>T	ENST00000423932.3	+	1	818	c.781C>T	c.(781-783)Cac>Tac	p.H261Y	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	261					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GGTCATTGTCCACTACAGCTG	0.502																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(781-783)Cac>Tac		olfactory receptor, family 10, subfamily J, member 1							175.0	147.0	156.0					1																	159410329		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410329C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.781C>T	1.37:g.159410329C>T	ENSP00000399078:p.His261Tyr					RP11-550P17.5_ENST00000431862.1_RNA	p.H261Y	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	818	+	all_hematologic(112;0.0429)		261					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.781C>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779436	0.31502	.	.	ENSG00000196184	ENST00000423932	T	0.00034	8.87	4.42	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000569	T	0.00073	0.0002	N	0.05383	-0.06	0.30929	N	0.727095	D	0.89917	1.0	D	0.81914	0.995	T	0.49399	-0.8944	10	0.33141	T	0.24	.	7.3054	0.26445	0.1675:0.7403:0.0:0.0922	.	261	P30954	O10J1_HUMAN	Y	261	ENSP00000399078:H261Y	ENSP00000399078:H261Y	H	+	1	0	OR10J1	157676953	0.001000	0.12720	0.426000	0.26672	0.282000	0.26991	1.091000	0.30915	0.557000	0.29117	0.650000	0.86243	CAC		0.502	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		20	88	0	0	0	1	0	20	88				
ZFP1	162239	broad.mit.edu	37	16	75203914	75203914	+	Silent	SNP	A	A	G	rs377630730		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:75203914A>G	ENST00000393430.2	+	4	1030	c.906A>G	c.(904-906)gcA>gcG	p.A302A	ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000570010.1_Silent_p.A302A|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.A269A			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	302					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)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						ACGAATGTGCAAAAACCTTCT	0.418																																					NSCLC(187;1429 2122 10143 20357 42217)	ENST00000393430.2																			0				endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						c.(904-906)gcA>gcG		ZFP1 zinc finger protein							75.0	77.0	76.0					16																	75203914		2198	4300	6498	SO:0001819	synonymous_variant	162239				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:75203914A>G	AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.906A>G	16.37:g.75203914A>G						ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.A269A|ZFP1_ENST00000570010.1_Silent_p.A302A|ZFP1_ENST00000568079.1_3'UTR	p.A302A			Q6P2D0	ZFP1_HUMAN			4	1030	+			302					A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Silent	SNP	ENST00000393430.2	37	c.906A>G	CCDS10914.2																																																																																				0.418	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269013.2	NM_153688		8	66	0	0	0	1	0	8	66				
SELP	6403	broad.mit.edu	37	1	169562916	169562916	+	Silent	SNP	C	C	A	rs140303776		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:169562916C>A	ENST00000263686.6	-	14	2371	c.2334G>T	c.(2332-2334)gcG>gcT	p.A778A	SELP_ENST00000367792.2_Silent_p.A594A|SELP_ENST00000367786.2_Silent_p.A716A|SELP_ENST00000367793.2_Silent_p.A716A|SELP_ENST00000458599.2_Silent_p.A594A|SELP_ENST00000367788.2_Silent_p.A716A|SELP_ENST00000367791.2_Silent_p.A592A|SELP_ENST00000367794.2_Silent_p.A716A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	778					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TAGAAGCCACCGCTCCACCAA	0.438																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2332-2334)gcG>gcT		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	C		0,4406		0,0,2203	73.0	70.0	71.0		2334	-5.2	0.8	1	dbSNP_134	71	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	SELP	NM_003005.3		0,5,6498	AA,AC,CC		0.0581,0.0,0.0384		778/831	169562916	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169562916C>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2334G>T	1.37:g.169562916C>A						SELP_ENST00000458599.2_Silent_p.A594A|SELP_ENST00000367794.2_Silent_p.A716A|SELP_ENST00000367786.2_Silent_p.A716A|SELP_ENST00000367792.2_Silent_p.A594A|SELP_ENST00000367793.2_Silent_p.A716A|SELP_ENST00000367791.2_Silent_p.A592A|SELP_ENST00000367788.2_Silent_p.A716A	p.A778A	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			14	2371	-	all_hematologic(923;0.208)		778					Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	c.2334G>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	2.878	-0.232385	0.05983	0.0	5.81E-4	ENSG00000174175	ENST00000446728	.	.	.	5.62	-5.19	0.02832	.	.	.	.	.	T	0.18215	0.0437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41592	-0.9500	4	.	.	.	-15.4433	0.4167	0.00449	0.3769:0.1599:0.2379:0.2253	.	.	.	.	C	594	.	.	G	-	1	0	SELP	167829540	0.070000	0.21116	0.802000	0.32245	0.153000	0.21895	-1.814000	0.01723	-0.864000	0.04078	-0.312000	0.09012	GGT		0.438	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		6	24	1	0	0.0215528	1	0.0220103	6	24				
TDRD1	56165	broad.mit.edu	37	10	115985873	115985873	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:115985873G>C	ENST00000369280.1	+	22	3533	c.3073G>C	c.(3073-3075)Gca>Cca	p.A1025P	TDRD1_ENST00000422662.1_Missense_Mutation_p.A629P|TDRD1_ENST00000369281.2_Missense_Mutation_p.A911P|TDRD1_ENST00000251864.2_Missense_Mutation_p.A1025P|TDRD1_ENST00000369282.1_Missense_Mutation_p.A1025P			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1025	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGTGCTCTATGCAGACTATGG	0.433																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(3073-3075)Gca>Cca		tudor domain containing 1							158.0	138.0	145.0					10																	115985873		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115985873G>C	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3073G>C	10.37:g.115985873G>C	ENSP00000358286:p.Ala1025Pro					TDRD1_ENST00000369281.2_Missense_Mutation_p.A911P|TDRD1_ENST00000369282.1_Missense_Mutation_p.A1025P|TDRD1_ENST00000369280.1_Missense_Mutation_p.A1025P|TDRD1_ENST00000422662.1_Missense_Mutation_p.A629P	p.A1025P	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	22	3226	+		Colorectal(252;0.172)|Breast(234;0.188)	1025			Tudor 4.		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.3073G>C		.	.	.	.	.	.	.	.	.	.	G	21.4	4.136380	0.77662	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	6.01	6.01	0.97437	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.111501	0.64402	D	0.000011	T	0.30696	0.0773	L	0.54323	1.7	0.46774	D	0.999197	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.73708	0.981;0.955;0.978;0.925;0.95	T	0.00067	-1.2142	10	0.59425	D	0.04	-7.0795	18.7017	0.91623	0.0:0.0:1.0:0.0	.	629;1025;911;1025;911	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	P	1025;1025;911;629;1025	ENSP00000358288:A1025P;ENSP00000251864:A1025P;ENSP00000358287:A911P;ENSP00000402794:A629P;ENSP00000358286:A1025P	ENSP00000251864:A1025P	A	+	1	0	TDRD1	115975863	1.000000	0.71417	0.989000	0.46669	0.388000	0.30384	7.749000	0.85096	2.861000	0.98227	0.650000	0.86243	GCA		0.433	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			11	56	0	0	0	1	0	11	56				
TYRP1	7306	broad.mit.edu	37	9	12694237	12694237	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:12694237C>A	ENST00000388918.5	+	2	370	c.241C>A	c.(241-243)Cat>Aat	p.H81N	TYRP1_ENST00000381136.2_5'Flank|TYRP1_ENST00000381137.2_De_novo_Start_OutOfFrame	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	81					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TCAGTATCCCCATGATGGCAG	0.592									Oculocutaneous Albinism																													ENST00000381137.2																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22								tyrosinase-related protein 1							44.0	39.0	40.0					9																	12694237		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12694237C>A	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.241C>A	9.37:g.12694237C>A	ENSP00000373570:p.His81Asn					TYRP1_ENST00000388918.5_Missense_Mutation_p.H81N				P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	0	419	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)						P78468|P78469|Q13721|Q15679	Translation_Start_Site	SNP	ENST00000388918.5	37		CCDS34990.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744443	0.69418	.	.	ENSG00000107165	ENST00000473763;ENST00000388918	T;D	0.83837	2.4;-1.77	5.5	5.5	0.81552	.	0.093332	0.64402	D	0.000001	D	0.88727	0.6515	M	0.79926	2.475	0.80722	D	1	P	0.48294	0.908	P	0.51974	0.686	D	0.86216	0.1628	10	0.25751	T	0.34	-16.1722	19.7727	0.96373	0.0:1.0:0.0:0.0	.	81	P17643	TYRP1_HUMAN	N	81	ENSP00000419006:H81N;ENSP00000373570:H81N	ENSP00000373570:H81N	H	+	1	0	TYRP1	12684237	1.000000	0.71417	0.263000	0.24496	0.262000	0.26303	5.659000	0.68010	2.758000	0.94735	0.563000	0.77884	CAT		0.592	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550		10	15	1	0	0.000442599	1	0.000478175	10	15				
KCNH7	90134	broad.mit.edu	37	2	163236421	163236421	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:163236421C>G	ENST00000332142.5	-	14	3172	c.3073G>C	c.(3073-3075)Gac>Cac	p.D1025H		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1025					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.D1025H(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TAGGTGAGGTCGCTTTCGGTT	0.517																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			1	Substitution - Missense(1)	p.D1025H(1)	urinary_tract(1)	NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(3073-3075)Gac>Cac		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						191.0	179.0	183.0					2																	163236421		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163236421C>G	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3073G>C	2.37:g.163236421C>G	ENSP00000331727:p.Asp1025His						p.D1025H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			14	3172	-			1025					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.3073G>C	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732359	0.89482	.	.	ENSG00000184611	ENST00000332142	D	0.88201	-2.35	5.97	5.97	0.96955	.	0.044534	0.85682	D	0.000000	D	0.89511	0.6736	N	0.24115	0.695	0.80722	D	1	D	0.59767	0.986	P	0.57283	0.817	D	0.88900	0.3352	10	0.42905	T	0.14	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	1025	Q9NS40	KCNH7_HUMAN	H	1025	ENSP00000331727:D1025H	ENSP00000331727:D1025H	D	-	1	0	KCNH7	162944667	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.525000	0.73795	2.835000	0.97688	0.591000	0.81541	GAC		0.517	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		32	109	0	0	0	1	0	32	109				
LRRC10	376132	broad.mit.edu	37	12	70004253	70004253	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70004253G>T	ENST00000361484.3	-	1	689	c.366C>A	c.(364-366)aaC>aaA	p.N122K		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	122					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGGTCCTGAGGTTCTGGAGCA	0.602																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(364-366)aaC>aaA		leucine rich repeat containing 10							79.0	79.0	79.0					12																	70004253		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70004253G>T	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.366C>A	12.37:g.70004253G>T	ENSP00000355166:p.Asn122Lys						p.N122K	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	689	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		122					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.366C>A	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	G	3.052	-0.195184	0.06259	.	.	ENSG00000198812	ENST00000361484	T	0.26518	1.73	5.62	-0.633	0.11519	.	0.172230	0.64402	N	0.000006	T	0.15912	0.0383	L	0.37507	1.11	0.32404	N	0.551593	B	0.06786	0.001	B	0.09377	0.004	T	0.15521	-1.0434	10	0.27082	T	0.32	.	7.9518	0.30019	0.1724:0.0:0.7325:0.095	.	122	Q5BKY1	LRC10_HUMAN	K	122	ENSP00000355166:N122K	ENSP00000355166:N122K	N	-	3	2	LRRC10	68290520	0.315000	0.24571	0.979000	0.43373	0.968000	0.65278	-0.383000	0.07398	-0.322000	0.08615	0.555000	0.69702	AAC		0.602	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		16	54	1	0	5.01169e-05	1	5.57261e-05	16	54				
CDKL5	6792	broad.mit.edu	37	X	18622162	18622162	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:18622162G>T	ENST00000379989.3	+	13	1403	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	CDKL5_ENST00000379996.3_Missense_Mutation_p.G373V|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	373					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AACCTTGCTGGAGCTAGTCTT	0.512																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(1117-1119)gGa>gTa		cyclin-dependent kinase-like 5							159.0	153.0	155.0					X																	18622162		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18622162G>T	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1118G>T	X.37:g.18622162G>T	ENSP00000369325:p.Gly373Val					CDKL5_ENST00000379996.3_Missense_Mutation_p.G373V|CDKL5_ENST00000463994.1_3'UTR	p.G373V	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			13	1403	+	Hepatocellular(33;0.183)		373					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.1118G>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353936	0.24512	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.69561	-0.41;-0.41	6.06	4.19	0.49359	.	0.259165	0.44483	D	0.000455	T	0.50599	0.1625	N	0.19112	0.55	0.47621	D	0.999478	B	0.17852	0.024	B	0.12837	0.008	T	0.49163	-0.8968	10	0.56958	D	0.05	-15.0203	11.1748	0.48593	0.0:0.3713:0.4988:0.1299	.	373	O76039	CDKL5_HUMAN	V	373	ENSP00000369332:G373V;ENSP00000369325:G373V	ENSP00000369325:G373V	G	+	2	0	CDKL5	18532083	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	1.536000	0.36072	1.259000	0.44117	0.600000	0.82982	GGA		0.512	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		57	111	1	0	2.23044e-30	1	3.70658e-30	57	111				
ADAMTS12	81792	broad.mit.edu	37	5	33881451	33881451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:33881451C>A	ENST00000504830.1	-	2	597	c.262G>T	c.(262-264)Gag>Tag	p.E88*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E88*|ADAMTS12_ENST00000515401.1_Nonsense_Mutation_p.E88*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	88					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCCAGTCCTCTGAGCCATCC	0.468										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(262-264)Gag>Tag		ADAM metallopeptidase with thrombospondin type 1 motif, 12							144.0	141.0	142.0					5																	33881451		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33881451C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.262G>T	5.37:g.33881451C>A	ENSP00000422554:p.Glu88*	HNSCC(64;0.19)				ADAMTS12_ENST00000515401.1_Nonsense_Mutation_p.E88*|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E88*	p.E88*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			2	597	-			88					A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.262G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059057	0.93846	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	.	.	.	5.51	4.63	0.57726	.	0.436148	0.23317	N	0.049496	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	9.6938	0.40145	0.0:0.7841:0.1423:0.0736	.	.	.	.	X	88	.	ENSP00000344847:E88X	E	-	1	0	ADAMTS12	33917208	0.938000	0.31826	0.013000	0.15412	0.947000	0.59692	2.805000	0.47939	1.280000	0.44463	0.467000	0.42956	GAG		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		87	144	1	0	8.45e-40	1	1.41972e-39	87	144				
OR4N4	283694	broad.mit.edu	37	15	22382703	22382703	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:22382703G>T	ENST00000328795.4	+	1	322	c.231G>T	c.(229-231)gtG>gtT	p.V77V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTTCATTGTGGCTCCCAGGA	0.498																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(229-231)gtG>gtT		olfactory receptor, family 4, subfamily N, member 4							152.0	144.0	147.0					15																	22382703		2203	4300	6503	SO:0001819	synonymous_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382703G>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.231G>T	15.37:g.22382703G>T						RP11-69H14.6_ENST00000558896.1_RNA	p.V77V	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	322	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	77					Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	c.231G>T	CCDS32173.1																																																																																				0.498	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			29	149	1	0	2.75727e-19	1	4.38286e-19	29	149				
ZNF420	147923	broad.mit.edu	37	19	37619640	37619640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:37619640G>T	ENST00000337995.3	+	5	1962	c.1747G>T	c.(1747-1749)Gga>Tga	p.G583*	ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCACACTGGAGAAAAACC	0.433																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(1747-1749)Gga>Tga		zinc finger protein 420							92.0	83.0	86.0					19																	37619640		2203	4300	6503	SO:0001587	stop_gained	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619640G>T	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1747G>T	19.37:g.37619640G>T	ENSP00000338770:p.Gly583*					CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_3'UTR	p.G583*	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1962	+			583					B2RDY6|Q96ML5	Nonsense_Mutation	SNP	ENST00000337995.3	37	c.1747G>T	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	G	38	6.757506	0.97817	.	.	ENSG00000197050	ENST00000337995	.	.	.	4.49	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3331	0.49487	0.0915:0.0:0.9085:0.0	.	.	.	.	X	583	.	.	G	+	1	0	ZNF420	42311480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.374000	0.52402	1.101000	0.41535	0.655000	0.94253	GGA		0.433	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		14	46	1	0	9.31168e-06	1	1.05988e-05	14	46				
CYP2C19	1557	broad.mit.edu	37	10	96612543	96612543	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:96612543C>T	ENST00000371321.3	+	9	1427	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	449					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GTTTTTATTCCTGACCTTCAT	0.443																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(1345-1347)Ctg>Ttg		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						145.0	136.0	139.0					10																	96612543		2203	4300	6503	SO:0001819	synonymous_variant	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96612543C>T	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.1345C>T	10.37:g.96612543C>T						CYP2C19_ENST00000464755.1_3'UTR	p.L449L	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	9	1427	+		Colorectal(252;0.09)	449					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Silent	SNP	ENST00000371321.3	37	c.1345C>T	CCDS7436.1																																																																																				0.443	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		20	71	0	0	0	1	0	20	71				
PAPPA2	60676	broad.mit.edu	37	1	176668723	176668723	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:176668723C>A	ENST00000367662.3	+	8	4398	c.3234C>A	c.(3232-3234)gaC>gaA	p.D1078E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1078					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGTTCACGGACGTGTGAGTTT	0.542																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(3232-3234)gaC>gaA		pappalysin 2							133.0	129.0	130.0					1																	176668723		1956	4151	6107	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668723C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3234C>A	1.37:g.176668723C>A	ENSP00000356634:p.Asp1078Glu						p.D1078E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			8	4398	+			1078					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3234C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026333	0.54683	.	.	ENSG00000116183	ENST00000367662	T	0.55052	0.54	5.23	2.34	0.29019	Fibronectin, type III (2);	0.043510	0.85682	D	0.000000	T	0.67277	0.2876	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.67059	-0.5766	10	0.87932	D	0	-30.8615	9.7647	0.40554	0.0:0.7714:0.0:0.2286	.	1078	Q9BXP8	PAPP2_HUMAN	E	1078	ENSP00000356634:D1078E	ENSP00000356634:D1078E	D	+	3	2	PAPPA2	174935346	0.656000	0.27385	0.121000	0.21740	0.258000	0.26162	1.214000	0.32419	0.351000	0.24027	0.655000	0.94253	GAC		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			32	137	1	0	2.26627e-22	1	3.68572e-22	32	137				
SLITRK4	139065	broad.mit.edu	37	X	142717002	142717002	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142717002A>C	ENST00000381779.4	-	2	2148	c.1923T>G	c.(1921-1923)ttT>ttG	p.F641L	SLITRK4_ENST00000338017.4_Missense_Mutation_p.F641L|SLITRK4_ENST00000356928.1_Missense_Mutation_p.F641L	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	641						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTCGCAGGACAAAAACAAGAA	0.478																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1921-1923)ttT>ttG		SLIT and NTRK-like family, member 4							92.0	92.0	92.0					X																	142717002		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717002A>C	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1923T>G	X.37:g.142717002A>C	ENSP00000371198:p.Phe641Leu					SLITRK4_ENST00000338017.4_Missense_Mutation_p.F641L|SLITRK4_ENST00000356928.1_Missense_Mutation_p.F641L	p.F641L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2148	-	Acute lymphoblastic leukemia(192;6.56e-05)		641					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1923T>G	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481016	0.44044	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52983	0.64;0.64;0.64	5.36	0.266	0.15617	.	0.000000	0.85682	U	0.000000	T	0.35219	0.0924	L	0.50333	1.59	0.58432	D	0.999999	B	0.28378	0.209	B	0.27887	0.084	T	0.07309	-1.0779	10	0.21540	T	0.41	-10.9409	8.4542	0.32888	0.6684:0.0:0.3316:0.0	.	641	Q8IW52	SLIK4_HUMAN	L	641	ENSP00000371198:F641L;ENSP00000349400:F641L;ENSP00000336627:F641L	ENSP00000336627:F641L	F	-	3	2	SLITRK4	142544668	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	3.295000	0.51794	-0.061000	0.13110	0.417000	0.27973	TTT		0.478	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		31	114	0	0	0	1	0	31	114				
HAPLN1	1404	broad.mit.edu	37	5	82948337	82948337	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:82948337C>A	ENST00000274341.4	-	3	1257	c.407G>T	c.(406-408)aGa>aTa	p.R136I	HAPLN1_ENST00000514416.1_Missense_Mutation_p.R136I	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	136	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ACACTTATATCTCCCATAATC	0.418																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(406-408)aGa>aTa		hyaluronan and proteoglycan link protein 1							147.0	147.0	147.0					5																	82948337		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948337C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.407G>T	5.37:g.82948337C>A	ENSP00000274341:p.Arg136Ile					HAPLN1_ENST00000514416.1_Missense_Mutation_p.R136I	p.R136I	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	3	1257	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	136			Ig-like V-type.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.407G>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981898	0.74474	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03	6.16	2.5	0.30297	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.352176	0.39909	N	0.001238	T	0.66548	0.2800	L	0.50847	1.595	0.58432	D	0.999996	P	0.37955	0.612	P	0.55667	0.781	T	0.56902	-0.7902	10	0.14252	T	0.57	.	10.2505	0.43367	0.0:0.6848:0.0:0.3152	.	136	P10915	HPLN1_HUMAN	I	136;136;136;135;136;136;136	ENSP00000274341:R136I;ENSP00000422592:R136I;ENSP00000421341:R136I;ENSP00000426610:R135I;ENSP00000422522:R136I;ENSP00000421726:R136I;ENSP00000423836:R136I	ENSP00000274341:R136I	R	-	2	0	HAPLN1	82984093	0.299000	0.24426	0.999000	0.59377	0.989000	0.77384	0.038000	0.13862	0.191000	0.20236	0.650000	0.86243	AGA		0.418	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		12	81	1	0	0.0135373	1	0.0139651	12	81				
CADM3	57863	broad.mit.edu	37	1	159163221	159163221	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:159163221C>G	ENST00000368125.4	+	4	548	c.391C>G	c.(391-393)Cag>Gag	p.Q131E	CADM3_ENST00000368124.4_Missense_Mutation_p.Q165E|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	131	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGAATTCCACAGAAGCCCAT	0.542																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(391-393)Cag>Gag		cell adhesion molecule 3							92.0	97.0	95.0					1																	159163221		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159163221C>G	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.391C>G	1.37:g.159163221C>G	ENSP00000357107:p.Gln131Glu					CADM3_ENST00000368124.4_Missense_Mutation_p.Q165E	p.Q131E	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			4	548	+	all_hematologic(112;0.0429)		131			Ig-like C2-type 1.		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.391C>G	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	3.682	-0.065279	0.07273	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	D;D;T	0.85702	-2.02;-2.02;2.63	5.13	5.13	0.70059	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.218239	0.40818	N	0.001001	T	0.51787	0.1695	N	0.11756	0.17	0.42692	D	0.993589	B;B;P	0.41947	0.001;0.003;0.766	B;B;B	0.32533	0.001;0.002;0.147	T	0.68595	-0.5367	10	0.02654	T	1	.	16.1237	0.81377	0.0:1.0:0.0:0.0	.	131;131;165	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	E	165;131;131	ENSP00000357106:Q165E;ENSP00000357107:Q131E;ENSP00000387802:Q131E	ENSP00000357106:Q165E	Q	+	1	0	CADM3	157429845	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.701000	0.54793	2.655000	0.90218	0.655000	0.94253	CAG		0.542	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		13	81	0	0	0	1	0	13	81				
GABRB3	2562	broad.mit.edu	37	15	26825522	26825522	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:26825522G>A	ENST00000311550.5	-	6	737	c.626C>T	c.(625-627)cCg>cTg	p.P209L	GABRB3_ENST00000400188.3_Missense_Mutation_p.P138L|GABRB3_ENST00000541819.2_Missense_Mutation_p.P265L|GABRB3_ENST00000299267.4_Missense_Mutation_p.P209L|GABRB3_ENST00000545868.1_Missense_Mutation_p.P124L	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	209					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGAGAACTGCGGGAGCTCAAT	0.562																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(793-795)cCg>cTg		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						132.0	116.0	122.0					15																	26825522		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825522G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.626C>T	15.37:g.26825522G>A	ENSP00000308725:p.Pro209Leu					GABRB3_ENST00000299267.4_Missense_Mutation_p.P209L|GABRB3_ENST00000545868.1_Missense_Mutation_p.P124L|GABRB3_ENST00000311550.5_Missense_Mutation_p.P209L|GABRB3_ENST00000400188.3_Missense_Mutation_p.P138L	p.P265L			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	896	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	209					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.794C>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413873	0.96072	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.12	5.12	0.69794	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89928	0.6857	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77004	0.989;0.967;0.988	D	0.90031	0.4135	10	0.48119	T	0.1	.	17.8936	0.88879	0.0:0.0:1.0:0.0	.	265;209;209	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	L	209;265;209;138;124;124	ENSP00000308725:P209L;ENSP00000442408:P265L;ENSP00000299267:P209L;ENSP00000383049:P138L;ENSP00000439169:P124L;ENSP00000452272:P124L	ENSP00000299267:P209L	P	-	2	0	GABRB3	24376615	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	9.669000	0.98622	2.541000	0.85698	0.561000	0.74099	CCG		0.562	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			28	73	0	0	0	1	0	28	73				
PLXNC1	10154	broad.mit.edu	37	12	94618070	94618070	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:94618070C>A	ENST00000258526.4	+	7	2018	c.1769C>A	c.(1768-1770)aCc>aAc	p.T590N		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	590					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAACTTTACCAACTGCTCA	0.353																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1768-1770)aCc>aAc		plexin C1							166.0	150.0	155.0					12																	94618070		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94618070C>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1769C>A	12.37:g.94618070C>A	ENSP00000258526:p.Thr590Asn						p.T590N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			7	2018	+			590					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1769C>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891138	0.33348	.	.	ENSG00000136040	ENST00000258526	T	0.07216	3.21	6.02	6.02	0.97574	.	0.283940	0.34531	N	0.003891	T	0.18467	0.0443	M	0.66939	2.045	0.80722	D	1	P	0.52316	0.952	P	0.49140	0.601	T	0.00027	-1.2305	10	0.59425	D	0.04	.	16.0408	0.80680	0.0:1.0:0.0:0.0	.	590	O60486	PLXC1_HUMAN	N	590	ENSP00000258526:T590N	ENSP00000258526:T590N	T	+	2	0	PLXNC1	93142201	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	3.549000	0.53681	2.865000	0.98341	0.655000	0.94253	ACC		0.353	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			16	81	1	0	5.3912e-06	1	6.1904e-06	16	81				
ACSM1	116285	broad.mit.edu	37	16	20636822	20636822	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:20636822C>T	ENST00000307493.4	-	11	1517	c.1450G>A	c.(1450-1452)Gtt>Att	p.V484I	ACSM1_ENST00000219151.4_Missense_Mutation_p.V135I|ACSM1_ENST00000520010.1_Missense_Mutation_p.V484I	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	484					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GCGCTTTCAACCTCTGCAGGC	0.607																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(403-405)Gtt>Att		acyl-CoA synthetase medium-chain family member 1							60.0	53.0	55.0					16																	20636822		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20636822C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1450G>A	16.37:g.20636822C>T	ENSP00000301956:p.Val484Ile					ACSM1_ENST00000307493.4_Missense_Mutation_p.V484I|ACSM1_ENST00000520010.1_Missense_Mutation_p.V484I	p.V135I			Q08AH1	ACSM1_HUMAN			12	1613	-			484					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.403G>A	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	c	16.43	3.120179	0.56613	.	.	ENSG00000166743	ENST00000307493;ENST00000219151;ENST00000520010	T;T;T	0.41758	0.99;0.99;0.99	4.47	4.47	0.54385	AMP-dependent synthetase/ligase (1);	0.164334	0.28247	N	0.016050	T	0.51466	0.1676	L	0.28274	0.84	0.38822	D	0.955651	D	0.57571	0.98	D	0.71184	0.972	T	0.57613	-0.7781	10	0.59425	D	0.04	.	16.4125	0.83723	0.0:1.0:0.0:0.0	.	484	Q08AH1	ACSM1_HUMAN	I	484;135;484	ENSP00000301956:V484I;ENSP00000219151:V135I;ENSP00000428047:V484I	ENSP00000219151:V135I	V	-	1	0	ACSM1	20544323	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	5.587000	0.67510	2.469000	0.83416	0.655000	0.94253	GTT		0.607	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		8	29	0	0	0	1	0	8	29				
RTN1	6252	broad.mit.edu	37	14	60212950	60212950	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:60212950G>T	ENST00000267484.5	-	2	826	c.491C>A	c.(490-492)tCt>tAt	p.S164Y		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	164					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCCAGAATCAGAACTAAATAA	0.502																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(490-492)tCt>tAt		reticulon 1							76.0	77.0	77.0					14																	60212950		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212950G>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.491C>A	14.37:g.60212950G>T	ENSP00000267484:p.Ser164Tyr						p.S164Y	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	826	-			164					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.491C>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453829	0.63290	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.35789	1.29	5.48	5.48	0.80851	.	0.180912	0.49916	D	0.000122	T	0.58032	0.2094	M	0.74258	2.255	0.46798	D	0.999203	D	0.71674	0.998	D	0.64042	0.921	T	0.61618	-0.7026	10	0.72032	D	0.01	.	14.6044	0.68466	0.0725:0.0:0.9275:0.0	.	164	Q16799	RTN1_HUMAN	Y	164;90	ENSP00000267484:S164Y	ENSP00000267484:S164Y	S	-	2	0	RTN1	59282703	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.460000	0.60108	2.573000	0.86826	0.557000	0.71058	TCT		0.502	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			38	54	1	0	1.60099e-16	1	2.4552e-16	38	54				
TBC1D3	729873	broad.mit.edu	37	17	36358907	36358907	+	5'Flank	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:36358907C>G	ENST00000537432.1	-	0	0				RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.D107H|RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.D262H			Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3							plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACACACCATCTTTTGACCTT	0.408																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(784-786)Gat>Cat																																						SO:0001631	upstream_gene_variant	101929950							g.chr17:36358907C>G		CCDS45658.1	17q12	2014-09-16			ENSG00000274611	ENSG00000274419			19031	protein-coding gene	gene with protein product	"""prostate cancer gene 17"""	607741				12604796, 12359748, 16863688	Standard	NM_001123391		Approved	TBC1D3A, DKFZp434P2235, PRC17	uc002hoo.2	Q8IZP1	OTTHUMG00000188487		17.37:g.36358907C>G	Exception_encountered					RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.D107H	p.D262H							6	783	-								A6NGX2|A8K007|Q6DCB4|Q9H0B9|Q9UDD4	Missense_Mutation	SNP	ENST00000537432.1	37	c.784G>C	CCDS45658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.050325|3.050325	0.55218|0.55218	.|.	.|.	ENSG00000174093|ENSG00000174093	ENST00000544906;ENST00000520237;ENST00000312412;ENST00000518004|ENST00000523089	T;T;T;T|.	0.02974|.	4.09;4.09;4.09;4.09|.	2.51|2.51	2.51|2.51	0.30379|0.30379	.|.	.|.	.|.	.|.	.|.	T|T	0.60222|0.60222	0.2252|0.2252	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68977|0.68977	-0.5267|-0.5267	5|3	0.42905|.	T|.	0.14|.	.|.	13.0172|13.0172	0.58764|0.58764	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	H|T	107;262;262;258|217	ENSP00000444117:D107H;ENSP00000428261:D262H;ENSP00000308540:D262H;ENSP00000428330:D258H|.	ENSP00000308540:D262H|.	D|R	-|-	1|2	0|0	RP11-1407O15.2|RP11-1407O15.2	33612698|33612698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	7.593000|7.593000	0.82686|0.82686	1.394000|1.394000	0.46624|0.46624	0.194000|0.194000	0.17425|0.17425	GAT|AGA		0.408	TBC1D3-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001123391		29	277	0	0	0	1	0	29	277				
ATP1A3	478	broad.mit.edu	37	19	42492683	42492683	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:42492683T>G	ENST00000302102.5	-	2	188	c.38A>C	c.(37-39)aAg>aCg	p.K13T	ATP1A3_ENST00000543770.1_Missense_Mutation_p.K24T|ATP1A3_ENST00000602133.1_5'UTR|ATP1A3_ENST00000545399.1_Missense_Mutation_p.K26T|ATP1A3_ENST00000468774.2_5'UTR	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	13					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCCTTGTTCTTCTTGGGTGA	0.602																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(76-78)aAg>aCg		ATPase, Na+/K+ transporting, alpha 3 polypeptide							272.0	211.0	232.0					19																	42492683		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42492683T>G		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.38A>C	19.37:g.42492683T>G	ENSP00000302397:p.Lys13Thr					ATP1A3_ENST00000543770.1_Missense_Mutation_p.K24T|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K13T|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000602133.1_5'UTR	p.K26T	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			2	230	-			13					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.77A>C	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616617	0.66672	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000543770;ENST00000448429	D;D;D;D	0.95447	-3.54;-3.71;-3.54;-3.52	4.61	4.61	0.57282	.	0.219701	0.39020	N	0.001498	D	0.93772	0.8009	N	0.08118	0	0.80722	D	1	B;D;D;D	0.71674	0.001;0.989;0.998;0.981	B;D;D;D	0.76071	0.002;0.969;0.987;0.932	D	0.94059	0.7325	10	0.46703	T	0.11	.	12.3183	0.54971	0.0:0.0:0.0:1.0	.	26;24;13;13	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	T	13;13;26;24;26	ENSP00000302397:K13T;ENSP00000411503:K13T;ENSP00000444688:K26T;ENSP00000437577:K24T	ENSP00000302397:K13T	K	-	2	0	ATP1A3	47184523	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.513000	0.67037	1.883000	0.54544	0.392000	0.25879	AAG		0.602	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		67	179	0	0	0	1	0	67	179				
ARID2	196528	broad.mit.edu	37	12	46244778	46244778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:46244778C>T	ENST00000334344.6	+	15	3044	c.2872C>T	c.(2872-2874)Cag>Tag	p.Q958*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q568*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q809*|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	958	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T959fs*9(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCAGCTGGTCAGACAGTTCA	0.473			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		1	Insertion - Frameshift(1)	p.T959fs*9(1)	skin(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(2872-2874)Cag>Tag		AT rich interactive domain 2 (ARID, RFX-like)							220.0	199.0	206.0					12																	46244778		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244778C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2872C>T	12.37:g.46244778C>T	ENSP00000335044:p.Gln958*					ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q568*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q809*	p.Q958*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3044	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	958			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.2872C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	40	8.058365	0.98632	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.68	5.68	0.88126	.	0.106625	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.3397	19.7891	0.96450	0.0:1.0:0.0:0.0	.	.	.	.	X	958;809;568	.	ENSP00000335044:Q958X	Q	+	1	0	ARID2	44531045	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.044000	0.76578	2.692000	0.91855	0.561000	0.74099	CAG		0.473	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		25	103	0	0	0	1	0	25	103				
TCF20	6942	broad.mit.edu	37	22	42607169	42607169	+	Silent	SNP	C	C	A	rs370978557		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:42607169C>A	ENST00000359486.3	-	1	4279	c.4143G>T	c.(4141-4143)acG>acT	p.T1381T	TCF20_ENST00000335626.4_Silent_p.T1381T|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TATCATCAAGCGTAACCGTGT	0.488																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(4141-4143)acG>acT		transcription factor 20 (AR1)							115.0	109.0	111.0					22																	42607169		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607169C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4143G>T	22.37:g.42607169C>A						TCF20_ENST00000335626.4_Silent_p.T1381T	p.T1381T	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	4279	-			1381					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.4143G>T	CCDS14033.1																																																																																				0.488	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	100	1	0	1	1	1	4	100				
KLHDC1	122773	broad.mit.edu	37	14	50159966	50159966	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:50159966C>G	ENST00000359332.2	+	1	144	c.54C>G	c.(52-54)gcC>gcG	p.A18A		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	18						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GCCACTGCGCCGTGGTGGACG	0.706																																						ENST00000359332.2																			0				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(52-54)gcC>gcG		kelch domain containing 1							32.0	26.0	28.0					14																	50159966		2199	4294	6493	SO:0001819	synonymous_variant	122773					cytoplasm		g.chr14:50159966C>G	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.54C>G	14.37:g.50159966C>G							p.A18A	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN			1	144	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		18					B3KXD9|Q8WYI1	Silent	SNP	ENST00000359332.2	37	c.54C>G	CCDS9692.1																																																																																				0.706	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		8	46	0	0	0	1	0	8	46				
A1CF	29974	broad.mit.edu	37	10	52603857	52603857	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:52603857C>A	ENST00000373993.1	-	2	169	c.125G>T	c.(124-126)gGc>gTc	p.G42V	A1CF_ENST00000373995.3_Missense_Mutation_p.G50V|A1CF_ENST00000395489.2_Missense_Mutation_p.G35V|A1CF_ENST00000373997.3_Missense_Mutation_p.G42V|A1CF_ENST00000282641.2_Missense_Mutation_p.G42V|A1CF_ENST00000395495.1_Missense_Mutation_p.G42V|A1CF_ENST00000374001.2_Missense_Mutation_p.G42V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	42					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AGGTGGAGGGCCACCATATTT	0.433																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(103-105)gGc>gTc		APOBEC1 complementation factor							59.0	66.0	64.0					10																	52603857		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52603857C>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.125G>T	10.37:g.52603857C>A	ENSP00000363105:p.Gly42Val					A1CF_ENST00000373995.3_Missense_Mutation_p.G50V|A1CF_ENST00000395495.1_Missense_Mutation_p.G42V|A1CF_ENST00000373993.1_Missense_Mutation_p.G42V|A1CF_ENST00000282641.2_Missense_Mutation_p.G42V|A1CF_ENST00000374001.1_Missense_Mutation_p.G42V|A1CF_ENST00000373997.3_Missense_Mutation_p.G42V	p.G35V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			6	500	-			42					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.104G>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602764	0.87157	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;2.48;0.96;2.47;2.49;1.84	5.33	5.33	0.75918	.	0.146545	0.64402	D	0.000007	T	0.69762	0.3147	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	0.999;0.996;1.0;1.0	D;D;D;D	0.83275	0.986;0.94;0.993;0.996	T	0.75739	-0.3212	10	0.87932	D	0	.	16.5129	0.84290	0.0:1.0:0.0:0.0	.	35;42;42;50	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	V	42;42;42;50;42;42;25;35;42	ENSP00000363113:G42V;ENSP00000363105:G42V;ENSP00000363109:G42V;ENSP00000363107:G50V;ENSP00000282641:G42V;ENSP00000378873:G42V;ENSP00000378868:G35V;ENSP00000397953:G42V	ENSP00000282641:G42V	G	-	2	0	A1CF	52273863	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.294000	0.78760	2.496000	0.84212	0.650000	0.86243	GGC		0.433	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		14	61	1	0	1.05317e-09	1	1.36152e-09	14	61				
UQCRFS1	7386	broad.mit.edu	37	19	29698651	29698651	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:29698651C>A	ENST00000304863.4	-	2	1051	c.629G>T	c.(628-630)tGg>tTg	p.W210L		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	210	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			CAGGATAACCCATTCAGGTTT	0.453																																						ENST00000304863.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(628-630)tGg>tTg		ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1							85.0	91.0	89.0					19																	29698651		2203	4299	6502	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698651C>A	BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.629G>T	19.37:g.29698651C>A	ENSP00000306397:p.Trp210Leu						p.W210L	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	Lung(7;0.092)		2	1051	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		210			Rieske.		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.629G>T	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021461	0.35701	.	.	ENSG00000169021	ENST00000304863	T	0.47528	0.84	5.42	3.28	0.37604	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (4);	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.63910	-0.6530	10	0.87932	D	0	.	10.0482	0.42199	0.0:0.7864:0.1385:0.075	.	210	P47985	UCRI_HUMAN	L	210	ENSP00000306397:W210L	ENSP00000306397:W210L	W	-	2	0	UQCRFS1	34390491	1.000000	0.71417	0.080000	0.20451	0.012000	0.07955	4.622000	0.61240	0.645000	0.30675	0.462000	0.41574	TGG		0.453	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		28	77	1	0	2.44723e-14	1	3.59032e-14	28	77				
OVGP1	5016	broad.mit.edu	37	1	111969254	111969254	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:111969254T>C	ENST00000369732.3	-	3	120	c.65A>G	c.(64-66)cAt>cGt	p.H22R	OVGP1_ENST00000540696.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	22					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACGAGTTTATGGGCAGCACC	0.547																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(64-66)cAt>cGt		oviductal glycoprotein 1, 120kDa							58.0	54.0	56.0					1																	111969254		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111969254T>C	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.65A>G	1.37:g.111969254T>C	ENSP00000358747:p.His22Arg					OVGP1_ENST00000540696.1_5'UTR	p.H22R	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	3	120	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	22					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.65A>G	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.117557	0.37339	.	.	ENSG00000085465	ENST00000369732;ENST00000369728	T	0.05081	3.5	4.57	3.36	0.38483	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.686598	0.15129	N	0.278929	T	0.02267	0.0070	N	0.17723	0.515	0.80722	D	1	B;B	0.23540	0.087;0.087	B;B	0.34346	0.18;0.18	T	0.32052	-0.9921	10	0.56958	D	0.05	-10.0083	7.0276	0.24948	0.3:0.0:0.0:0.7	.	22;22	B2RA77;Q12889	.;OVGP1_HUMAN	R	22;64	ENSP00000358747:H22R	ENSP00000358743:H64R	H	-	2	0	OVGP1	111770777	1.000000	0.71417	0.999000	0.59377	0.783000	0.44284	1.493000	0.35605	2.040000	0.60383	0.402000	0.26972	CAT		0.547	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		5	20	0	0	0	1	0	5	20				
XRN1	54464	broad.mit.edu	37	3	142142437	142142437	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:142142437T>A	ENST00000264951.4	-	6	792	c.675A>T	c.(673-675)agA>agT	p.R225S	XRN1_ENST00000392981.2_Missense_Mutation_p.R225S|XRN1_ENST00000544157.1_Missense_Mutation_p.R15S|XRN1_ENST00000463916.1_Missense_Mutation_p.R225S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	225					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAACTTCTTCTCTTAAGAGAG	0.289																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(673-675)agA>agT		5'-3' exoribonuclease 1							113.0	109.0	110.0					3																	142142437		2200	4298	6498	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142142437T>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.675A>T	3.37:g.142142437T>A	ENSP00000264951:p.Arg225Ser					XRN1_ENST00000463916.1_Missense_Mutation_p.R225S|XRN1_ENST00000544157.1_Missense_Mutation_p.R15S|XRN1_ENST00000392981.2_Missense_Mutation_p.R225S	p.R225S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			6	792	-			225					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.675A>T	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.398940	0.83120	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157;ENST00000477237	T;T	0.58652	0.32;0.32	5.52	4.35	0.52113	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.987;1.0;1.0;0.966;0.98	D	0.84906	0.0845	10	0.87932	D	0	-18.3307	11.6764	0.51432	0.0:0.0707:0.0:0.9293	.	15;225;86;225;225	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	S	225;225;225;15;86	ENSP00000264951:R225S;ENSP00000376707:R225S	ENSP00000264951:R225S	R	-	3	2	XRN1	143625127	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.065000	0.49994	2.109000	0.64355	0.377000	0.23210	AGA		0.289	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		9	31	0	0	0	1	0	9	31				
OR5J2	282775	broad.mit.edu	37	11	55944181	55944181	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55944181G>T	ENST00000312298.1	+	1	88	c.88G>T	c.(88-90)Gtg>Ttg	p.V30L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCTTTTTGTGGTGTTCCTGGT	0.388																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(88-90)Gtg>Ttg		olfactory receptor, family 5, subfamily J, member 2							180.0	170.0	173.0					11																	55944181		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944181G>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.88G>T	11.37:g.55944181G>T	ENSP00000310788:p.Val30Leu						p.V30L	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	88	+	Esophageal squamous(21;0.00693)		30					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.88G>T	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.431454	0.00184	.	.	ENSG00000174957	ENST00000312298	T	0.00682	5.86	4.56	-2.44	0.06502	.	0.699027	0.11708	N	0.537176	T	0.00328	0.0010	N	0.02111	-0.68	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43637	-0.9379	10	0.02654	T	1	.	5.7213	0.17988	0.0:0.4358:0.3367:0.2275	.	30	Q8NH18	OR5J2_HUMAN	L	30	ENSP00000310788:V30L	ENSP00000310788:V30L	V	+	1	0	OR5J2	55700757	0.000000	0.05858	0.013000	0.15412	0.005000	0.04900	-4.735000	0.00192	-0.043000	0.13513	-1.387000	0.01160	GTG		0.388	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		37	123	1	0	2.87052e-16	1	4.38738e-16	37	123				
MAP3K7	6885	broad.mit.edu	37	6	91226340	91226340	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:91226340C>G	ENST00000369329.3	-	17	1862	c.1701G>C	c.(1699-1701)ctG>ctC	p.L567L	MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369320.1_Silent_p.L221L|MAP3K7_ENST00000369332.3_Silent_p.L540L|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369325.3_3'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	567					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTTCCTGTACCAGGCGAGATG	0.383																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(1699-1701)ctG>ctC		mitogen-activated protein kinase kinase kinase 7							154.0	141.0	145.0					6																	91226340		2203	4300	6503	SO:0001819	synonymous_variant	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91226340C>G	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1701G>C	6.37:g.91226340C>G						MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_Silent_p.L540L|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369320.1_Silent_p.L221L	p.L567L	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	17	1862	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	567					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	ENST00000369329.3	37	c.1701G>C	CCDS5028.1																																																																																				0.383	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		14	40	0	0	0	1	0	14	40				
MRPL15	29088	broad.mit.edu	37	8	55049212	55049212	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:55049212A>T	ENST00000260102.4	+	2	324	c.250A>T	c.(250-252)Aac>Tac	p.N84Y		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	84					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ATACGGGTTTAACGAAGGACA	0.438																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(250-252)Aac>Tac		mitochondrial ribosomal protein L15							74.0	79.0	78.0					8																	55049212		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55049212A>T	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.250A>T	8.37:g.55049212A>T	ENSP00000260102:p.Asn84Tyr						p.N84Y	NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		2	324	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	84					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.250A>T	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538875	0.45176	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.43	5.43	0.79202	Ribosomal protein L18e/L15P (2);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	L	0.41961	1.31	0.80722	D	1	B	0.21225	0.053	B	0.22601	0.04	T	0.49513	-0.8932	9	0.08179	T	0.78	-26.9982	15.4996	0.75687	1.0:0.0:0.0:0.0	.	84	Q9P015	RM15_HUMAN	Y	84	.	ENSP00000260102:N84Y	N	+	1	0	MRPL15	55211765	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.327000	0.96396	2.042000	0.60477	0.533000	0.62120	AAC		0.438	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		33	55	0	0	0	1	0	33	55				
FAM208B	54906	broad.mit.edu	37	10	5765644	5765644	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:5765644C>A	ENST00000328090.5	+	7	776	c.151C>A	c.(151-153)Cag>Aag	p.Q51K	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	51																	TTTCAGACCGCAGGAACTAGA	0.313																																						ENST00000328090.5																			0											c.(151-153)Cag>Aag		family with sequence similarity 208, member B							101.0	97.0	99.0					10																	5765644		1806	4075	5881	SO:0001583	missense	54906							g.chr10:5765644C>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.151C>A	10.37:g.5765644C>A	ENSP00000328426:p.Gln51Lys					RP11-336A10.2_ENST00000411512.2_RNA	p.Q51K	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			7	776	+			51					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.151C>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093515	0.08632	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.42900	0.96	5.95	5.03	0.67393	.	0.545413	0.17990	N	0.155251	T	0.26085	0.0636	N	0.19112	0.55	0.19575	N	0.999962	B	0.26318	0.146	B	0.22152	0.038	T	0.15492	-1.0435	10	0.18710	T	0.47	.	10.2197	0.43190	0.0:0.9027:0.0:0.0973	.	51	Q5VWN6	F208B_HUMAN	K	51	ENSP00000328426:Q51K	ENSP00000328426:Q51K	Q	+	1	0	C10orf18	5805650	0.710000	0.27896	0.991000	0.47740	0.350000	0.29205	2.589000	0.46145	1.440000	0.47531	0.650000	0.86243	CAG		0.313	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		13	40	1	0	9.05144e-12	1	1.23848e-11	13	40				
TRIM48	79097	broad.mit.edu	37	11	55036775	55036775	+	Silent	SNP	G	G	T	rs369412991		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:55036775G>T	ENST00000417545.2	+	5	722	c.636G>T	c.(634-636)ggG>ggT	p.G212G		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	196						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGGGCAGGGCCCATCACTG	0.507																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(634-636)ggG>ggT		tripartite motif containing 48							50.0	41.0	44.0					11																	55036775		2097	3971	6068	SO:0001819	synonymous_variant	79097					intracellular	zinc ion binding	g.chr11:55036775G>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.636G>T	11.37:g.55036775G>T							p.G212G	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			5	722	+			196					Q9BUW4	Silent	SNP	ENST00000417545.2	37	c.636G>T	CCDS7947.2																																																																																				0.507	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			9	45	1	0	3.07112e-06	1	3.55317e-06	9	45				
LAMA3	3909	broad.mit.edu	37	18	21489242	21489242	+	Silent	SNP	A	A	C	rs201930248		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:21489242A>C	ENST00000313654.9	+	55	7382	c.7141A>C	c.(7141-7143)Aga>Cga	p.R2381R	LAMA3_ENST00000587184.1_Silent_p.R716R|LAMA3_ENST00000269217.6_Silent_p.R772R|LAMA3_ENST00000399516.3_Silent_p.R2325R|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2381	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCAGCAGGCCAGAGATGCTGC	0.433																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(7141-7143)Aga>Cga		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						119.0	106.0	110.0					18																	21489242		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21489242A>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7141A>C	18.37:g.21489242A>C						LAMA3_ENST00000269217.6_Silent_p.R772R|LAMA3_ENST00000399516.3_Silent_p.R2325R|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.R716R	p.R2381R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			55	7382	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2381			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.7141A>C	CCDS42419.1																																																																																				0.433	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		13	43	0	0	0	1	0	13	43				
HOXD3	3232	broad.mit.edu	37	2	177034365	177034365	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:177034365A>T	ENST00000468418.3	+	3	2613	c.523A>T	c.(523-525)Aac>Tac	p.N175Y	HOXD3_ENST00000410016.1_Missense_Mutation_p.N175Y|HOXD3_ENST00000249440.3_Missense_Mutation_p.N175Y			P31249	HXD3_HUMAN	homeobox D3	175					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CAAGCAGAAGAACAGCTGTGC	0.562																																						ENST00000468418.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(523-525)Aac>Tac		homeobox D3							78.0	81.0	80.0					2																	177034365		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177034365A>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.523A>T	2.37:g.177034365A>T	ENSP00000424734:p.Asn175Tyr					HOXD3_ENST00000249440.3_Missense_Mutation_p.N175Y|HOXD3_ENST00000410016.1_Missense_Mutation_p.N175Y	p.N175Y			P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	2613	+			175					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.523A>T	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.350970	0.82132	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.90261	-2.64;-2.64;-2.64	5.59	5.59	0.84812	Homeodomain-related (1);	0.207214	0.64402	D	0.000019	D	0.89945	0.6862	M	0.64997	1.995	0.51482	D	0.999922	P	0.48407	0.91	B	0.43575	0.424	D	0.89755	0.3943	9	.	.	.	.	16.0668	0.80887	1.0:0.0:0.0:0.0	.	175	P31249	HXD3_HUMAN	Y	175	ENSP00000424734:N175Y;ENSP00000386498:N175Y;ENSP00000249440:N175Y	.	N	+	1	0	HOXD3	176742611	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	5.775000	0.68915	2.246000	0.74042	0.533000	0.62120	AAC		0.562	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			33	85	0	0	0	1	0	33	85				
OR4K14	122740	broad.mit.edu	37	14	20482659	20482659	+	Missense_Mutation	SNP	C	C	T	rs374172388		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20482659C>T	ENST00000305045.2	-	1	693	c.694G>A	c.(694-696)Ggt>Agt	p.G232S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GATGTGCTACCGGCAGCACGC	0.493																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(694-696)Ggt>Agt		olfactory receptor, family 4, subfamily K, member 14		C	SER/GLY	0,4406		0,0,2203	99.0	80.0	87.0		694	3.1	0.4	14		87	1,8599		0,1,4299	no	missense	OR4K14	NM_001004712.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	232/311	20482659	1,13005	2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482659C>T		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.694G>A	14.37:g.20482659C>T	ENSP00000305011:p.Gly232Ser						p.G232S	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	693	-	all_cancers(95;0.00108)		232					Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.694G>A	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	0.515	-0.864570	0.02590	0.0	1.16E-4	ENSG00000169484	ENST00000305045	T	0.00044	8.83	4.04	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.389734	0.18763	N	0.131825	T	0.00073	0.0002	N	0.05330	-0.07	0.09310	N	1	B	0.23249	0.082	B	0.23150	0.044	T	0.20371	-1.0277	10	0.32370	T	0.25	.	11.0332	0.47785	0.0:0.9024:0.0:0.0976	.	232	Q8NGD5	OR4KE_HUMAN	S	232	ENSP00000305011:G232S	ENSP00000305011:G232S	G	-	1	0	OR4K14	19552499	0.000000	0.05858	0.442000	0.26870	0.129000	0.20672	0.076000	0.14712	2.086000	0.62901	0.505000	0.49811	GGT		0.493	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			17	24	0	0	0	1	0	17	24				
IL19	29949	broad.mit.edu	37	1	207013254	207013254	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:207013254C>T	ENST00000270218.6	+	5	1209	c.270C>T	c.(268-270)ttC>ttT	p.F90F	IL19_ENST00000340758.2_Silent_p.F128F	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	90					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACAGGGTGTTCAAGGATCATC	0.478																																						ENST00000270218.6																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(268-270)ttC>ttT		interleukin 19							255.0	240.0	245.0					1																	207013254		2203	4300	6503	SO:0001819	synonymous_variant	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207013254C>T	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.270C>T	1.37:g.207013254C>T						IL19_ENST00000340758.2_Silent_p.F128F	p.F90F	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		5	1209	+			90					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Silent	SNP	ENST00000270218.6	37	c.270C>T	CCDS1469.1																																																																																				0.478	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		57	204	0	0	0	1	0	57	204				
RAN	5901	broad.mit.edu	37	12	131359090	131359090	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:131359090G>A	ENST00000543796.1	+	5	505		c.e5-1		RAN_ENST00000541630.1_Splice_Site|RAN_ENST00000392369.2_Splice_Site|RAN_ENST00000254675.3_Splice_Site|RAN_ENST00000392367.3_Splice_Site			P62826	RAN_HUMAN	RAN, member RAS oncogene family						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TGTTTCTTCAGCCCAGTGTGC	0.403																																						ENST00000543796.1																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9						c.e5-1		RAN, member RAS oncogene family							114.0	94.0	101.0					12																	131359090		2203	4300	6503	SO:0001630	splice_region_variant	5901				androgen receptor signaling pathway|cell division|DNA metabolic process|mitosis|mitotic spindle organization|positive regulation of transcription, DNA-dependent|protein export from nucleus|RNA export from nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|melanosome|nuclear pore|nucleoplasm	androgen receptor binding|chromatin binding|GTP binding|GTPase activity|transcription coactivator activity	g.chr12:131359090G>A	M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.248-1G>A	12.37:g.131359090G>A						RAN_ENST00000392369.2_Splice_Site|RAN_ENST00000392367.3_Splice_Site|RAN_ENST00000254675.3_Splice_Site|RAN_ENST00000541630.1_Splice_Site				P62826	RAN_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)	5	505	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)						A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Splice_Site	SNP	ENST00000543796.1	37		CCDS9271.1	.	.	.	.	.	.	.	.	.	.	.	15.25	2.776714	0.49786	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000392369;ENST00000535090;ENST00000392367	.	.	.	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3182	0.74099	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAN	129925043	1.000000	0.71417	0.983000	0.44433	0.579000	0.36224	7.502000	0.81614	1.906000	0.55180	0.561000	0.74099	.		0.403	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259441.2	NM_006325	Intron	10	29	0	0	0	1	0	10	29				
KRTAP9-3	83900	broad.mit.edu	37	17	39388967	39388967	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:39388967C>A	ENST00000411528.2	+	1	253	c.214C>A	c.(214-216)Cag>Aag	p.Q72K		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	72	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CAGCTGCTGCCAGCCTTCCTG	0.597																																						ENST00000411528.2																			0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(214-216)Cag>Aag		keratin associated protein 9-3							78.0	78.0	78.0					17																	39388967		2101	4300	6401	SO:0001583	missense	83900					keratin filament	protein binding	g.chr17:39388967C>A	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.214C>A	17.37:g.39388967C>A	ENSP00000392189:p.Gln72Lys						p.Q72K	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	253	+		Breast(137;0.000496)	72			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Missense_Mutation	SNP	ENST00000411528.2	37	c.214C>A	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	0.494	-0.874091	0.02550	.	.	ENSG00000204873	ENST00000411528	T	0.01538	4.79	2.07	1.04	0.20106	.	.	.	.	.	T	0.02727	0.0082	L	0.53729	1.69	0.09310	N	1	.	.	.	.	.	.	T	0.43180	-0.9407	7	0.35671	T	0.21	.	4.5402	0.12054	0.2536:0.4975:0.2489:0.0	.	.	.	.	K	72	ENSP00000392189:Q72K	ENSP00000392189:Q72K	Q	+	1	0	KRTAP9-3	36642493	0.000000	0.05858	0.008000	0.14137	0.423000	0.31445	-1.083000	0.03397	0.424000	0.26061	0.194000	0.17425	CAG		0.597	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			20	68	1	0	2.37509e-13	1	3.40256e-13	20	68				
GDNF	2668	broad.mit.edu	37	5	37834853	37834853	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:37834853T>A	ENST00000326524.2	-	2	245	c.46A>T	c.(46-48)Acc>Tcc	p.T16S	GDNF_ENST00000515058.1_Missense_Mutation_p.T16S|GDNF_ENST00000381826.4_Missense_Mutation_p.T33S|GDNF_ENST00000344622.4_Missense_Mutation_p.T16S|GDNF_ENST00000427982.1_Missense_Mutation_p.T33S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	16					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GCGGACGCGGTGTGGAGCAGC	0.726																																						ENST00000326524.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(46-48)Acc>Tcc		glial cell derived neurotrophic factor							25.0	27.0	26.0					5																	37834853		2202	4299	6501	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37834853T>A		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.46A>T	5.37:g.37834853T>A	ENSP00000317145:p.Thr16Ser					GDNF_ENST00000515058.1_Missense_Mutation_p.T16S|GDNF_ENST00000344622.4_Missense_Mutation_p.T16S|GDNF_ENST00000381826.4_Missense_Mutation_p.T33S|GDNF_ENST00000427982.1_Missense_Mutation_p.T33S	p.T16S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN			2	245	-	all_lung(31;0.00118)		16					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.46A>T	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304379	0.60305	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826;ENST00000502572;ENST00000510177	D;D;D;D;D;T;T	0.93488	-3.05;-3.2;-3.2;-3.07;-3.23;-1.1;-1.1	5.84	5.84	0.93424	.	0.151822	0.64402	D	0.000020	D	0.88115	0.6350	L	0.46157	1.445	0.37058	D	0.897915	P;B;B;B	0.34546	0.456;0.084;0.264;0.005	B;B;B;B	0.23419	0.046;0.04;0.033;0.006	D	0.87412	0.2376	10	0.09084	T	0.74	6.8505	14.4434	0.67333	0.0:0.0:0.0:1.0	.	16;33;33;16	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	S	16;16;16;33;33;16;16	ENSP00000317145:T16S;ENSP00000339703:T16S;ENSP00000425928:T16S;ENSP00000409007:T33S;ENSP00000371248:T33S;ENSP00000423557:T16S;ENSP00000424592:T16S	ENSP00000317145:T16S	T	-	1	0	GDNF	37870610	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.372000	0.34261	2.227000	0.72691	0.533000	0.62120	ACC		0.726	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		37	56	0	0	0	1	0	37	56				
LRRC46	90506	broad.mit.edu	37	17	45914284	45914284	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:45914284C>A	ENST00000269025.4	+	8	1127	c.764C>A	c.(763-765)gCg>gAg	p.A255E		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	255										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCCACTCCTGCGCAAGGGGAG	0.647																																						ENST00000269025.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(763-765)gCg>gAg		leucine rich repeat containing 46							73.0	76.0	75.0					17																	45914284		2203	4300	6503	SO:0001583	missense	90506							g.chr17:45914284C>A		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.764C>A	17.37:g.45914284C>A	ENSP00000269025:p.Ala255Glu						p.A255E	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN			8	1127	+			255					A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	37	c.764C>A	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	C	3.889	-0.024451	0.07589	.	.	ENSG00000141294	ENST00000269025	T	0.73469	-0.75	5.0	-10.0	0.00425	.	1.719300	0.03164	N	0.169764	T	0.40694	0.1127	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46289	-0.9202	10	0.02654	T	1	3.2502	2.7031	0.05154	0.4228:0.3185:0.1521:0.1066	.	255;255	A8K9Q0;Q96FV0	.;LRC46_HUMAN	E	255	ENSP00000269025:A255E	ENSP00000269025:A255E	A	+	2	0	LRRC46	43269283	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-3.188000	0.00566	-1.458000	0.01916	-0.242000	0.12053	GCG		0.647	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		30	120	1	0	1.08312e-15	1	1.62824e-15	30	120				
NEO1	4756	broad.mit.edu	37	15	73580727	73580727	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:73580727G>C	ENST00000339362.5	+	25	3931	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H			Q92859	NEO1_HUMAN	neogenin 1	1162					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAAACCTCCAGATCTCTGGAT	0.463																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(3484-3486)Gat>Cat		neogenin 1							107.0	106.0	106.0					15																	73580727		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73580727G>C	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3484G>C	15.37:g.73580727G>C	ENSP00000341198:p.Asp1162His					NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H|NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H	p.D1162H			Q92859	NEO1_HUMAN			25	3931	+			1162					B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.3484G>C	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724975	0.89298	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.70986	-0.53;-0.53	5.52	5.52	0.82312	Neogenin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86078	0.1542	10	0.87932	D	0	-19.7695	19.4327	0.94778	0.0:0.0:1.0:0.0	.	1162;1151;873;1162	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	H	1162;873;1162	ENSP00000341198:D1162H;ENSP00000261908:D1162H	ENSP00000261908:D1162H	D	+	1	0	NEO1	71367780	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.594000	0.87642	0.561000	0.74099	GAT		0.463	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		20	76	0	0	0	1	0	20	76				
NKAP	79576	broad.mit.edu	37	X	119077278	119077278	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:119077278C>A	ENST00000371410.3	-	1	457	c.291G>T	c.(289-291)tcG>tcT	p.S97S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	97	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AATAGACTGACGAGGAGGCAG	0.657																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(289-291)tcG>tcT		NFKB activating protein							36.0	36.0	36.0					X																	119077278		2203	4299	6502	SO:0001819	synonymous_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077278C>A	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.291G>T	X.37:g.119077278C>A							p.S97S	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			1	457	-			97			Ser-rich.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.291G>T	CCDS14592.1																																																																																				0.657	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		15	40	1	0	3.32936e-07	1	4.00399e-07	15	40				
NUTM1	256646	broad.mit.edu	37	15	34640379	34640379	+	Missense_Mutation	SNP	G	G	A	rs535995310		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:34640379G>A	ENST00000333756.4	+	2	381	c.226G>A	c.(226-228)Ggg>Agg	p.G76R	NUTM1_ENST00000438749.3_Missense_Mutation_p.G94R|NUTM1_ENST00000537011.1_Missense_Mutation_p.G104R	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	76	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)											GACAGGGGATGGGGGCCCTTG	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14653	0.0		0.0	False		,,,				2504	0.0					ENST00000537011.1																			0											c.(310-312)Ggg>Agg		NUT midline carcinoma, family member 1							88.0	87.0	87.0					15																	34640379		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34640379G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.226G>A	15.37:g.34640379G>A	ENSP00000329448:p.Gly76Arg					NUTM1_ENST00000438749.3_Missense_Mutation_p.G94R|NUTM1_ENST00000333756.4_Missense_Mutation_p.G76R	p.G104R							3	692	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.310G>A	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268757	0.40095	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000354999;ENST00000333756	T;T;T	0.28069	1.63;1.63;1.63	5.69	3.83	0.44106	Nuclear Testis  protein, N-terminal (1);	0.452974	0.20961	N	0.082576	T	0.35624	0.0938	L	0.59436	1.845	0.09310	N	1	P;P;P	0.47604	0.898;0.875;0.898	P;P;P	0.49192	0.602;0.467;0.602	T	0.16276	-1.0408	10	0.52906	T	0.07	.	7.6815	0.28515	0.184:0.0:0.816:0.0	.	94;104;76	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	R	104;94;76;76	ENSP00000444896:G104R;ENSP00000407031:G94R;ENSP00000329448:G76R	ENSP00000329448:G76R	G	+	1	0	C15orf55	32427671	0.510000	0.26171	0.005000	0.12908	0.447000	0.32167	1.490000	0.35573	1.420000	0.47138	0.655000	0.94253	GGG		0.567	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		42	139	0	0	0	1	0	42	139				
MROH2B	133558	broad.mit.edu	37	5	41018519	41018519	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:41018519C>A	ENST00000399564.4	-	27	3137	c.2687G>T	c.(2686-2688)tGg>tTg	p.W896L	MROH2B_ENST00000506092.2_Missense_Mutation_p.W451L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	896																	TGAAACAAGCCACATTTGGAG	0.363																																						ENST00000399564.4																			0											c.(2686-2688)tGg>tTg		maestro heat-like repeat family member 2B							75.0	70.0	72.0					5																	41018519		1849	4093	5942	SO:0001583	missense	133558							g.chr5:41018519C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2687G>T	5.37:g.41018519C>A	ENSP00000382476:p.Trp896Leu					MROH2B_ENST00000506092.2_Missense_Mutation_p.W451L	p.W896L	NM_173489.4	NP_775760.3					27	3137	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2687G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257821	0.80246	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.63417	0.12;-0.04	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.53938	D	0.000052	T	0.79203	0.4406	M	0.74647	2.275	0.45806	D	0.998689	D	0.89917	1.0	D	0.85130	0.997	T	0.80261	-0.1456	10	0.72032	D	0.01	.	15.9221	0.79583	0.0:1.0:0.0:0.0	.	896	Q7Z745	HTRB2_HUMAN	L	451;601;896	ENSP00000441504:W451L;ENSP00000382476:W896L	ENSP00000296803:W601L	W	-	2	0	HEATR7B2	41054276	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.549000	0.53681	2.832000	0.97577	0.655000	0.94253	TGG		0.363	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		3	21	1	0	0.115264	1	0.116282	3	21				
DBX1	120237	broad.mit.edu	37	11	20180738	20180738	+	Splice_Site	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:20180738T>G	ENST00000524983.2	-	2	756	c.468A>C	c.(466-468)ccA>ccC	p.P156P	DBX1_ENST00000227256.3_Splice_Site_p.P156P			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	156					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GAGACCTACCTGGGAAATAAG	0.607																																						ENST00000524983.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.e2+1		developing brain homeobox 1							94.0	93.0	93.0					11																	20180738		2203	4300	6503	SO:0001630	splice_region_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20180738T>G			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.469+1A>C	11.37:g.20180738T>G						DBX1_ENST00000227256.3_Splice_Site_p.P156_splice	p.P156_splice			A6NMT0	DBX1_HUMAN			2	756	-			156						Splice_Site	SNP	ENST00000524983.2	37	c.469_splice																																																																																					0.607	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865	Silent	12	67	0	0	0	1	0	12	67				
TENM1	10178	broad.mit.edu	37	X	123839067	123839067	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:123839067C>A	ENST00000371130.3	-	5	874	c.811G>T	c.(811-813)Gcg>Tcg	p.A271S	TENM1_ENST00000422452.2_Missense_Mutation_p.A271S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	271	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGAAGATCGCAGAGGAACCA	0.493																																						ENST00000422452.2																			0											c.(811-813)Gcg>Tcg		teneurin transmembrane protein 1							105.0	92.0	96.0					X																	123839067		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123839067C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.811G>T	X.37:g.123839067C>A	ENSP00000360171:p.Ala271Ser					TENM1_ENST00000371130.3_Missense_Mutation_p.A271S	p.A271S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					5	874	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.811G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783971	0.70222	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.29397	1.57;1.57	5.69	5.69	0.88448	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	L	0.34521	1.04	0.58432	D	0.999993	D;D;P	0.69078	0.997;0.997;0.711	D;D;B	0.80764	0.994;0.994;0.247	T	0.30679	-0.9970	10	0.49607	T	0.09	.	14.3651	0.66801	0.0:0.8563:0.1437:0.0	.	271;271;271	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	271	ENSP00000360171:A271S;ENSP00000403954:A271S	ENSP00000360171:A271S	A	-	1	0	ODZ1	123666748	0.984000	0.35163	0.985000	0.45067	0.957000	0.61999	2.562000	0.45914	2.384000	0.81235	0.523000	0.50628	GCG		0.493	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		45	85	1	0	1.76056e-25	1	2.89415e-25	45	85				
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(397-399)Agc>Ggc		mucin 21, cell surface associated							165.0	154.0	158.0					6																	30954349		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954349A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.397A>G	6.37:g.30954349A>G	ENSP00000365473:p.Ser133Gly					MUC21_ENST00000486149.2_5'UTR	p.S133G	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	638	+			133			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.397A>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181861	0.38511	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02369	4.32	3.56	0.787	0.18596	.	.	.	.	.	T	0.00666	0.0022	L	0.27053	0.805	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.46789	-0.9166	8	.	.	.	-0.1118	4.2711	0.10787	0.7116:0.0:0.1109:0.1775	.	133	Q5SSG8	MUC21_HUMAN	G	133	ENSP00000365473:S133G	.	S	+	1	0	MUC21	31062328	0.000000	0.05858	0.004000	0.12327	0.164000	0.22412	0.014000	0.13333	0.527000	0.28560	0.397000	0.26171	AGC		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		5	319	0	0	0	1	0	5	319				
AGTR1	185	broad.mit.edu	37	3	148459682	148459682	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:148459682C>A	ENST00000497524.1	+	2	1251	c.860C>A	c.(859-861)aCc>aAc	p.T287N	AGTR1_ENST00000404754.2_Missense_Mutation_p.T287N|AGTR1_ENST00000349243.3_Missense_Mutation_p.T287N|AGTR1_ENST00000402260.1_Missense_Mutation_p.T287N|AGTR1_ENST00000475347.1_Missense_Mutation_p.T287N|AGTR1_ENST00000542281.1_Missense_Mutation_p.T287N|AGTR1_ENST00000474935.1_Missense_Mutation_p.T287N|AGTR1_ENST00000461609.1_Missense_Mutation_p.T287N|AGTR1_ENST00000418473.2_Missense_Mutation_p.T287N	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	287					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	ATGCCTATCACCATTTGTATA	0.343																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(859-861)aCc>aAc		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						99.0	91.0	94.0					3																	148459682		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459682C>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.860C>A	3.37:g.148459682C>A	ENSP00000419422:p.Thr287Asn					AGTR1_ENST00000404754.2_Missense_Mutation_p.T287N|AGTR1_ENST00000349243.3_Missense_Mutation_p.T287N|AGTR1_ENST00000418473.2_Missense_Mutation_p.T287N|AGTR1_ENST00000475347.1_Missense_Mutation_p.T287N|AGTR1_ENST00000497524.1_Missense_Mutation_p.T287N|AGTR1_ENST00000461609.1_Missense_Mutation_p.T287N|AGTR1_ENST00000474935.1_Missense_Mutation_p.T287N|AGTR1_ENST00000402260.1_Missense_Mutation_p.T287N	p.T287N	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1306	+			287					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.860C>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272737	0.80580	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	H	0.97707	4.06	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.87327	0.2322	10	0.72032	D	0.01	-23.7543	19.976	0.97309	0.0:1.0:0.0:0.0	.	287	P30556	AGTR1_HUMAN	N	287	ENSP00000419422:T287N;ENSP00000273430:T287N;ENSP00000443186:T287N;ENSP00000398832:T287N;ENSP00000385612:T287N;ENSP00000419783:T287N;ENSP00000418084:T287N;ENSP00000418851:T287N;ENSP00000385641:T287N	ENSP00000273430:T287N	T	+	2	0	AGTR1	149942372	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.003000	0.70701	2.713000	0.92767	0.655000	0.94253	ACC		0.343	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			5	72	1	0	0.014758	1	0.0151389	5	72				
ANLN	54443	broad.mit.edu	37	7	36438973	36438973	+	Missense_Mutation	SNP	G	G	T	rs576328951		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:36438973G>T	ENST00000265748.2	+	3	679	c.458G>T	c.(457-459)cGg>cTg	p.R153L	ANLN_ENST00000396068.2_Missense_Mutation_p.R153L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	153	Interaction with CD2AP.|Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCAGAGCAACGGCGCCGTTGG	0.448																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(457-459)cGg>cTg		anillin, actin binding protein							57.0	55.0	56.0					7																	36438973		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36438973G>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.458G>T	7.37:g.36438973G>T	ENSP00000265748:p.Arg153Leu					ANLN_ENST00000396068.2_Missense_Mutation_p.R153L	p.R153L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			3	679	+			153			Interaction with CD2AP.|Nuclear localization.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.458G>T	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819467	0.90873	.	.	ENSG00000011426	ENST00000265748;ENST00000396068;ENST00000424865	T;T;T	0.03272	3.99;3.99;3.99	5.56	5.56	0.83823	.	0.044900	0.85682	D	0.000000	T	0.20292	0.0488	M	0.74258	2.255	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.999	T	0.00035	-1.2260	10	0.72032	D	0.01	-13.8935	19.91	0.97023	0.0:0.0:1.0:0.0	.	30;153;153;153	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	L	153;153;131	ENSP00000265748:R153L;ENSP00000379380:R153L;ENSP00000404979:R131L	ENSP00000265748:R153L	R	+	2	0	ANLN	36405498	1.000000	0.71417	0.930000	0.37139	0.688000	0.40055	7.714000	0.84703	2.782000	0.95742	0.655000	0.94253	CGG		0.448	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		15	40	1	0	6.72482e-11	1	8.9599e-11	15	40				
TTN	7273	broad.mit.edu	37	2	179442852	179442852	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179442852G>C	ENST00000591111.1	-	272	63691	c.63467C>G	c.(63466-63468)cCg>cGg	p.P21156R	TTN_ENST00000342175.6_Missense_Mutation_p.P13924R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13857R|TTN_ENST00000460472.2_Missense_Mutation_p.P13732R|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P22797R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20229R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21156	Fibronectin type-III 53. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CATCCTTATCGGAGTCTTGTT	0.418																																						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.(68389-68391)cCg>cGg		titin							149.0	139.0	142.0					2																	179442852		1893	4119	6012	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442852G>C	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.63467C>G	2.37:g.179442852G>C	ENSP00000465570:p.Pro21156Arg					TTN_ENST00000359218.5_Missense_Mutation_p.P13857R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20229R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13924R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P21156R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13732R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.P22797R	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)		322	68614	-			21156			Ig-like 117.		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.68390C>G		.	.	.	.	.	.	.	.	.	.	G	12.30	1.896762	0.33535	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72495	0.3467	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.69307	0.963;0.963;0.963;0.963	T	0.73129	-0.4080	9	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	13732;13857;13924;21156	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	20229;13732;13924;13857;13730	ENSP00000343764:P20229R;ENSP00000434586:P13732R;ENSP00000340554:P13924R;ENSP00000352154:P13857R	ENSP00000340554:P13924R	P	-	2	0	TTN	179151098	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	6.653000	0.74382	2.822000	0.97130	0.650000	0.86243	CCG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	61	0	0	0	1	0	12	61				
AHNAK2	113146	broad.mit.edu	37	14	105419118	105419118	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:105419118C>A	ENST00000333244.5	-	7	2789	c.2670G>T	c.(2668-2670)ctG>ctT	p.L890L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	890						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGGACCTCCAGGTCAGCGG	0.642																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2668-2670)ctG>ctT		AHNAK nucleoprotein 2							118.0	136.0	130.0					14																	105419118		1882	4106	5988	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105419118C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2670G>T	14.37:g.105419118C>A						AHNAK2_ENST00000557457.1_Intron	p.L890L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2789	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	890					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.2670G>T	CCDS45177.1																																																																																				0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		168	232	1	0	2.1406e-88	1	3.62316e-88	168	232				
MUC3A	4584	broad.mit.edu	37	7	100552726	100552726	+	Missense_Mutation	SNP	C	C	A	rs549158856	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:100552726C>A	ENST00000319509.7	+	1	1477	c.1477C>A	c.(1477-1479)Cgc>Agc	p.R493S				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2158	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGGACAACTCGCATCACTTC	0.557																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1477-1479)Cgc>Agc		mucin 3A, cell surface associated							502.0	443.0	461.0					7																	100552726		876	1991	2867	SO:0001583	missense	4584							g.chr7:100552726C>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1477C>A	7.37:g.100552726C>A	ENSP00000324834:p.Arg493Ser						p.R493S							1	1477	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.1477C>A		.	.	.	.	.	.	.	.	.	.	C	0.060	-1.227046	0.01518	.	.	ENSG00000169894	ENST00000319509	T	0.05081	3.5	1.96	-3.37	0.04898	.	.	.	.	.	T	0.01765	0.0056	N	0.03608	-0.345	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	8	0.08837	T	0.75	.	0.1058	0.00052	0.2391:0.1826:0.2424:0.3359	.	2158	Q02505	MUC3A_HUMAN	S	493	ENSP00000324834:R493S	ENSP00000324834:R493S	R	+	1	0	MUC3A	100390662	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.694000	0.25512	-0.713000	0.04981	-0.518000	0.04402	CGC		0.557	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		52	212	1	0	2.22609e-26	1	3.67264e-26	52	212				
SH3KBP1	30011	broad.mit.edu	37	X	19702001	19702001	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:19702001C>A	ENST00000397821.3	-	6	956	c.666G>T	c.(664-666)aaG>aaT	p.K222N	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K185N|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.K266N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	222					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTTTGATTGGCTTGTCTTTGA	0.438																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.(664-666)aaG>aaT		SH3-domain kinase binding protein 1							183.0	163.0	170.0					X																	19702001		2203	4300	6503	SO:0001583	missense	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19702001C>A	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.666G>T	X.37:g.19702001C>A	ENSP00000380921:p.Lys222Asn					SH3KBP1_ENST00000379697.3_Missense_Mutation_p.K266N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K185N	p.K222N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			6	956	-			222					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	ENST00000397821.3	37	c.666G>T	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083549	0.36758	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.50548	1.47;1.53;1.29;1.12;0.74;0.88	5.82	1.41	0.22369	.	1.045670	0.07743	U	0.947206	T	0.59595	0.2205	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.78314	0.786;0.991	T	0.50474	-0.8824	10	0.36615	T	0.2	-17.1407	7.8222	0.29294	0.0:0.2575:0.0:0.7425	.	222;185	Q96B97;Q5JPT5	SH3K1_HUMAN;.	N	207;222;130;185;202;266;169;130	ENSP00000380921:K222N;ENSP00000369020:K185N;ENSP00000369049:K202N;ENSP00000369019:K266N;ENSP00000388766:K169N;ENSP00000409292:K130N	ENSP00000369019:K266N	K	-	3	2	SH3KBP1	19611922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.099000	0.31013	0.191000	0.20236	0.600000	0.82982	AAG		0.438	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892		35	90	1	0	4.00102e-26	1	6.58906e-26	35	90				
SPRY3	10251	broad.mit.edu	37	X	155004339	155004339	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:155004339T>A	ENST00000302805.2	+	2	1237	c.806T>A	c.(805-807)gTg>gAg	p.V269E		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	269	Cys-rich.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCAACACTGTGTGCAGAAAG	0.562																																						ENST00000302805.2																			0											c.(805-807)gTg>gAg		sprouty homolog 3 (Drosophila)							148.0	143.0	145.0					X																	155004339		2203	4296	6499	SO:0001583	missense	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004339T>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.806T>A	X.37:g.155004339T>A	ENSP00000302978:p.Val269Glu						p.V269E	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	1237	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		269			Cys-rich.		A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	c.806T>A	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	T	15.37	2.813425	0.50527	.	.	ENSG00000168939	ENST00000302805	T	0.60920	0.15	2.94	2.94	0.34122	.	0.000000	0.64402	D	0.000004	T	0.70211	0.3198	.	.	.	0.09310	N	1	D	0.64830	0.994	D	0.73708	0.981	T	0.59500	-0.7443	9	0.87932	D	0	-15.6964	8.6369	0.33953	0.0:0.0:0.0:1.0	.	269	O43610	SPY3_HUMAN	E	269	ENSP00000302978:V269E	ENSP00000302978:V269E	V	+	2	0	SPRY3	154657533	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.621000	0.67743	1.209000	0.43321	0.231000	0.17811	GTG		0.562	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		44	147	0	0	0	1	0	44	147				
MEGF9	1955	broad.mit.edu	37	9	123367689	123367689	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:123367689C>G	ENST00000373930.3	-	6	1699	c.1588G>C	c.(1588-1590)Gga>Cga	p.G530R	MEGF9_ENST00000426959.1_Missense_Mutation_p.G567R	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	530						integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CCCACAAATCCCATTAGCAGC	0.428																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(1588-1590)Gga>Cga		multiple EGF-like-domains 9							124.0	119.0	121.0					9																	123367689		1934	4163	6097	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123367689C>G	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1588G>C	9.37:g.123367689C>G	ENSP00000363040:p.Gly530Arg					MEGF9_ENST00000426959.1_Missense_Mutation_p.G567R	p.G530R	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			6	1699	-			530					B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.1588G>C	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493295	0.64186	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.27890	1.64;1.83	5.67	5.67	0.87782	.	0.109062	0.64402	D	0.000007	T	0.43299	0.1241	N	0.19112	0.55	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.42965	-0.9420	10	0.72032	D	0.01	-7.1541	17.9533	0.89061	0.0:1.0:0.0:0.0	.	567	C9J1K8	.	R	530;567	ENSP00000363040:G530R;ENSP00000392666:G567R	ENSP00000363040:G530R	G	-	1	0	MEGF9	122407510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.424000	0.66464	2.687000	0.91594	0.655000	0.94253	GGA		0.428	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		5	82	0	0	0	1	0	5	82				
OR10K1	391109	broad.mit.edu	37	1	158435519	158435519	+	Silent	SNP	T	T	C	rs371933530		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:158435519T>C	ENST00000289451.2	+	1	248	c.168T>C	c.(166-168)caT>caC	p.H56H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GAGCCCTTCATACTCCCATGT	0.478																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(166-168)caT>caC		olfactory receptor, family 10, subfamily K, member 1		T		0,4406		0,0,2203	218.0	186.0	197.0		168	-1.9	0.3	1		197	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR10K1	NM_001004473.1		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		56/314	158435519	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435519T>C	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.168T>C	1.37:g.158435519T>C							p.H56H	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	248	+	all_hematologic(112;0.0378)		56					Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.168T>C	CCDS30897.1																																																																																				0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			39	124	0	0	0	1	0	39	124				
GRID2	2895	broad.mit.edu	37	4	94031951	94031951	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:94031951T>C	ENST00000282020.4	+	4	840	c.582T>C	c.(580-582)gaT>gaC	p.D194D	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.D99D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	194					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGGGAATGGATGTTGCACTTC	0.388																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(580-582)gaT>gaC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						160.0	163.0	162.0					4																	94031951		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94031951T>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.582T>C	4.37:g.94031951T>C						GRID2_ENST00000510992.1_Silent_p.D99D|GRID2_ENST00000505687.1_3'UTR	p.D194D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	4	840	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	194					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.582T>C	CCDS3637.1																																																																																				0.388	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			19	87	0	0	0	1	0	19	87				
UBE2NL	389898	broad.mit.edu	37	X	142967296	142967296	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142967296G>T	ENST00000370494.1	+	1	124	c.94G>T	c.(94-96)Gcc>Tcc	p.A32S		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	32						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAGCAACGCCCGTTATTT	0.493																																						ENST00000370494.1																			0				breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(94-96)Gcc>Tcc		ubiquitin-conjugating enzyme E2N-like							85.0	83.0	84.0					X																	142967296		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967296G>T			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.94G>T	X.37:g.142967296G>T	ENSP00000359525:p.Ala32Ser						p.A32S	NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN			1	124	+	Acute lymphoblastic leukemia(192;6.56e-05)		32					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.94G>T	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	G	1.000	-0.691340	0.03303	.	.	ENSG00000102069	ENST00000370494	T	0.37915	1.17	1.1	0.181	0.15073	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.132156	0.27841	N	0.017633	T	0.29355	0.0731	L	0.54323	1.7	0.53688	D	0.999977	B	0.06786	0.001	B	0.22753	0.041	T	0.07654	-1.0761	10	0.56958	D	0.05	1.8671	6.0771	0.19921	0.0:0.0:0.6973:0.3027	.	32	Q5JXB2	UE2NL_HUMAN	S	32	ENSP00000359525:A32S	ENSP00000359525:A32S	A	+	1	0	UBE2NL	142794962	1.000000	0.71417	0.033000	0.17914	0.001000	0.01503	4.959000	0.63666	0.010000	0.14839	-1.121000	0.02013	GCC		0.493	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		36	120	1	0	4.11147e-13	1	5.82618e-13	36	120				
C4orf29	80167	broad.mit.edu	37	4	128949870	128949870	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:128949870A>T	ENST00000444616.1	+	10	1187	c.940A>T	c.(940-942)Aaa>Taa	p.K314*	C4orf29_ENST00000388795.5_Nonsense_Mutation_p.K266*|C4orf29_ENST00000398965.1_Nonsense_Mutation_p.K314*			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	314						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TTCAACCAACAAAAGTGGTTA	0.383																																						ENST00000388795.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(796-798)Aaa>Taa		chromosome 4 open reading frame 29							91.0	90.0	90.0					4																	128949870		1906	4130	6036	SO:0001587	stop_gained	80167					extracellular region		g.chr4:128949870A>T	AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.940A>T	4.37:g.128949870A>T	ENSP00000397229:p.Lys314*					C4orf29_ENST00000398965.1_Nonsense_Mutation_p.K314*|C4orf29_ENST00000444616.1_Nonsense_Mutation_p.K314*	p.K266*			Q0P651	CD029_HUMAN			11	1199	+			314					A1A4W8|A1A4W9|Q9H7A7	Nonsense_Mutation	SNP	ENST00000444616.1	37	c.796A>T		.	.	.	.	.	.	.	.	.	.	A	37	6.187748	0.97357	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	4.35	3.12	0.35913	.	0.545828	0.20902	N	0.083632	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3209	7.5725	0.27915	0.8273:0.0:0.1727:0.0	.	.	.	.	X	314;145;314;314;266;232;221	.	ENSP00000373447:K266X	K	+	1	0	C4orf29	129169320	0.993000	0.37304	0.980000	0.43619	0.763000	0.43281	3.380000	0.52448	1.831000	0.53308	0.528000	0.53228	AAA		0.383	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1	NM_001039717		22	73	0	0	0	1	0	22	73				
CHST10	9486	broad.mit.edu	37	2	101012074	101012074	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:101012074C>G	ENST00000264249.3	-	6	815	c.430G>C	c.(430-432)Gca>Cca	p.A144P	CHST10_ENST00000409701.1_Missense_Mutation_p.A144P|CHST10_ENST00000542617.1_Missense_Mutation_p.A192P	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	144					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAAGAAAATGCTCCTGGGAAG	0.517																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(430-432)Gca>Cca		carbohydrate sulfotransferase 10							87.0	75.0	79.0					2																	101012074		2203	4300	6503	SO:0001583	missense	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101012074C>G	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.430G>C	2.37:g.101012074C>G	ENSP00000264249:p.Ala144Pro					CHST10_ENST00000542617.1_Missense_Mutation_p.A192P|CHST10_ENST00000409701.1_Missense_Mutation_p.A144P	p.A144P	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			6	815	-			144					Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	c.430G>C	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986375	0.53934	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73681	-0.77;-0.77;-0.77	5.44	5.44	0.79542	.	0.181068	0.47852	D	0.000210	T	0.69904	0.3163	N	0.26042	0.785	0.80722	D	1	P	0.42203	0.773	P	0.45377	0.478	T	0.67538	-0.5645	10	0.29301	T	0.29	-19.1754	19.2685	0.93998	0.0:1.0:0.0:0.0	.	144	O43529	CHSTA_HUMAN	P	144;192;144	ENSP00000264249:A144P;ENSP00000438869:A192P;ENSP00000387309:A144P	ENSP00000264249:A144P	A	-	1	0	CHST10	100378506	1.000000	0.71417	0.969000	0.41365	0.123000	0.20343	4.814000	0.62627	2.562000	0.86427	0.655000	0.94253	GCA		0.517	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		7	26	0	0	0	1	0	7	26				
SLC25A3	5250	broad.mit.edu	37	12	98995169	98995169	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:98995169C>T	ENST00000228318.3	+	8	1072	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	SLC25A3_ENST00000188376.5_Missense_Mutation_p.R317C|SLC25A3_ENST00000548847.1_Missense_Mutation_p.R280C|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R318C|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R317C|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R317C|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R317C	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	318					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ACTGTTTGCCCGTATCATCAT	0.433																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(949-951)Cgt>Tgt		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							170.0	162.0	165.0					12																	98995169		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98995169C>T		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.952C>T	12.37:g.98995169C>T	ENSP00000228318:p.Arg318Cys					SLC25A3_ENST00000548847.1_Missense_Mutation_p.R280C|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R317C|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R318C|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R317C|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R317C|SLC25A3_ENST00000228318.3_Missense_Mutation_p.R318C	p.R317C	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	7	1303	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	318					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.949C>T	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029630	0.93518	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.046192	0.85682	D	0.000000	T	0.71871	0.3391	H	0.99117	4.435	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.963;0.987;0.999	D	0.84542	0.0639	10	0.87932	D	0	-12.8115	19.7153	0.96115	0.0:1.0:0.0:0.0	.	280;317;318;317	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	C	317;317;318;318;317;317;280	ENSP00000383898:R317C;ENSP00000188376:R317C;ENSP00000228318:R318C;ENSP00000447310:R318C;ENSP00000448708:R317C;ENSP00000447740:R317C;ENSP00000449166:R280C	ENSP00000188376:R317C	R	+	1	0	SLC25A3	97519300	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.251000	0.78297	2.731000	0.93534	0.655000	0.94253	CGT		0.433	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		14	74	0	0	0	1	0	14	74				
PBX4	80714	broad.mit.edu	37	19	19681102	19681102	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:19681102G>A	ENST00000251203.9	-	4	734	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	150					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTGAACTCACGACAGGCCTGG	0.662																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(448-450)Cgt>Tgt		pre-B-cell leukemia homeobox 4							54.0	43.0	47.0					19																	19681102		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19681102G>A	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.448C>T	19.37:g.19681102G>A	ENSP00000251203:p.Arg150Cys						p.R150C	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			4	734	-			150					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.448C>T	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035420	0.54896	.	.	ENSG00000105717	ENST00000251203	T	0.31769	1.48	3.51	-4.68	0.03309	PBX (1);	0.340349	0.33023	N	0.005380	T	0.17662	0.0424	L	0.51422	1.61	0.35979	D	0.835899	B	0.11235	0.004	B	0.06405	0.002	T	0.06041	-1.0849	10	0.72032	D	0.01	-14.7368	0.3911	0.00411	0.2227:0.2704:0.2503:0.2566	.	150	Q9BYU1	PBX4_HUMAN	C	150	ENSP00000251203:R150C	ENSP00000251203:R150C	R	-	1	0	PBX4	19542102	0.930000	0.31532	0.244000	0.24202	0.675000	0.39556	1.534000	0.36051	-0.453000	0.07076	0.505000	0.49811	CGT		0.662	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			7	20	0	0	0	1	0	7	20				
SLC4A4	8671	broad.mit.edu	37	4	72363367	72363367	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:72363367G>T	ENST00000264485.5	+	16	2241	c.2124G>T	c.(2122-2124)atG>atT	p.M708I	SLC4A4_ENST00000340595.3_Missense_Mutation_p.M664I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.M708I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.M708I	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	708					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCTCTTCCATGGCTCTGAAAA	0.363																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1990-1992)atG>atT		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							115.0	120.0	118.0					4																	72363367		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72363367G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2124G>T	4.37:g.72363367G>T	ENSP00000264485:p.Met708Ile					SLC4A4_ENST00000264485.5_Missense_Mutation_p.M708I|SLC4A4_ENST00000351898.6_Missense_Mutation_p.M708I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.M708I	p.M664I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		13	2188	+			708					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1992G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445746	0.43429	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.59	5.59	0.84812	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73721	0.3623	L	0.45137	1.4	0.80722	D	1	B;B;B;B	0.20052	0.022;0.041;0.017;0.022	B;B;B;B	0.25140	0.058;0.032;0.034;0.058	T	0.66496	-0.5909	10	0.21540	T	0.41	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	708;708;664;708	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	I	708;708;708;664	ENSP00000264485:M708I;ENSP00000393557:M708I;ENSP00000307349:M708I;ENSP00000344272:M664I	ENSP00000264485:M708I	M	+	3	0	SLC4A4	72582231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.783000	0.95769	0.655000	0.94253	ATG		0.363	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		15	59	1	0	1.67942e-08	1	2.11431e-08	15	59				
CPE	1363	broad.mit.edu	37	4	166385593	166385593	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:166385593G>T	ENST00000402744.4	+	2	639	c.359G>T	c.(358-360)gGa>gTa	p.G120V		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	120					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAGGCTGTTGGACGAGAACTG	0.428											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(358-360)gGa>gTa		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						181.0	159.0	166.0					4																	166385593		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166385593G>T	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.359G>T	4.37:g.166385593G>T	ENSP00000386104:p.Gly120Val		OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1854		p.G120V	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	2	639	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	120					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.359G>T	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585316	0.86748	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	5.3	5.3	0.74995	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55114	-0.8191	10	0.87932	D	0	-7.4126	18.9352	0.92583	0.0:0.0:1.0:0.0	.	120	P16870	CBPE_HUMAN	V	8;120;84;8;8	ENSP00000424830:G8V;ENSP00000386104:G120V;ENSP00000416601:G8V;ENSP00000423699:G8V	ENSP00000261510:G84V	G	+	2	0	CPE	166605043	1.000000	0.71417	0.992000	0.48379	0.896000	0.52359	9.777000	0.99008	2.483000	0.83821	0.585000	0.79938	GGA		0.428	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		6	34	1	0	0.0293803	1	0.0298043	6	34				
PLCXD3	345557	broad.mit.edu	37	5	41382320	41382320	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:41382320C>T	ENST00000377801.3	-	2	494	c.420G>A	c.(418-420)gtG>gtA	p.V140V	PLCXD3_ENST00000328457.3_Silent_p.V140V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	140	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGTCCAAGAACACTACCTCCT	0.408																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(418-420)gtG>gtA		phosphatidylinositol-specific phospholipase C, X domain containing 3							120.0	119.0	120.0					5																	41382320		2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382320C>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.420G>A	5.37:g.41382320C>T						PLCXD3_ENST00000328457.3_Silent_p.V140V	p.V140V			Q63HM9	PLCX3_HUMAN			2	494	-			140			PI-PLC X-box.		A6NL04	Silent	SNP	ENST00000377801.3	37	c.420G>A	CCDS34150.1																																																																																				0.408	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		46	85	0	0	0	1	0	46	85				
TTN	7273	broad.mit.edu	37	2	179504494	179504494	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179504494G>T	ENST00000591111.1	-	173	36109	c.35885C>A	c.(35884-35886)cCt>cAt	p.P11962H	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P4730H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4663H|TTN_ENST00000460472.2_Missense_Mutation_p.P4538H|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P13603H|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P11035H|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11962	Pro-rich.				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)			TTCCACAGGAGGTGGTTTGAT	0.418																																						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.(40807-40809)cCt>cAt		titin							123.0	119.0	120.0					2																	179504494		1861	4098	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179504494G>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.35885C>A	2.37:g.179504494G>T	ENSP00000465570:p.Pro11962His					TTN_ENST00000359218.5_Missense_Mutation_p.P4663H|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P11035H|TTN_ENST00000342175.6_Missense_Mutation_p.P4730H|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11962H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4538H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.P13603H	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)		223	41032	-			11962			Ig-like 92.		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.40808C>A		.	.	.	.	.	.	.	.	.	.	G	16.84	3.232833	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766	T;T;T;T	0.62639	0.01;0.19;0.17;0.16	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.68375	0.2994	L	0.36672	1.1	0.36468	D	0.867107	D;D;D;D;D	0.65815	0.975;0.975;0.975;0.975;0.995	P;P;P;P;P	0.58873	0.498;0.498;0.498;0.498;0.847	T	0.75819	-0.3183	9	0.87932	D	0	.	16.7339	0.85442	0.0:0.0:1.0:0.0	.	4538;4663;4730;11962;10729	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	H	11035;4538;4730;4663;4538;924	ENSP00000343764:P11035H;ENSP00000434586:P4538H;ENSP00000340554:P4730H;ENSP00000352154:P4663H	ENSP00000340554:P4730H	P	-	2	0	TTN	179212739	1.000000	0.71417	0.996000	0.52242	0.921000	0.55340	6.429000	0.73387	2.646000	0.89796	0.551000	0.68910	CCT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	32	1	0	7.48243e-07	1	8.90487e-07	9	32				
XRCC4	7518	broad.mit.edu	37	5	82648965	82648965	+	Silent	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:82648965A>C	ENST00000511817.1	+	8	995	c.915A>C	c.(913-915)ctA>ctC	p.L305L	XRCC4_ENST00000338635.6_Silent_p.L305L|XRCC4_ENST00000282268.3_Silent_p.L303L|XRCC4_ENST00000396027.4_Silent_p.L303L			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	305					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		ATTCTTCACTACCTGAGACGT	0.343								Non-homologous end-joining																														ENST00000282268.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17						c.(907-909)ctA>ctC	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 4							103.0	113.0	109.0					5																	82648965		2203	4299	6502	SO:0001819	synonymous_variant	7518				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding	g.chr5:82648965A>C	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.915A>C	5.37:g.82648965A>C						XRCC4_ENST00000396027.4_Silent_p.L303L|XRCC4_ENST00000338635.6_Silent_p.L305L|XRCC4_ENST00000511817.1_Silent_p.L305L	p.L303L	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)	8	1084	+		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)	305					A8K3X4|Q9BS72|Q9UP94	Silent	SNP	ENST00000511817.1	37	c.909A>C	CCDS4059.1																																																																																				0.343	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		16	101	0	0	0	1	0	16	101				
MYO1B	4430	broad.mit.edu	37	2	192250719	192250719	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:192250719A>G	ENST00000392318.3	+	16	1710	c.1463A>G	c.(1462-1464)cAt>cGt	p.H488R	MYO1B_ENST00000304164.4_Missense_Mutation_p.H488R|MYO1B_ENST00000392316.1_Missense_Mutation_p.H488R|MYO1B_ENST00000339514.4_Missense_Mutation_p.H488R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	488	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACCCACCAGCATTTTGAGAGC	0.522																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1462-1464)cAt>cGt		myosin IB							237.0	217.0	224.0					2																	192250719		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192250719A>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1463A>G	2.37:g.192250719A>G	ENSP00000376132:p.His488Arg					MYO1B_ENST00000304164.4_Missense_Mutation_p.H488R|MYO1B_ENST00000339514.4_Missense_Mutation_p.H488R|MYO1B_ENST00000392316.1_Missense_Mutation_p.H488R	p.H488R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		16	1710	+			488			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.1463A>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454270	0.63290	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.33	5.33	0.75918	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	L	0.31845	0.965	0.80722	D	1	B;B;B	0.24092	0.097;0.097;0.02	B;B;B	0.33254	0.16;0.16;0.043	T	0.79405	-0.1817	10	0.32370	T	0.25	.	15.5993	0.76611	1.0:0.0:0.0:0.0	.	488;488;488	B0I1S9;O43795;O43795-2	.;MYO1B_HUMAN;.	R	488	ENSP00000341903:H488R;ENSP00000376132:H488R;ENSP00000306382:H488R;ENSP00000376130:H488R	ENSP00000306382:H488R	H	+	2	0	MYO1B	191958964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.287000	0.95975	2.148000	0.66965	0.472000	0.43445	CAT		0.522	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		49	192	0	0	0	1	0	49	192				
DLG3	1741	broad.mit.edu	37	X	69670069	69670069	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:69670069G>A	ENST00000374360.3	+	5	987	c.754G>A	c.(754-756)Gac>Aac	p.D252N	DLG3-AS1_ENST00000431103.1_RNA|RNU4-81P_ENST00000363561.1_RNA|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000194900.4_Missense_Mutation_p.D270N|DLG3_ENST00000374355.3_5'Flank	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	252	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CATCCCAGGAGACAACAGCAT	0.582																																						ENST00000194900.4																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(808-810)Gac>Aac		discs, large homolog 3 (Drosophila)							53.0	41.0	45.0					X																	69670069		2203	4299	6502	SO:0001583	missense	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69670069G>A	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.754G>A	X.37:g.69670069G>A	ENSP00000363480:p.Asp252Asn					DLG3_ENST00000374360.3_Missense_Mutation_p.D252N	p.D270N			Q92796	DLG3_HUMAN			6	1149	+	Renal(35;0.156)		252			PDZ 2.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	ENST00000374360.3	37	c.808G>A	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587750	0.86851	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.41065	1.01;1.01	4.48	4.48	0.54585	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.91635	0.999	T	0.64956	-0.6285	9	.	.	.	.	15.3401	0.74290	0.0:0.0:1.0:0.0	.	252	Q92796	DLG3_HUMAN	N	270;252	ENSP00000194900:D270N;ENSP00000363480:D252N	.	D	+	1	0	DLG3	69586794	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.143000	0.94623	2.067000	0.61834	0.436000	0.28706	GAC		0.582	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		4	13	0	0	0	1	0	4	13				
ATP10B	23120	broad.mit.edu	37	5	160044982	160044982	+	Splice_Site	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:160044982T>G	ENST00000327245.5	-	16	3263		c.e16-2		CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B						phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCAGGTACTGTCAAATAGC	0.458																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.e16-2		ATPase, class V, type 10B							107.0	100.0	102.0					5																	160044982		1850	4091	5941	SO:0001630	splice_region_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160044982T>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2417-2A>C	5.37:g.160044982T>G						CTC-348L5.1_ENST00000523598.1_RNA		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		16	3263	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)						Q9H725	Splice_Site	SNP	ENST00000327245.5	37		CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.398950	0.25291	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8526	0.57867	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP10B	159977560	1.000000	0.71417	0.993000	0.49108	0.082000	0.17680	5.376000	0.66178	2.035000	0.60131	0.524000	0.50904	.		0.458	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	Intron	6	48	0	0	0	1	0	6	48				
TMTC1	83857	broad.mit.edu	37	12	29670487	29670487	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:29670487T>A	ENST00000539277.1	-	14	2100	c.2042A>T	c.(2041-2043)cAc>cTc	p.H681L	TMTC1_ENST00000552618.1_Missense_Mutation_p.H705L|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Missense_Mutation_p.H573L|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000551659.1_Missense_Mutation_p.H743L	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	681						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTCAGCTTTGTGTGCCACCTG	0.453																																						ENST00000256062.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1717-1719)cAc>cTc		transmembrane and tetratricopeptide repeat containing 1							134.0	124.0	128.0					12																	29670487		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29670487T>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2042A>T	12.37:g.29670487T>A	ENSP00000442046:p.His681Leu					TMTC1_ENST00000539277.1_Missense_Mutation_p.H681L|TMTC1_ENST00000552618.1_Missense_Mutation_p.H705L|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.H743L	p.H573L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN			14	2191	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		681					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1718A>T	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089100	0.36855	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.59224	0.28;0.28;0.71;0.28	5.63	-0.863	0.10669	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.402267	0.25860	N	0.027828	T	0.31796	0.0808	N	0.14661	0.345	0.29281	N	0.870013	B;B;B	0.14805	0.0;0.011;0.0	B;B;B	0.13407	0.0;0.009;0.0	T	0.17319	-1.0373	9	.	.	.	-13.4628	7.8397	0.29391	0.0:0.5789:0.1195:0.3017	.	681;743;26	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	L	444;573;743;705;681	ENSP00000256062:H573L;ENSP00000448112:H743L;ENSP00000449043:H705L;ENSP00000442046:H681L	.	H	-	2	0	TMTC1	29561754	0.850000	0.29656	0.273000	0.24645	0.979000	0.70002	0.779000	0.26746	0.164000	0.19529	-0.263000	0.10527	CAC		0.453	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		17	79	0	0	0	1	0	17	79				
TTN	7273	broad.mit.edu	37	2	179592942	179592942	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179592942A>T	ENST00000591111.1	-	65	18882	c.18658T>A	c.(18658-18660)Tct>Act	p.S6220T	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S6537T|TTN_ENST00000342992.6_Missense_Mutation_p.S5293T|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13000	Ig-like 43.				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)			ACTTCCAGAGACACAGATCTC	0.398																																						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.(19609-19611)Tct>Act		titin							70.0	67.0	68.0					2																	179592942		1887	4122	6009	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179592942A>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.18658T>A	2.37:g.179592942A>T	ENSP00000465570:p.Ser6220Thr					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5293T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6220T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.S6537T	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)		67	19833	-			6220			Ig-like 47.		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.19609T>A		.	.	.	.	.	.	.	.	.	.	A	9.191	1.026042	0.19512	.	.	ENSG00000155657	ENST00000342992	T	0.64438	-0.1	5.78	3.25	0.37280	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46347	0.1388	N	0.13168	0.305	0.80722	D	1	B	0.15473	0.013	B	0.21708	0.036	T	0.46498	-0.9187	9	0.87932	D	0	.	12.6712	0.56868	0.7149:0.2851:0.0:0.0	.	6220	Q8WZ42	TITIN_HUMAN	T	5293	ENSP00000343764:S5293T	ENSP00000343764:S5293T	S	-	1	0	TTN	179301187	1.000000	0.71417	0.911000	0.35937	0.776000	0.43924	4.973000	0.63763	1.105000	0.41606	0.482000	0.46254	TCT		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	20	0	0	0	1	0	4	20				
KRT81	3887	broad.mit.edu	37	12	52685169	52685169	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:52685169G>A	ENST00000327741.5	-	1	149	c.81C>T	c.(79-81)atC>atT	p.I27I	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	27	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCGGCGGTGATGCAGCAGC	0.711																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(79-81)atC>atT		keratin 81							9.0	13.0	11.0					12																	52685169		2151	4168	6319	SO:0001819	synonymous_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52685169G>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.81C>T	12.37:g.52685169G>A						KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	p.I27I	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	149	-			27			Head.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	c.81C>T	CCDS31805.1																																																																																				0.711	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		9	16	0	0	0	1	0	9	16				
LRRC30	339291	broad.mit.edu	37	18	7231139	7231139	+	Start_Codon_SNP	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:7231139G>A	ENST00000383467.2	+	1	17	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	1										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AAGGTACAATGGGGGCCAGGC	0.602																																						ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1-3)atG>atA		leucine rich repeat containing 30							50.0	55.0	53.0					18																	7231139		2016	4165	6181	SO:0001582	initiator_codon_variant	339291							g.chr18:7231139G>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.3G>A	18.37:g.7231139G>A	ENSP00000372959:p.Met1Ile						p.M1I	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	17	+			1						Translation_Start_Site	SNP	ENST00000383467.2	37	c.3G>A	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516636	0.44763	.	.	ENSG00000206422	ENST00000383467	T	0.42513	0.97	5.56	5.56	0.83823	.	0.272845	0.41294	D	0.000901	T	0.66713	0.2817	.	.	.	0.53005	D	0.999965	D	0.63880	0.993	D	0.70227	0.968	T	0.69450	-0.5142	9	0.87932	D	0	.	18.07	0.89403	0.0:0.0:1.0:0.0	.	1	A6NM36	LRC30_HUMAN	I	1	ENSP00000372959:M1I	ENSP00000372959:M1I	M	+	3	0	LRRC30	7221139	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	4.661000	0.61518	2.775000	0.95449	0.655000	0.94253	ATG		0.602	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678	Missense_Mutation	13	52	0	0	0	1	0	13	52				
GUCY2C	2984	broad.mit.edu	37	12	14796620	14796620	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:14796620G>T	ENST00000261170.3	-	17	1954	c.1818C>A	c.(1816-1818)tcC>tcA	p.S606S		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CTGTCTTACTGGAGTGCAGAT	0.373																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1816-1818)tcC>tcA		guanylate cyclase 2C (heat stable enterotoxin receptor)							143.0	138.0	140.0					12																	14796620		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14796620G>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1818C>A	12.37:g.14796620G>T							p.S606S	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			17	1954	-			606			Protein kinase.		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.1818C>A	CCDS8664.1																																																																																				0.373	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			15	95	1	0	0.00074312	1	0.0007944	15	95				
CAMTA1	23261	broad.mit.edu	37	1	7797432	7797432	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:7797432C>T	ENST00000303635.7	+	15	3667	c.3460C>T	c.(3460-3462)Cgg>Tgg	p.R1154W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1154W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGCCAGGTCACGGGGTCATGT	0.572			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(3460-3462)Cgg>Tgg		calmodulin binding transcription activator 1							93.0	94.0	94.0					1																	7797432		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7797432C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3460C>T	1.37:g.7797432C>T	ENSP00000306522:p.Arg1154Trp					CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1154W	p.R1154W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	15	3667	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1154					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.3460C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353163	0.61293	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.35048	1.33;1.33	5.91	-2.72	0.05968	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	L	0.53671	1.685	0.41351	D	0.987363	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.995	T	0.62676	-0.6804	10	0.72032	D	0.01	-23.7356	21.101	0.99946	0.2777:0.7223:0.0:0.0	.	1154;241;110;1154	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	W	1154;1154;241;110	ENSP00000306522:R1154W;ENSP00000402561:R1154W	ENSP00000306522:R1154W	R	+	1	2	CAMTA1	7720019	0.006000	0.16342	0.308000	0.25141	0.980000	0.70556	0.216000	0.17585	-0.373000	0.07979	-0.262000	0.10625	CGG		0.572	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		27	96	0	0	0	1	0	27	96				
SETD1A	9739	broad.mit.edu	37	16	30990627	30990627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:30990627G>T	ENST00000262519.8	+	14	4206	c.3520G>T	c.(3520-3522)Gag>Tag	p.E1174*		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1174	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTCTGCCATCGAGGTGGTGCC	0.711																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3520-3522)Gag>Tag		SET domain containing 1A							21.0	26.0	24.0					16																	30990627		2182	4278	6460	SO:0001587	stop_gained	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30990627G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3520G>T	16.37:g.30990627G>T	ENSP00000262519:p.Glu1174*						p.E1174*	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			14	4206	+			1174			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Nonsense_Mutation	SNP	ENST00000262519.8	37	c.3520G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	43	10.434588	0.99404	.	.	ENSG00000099381	ENST00000262519	.	.	.	5.03	5.03	0.67393	.	0.137012	0.47455	D	0.000238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	17.1265	0.86715	0.0:0.0:1.0:0.0	.	.	.	.	X	1174	.	ENSP00000262519:E1174X	E	+	1	0	SETD1A	30898128	0.999000	0.42202	0.934000	0.37439	0.045000	0.14185	3.662000	0.54510	2.328000	0.79073	0.557000	0.71058	GAG		0.711	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		13	39	1	0	0.0202918	1	0.020769	13	39				
VAC14	55697	broad.mit.edu	37	16	70721966	70721966	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:70721966G>C	ENST00000261776.5	-	19	2474	c.2214C>G	c.(2212-2214)tcC>tcG	p.S738S	VAC14_ENST00000571759.1_5'UTR|VAC14_ENST00000536184.2_Silent_p.S170S|MTSS1L_ENST00000338779.6_5'Flank	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	738					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CAGCTTTCTGGGACTTGGGGG	0.597																																						ENST00000261776.5																			0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2212-2214)tcC>tcG		Vac14 homolog (S. cerevisiae)							127.0	115.0	120.0					16																	70721966		2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70721966G>C	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.2214C>G	16.37:g.70721966G>C						VAC14_ENST00000571759.1_5'UTR|VAC14_ENST00000536184.2_Silent_p.S170S	p.S738S	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN			19	2474	-		Ovarian(137;0.0699)	738					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.2214C>G	CCDS10896.1																																																																																				0.597	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		30	148	0	0	0	1	0	30	148				
BBX	56987	broad.mit.edu	37	3	107491516	107491516	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:107491516G>T	ENST00000325805.8	+	11	1235	c.948G>T	c.(946-948)aaG>aaT	p.K316N	BBX_ENST00000415149.2_Missense_Mutation_p.K316N|BBX_ENST00000406780.1_Missense_Mutation_p.K316N|BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.K316N			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	316					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAGAATCAAAGCTAATAAAAG	0.348																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(946-948)aaG>aaT		bobby sox homolog (Drosophila)							40.0	45.0	43.0					3																	107491516		2196	4293	6489	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107491516G>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.948G>T	3.37:g.107491516G>T	ENSP00000319974:p.Lys316Asn					BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.K316N|BBX_ENST00000402543.1_Missense_Mutation_p.K316N|BBX_ENST00000325805.8_Missense_Mutation_p.K316N	p.K316N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1275	+			316					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.948G>T	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163811	0.38217	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000402163;ENST00000406780	D;D;D;D;D	0.98585	-4.54;-4.55;-4.54;-5.01;-4.54	5.87	4.06	0.47325	HMG box transcription factor BBX, domain of unknown function DUF2028 (1);	0.562737	0.19816	N	0.105423	D	0.95736	0.8613	L	0.36672	1.1	0.28723	N	0.902893	P;P;P	0.42161	0.772;0.571;0.675	B;B;B	0.39876	0.312;0.312;0.205	D	0.91849	0.5490	10	0.62326	D	0.03	-4.1819	11.743	0.51804	0.1255:0.0:0.8745:0.0	.	316;316;316	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	N	316;167;316;316;316;316	ENSP00000408358:K316N;ENSP00000385317:K316N;ENSP00000319974:K316N;ENSP00000385518:K316N;ENSP00000385530:K316N	ENSP00000319742:K167N	K	+	3	2	BBX	108974206	0.998000	0.40836	0.989000	0.46669	0.931000	0.56810	0.466000	0.22019	0.799000	0.34018	0.650000	0.86243	AAG		0.348	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		9	32	1	0	3.09899e-07	1	3.73677e-07	9	32				
HEPH	9843	broad.mit.edu	37	X	65474968	65474968	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:65474968A>G	ENST00000343002.2	+	15	3319	c.2655A>G	c.(2653-2655)gcA>gcG	p.A885A	HEPH_ENST00000441993.2_Silent_p.A888A|HEPH_ENST00000519389.1_Silent_p.A939A|HEPH_ENST00000419594.1_Silent_p.A696A|HEPH_ENST00000336279.5_Silent_p.A618A|HEPH_ENST00000374727.3_Silent_p.A888A			Q9BQS7	HEPH_HUMAN	hephaestin	885	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATTATTCTGCAGTGGATCCCA	0.478																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2815-2817)gcA>gcG		hephaestin							119.0	102.0	108.0					X																	65474968		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65474968A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2655A>G	X.37:g.65474968A>G						HEPH_ENST00000374727.3_Silent_p.A888A|HEPH_ENST00000336279.5_Silent_p.A618A|HEPH_ENST00000441993.2_Silent_p.A888A|HEPH_ENST00000419594.1_Silent_p.A696A|HEPH_ENST00000343002.2_Silent_p.A885A	p.A939A			Q9BQS7	HEPH_HUMAN			16	2996	+			885			Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.2817A>G																																																																																					0.478	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		14	27	0	0	0	1	0	14	27				
UBR1	197131	broad.mit.edu	37	15	43252873	43252873	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:43252873T>G	ENST00000290650.4	-	43	4805	c.4727A>C	c.(4726-4728)aAc>aCc	p.N1576T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1576					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTTCAAACAGTTTAGTAAGGC	0.398																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(4726-4728)aAc>aCc		ubiquitin protein ligase E3 component n-recognin 1							124.0	102.0	109.0					15																	43252873		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43252873T>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4727A>C	15.37:g.43252873T>G	ENSP00000290650:p.Asn1576Thr					UBR1_ENST00000382177.2_3'UTR	p.N1576T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	43	4805	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1576					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.4727A>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292175	0.23564	.	.	ENSG00000159459	ENST00000290650	T	0.50813	0.73	4.99	0.141	0.14811	.	0.360585	0.34338	N	0.004047	T	0.27241	0.0668	L	0.34521	1.04	0.22835	N	0.998676	B	0.12630	0.006	B	0.14023	0.01	T	0.10613	-1.0622	10	0.17369	T	0.5	-18.6536	4.0539	0.09808	0.0:0.3759:0.1976:0.4265	.	1576	Q8IWV7	UBR1_HUMAN	T	1576	ENSP00000290650:N1576T	ENSP00000290650:N1576T	N	-	2	0	UBR1	41040165	0.008000	0.16893	0.157000	0.22605	0.723000	0.41478	0.140000	0.16056	0.126000	0.18424	0.533000	0.62120	AAC		0.398	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		9	23	0	0	0	1	0	9	23				
ZNF536	9745	broad.mit.edu	37	19	30935177	30935177	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:30935177C>T	ENST00000355537.3	+	2	855	c.708C>T	c.(706-708)gcC>gcT	p.A236A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	236					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGCTGGCCGCCTGCACCC	0.746																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(706-708)gcC>gcT		zinc finger protein 536																																				SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935177C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.708C>T	19.37:g.30935177C>T							p.A236A	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	855	+	Esophageal squamous(110;0.0834)		236					A2RU18	Silent	SNP	ENST00000355537.3	37	c.708C>T	CCDS32984.1																																																																																				0.746	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	10	0	0	0	1	0	7	10				
GAS2L3	283431	broad.mit.edu	37	12	101012318	101012318	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:101012318A>G	ENST00000539410.1	+	7	987	c.601A>G	c.(601-603)Atc>Gtc	p.I201V	GAS2L3_ENST00000537247.1_Missense_Mutation_p.I97V|GAS2L3_ENST00000547754.1_Missense_Mutation_p.I201V|GAS2L3_ENST00000266754.5_Missense_Mutation_p.I201V			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	201					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAAGATTCCATCAGCATTCC	0.408																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(289-291)Atc>Gtc		growth arrest-specific 2 like 3							127.0	128.0	128.0					12																	101012318		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101012318A>G	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.601A>G	12.37:g.101012318A>G	ENSP00000439672:p.Ile201Val					GAS2L3_ENST00000266754.5_Missense_Mutation_p.I201V|GAS2L3_ENST00000539410.1_Missense_Mutation_p.I201V|GAS2L3_ENST00000547754.1_Missense_Mutation_p.I201V	p.I97V			Q86XJ1	GA2L3_HUMAN			8	1243	+			201			CH.		B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.289A>G	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	A	2.667	-0.278369	0.05679	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.21734	2.0;2.0;1.99;2.0	5.27	4.11	0.48088	Calponin homology domain (1);	0.543896	0.19729	N	0.107390	T	0.08313	0.0207	N	0.04880	-0.145	0.22457	N	0.999086	B	0.14805	0.011	B	0.10450	0.005	T	0.31943	-0.9925	10	0.14656	T	0.56	-11.7587	5.7304	0.18036	0.6949:0.1629:0.1422:0.0	.	201	Q86XJ1	GA2L3_HUMAN	V	201;201;97;201	ENSP00000266754:I201V;ENSP00000448955:I201V;ENSP00000442406:I97V;ENSP00000439672:I201V	ENSP00000266754:I201V	I	+	1	0	GAS2L3	99536449	0.886000	0.30341	1.000000	0.80357	0.702000	0.40608	0.729000	0.26028	2.114000	0.64651	0.397000	0.26171	ATC		0.408	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		6	45	0	0	0	1	0	6	45				
CCDC108	255101	broad.mit.edu	37	2	219892418	219892418	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:219892418G>A	ENST00000341552.5	-	13	2248	c.2165C>T	c.(2164-2166)cCc>cTc	p.P722L	CCDC108_ENST00000410037.1_Missense_Mutation_p.P657L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P722L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P722L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P711L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	722						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCAGTTGGGGTGAGGCGG	0.607																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2164-2166)cCc>cTc		coiled-coil domain containing 108							81.0	83.0	82.0					2																	219892418		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219892418G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2165C>T	2.37:g.219892418G>A	ENSP00000340776:p.Pro722Leu					CCDC108_ENST00000410037.1_Missense_Mutation_p.P657L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P711L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P722L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P722L	p.P722L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	2248	-		Renal(207;0.0915)	722					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2165C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339744	0.41398	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000545086;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.07216	3.47;3.47;3.47;3.21;3.22	5.18	4.27	0.50696	.	0.311922	0.23386	N	0.048752	T	0.08313	0.0207	L	0.55103	1.725	0.80722	D	1	B;B;P	0.35656	0.214;0.214;0.514	B;B;B	0.34652	0.068;0.068;0.187	T	0.25641	-1.0126	10	0.23302	T	0.38	-14.7282	7.0985	0.25323	0.1146:0.1759:0.7095:0.0	.	711;656;722	E9PG25;B4DYZ8;Q6ZU64	.;.;CC108_HUMAN	L	722;722;722;198;711;657;656	ENSP00000340776:P722L;ENSP00000413377:P722L;ENSP00000409117:P722L;ENSP00000386945:P711L;ENSP00000386258:P657L	ENSP00000340776:P722L	P	-	2	0	CCDC108	219600662	1.000000	0.71417	0.404000	0.26397	0.957000	0.61999	2.145000	0.42207	1.358000	0.45922	0.655000	0.94253	CCC		0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		33	121	0	0	0	1	0	33	121				
DSCAM	1826	broad.mit.edu	37	21	41559089	41559089	+	Silent	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:41559089T>A	ENST00000400454.1	-	14	3225	c.2748A>T	c.(2746-2748)acA>acT	p.T916T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	916	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TATCGTAGCCTGTGATGGGAC	0.433																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2746-2748)acA>acT		Down syndrome cell adhesion molecule							178.0	184.0	182.0					21																	41559089		1933	4136	6069	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41559089T>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2748A>T	21.37:g.41559089T>A							p.T916T	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			14	3225	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	916			Fibronectin type-III 1.		O60468	Silent	SNP	ENST00000400454.1	37	c.2748A>T	CCDS42929.1																																																																																				0.433	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		6	36	0	0	0	1	0	6	36				
TENM1	10178	broad.mit.edu	37	X	124097570	124097570	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:124097570A>T	ENST00000371130.3	-	1	96	c.33T>A	c.(31-33)ccT>ccA	p.P11P	TENM1_ENST00000422452.2_Silent_p.P11P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	11	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTTTTGGTAGAGGCTGGTAGG	0.433																																						ENST00000422452.2																			0											c.(31-33)ccT>ccA		teneurin transmembrane protein 1							218.0	195.0	203.0					X																	124097570		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:124097570A>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.33T>A	X.37:g.124097570A>T						TENM1_ENST00000371130.3_Silent_p.P11P	p.P11P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					1	96	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.33T>A	CCDS14609.1																																																																																				0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		38	94	0	0	0	1	0	38	94				
PRKAA2	5563	broad.mit.edu	37	1	57158157	57158157	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:57158157G>T	ENST00000371244.4	+	4	523	c.457G>T	c.(457-459)Gcc>Tcc	p.A153S		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ACACATGAATGCCAAGATAGC	0.408																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(457-459)Gcc>Tcc		protein kinase, AMP-activated, alpha 2 catalytic subunit							156.0	148.0	151.0					1																	57158157		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57158157G>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.457G>T	1.37:g.57158157G>T	ENSP00000360290:p.Ala153Ser						p.A153S	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			4	523	+			153			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.457G>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381832	0.82792	.	.	ENSG00000162409	ENST00000371244	T	0.26373	1.74	5.71	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	L	0.46741	1.465	0.58432	D	0.999999	B	0.31174	0.311	P	0.44921	0.464	T	0.26538	-1.0100	10	0.66056	D	0.02	-10.6548	14.6537	0.68817	0.0696:0.0:0.9304:0.0	.	153	P54646	AAPK2_HUMAN	S	153	ENSP00000360290:A153S	ENSP00000360290:A153S	A	+	1	0	PRKAA2	56930745	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.476000	0.97823	1.423000	0.47198	0.585000	0.79938	GCC		0.408	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		20	103	1	0	8.34094e-07	1	9.86237e-07	20	103				
SOX6	55553	broad.mit.edu	37	11	16077304	16077304	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:16077304T>C	ENST00000352083.6	-	10	1322	c.1245A>G	c.(1243-1245)caA>caG	p.Q415Q	SOX6_ENST00000527619.1_Silent_p.Q377Q|SOX6_ENST00000528429.1_Silent_p.Q415Q|SOX6_ENST00000528252.1_Silent_p.Q374Q|SOX6_ENST00000396356.3_Silent_p.Q415Q|SOX6_ENST00000316399.6_Silent_p.Q415Q			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	415					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GTACCTTAACTTGAGTTACAG	0.453																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1243-1245)caA>caG		SRY (sex determining region Y)-box 6							183.0	153.0	163.0					11																	16077304		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16077304T>C	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1245A>G	11.37:g.16077304T>C						SOX6_ENST00000527619.1_Silent_p.Q377Q|SOX6_ENST00000528252.1_Silent_p.Q374Q|SOX6_ENST00000528429.1_Silent_p.Q415Q|SOX6_ENST00000316399.6_Silent_p.Q415Q|SOX6_ENST00000396356.3_Silent_p.Q415Q	p.Q415Q			P35712	SOX6_HUMAN			10	1322	-			415					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.1245A>G																																																																																					0.453	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		12	42	0	0	0	1	0	12	42				
ZSCAN10	84891	broad.mit.edu	37	16	3140535	3140535	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:3140535C>A	ENST00000252463.2	-	5	822	c.735G>T	c.(733-735)ccG>ccT	p.P245P	ZSCAN10_ENST00000538082.2_Silent_p.P163P|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	245					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(733-735)ccG>ccT		zinc finger and SCAN domain containing 10							41.0	46.0	44.0					16																	3140535		2196	4296	6492	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140535C>A	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.735G>T	16.37:g.3140535C>A						ZSCAN10_ENST00000538082.2_Silent_p.P163P|ZSCAN10_ENST00000575108.1_5'UTR	p.P245P	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	822	-			245					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.735G>T	CCDS10493.1																																																																																				0.602	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		22	89	1	0	2.44723e-14	1	3.59032e-14	22	89				
C12orf57	113246	broad.mit.edu	37	12	7053829	7053829	+	Intron	SNP	G	G	T	rs199730337|rs376817694		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:7053829G>T	ENST00000229281.5	+	2	328				RNU7-1_ENST00000458811.1_RNA|C12orf57_ENST00000537087.1_Intron|C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000540506.2_Intron|PTPN6_ENST00000399448.1_5'Flank|PTPN6_ENST00000447931.2_5'Flank|C12orf57_ENST00000544681.1_Silent_p.A81A|U47924.31_ENST00000607421.1_RNA	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57							cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)	2						GGTCAGACGCGGGAAGGCGGG	0.652											OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000544681.1																			0				kidney(1)|large_intestine(1)	2						c.(241-243)gcG>gcT		chromosome 12 open reading frame 57							37.0	37.0	37.0					12																	7053829		2203	4300	6503	SO:0001627	intron_variant	113246							g.chr12:7053829G>T	U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.229+14G>T	12.37:g.7053829G>T			OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000229281.5_Intron|C12orf57_ENST00000537087.1_Intron|C12orf57_ENST00000540506.2_Intron	p.A81A			Q99622	C10_HUMAN			2	548	+			81					B2R4Q6	Silent	SNP	ENST00000229281.5	37	c.243G>T	CCDS8571.1																																																																																				0.652	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1	NM_138425		9	61	1	0	0.000673444	1	0.000720759	9	61				
TBC1D3P5	440419	broad.mit.edu	37	17	25752524	25752524	+	RNA	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:25752524C>G	ENST00000586223.1	+	0	1359					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		AATGGCGGGACAGTTCAGGGG	0.552																																						ENST00000586223.1																			0																																																			440419							g.chr17:25752524C>G			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25752524C>G								NR_033892.1						0	1359	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.552	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		13	90	0	0	0	1	0	13	90				
KIAA0100	9703	broad.mit.edu	37	17	26943725	26943725	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:26943725T>C	ENST00000528896.2	-	35	6142	c.6068A>G	c.(6067-6069)cAc>cGc	p.H2023R	SGK494_ENST00000469832.3_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.H1880R|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.H1880R|KIAA0100_ENST00000579924.2_5'UTR|SGK494_ENST00000301037.5_5'Flank|RP11-192H23.4_ENST00000534850.1_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2023						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CATCATTCTGTGGAAGAACTG	0.423																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(6067-6069)cAc>cGc		KIAA0100							104.0	103.0	103.0					17																	26943725		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26943725T>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6068A>G	17.37:g.26943725T>C	ENSP00000436773:p.His2023Arg					SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.H1880R|KIAA0100_ENST00000544884.1_Missense_Mutation_p.H1880R|KIAA0100_ENST00000579924.2_5'UTR	p.H2023R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			35	6142	-	Lung NSC(42;0.00431)		2023					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.6068A>G	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124410	0.37533	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.39056	1.1;1.1	5.87	5.87	0.94306	FMP27,  C-terminal (1);	0.085098	0.85682	D	0.000000	T	0.25195	0.0612	N	0.04508	-0.205	0.48511	D	0.999666	P	0.45176	0.852	B	0.42462	0.388	T	0.12889	-1.0530	10	0.18276	T	0.48	.	16.2588	0.82530	0.0:0.0:0.0:1.0	.	2023	Q14667	K0100_HUMAN	R	2023;1993;2023;1880	ENSP00000436773:H2023R;ENSP00000446443:H1880R	ENSP00000005905:H2023R	H	-	2	0	KIAA0100	23967852	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.634000	0.83273	2.243000	0.73865	0.459000	0.35465	CAC		0.423	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		21	65	0	0	0	1	0	21	65				
NAV2	89797	broad.mit.edu	37	11	20070386	20070386	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:20070386G>T	ENST00000396087.3	+	16	4183	c.4084G>T	c.(4084-4086)Gac>Tac	p.D1362Y	NAV2_ENST00000360655.4_Missense_Mutation_p.D1275Y|NAV2_ENST00000311043.8_Missense_Mutation_p.D425Y|NAV2_ENST00000533917.1_Missense_Mutation_p.D425Y|NAV2_ENST00000527559.2_Missense_Mutation_p.D1291Y|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.D1293Y|NAV2_ENST00000349880.4_Missense_Mutation_p.D1339Y|NAV2_ENST00000396085.1_Missense_Mutation_p.D1339Y	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1362					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGTAACCTAGACTCCCCGTC	0.557																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(4015-4017)Gac>Tac		neuron navigator 2							144.0	120.0	128.0					11																	20070386		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20070386G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4084G>T	11.37:g.20070386G>T	ENSP00000379396:p.Asp1362Tyr					NAV2_ENST00000349880.4_Missense_Mutation_p.D1339Y|NAV2_ENST00000311043.8_Missense_Mutation_p.D425Y|NAV2_ENST00000527559.2_Missense_Mutation_p.D1291Y|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.D1293Y|NAV2_ENST00000360655.4_Missense_Mutation_p.D1275Y|NAV2_ENST00000396087.3_Missense_Mutation_p.D1362Y|NAV2_ENST00000533917.1_Missense_Mutation_p.D425Y	p.D1339Y	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			15	4376	+			1362					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.4015G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815497	0.90790	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.33865	1.39;1.5;1.5;1.56;1.46;1.46;2.99;1.64;2.99	5.87	5.87	0.94306	.	0.243172	0.35585	N	0.003107	T	0.49626	0.1568	L	0.48642	1.525	0.80722	D	1	P;D;P;D;P;P	0.65815	0.885;0.995;0.946;0.978;0.93;0.946	P;P;P;P;P;P	0.55577	0.571;0.779;0.714;0.714;0.667;0.667	T	0.17531	-1.0366	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1339;1362;425;425;1339;1275	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	Y	1275;1339;1339;1362;1291;1293;425;425;425;425	ENSP00000353871:D1275Y;ENSP00000379394:D1339Y;ENSP00000309577:D1339Y;ENSP00000379396:D1362Y;ENSP00000435395:D1291Y;ENSP00000443489:D1293Y;ENSP00000437316:D425Y;ENSP00000437136:D425Y;ENSP00000312169:D425Y	.	D	+	1	0	NAV2	20026962	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	9.257000	0.95545	2.941000	0.99782	0.655000	0.94253	GAC		0.557	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		33	96	1	0	1.56442e-22	1	2.5488e-22	33	96				
BAI3	577	broad.mit.edu	37	6	70048838	70048838	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:70048838G>C	ENST00000370598.1	+	25	4040	c.3219G>C	c.(3217-3219)acG>acC	p.T1073T	BAI3_ENST00000546190.1_Silent_p.T37T|BAI3_ENST00000238918.8_Silent_p.T279T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1073					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCGGTTTGACGCTCAAATGTG	0.418																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3217-3219)acG>acC		brain-specific angiogenesis inhibitor 3							225.0	220.0	222.0					6																	70048838		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70048838G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3219G>C	6.37:g.70048838G>C						BAI3_ENST00000238918.8_Silent_p.T279T|BAI3_ENST00000546190.1_Silent_p.T37T	p.T1073T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			25	4040	+		all_lung(197;0.212)	1073					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.3219G>C	CCDS4968.1																																																																																				0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			46	139	0	0	0	1	0	46	139				
ANKH	56172	broad.mit.edu	37	5	14758587	14758587	+	Splice_Site	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:14758587A>T	ENST00000284268.6	-	3	763		c.e3+1		ANKH_ENST00000503939.1_5'Flank	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator						locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTCTACTCACCATTGCGTC	0.413																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.e3+1		ANKH inorganic pyrophosphate transport regulator							103.0	94.0	97.0					5																	14758587		2203	4300	6503	SO:0001630	splice_region_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14758587A>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.432+1T>A	5.37:g.14758587A>T								NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			3	763	-								B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Splice_Site	SNP	ENST00000284268.6	37		CCDS3885.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801644	0.90538	.	.	ENSG00000154122	ENST00000284268	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8052	0.69948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKH	14811587	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.265000	0.95647	2.093000	0.63338	0.460000	0.39030	.		0.413	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027	Intron	4	61	0	0	0	1	0	4	61				
PHF14	9678	broad.mit.edu	37	7	11068350	11068350	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:11068350G>T	ENST00000403050.3	+	7	1812	c.1360G>T	c.(1360-1362)Gtt>Ttt	p.V454F	PHF14_ENST00000445996.2_Missense_Mutation_p.V169F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	454					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAGAACTGGGGTTTGCATTAG	0.463																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1360-1362)Gtt>Ttt		PHD finger protein 14							131.0	122.0	125.0					7																	11068350		1939	4158	6097	SO:0001583	missense	9678						zinc ion binding	g.chr7:11068350G>T	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1360G>T	7.37:g.11068350G>T	ENSP00000385795:p.Val454Phe					PHF14_ENST00000445996.2_Missense_Mutation_p.V169F	p.V454F	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	7	1812	+			454					A7MCZ3|B4DI82	Missense_Mutation	SNP	ENST00000403050.3	37	c.1360G>T	CCDS47542.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308159	0.95629	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	T;T	0.14640	2.49;2.49	5.31	5.31	0.75309	Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	M	0.86268	2.805	0.80722	D	1	D;D;D;D	0.76494	0.994;0.996;0.999;0.997	D;D;D;D	0.87578	0.986;0.988;0.998;0.958	T	0.50030	-0.8875	10	0.87932	D	0	.	19.3605	0.94436	0.0:0.0:1.0:0.0	.	169;169;454;454	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	F	454;169	ENSP00000385795:V454F;ENSP00000403907:V169F	ENSP00000385795:V454F	V	+	1	0	PHF14	11034875	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.752000	0.98900	2.630000	0.89119	0.650000	0.86243	GTT		0.463	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		13	29	1	0	0.00185496	1	0.00196004	13	29				
TRIM42	287015	broad.mit.edu	37	3	140406653	140406653	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:140406653A>G	ENST00000286349.3	+	3	1320	c.1129A>G	c.(1129-1131)Aga>Gga	p.R377G		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	377						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAAAGAGATCAGAAATGGCTT	0.388																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1129-1131)Aga>Gga		tripartite motif containing 42							69.0	68.0	69.0					3																	140406653		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406653A>G	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1129A>G	3.37:g.140406653A>G	ENSP00000286349:p.Arg377Gly						p.R377G	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1320	+			377					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1129A>G	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048486	0.55110	.	.	ENSG00000155890	ENST00000286349	T	0.39229	1.09	5.63	-8.72	0.00845	.	0.000000	0.56097	D	0.000030	T	0.45357	0.1338	N	0.24115	0.695	0.23287	N	0.997978	D	0.76494	0.999	D	0.75484	0.986	T	0.57394	-0.7819	10	0.36615	T	0.2	-15.9835	23.3697	0.99982	0.1355:0.8645:0.0:0.0	.	377	Q8IWZ5	TRI42_HUMAN	G	377	ENSP00000286349:R377G	ENSP00000286349:R377G	R	+	1	2	TRIM42	141889343	0.916000	0.31088	0.317000	0.25265	0.773000	0.43773	0.025000	0.13577	-1.038000	0.03279	-0.478000	0.04885	AGA		0.388	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		9	61	0	0	0	1	0	9	61				
NR1H3	10062	broad.mit.edu	37	11	47283484	47283484	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:47283484G>A	ENST00000467728.1	+	6	2141	c.903G>A	c.(901-903)gaG>gaA	p.E301E	NR1H3_ENST00000527949.1_Silent_p.E150E|NR1H3_ENST00000481889.2_Silent_p.E320E|NR1H3_ENST00000441012.2_Silent_p.E301E|NR1H3_ENST00000395397.3_Silent_p.E256E|NR1H3_ENST00000405853.3_Silent_p.E241E|NR1H3_ENST00000407404.1_Silent_p.E241E|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Silent_p.E196E			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	301	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|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 transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGCTTCTGGAGACATCTCGGA	0.527																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(901-903)gaG>gaA		nuclear receptor subfamily 1, group H, member 3							228.0	209.0	216.0					11																	47283484		2201	4298	6499	SO:0001819	synonymous_variant	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47283484G>A	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.903G>A	11.37:g.47283484G>A						NR1H3_ENST00000527949.1_Silent_p.E150E|NR1H3_ENST00000407404.1_Silent_p.E241E|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Silent_p.E241E|NR1H3_ENST00000481889.2_Silent_p.E320E|NR1H3_ENST00000395397.3_Silent_p.E256E|NR1H3_ENST00000441012.2_Silent_p.E301E|NR1H3_ENST00000405576.1_Silent_p.E196E	p.E301E			Q13133	NR1H3_HUMAN			6	2141	+			301			Ligand-binding (Potential).		A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	ENST00000467728.1	37	c.903G>A	CCDS7929.1																																																																																				0.527	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			37	149	0	0	0	1	0	37	149				
KCNN2	3781	broad.mit.edu	37	5	113798753	113798753	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:113798753G>T	ENST00000512097.3	+	5	2027	c.1009G>T	c.(1009-1011)Gat>Tat	p.D337Y	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_5'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.D337Y			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	337					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CAGGTACCATGATCAACAGGA	0.363																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1009-1011)Gat>Tat		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							273.0	248.0	256.0					5																	113798753		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113798753G>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1009G>T	5.37:g.113798753G>T	ENSP00000427120:p.Asp337Tyr					KCNN2_ENST00000503706.1_5'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.D337Y|KCNN2_ENST00000507750.1_3'UTR	p.D337Y			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	5	2027	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	337					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1009G>T	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734586	0.69189	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	T;T	0.24723	1.84;1.84	5.63	5.63	0.86233	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.69358	2.11	0.80722	D	1	P	0.36587	0.559	P	0.48089	0.566	T	0.35574	-0.9783	10	0.87932	D	0	-3.7168	19.2915	0.94102	0.0:0.0:1.0:0.0	.	337	Q9H2S1	KCNN2_HUMAN	Y	337	ENSP00000427120:D337Y;ENSP00000264773:D337Y	ENSP00000264773:D337Y	D	+	1	0	KCNN2	113826652	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.695000	0.98691	2.658000	0.90341	0.561000	0.74099	GAT		0.363	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		32	91	1	0	1.56738e-10	1	2.07283e-10	32	91				
RSPH14	27156	broad.mit.edu	37	22	23404068	23404068	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:23404068C>A	ENST00000216036.4	-	6	905	c.709G>T	c.(709-711)Gtc>Ttc	p.V237F		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		237										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AGCAGATGGACCAGGATGGGG	0.572																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(709-711)Gtc>Ttc		rhabdoid tumor deletion region gene 1							108.0	78.0	88.0					22																	23404068		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23404068C>A																												ENST00000216036.4:c.709G>T	22.37:g.23404068C>A	ENSP00000216036:p.Val237Phe						p.V237F	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	6	905	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		237						Missense_Mutation	SNP	ENST00000216036.4	37	c.709G>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872870	0.51695	.	.	ENSG00000100218	ENST00000216036	T	0.52526	0.66	4.77	4.77	0.60923	Armadillo-like helical (1);Armadillo-type fold (1);	0.324876	0.27966	N	0.017128	T	0.71617	0.3361	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76924	-0.2779	10	0.72032	D	0.01	-36.7685	13.6483	0.62294	0.0:1.0:0.0:0.0	.	237	Q9UHP6	RTDR1_HUMAN	F	237	ENSP00000216036:V237F	ENSP00000216036:V237F	V	-	1	0	RTDR1	21734068	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	5.055000	0.64282	2.389000	0.81357	0.462000	0.41574	GTC		0.572	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			13	51	1	0	9.31168e-06	1	1.05988e-05	13	51				
MS4A14	84689	broad.mit.edu	37	11	60183199	60183199	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:60183199C>G	ENST00000300187.6	+	5	1035	c.758C>G	c.(757-759)cCc>cGc	p.P253R	MS4A14_ENST00000395005.2_Missense_Mutation_p.P236R|MS4A14_ENST00000531787.1_Missense_Mutation_p.P141R|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.P286R	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	253						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTTTGCCTCCCACACTAGAG	0.373																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(757-759)cCc>cGc		membrane-spanning 4-domains, subfamily A, member 14							59.0	59.0	59.0					11																	60183199		2203	4299	6502	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183199C>G	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.758C>G	11.37:g.60183199C>G	ENSP00000300187:p.Pro253Arg					MS4A14_ENST00000395005.2_Missense_Mutation_p.P236R|MS4A14_ENST00000531783.1_Missense_Mutation_p.P286R|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.P141R	p.P253R	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	1035	+			253					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.758C>G	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772186	0.31411	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.35236	1.32;2.52;1.32;2.88	3.24	-0.0379	0.13882	.	3.278760	0.01347	N	0.011778	T	0.45094	0.1325	L	0.34521	1.04	0.09310	N	1	D;D	0.65815	0.995;0.991	D;P	0.63877	0.919;0.831	T	0.25467	-1.0131	10	0.72032	D	0.01	0.0022	4.2116	0.10514	0.3538:0.5243:0.0:0.1219	.	236;253	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	R	141;253;236;286	ENSP00000437222:P141R;ENSP00000300187:P253R;ENSP00000378453:P236R;ENSP00000433761:P286R	ENSP00000300187:P253R	P	+	2	0	MS4A14	59939775	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.375000	0.07475	0.004000	0.14682	0.650000	0.86243	CCC		0.373	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			16	68	0	0	0	1	0	16	68				
PCDH11X	27328	broad.mit.edu	37	X	91090605	91090605	+	Missense_Mutation	SNP	G	G	T	rs2524441		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:91090605G>T	ENST00000373094.1	+	1	947	c.102G>T	c.(100-102)atG>atT	p.M34I	PCDH11X_ENST00000361655.2_Missense_Mutation_p.M34I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.M34I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.M34I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.M34I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	34	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAGAAGAAATGCCAGAAAACG	0.488																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(100-102)atG>atT		protocadherin 11 X-linked							153.0	114.0	127.0					X																	91090605		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090605G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.102G>T	X.37:g.91090605G>T	ENSP00000362186:p.Met34Ile					PCDH11X_ENST00000373097.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.M34I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.M34I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.M34I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.M34I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.M34I	p.M34I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	947	+			34			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.102G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836699	0.32421	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	3.93	3.05	0.35203	Cadherin, N-terminal (1);Cadherin (2);	0.143965	0.48767	D	0.000172	T	0.22589	0.0545	L	0.47716	1.5	0.34023	D	0.652875	B;B;B;B;B;B;B;B	0.33777	0.171;0.142;0.371;0.371;0.371;0.425;0.171;0.171	B;B;B;B;B;B;B;B	0.36608	0.089;0.103;0.146;0.146;0.146;0.229;0.089;0.089	T	0.29640	-1.0005	10	0.27785	T	0.31	.	10.5038	0.44821	0.1061:0.0:0.8939:0.0	rs2524441	34;34;34;34;34;34;34;34	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	34	ENSP00000378746:M34I;ENSP00000362186:M34I;ENSP00000362189:M34I;ENSP00000355040:M34I;ENSP00000362180:M34I;ENSP00000423762:M34I;ENSP00000355105:M34I;ENSP00000384758:M34I;ENSP00000298274:M34I	ENSP00000298274:M34I	M	+	3	0	PCDH11X	90977261	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.860000	0.55995	1.935000	0.56089	0.415000	0.27848	ATG		0.488	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		12	26	1	0	4.36969e-10	1	5.69743e-10	12	26				
IQGAP3	128239	broad.mit.edu	37	1	156518165	156518165	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:156518165G>C	ENST00000361170.2	-	18	2118	c.2108C>G	c.(2107-2109)tCt>tGt	p.S703C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	703					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTCAGGTGAGAGGTGTTGAG	0.572																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2107-2109)tCt>tGt		IQ motif containing GTPase activating protein 3							66.0	64.0	64.0					1																	156518165		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156518165G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2108C>G	1.37:g.156518165G>C	ENSP00000354451:p.Ser703Cys						p.S703C	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			18	2118	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		703					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2108C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001544	0.54254	.	.	ENSG00000183856	ENST00000361170	T	0.02709	4.19	4.83	4.83	0.62350	.	0.499266	0.21116	N	0.079899	T	0.03520	0.0101	M	0.68593	2.085	0.35258	D	0.779304	P	0.49696	0.927	P	0.45946	0.498	T	0.47522	-0.9111	10	0.44086	T	0.13	-9.88	16.506	0.84272	0.0:0.0:1.0:0.0	.	703	Q86VI3	IQGA3_HUMAN	C	703	ENSP00000354451:S703C	ENSP00000354451:S703C	S	-	2	0	IQGAP3	154784789	0.994000	0.37717	0.944000	0.38274	0.417000	0.31264	2.589000	0.46145	2.221000	0.72209	0.561000	0.74099	TCT		0.572	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		15	55	0	0	0	1	0	15	55				
KIFAP3	22920	broad.mit.edu	37	1	169993613	169993613	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:169993613T>A	ENST00000361580.2	-	9	1193	c.966A>T	c.(964-966)ttA>ttT	p.L322F	KIFAP3_ENST00000540905.1_Missense_Mutation_p.L24F|KIFAP3_ENST00000538366.1_Missense_Mutation_p.L244F|RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000367767.1_Missense_Mutation_p.L278F|KIFAP3_ENST00000367765.1_Missense_Mutation_p.L282F	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	322					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGACACAACTAAAATTAGCA	0.343																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(844-846)ttA>ttT		kinesin-associated protein 3							64.0	66.0	66.0					1																	169993613		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169993613T>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.966A>T	1.37:g.169993613T>A	ENSP00000354560:p.Leu322Phe					RP11-332H17.1_ENST00000440321.1_RNA|KIFAP3_ENST00000367767.1_Missense_Mutation_p.L278F|KIFAP3_ENST00000540905.1_Missense_Mutation_p.L24F|KIFAP3_ENST00000538366.1_Missense_Mutation_p.L244F|KIFAP3_ENST00000361580.2_Missense_Mutation_p.L322F	p.L282F	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			9	2347	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		322					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.846A>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.255976	0.80135	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	6.02	-4.7	0.03288	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.63690	-0.6580	9	.	.	.	-9.9829	5.5703	0.17192	0.1133:0.5103:0.229:0.1475	.	322	Q92845	KIFA3_HUMAN	F	322;282;278;24;244	ENSP00000354560:L322F;ENSP00000356739:L282F;ENSP00000356741:L278F;ENSP00000442712:L24F;ENSP00000444622:L244F	.	L	-	3	2	KIFAP3	168260237	0.998000	0.40836	0.962000	0.40283	0.858000	0.48976	0.579000	0.23788	-0.741000	0.04797	-0.263000	0.10527	TTA		0.343	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		11	28	0	0	0	1	0	11	28				
ZNF157	7712	broad.mit.edu	37	X	47272914	47272914	+	Missense_Mutation	SNP	G	G	T	rs144915700		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:47272914G>T	ENST00000377073.3	+	4	1528	c.1442G>T	c.(1441-1443)cGg>cTg	p.R481L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	481					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCTTTCTGCCGGAAAGCACAC	0.473																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1441-1443)cGg>cTg		zinc finger protein 157							69.0	60.0	63.0					X																	47272914		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272914G>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1442G>T	X.37:g.47272914G>T	ENSP00000366273:p.Arg481Leu						p.R481L	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1528	+			481					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1442G>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	4.943	0.175105	0.09391	.	.	ENSG00000147117	ENST00000377073	T	0.06218	3.33	3.37	0.505	0.16953	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	L	0.45581	1.43	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.40251	-0.9573	9	0.39692	T	0.17	.	2.6972	0.05138	0.4094:0.0:0.3777:0.2129	.	481	P51786	ZN157_HUMAN	L	481	ENSP00000366273:R481L	ENSP00000366273:R481L	R	+	2	0	ZNF157	47157858	0.000000	0.05858	0.454000	0.27019	0.982000	0.71751	-0.389000	0.07342	-0.017000	0.14103	0.600000	0.82982	CGG		0.473	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		19	32	1	0	7.41877e-09	1	9.39163e-09	19	32				
ZNF8	7554	broad.mit.edu	37	19	58806088	58806088	+	Missense_Mutation	SNP	G	G	A	rs373818346		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:58806088G>A	ENST00000196548.5	+	4	1045	c.914G>A	c.(913-915)cGc>cAc	p.R305H	ZNF8_ENST00000608843.1_Missense_Mutation_p.R305H|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	305					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CAGCATGAGCGCATCCACACT	0.532																																						ENST00000196548.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(913-915)cGc>cAc		zinc finger protein 8		G	HIS/ARG	0,4406		0,0,2203	89.0	90.0	90.0		914	4.8	1.0	19		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF8	NM_021089.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	305/576	58806088	1,13005	2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806088G>A	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.914G>A	19.37:g.58806088G>A	ENSP00000196548:p.Arg305His					AC010642.1_ENST00000591325.1_3'UTR	p.R305H	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1045	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	305					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.914G>A	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462844	0.63513	0.0	1.16E-4	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.25749	1.78	4.82	4.82	0.62117	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40302	N	0.001133	T	0.50309	0.1608	M	0.82923	2.615	0.32306	N	0.564437	D	0.89917	1.0	D	0.78314	0.991	T	0.63377	-0.6651	10	0.87932	D	0	-17.3879	9.2474	0.37534	0.0969:0.0:0.9031:0.0	.	305	P17098	ZNF8_HUMAN	H	305;20	ENSP00000196548:R305H	ENSP00000196548:R305H	R	+	2	0	ZNF8	63497900	0.001000	0.12720	0.999000	0.59377	0.647000	0.38526	0.917000	0.28665	2.671000	0.90904	0.644000	0.83932	CGC		0.532	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		10	59	0	0	0	1	0	10	59				
GLUD2	2747	broad.mit.edu	37	X	120181994	120181994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:120181994C>A	ENST00000328078.1	+	1	533	c.456C>A	c.(454-456)taC>taA	p.Y152*		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	152					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GTATCCGTTACAGCACTGATG	0.577																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(454-456)taC>taA		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						100.0	71.0	81.0					X																	120181994		2203	4300	6503	SO:0001587	stop_gained	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181994C>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.456C>A	X.37:g.120181994C>A	ENSP00000327589:p.Tyr152*						p.Y152*	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	533	+			152					B2R8G0|Q9UDQ4	Nonsense_Mutation	SNP	ENST00000328078.1	37	c.456C>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094002	0.76870	.	.	ENSG00000182890	ENST00000328078	.	.	.	1.62	1.62	0.23740	.	0.057957	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8196	0.35018	0.0:1.0:0.0:0.0	.	.	.	.	X	152	.	ENSP00000327589:Y152X	Y	+	3	2	GLUD2	120009675	0.996000	0.38824	0.030000	0.17652	0.731000	0.41821	0.130000	0.15850	1.139000	0.42245	0.472000	0.43445	TAC		0.577	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		25	63	1	0	7.88262e-20	1	1.26621e-19	25	63				
RASD2	23551	broad.mit.edu	37	22	35947937	35947937	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:35947937G>T	ENST00000216127.4	+	3	1301	c.659G>T	c.(658-660)cGc>cTc	p.R220L		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	220	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TTCTGCATGCGCCGCGTCAAG	0.632																																						ENST00000216127.4																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(658-660)cGc>cTc		RASD family, member 2							105.0	84.0	91.0					22																	35947937		2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947937G>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.659G>T	22.37:g.35947937G>T	ENSP00000216127:p.Arg220Leu						p.R220L	NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN			3	1301	+			220			Interaction with GNB1, GNB2 and GNB3.		O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.659G>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334041	0.60853	.	.	ENSG00000100302	ENST00000216127	T	0.71222	-0.55	5.68	5.68	0.88126	.	0.047678	0.85682	D	0.000000	T	0.61850	0.2380	L	0.29908	0.895	0.48288	D	0.999628	B	0.27351	0.176	B	0.29942	0.109	T	0.62599	-0.6820	10	0.72032	D	0.01	.	14.0659	0.64828	0.0719:0.0:0.9281:0.0	.	220	Q96D21	RHES_HUMAN	L	220	ENSP00000216127:R220L	ENSP00000216127:R220L	R	+	2	0	RASD2	34277883	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.901000	0.69861	2.705000	0.92388	0.556000	0.70494	CGC		0.632	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		24	69	1	0	4.87955e-14	1	7.1131e-14	24	69				
DPPA4	55211	broad.mit.edu	37	3	109050771	109050771	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:109050771G>T	ENST00000335658.6	-	3	340	c.286C>A	c.(286-288)Cgg>Agg	p.R96R	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	96					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						AGAATGTCCCGGTGAATCAGA	0.542																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(286-288)Cgg>Agg		developmental pluripotency associated 4							152.0	150.0	151.0					3																	109050771		2203	4300	6503	SO:0001819	synonymous_variant	55211					nucleus	protein binding	g.chr3:109050771G>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.286C>A	3.37:g.109050771G>T						DPPA4_ENST00000478791.1_5'UTR	p.R96R	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			3	340	-			96					A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	ENST00000335658.6	37	c.286C>A	CCDS33814.1																																																																																				0.542	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		22	81	1	0	7.87624e-14	1	1.14632e-13	22	81				
BSX	390259	broad.mit.edu	37	11	122848490	122848490	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:122848490C>T	ENST00000343035.2	-	3	617	c.569G>A	c.(568-570)cGc>cAc	p.R190H		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	190					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CTCTGAACCGCGGGGGCTGCC	0.652																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(568-570)cGc>cAc		brain-specific homeobox							27.0	31.0	29.0					11																	122848490		1849	4080	5929	SO:0001583	missense	390259							g.chr11:122848490C>T		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.569G>A	11.37:g.122848490C>T	ENSP00000344285:p.Arg190His						p.R190H	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	3	617	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	190						Missense_Mutation	SNP	ENST00000343035.2	37	c.569G>A	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004723	0.35320	.	.	ENSG00000188909	ENST00000343035	D	0.93133	-3.17	5.4	1.38	0.22167	.	0.234953	0.43747	D	0.000532	D	0.83922	0.5359	N	0.14661	0.345	0.23144	N	0.998224	B	0.02656	0.0	B	0.01281	0.0	T	0.73288	-0.4030	10	0.45353	T	0.12	.	7.2665	0.26232	0.0:0.5757:0.1391:0.2852	.	190	Q3C1V8	BSH_HUMAN	H	190	ENSP00000344285:R190H	ENSP00000344285:R190H	R	-	2	0	BSX	122353700	0.998000	0.40836	0.190000	0.23270	0.330000	0.28571	1.303000	0.33470	0.258000	0.21686	0.561000	0.74099	CGC		0.652	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		10	24	0	0	0	1	0	10	24				
ERAP2	64167	broad.mit.edu	37	5	96228050	96228050	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:96228050G>A	ENST00000437043.3	+	6	1729	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.G295S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	340					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGAAAATTGGGGCCTCATTAC	0.443																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1018-1020)Ggc>Agc		endoplasmic reticulum aminopeptidase 2							181.0	168.0	173.0					5																	96228050		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96228050G>A	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1018G>A	5.37:g.96228050G>A	ENSP00000400376:p.Gly340Ser					ERAP2_ENST00000379904.4_Missense_Mutation_p.G295S|CTD-2260A17.2_ENST00000501338.1_Intron	p.G340S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	6	1729	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	340					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.1018G>A	CCDS4086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.767507|4.767507	0.90020|0.90020	.|.	.|.	ENSG00000164308|ENSG00000164308	ENST00000508077|ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904	.|T;T;T;T	.|0.07216	.|3.21;3.21;3.21;3.21	4.49|4.49	3.61|3.61	0.41365|0.41365	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.37237|0.37237	0.0996|0.0996	H|H	0.94734|0.94734	3.575|3.575	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.48080|0.48080	-0.9066|-0.9066	6|10	.|0.87932	.|D	.|0	.|.	11.2326|11.2326	0.48920|0.48920	0.092:0.0:0.908:0.0|0.092:0.0:0.908:0.0	.|.	.|295;340	.|Q6P179-3;Q6P179	.|.;ERAP2_HUMAN	E|S	46|340;340;340;295	.|ENSP00000400376:G340S;ENSP00000421175:G340S;ENSP00000421849:G340S;ENSP00000369235:G295S	.|ENSP00000369235:G295S	G|G	+|+	2|1	0|0	ERAP2|ERAP2	96253806|96253806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.950000|5.950000	0.70265|0.70265	1.015000|1.015000	0.39444|0.39444	0.563000|0.563000	0.77884|0.77884	GGG|GGC		0.443	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		19	67	0	0	0	1	0	19	67				
GABPB1	2553	broad.mit.edu	37	15	50596258	50596258	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:50596258C>T	ENST00000220429.8	-	3	349	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	GABPB1_ENST00000396464.3_Missense_Mutation_p.G61S|GABPB1_ENST00000380877.3_Missense_Mutation_p.G61S|GABPB1_ENST00000429662.2_Missense_Mutation_p.G61S|GABPB1_ENST00000543881.1_5'UTR|GABPB1_ENST00000560825.1_Missense_Mutation_p.G61S|GABPB1_ENST00000359031.4_Missense_Mutation_p.G61S			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	61					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CTGCTCACACCAGCTCGCAGC	0.463																																						ENST00000380877.3																			0				cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						c.(181-183)Ggt>Agt		GA binding protein transcription factor, beta subunit 1							190.0	150.0	164.0					15																	50596258		2196	4295	6491	SO:0001583	missense	2553				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:50596258C>T	D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"""Ankyrin repeat domain containing"""	4074	protein-coding gene	gene with protein product		600610	"""GA binding protein transcription factor, beta subunit 2"""	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.181G>A	15.37:g.50596258C>T	ENSP00000220429:p.Gly61Ser					GABPB1_ENST00000396464.3_Missense_Mutation_p.G61S|GABPB1_ENST00000359031.4_Missense_Mutation_p.G61S|GABPB1_ENST00000543881.1_5'UTR|GABPB1_ENST00000220429.8_Missense_Mutation_p.G61S|GABPB1_ENST00000429662.2_Missense_Mutation_p.G61S|GABPB1_ENST00000560825.1_Missense_Mutation_p.G61S	p.G61S	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN			3	604	-			61					A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	ENST00000220429.8	37	c.181G>A	CCDS32239.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648233	0.87958	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.81341	2.54	0.80722	D	1	P;D;D;B;D	0.71674	0.686;0.992;0.998;0.192;0.998	B;D;D;B;D	0.71414	0.406;0.959;0.973;0.099;0.973	T	0.78051	-0.2355	10	0.87932	D	0	-5.8998	19.6374	0.95740	0.0:1.0:0.0:0.0	.	61;61;61;61;61	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	S	61	ENSP00000220429:G61S;ENSP00000370259:G61S;ENSP00000379728:G61S;ENSP00000395771:G61S;ENSP00000351923:G61S	ENSP00000220429:G61S	G	-	1	0	GABPB1	48383550	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.794000	0.85869	2.711000	0.92665	0.563000	0.77884	GGT		0.463	GABPB1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000418294.1			24	61	0	0	0	1	0	24	61				
FEZF1	389549	broad.mit.edu	37	7	121944099	121944099	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:121944099C>G	ENST00000442488.2	-	1	460	c.393G>C	c.(391-393)ctG>ctC	p.L131L	FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000427185.2_Silent_p.L131L|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Silent_p.L131L	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	131					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGTCGCGGGCCAGGTCGCCCT	0.682																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(391-393)ctG>ctC		FEZ family zinc finger 1							8.0	8.0	8.0					7																	121944099		2149	4209	6358	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944099C>G	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.393G>C	7.37:g.121944099C>G						FEZF1_ENST00000331178.4_Silent_p.L131L|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.L131L	p.L131L	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			1	460	-			131					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.393G>C	CCDS34741.2																																																																																				0.682	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		4	11	0	0	0	1	0	4	11				
SIM2	6493	broad.mit.edu	37	21	38081518	38081518	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:38081518G>A	ENST00000290399.6	+	2	839	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	SIM2_ENST00000430056.3_Missense_Mutation_p.V76I|SIM2_ENST00000460783.1_3'UTR	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	76					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCTGGACGGCGTCGCCAAGGA	0.711																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(226-228)Gtc>Atc		single-minded family bHLH transcription factor 2							17.0	19.0	18.0					21																	38081518		2198	4293	6491	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38081518G>A		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.226G>A	21.37:g.38081518G>A	ENSP00000290399:p.Val76Ile					SIM2_ENST00000430056.3_Missense_Mutation_p.V76I|SIM2_ENST00000460783.1_3'UTR	p.V76I	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			2	839	+			76					O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.226G>A	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.33|15.33	2.802904|2.802904	0.50315|0.50315	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000431229|ENST00000290399;ENST00000430056	.|T;T	.|0.06528	.|3.29;3.29	5.28|5.28	2.42|2.42	0.29668|0.29668	.|.	.|0.151362	.|0.64402	.|D	.|0.000016	T|T	0.04679|0.04679	0.0127|0.0127	N|N	0.20685|0.20685	0.6|0.6	0.30483|0.30483	N|N	0.772202|0.772202	.|B;B	.|0.15141	.|0.012;0.012	.|B;B	.|0.15870	.|0.006;0.014	T|T	0.11036|0.11036	-1.0604|-1.0604	5|10	.|0.45353	.|T	.|0.12	.|.	11.0563|11.0563	0.47920|0.47920	0.1993:0.0:0.8007:0.0|0.1993:0.0:0.8007:0.0	.|.	.|76;76	.|Q14190;Q14190-2	.|SIM2_HUMAN;.	H|I	13|76	.|ENSP00000290399:V76I;ENSP00000404176:V76I	.|ENSP00000290399:V76I	R|V	+|+	2|1	0|0	SIM2|SIM2	37003388|37003388	0.958000|0.958000	0.32768|0.32768	0.998000|0.998000	0.56505|0.56505	0.857000|0.857000	0.48899|0.48899	1.326000|1.326000	0.33735|0.33735	1.222000|1.222000	0.43521|0.43521	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.711	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		4	14	0	0	0	1	0	4	14				
SPAG17	200162	broad.mit.edu	37	1	118635845	118635845	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:118635845C>A	ENST00000336338.5	-	8	1172	c.1107G>T	c.(1105-1107)atG>atT	p.M369I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	369						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAATAAGCTGCATGCTTTCCA	0.413																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(1105-1107)atG>atT		sperm associated antigen 17							114.0	104.0	108.0					1																	118635845		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118635845C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1107G>T	1.37:g.118635845C>A	ENSP00000337804:p.Met369Ile						p.M369I	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	8	1172	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	369					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.1107G>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877837	0.33162	.	.	ENSG00000155761	ENST00000336338	T	0.62105	0.05	5.64	5.64	0.86602	.	0.411422	0.28927	N	0.013690	T	0.46268	0.1384	L	0.50333	1.59	0.27322	N	0.957029	P	0.39022	0.655	B	0.38264	0.269	T	0.52147	-0.8614	10	0.56958	D	0.05	.	16.3823	0.83472	0.0:0.7989:0.2011:0.0	.	369	Q6Q759	SPG17_HUMAN	I	369	ENSP00000337804:M369I	ENSP00000337804:M369I	M	-	3	0	SPAG17	118437368	1.000000	0.71417	0.998000	0.56505	0.316000	0.28119	1.846000	0.39289	2.651000	0.90000	0.591000	0.81541	ATG		0.413	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		12	24	1	0	2.27111e-07	1	2.74576e-07	12	24				
ANK1	286	broad.mit.edu	37	8	41525935	41525935	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:41525935C>T	ENST00000347528.4	-	39	5327	c.5244G>A	c.(5242-5244)caG>caA	p.Q1748Q	ANK1_ENST00000396942.1_Silent_p.Q1748Q|ANK1_ENST00000379758.2_Silent_p.Q1748Q|ANK1_ENST00000289734.7_Silent_p.Q1748Q|ANK1_ENST00000265709.8_Silent_p.Q1789Q|ANK1_ENST00000396945.1_Silent_p.Q1748Q|ANK1_ENST00000352337.4_Silent_p.Q1748Q|RP11-930P14.1_ENST00000522388.1_RNA	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1748	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCGTACTCCTGAGATCCAC	0.592																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5242-5244)caG>caA		ankyrin 1, erythrocytic							151.0	114.0	126.0					8																	41525935		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41525935C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5244G>A	8.37:g.41525935C>T						ANK1_ENST00000396945.1_Silent_p.Q1748Q|ANK1_ENST00000352337.4_Silent_p.Q1748Q|ANK1_ENST00000265709.8_Silent_p.Q1789Q|ANK1_ENST00000289734.7_Silent_p.Q1748Q|ANK1_ENST00000379758.2_Silent_p.Q1748Q|ANK1_ENST00000347528.4_Silent_p.Q1748Q	p.Q1748Q			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		39	5327	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1748			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.5244G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.599865	0.00849	.	.	ENSG00000029534	ENST00000520299	.	.	.	4.08	2.25	0.28309	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.21177	-1.0253	4	.	.	.	.	7.8227	0.29296	0.0:0.8042:0.0:0.1958	.	.	.	.	R	908	.	.	G	-	1	0	ANK1	41645092	0.136000	0.22515	0.004000	0.12327	0.002000	0.02628	1.189000	0.32114	0.502000	0.28037	0.462000	0.41574	GGA		0.592	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		27	36	0	0	0	1	0	27	36				
HYDIN	54768	broad.mit.edu	37	16	70894073	70894073	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:70894073G>T	ENST00000393567.2	-	71	12177	c.12027C>A	c.(12025-12027)taC>taA	p.Y4009*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4009					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCAGAAGGAGTAGGTGCTAT	0.473																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(12025-12027)taC>taA		HYDIN, axonemal central pair apparatus protein							24.0	28.0	27.0					16																	70894073		1798	4059	5857	SO:0001587	stop_gained	54768							g.chr16:70894073G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12027C>A	16.37:g.70894073G>T	ENSP00000377197:p.Tyr4009*						p.Y4009*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			71	12177	-		Ovarian(137;0.0654)	4009					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.12027C>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	53	21.566306	0.99941	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	5.51	3.2	0.36748	.	0.000000	0.30742	U	0.008972	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.57	0.56331	0.162:0.0:0.838:0.0	.	.	.	.	X	4009;4008	.	ENSP00000313052:Y4008X	Y	-	3	2	HYDIN	69451574	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.331000	0.43894	1.327000	0.45338	0.511000	0.50034	TAC		0.473	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			19	43	1	0	1.50039e-11	1	2.04375e-11	19	43				
ENOX1	55068	broad.mit.edu	37	13	43918804	43918804	+	Missense_Mutation	SNP	C	C	A	rs568201241		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:43918804C>A	ENST00000261488.6	-	9	1483	c.906G>T	c.(904-906)caG>caT	p.Q302H	ENOX1_ENST00000540032.1_Missense_Mutation_p.Q115H|ENOX1_ENST00000412891.1_Missense_Mutation_p.Q302H	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	302					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGGAATAGAACTGGTTTGCAG	0.493																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(904-906)caG>caT		ecto-NOX disulfide-thiol exchanger 1							125.0	117.0	120.0					13																	43918804		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43918804C>A	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.906G>T	13.37:g.43918804C>A	ENSP00000261488:p.Gln302His					ENOX1_ENST00000540032.1_Missense_Mutation_p.Q115H|ENOX1_ENST00000412891.1_Missense_Mutation_p.Q302H	p.Q302H	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	9	1483	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	302					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.906G>T	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	7.984	0.751808	0.15778	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.44881	0.91;0.91	5.92	2.83	0.33086	.	0.221884	0.46442	N	0.000286	T	0.15696	0.0378	N	0.02539	-0.55	0.43255	D	0.995189	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.05386	-1.0888	10	0.16420	T	0.52	-22.3682	8.2738	0.31860	0.0:0.6772:0.1202:0.2026	.	115;302	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	H	302;302;115	ENSP00000261488:Q302H;ENSP00000415054:Q302H	ENSP00000261488:Q302H	Q	-	3	2	ENOX1	42816804	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	0.779000	0.26746	0.831000	0.34780	0.655000	0.94253	CAG		0.493	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		19	45	1	0	3.51602e-12	1	4.87654e-12	19	45				
DNAH3	55567	broad.mit.edu	37	16	20996903	20996903	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:20996903C>A	ENST00000261383.3	-	48	7160	c.7161G>T	c.(7159-7161)gtG>gtT	p.V2387V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2387					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTCCATGACCACAGTCAGCT	0.453																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(7159-7161)gtG>gtT		dynein, axonemal, heavy chain 3							155.0	134.0	141.0					16																	20996903		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20996903C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7161G>T	16.37:g.20996903C>A						DNAH3_ENST00000415178.1_3'UTR	p.V2387V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7160	-			2387					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.7161G>T	CCDS10594.1																																																																																				0.453	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		21	79	1	0	2.89027e-11	1	3.90207e-11	21	79				
MTMR8	55613	broad.mit.edu	37	X	63488477	63488477	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:63488477C>G	ENST00000374852.3	-	14	2122	c.2055G>C	c.(2053-2055)ttG>ttC	p.L685F	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	685						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTGTGTCCCCCAAGATGCCCA	0.532																																						ENST00000374852.3																			2	Whole gene deletion(2)	p.0?(2)	ovary(1)|large_intestine(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(2053-2055)ttG>ttC		myotubularin related protein 8							72.0	63.0	66.0					X																	63488477		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63488477C>G	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.2055G>C	X.37:g.63488477C>G	ENSP00000363985:p.Leu685Phe					MTMR8_ENST00000453546.1_Intron	p.L685F	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			14	2122	-			685					Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.2055G>C	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.337|7.337	0.620079|0.620079	0.14193|0.14193	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000442913|ENST00000374852;ENST00000247400	.|D	.|0.94376	.|-3.41	3.06|3.06	-4.83|-4.83	0.03161|0.03161	.|.	.|.	.|.	.|.	.|.	T|T	0.80984|0.80984	0.4729|0.4729	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.66806|0.66806	-0.5830|-0.5830	5|9	.|0.42905	.|T	.|0.14	.|.	4.1954|4.1954	0.10441|0.10441	0.3155:0.3211:0.0:0.3634|0.3155:0.3211:0.0:0.3634	.|.	.|685	.|Q96EF0	.|MTMR8_HUMAN	R|F	489|685;571	.|ENSP00000363985:L685F	.|ENSP00000247400:L571F	G|L	-|-	1|3	0|2	MTMR8|MTMR8	63405202|63405202	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	0.981000|0.981000	0.29526|0.29526	-1.101000|-1.101000	0.03027|0.03027	-0.371000|-0.371000	0.07208|0.07208	GGG|TTG		0.532	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		18	30	0	0	0	1	0	18	30				
ZNF429	353088	broad.mit.edu	37	19	21720669	21720669	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:21720669C>T	ENST00000358491.4	+	4	2022	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	605					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTTAATCGGTCCTCAAGACTT	0.368																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1813-1815)tCc>tTc		zinc finger protein 429							58.0	63.0	61.0					19																	21720669		2084	4256	6340	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720669C>T	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1814C>T	19.37:g.21720669C>T	ENSP00000351280:p.Ser605Phe					ZNF429_ENST00000597078.1_Intron	p.S605F	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	2022	+			605					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1814C>T	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.395	-0.921247	0.02396	.	.	ENSG00000197013	ENST00000358491	T	0.08008	3.14	1.09	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10766	0.0263	M	0.66297	2.02	0.09310	N	1	D	0.56968	0.978	P	0.51453	0.67	T	0.21484	-1.0244	9	0.08381	T	0.77	.	4.1018	0.10017	0.0:0.4074:0.3122:0.2804	.	605	Q86V71	ZN429_HUMAN	F	605	ENSP00000351280:S605F	ENSP00000351280:S605F	S	+	2	0	ZNF429	21512509	0.001000	0.12720	0.000000	0.03702	0.100000	0.18952	1.118000	0.31246	-0.636000	0.05524	-0.708000	0.03648	TCC		0.368	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		9	47	0	0	0	1	0	9	47				
SLCO1A2	6579	broad.mit.edu	37	12	21467549	21467549	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:21467549C>G	ENST00000307378.6	-	5	989	c.269G>C	c.(268-270)gGc>gCc	p.G90A	SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G90A|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G88A|SLCO1A2_ENST00000537524.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	90					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACATCCAATGCCAATCATTAT	0.338																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(268-270)gGc>gCc		solute carrier organic anion transporter family, member 1A2							137.0	123.0	128.0					12																	21467549		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21467549C>G		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.269G>C	12.37:g.21467549C>G	ENSP00000305974:p.Gly90Ala					SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G90A|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G88A	p.G90A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			5	989	-			90					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.269G>C	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963958	0.34659	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000390670;ENST00000422327;ENST00000453443;ENST00000421294;ENST00000450590	T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.49	4.57	0.56435	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.164918	0.52532	D	0.000064	T	0.46852	0.1414	N	0.25485	0.75	0.37407	D	0.913104	B;B;B	0.30146	0.27;0.228;0.175	B;B;B	0.44108	0.256;0.257;0.441	T	0.39981	-0.9587	10	0.14656	T	0.56	.	12.3478	0.55130	0.0:0.7377:0.2623:0.0	.	70;88;90	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	A	90;90;88;90;90;90;90	ENSP00000305974:G90A;ENSP00000393973:G90A;ENSP00000375088:G88A;ENSP00000416190:G90A;ENSP00000409314:G90A;ENSP00000390572:G90A;ENSP00000407462:G90A	ENSP00000305974:G90A	G	-	2	0	SLCO1A2	21358816	0.998000	0.40836	0.972000	0.41901	0.863000	0.49368	2.971000	0.49248	2.860000	0.98153	0.655000	0.94253	GGC		0.338	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		9	67	0	0	0	1	0	9	67				
TNNT3	7140	broad.mit.edu	37	11	1959666	1959666	+	Splice_Site	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:1959666A>G	ENST00000397301.1	+	17	763		c.e17-1		TNNT3_ENST00000446240.1_Splice_Site|TNNT3_ENST00000278317.6_Splice_Site|TNNT3_ENST00000381561.4_Splice_Site|TNNT3_ENST00000381579.3_Splice_Site|TNNT3_ENST00000381558.1_Splice_Site|TNNT3_ENST00000381549.3_Splice_Site|TNNT3_ENST00000397304.2_Splice_Site|TNNT3_ENST00000360603.3_Splice_Site|TNNT3_ENST00000381589.3_Splice_Site|TNNT3_ENST00000381548.3_Splice_Site			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)						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)		TCCCATTTGCAGCAGCAAGAA	0.662																																						ENST00000381558.1																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.e15-1		troponin T type 3 (skeletal, fast)							52.0	60.0	58.0					11																	1959666		2202	4299	6501	SO:0001630	splice_region_variant	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.chr11:1959666A>G	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.756-1A>G	11.37:g.1959666A>G						TNNT3_ENST00000278317.6_Splice_Site|TNNT3_ENST00000446240.1_Splice_Site|TNNT3_ENST00000397304.2_Splice_Site|TNNT3_ENST00000381549.3_Splice_Site|TNNT3_ENST00000381579.3_Splice_Site|TNNT3_ENST00000381548.3_Splice_Site|TNNT3_ENST00000381561.4_Splice_Site|TNNT3_ENST00000397301.1_Splice_Site|TNNT3_ENST00000360603.3_Splice_Site|TNNT3_ENST00000381589.3_Splice_Site				P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	15	977	+		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)						A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Splice_Site	SNP	ENST00000397301.1	37			.	.	.	.	.	.	.	.	.	.	A	13.59	2.283569	0.40394	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	.	.	.	3.53	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5158	0.56032	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNNT3	1916242	0.998000	0.40836	0.951000	0.38953	0.842000	0.47809	5.188000	0.65093	1.613000	0.50231	0.379000	0.24179	.		0.662	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757	Intron	16	47	0	0	0	1	0	16	47				
IGHV1-45	28466	broad.mit.edu	37	14	106963343	106963343	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:106963343G>T	ENST00000390621.2	-	0	81									immunoglobulin heavy variable 1-45																		CCACCAAGAAGAGGATTCTCC	0.557																																						ENST00000390621.2																			0																				74.0	75.0	75.0					14																	106963343		1898	4108	6006			28466							g.chr14:106963343G>T	X92209		14q32.33	2012-02-08			ENSG00000211961	ENSG00000211961		"""Immunoglobulins / IGH locus"""	5553	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152075		14.37:g.106963343G>T														0	81	-									RNA	SNP	ENST00000390621.2	37																																																																																						0.557	IGHV1-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325169.1	NG_001019		16	74	1	0	3.52763e-06	1	4.0659e-06	16	74				
WASF2	10163	broad.mit.edu	37	1	27736340	27736340	+	Silent	SNP	A	A	G	rs71584884		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:27736340A>G	ENST00000430629.2	-	8	1400	c.1185T>C	c.(1183-1185)ccT>ccC	p.P395P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	395	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggaggagggggaggag	0.642																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(1183-1185)ccT>ccC		WAS protein family, member 2							51.0	53.0	52.0					1																	27736340		2203	4300	6503	SO:0001819	synonymous_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27736340A>G	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1185T>C	1.37:g.27736340A>G						WASF2_ENST00000536657.1_Intron	p.P395P	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	8	1400	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	395			Poly-Pro.		B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	c.1185T>C	CCDS304.1																																																																																				0.642	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		4	48	0	0	0	1	0	4	48				
TTN	7273	broad.mit.edu	37	2	179632518	179632518	+	Missense_Mutation	SNP	C	C	A	rs150283731		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179632518C>A	ENST00000591111.1	-	40	9663	c.9439G>T	c.(9439-9441)Gtt>Ttt	p.V3147F	TTN_ENST00000342175.6_Missense_Mutation_p.V3101F|TTN_ENST00000359218.5_Missense_Mutation_p.V3101F|TTN_ENST00000460472.2_Missense_Mutation_p.V3101F|TTN_ENST00000360870.5_Missense_Mutation_p.V3147F|TTN_ENST00000589042.1_Missense_Mutation_p.V3147F|TTN_ENST00000342992.6_Missense_Mutation_p.V3147F|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13479					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)			CGGATGCGAACATCTCTGCCT	0.403																																						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.(9439-9441)Gtt>Ttt		titin							134.0	135.0	134.0					2																	179632518		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179632518C>A	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.9439G>T	2.37:g.179632518C>A	ENSP00000465570:p.Val3147Phe					TTN_ENST00000359218.5_Missense_Mutation_p.V3101F|TTN_ENST00000360870.5_Missense_Mutation_p.V3147F|TTN_ENST00000342992.6_Missense_Mutation_p.V3147F|TTN_ENST00000342175.6_Missense_Mutation_p.V3101F|TTN_ENST00000591111.1_Missense_Mutation_p.V3147F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V3101F	p.V3147F	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)		40	9663	-			2882					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.9439G>T		.	.	.	.	.	.	.	.	.	.	C	13.83	2.355269	0.41700	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.05717	3.4;3.4;3.4;3.4;3.4	6.03	6.03	0.97812	Ribonuclease H-like (1);	.	.	.	.	T	0.22399	0.0540	M	0.62723	1.935	0.29746	N	0.836742	D;D;D;D;D	0.76494	0.982;0.982;0.982;0.982;0.999	P;P;P;P;D	0.70016	0.875;0.875;0.875;0.875;0.967	T	0.01330	-1.1383	9	0.87932	D	0	.	14.1385	0.65303	0.0:0.9235:0.0:0.0765	.	3101;3101;3101;3147;3147	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	F	3147;3101;3101;3101;3101;3147	ENSP00000343764:V3147F;ENSP00000434586:V3101F;ENSP00000340554:V3101F;ENSP00000352154:V3101F;ENSP00000354117:V3147F	ENSP00000340554:V3101F	V	-	1	0	TTN	179340763	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.902000	0.39848	2.854000	0.98071	0.655000	0.94253	GTT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	92	1	0	3.51602e-12	1	4.87654e-12	19	92				
SCN10A	6336	broad.mit.edu	37	3	38793729	38793729	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:38793729G>C	ENST00000449082.2	-	11	1735	c.1736C>G	c.(1735-1737)cCt>cGt	p.P579R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	579					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GACAGCTCCAGGGGCAAGCTC	0.562																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1735-1737)cCt>cGt		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						136.0	135.0	135.0					3																	38793729		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38793729G>C	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1736C>G	3.37:g.38793729G>C	ENSP00000390600:p.Pro579Arg						p.P579R	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	11	1735	-			579					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1736C>G	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	8.868	0.948595	0.18356	.	.	ENSG00000185313	ENST00000449082	D	0.96334	-3.98	4.31	3.44	0.39384	.	5.346760	0.00397	N	0.000045	D	0.93093	0.7801	N	0.08118	0	0.24401	N	0.99471	P	0.48089	0.905	P	0.47528	0.549	D	0.87893	0.2685	10	0.62326	D	0.03	.	8.2534	0.31739	0.1068:0.0:0.8932:0.0	.	579	Q9Y5Y9	SCNAA_HUMAN	R	579	ENSP00000390600:P579R	ENSP00000390600:P579R	P	-	2	0	SCN10A	38768733	0.989000	0.36119	0.900000	0.35374	0.508000	0.34012	3.817000	0.55668	1.418000	0.47098	0.462000	0.41574	CCT		0.562	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		10	60	0	0	0	1	0	10	60				
OR10C1	442194	broad.mit.edu	37	6	29407903	29407903	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29407903C>G	ENST00000444197.2	+	1	821	c.111C>G	c.(109-111)acC>acG	p.T37T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCTGCTGACCGTGGCAGGCA	0.557																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(109-111)acC>acG		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							178.0	154.0	163.0					6																	29407903		1511	2709	4220	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407903C>G		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.111C>G	6.37:g.29407903C>G						OR11A1_ENST00000377149.1_Intron	p.T37T	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	821	+			37					Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.111C>G	CCDS34364.1																																																																																				0.557	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			21	92	0	0	0	1	0	21	92				
TRPM6	140803	broad.mit.edu	37	9	77377561	77377561	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:77377561G>T	ENST00000360774.1	-	26	4263	c.4026C>A	c.(4024-4026)ggC>ggA	p.G1342G	TRPM6_ENST00000449912.2_Silent_p.G1337G|TRPM6_ENST00000451710.3_Silent_p.G1342G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.G1342G|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.G1337G	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1342					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAAGAAACTGGCCATACTTTG	0.468																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(4024-4026)ggC>ggA		transient receptor potential cation channel, subfamily M, member 6							174.0	184.0	180.0					9																	77377561		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377561G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4026C>A	9.37:g.77377561G>T						TRPM6_ENST00000376864.4_Silent_p.G1342G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.G1337G|TRPM6_ENST00000360774.1_Silent_p.G1342G|TRPM6_ENST00000449912.2_Silent_p.G1337G	p.G1342G			Q9BX84	TRPM6_HUMAN			26	4263	-			1342					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.4026C>A	CCDS6647.1																																																																																				0.468	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		108	129	1	0	8.05857e-52	1	1.36147e-51	108	129				
OPN3	23596	broad.mit.edu	37	1	241767853	241767853	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:241767853C>A	ENST00000366554.2	-	2	508	c.402G>T	c.(400-402)gtG>gtT	p.V134V	OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Intron	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	134					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CATAGGCCAGCACGGTTAGGG	0.507																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(400-402)gtG>gtT		opsin 3							62.0	61.0	61.0					1																	241767853		2203	4300	6503	SO:0001819	synonymous_variant	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241767853C>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.402G>T	1.37:g.241767853C>A						OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	p.V134V	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		2	508	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	134					Q8IX08|Q9Y344	Silent	SNP	ENST00000366554.2	37	c.402G>T	CCDS31072.1																																																																																				0.507	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		9	38	1	0	1.12685e-05	1	1.27784e-05	9	38				
TREML2	79865	broad.mit.edu	37	6	41162343	41162343	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:41162343G>T	ENST00000483722.1	-	3	790	c.605C>A	c.(604-606)cCc>cAc	p.P202H		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	202					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTCCTCCTGGGTCCCTGGCT	0.612																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(604-606)cCc>cAc		triggering receptor expressed on myeloid cells-like 2							111.0	89.0	97.0					6																	41162343		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41162343G>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.605C>A	6.37:g.41162343G>T	ENSP00000418767:p.Pro202His						p.P202H	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			3	790	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		202					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.605C>A	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501005	0.44455	.	.	ENSG00000112195	ENST00000483722	T	0.07567	3.18	4.13	2.31	0.28768	.	0.751962	0.11615	N	0.546304	T	0.05777	0.0151	L	0.55481	1.735	0.09310	N	1	D	0.58620	0.983	P	0.50231	0.635	T	0.26258	-1.0108	10	0.87932	D	0	-0.3265	6.9444	0.24510	0.0:0.192:0.6092:0.1988	.	202	Q5T2D2	TRML2_HUMAN	H	202	ENSP00000418767:P202H	ENSP00000418767:P202H	P	-	2	0	TREML2	41270321	0.001000	0.12720	0.000000	0.03702	0.074000	0.17049	0.766000	0.26560	0.492000	0.27815	0.549000	0.68633	CCC		0.612	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		11	29	1	0	0.010729	1	0.0110806	11	29				
ZNF623	9831	broad.mit.edu	37	8	144733584	144733584	+	Silent	SNP	C	C	T	rs140630158	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:144733584C>T	ENST00000501748.2	+	1	1631	c.1542C>T	c.(1540-1542)tcC>tcT	p.S514S	ZNF623_ENST00000526926.1_Silent_p.S474S|ZNF623_ENST00000458270.2_Silent_p.S474S	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	514					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)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGGACTCTCCTTGAGTAAGG	0.408																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(1540-1542)tcC>tcT		zinc finger protein 623							70.0	72.0	71.0					8																	144733584		2203	4300	6503	SO:0001819	synonymous_variant	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733584C>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1542C>T	8.37:g.144733584C>T						ZNF623_ENST00000458270.2_Silent_p.S474S|ZNF623_ENST00000526926.1_Silent_p.S474S	p.S514S	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1631	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		514					A4FU80|B4DGP3|E7ENV5	Silent	SNP	ENST00000501748.2	37	c.1542C>T	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	C	8.747	0.920330	0.17982	.	.	ENSG00000183309	ENST00000328466	.	.	.	3.43	0.443	0.16587	.	.	.	.	.	T	0.30135	0.0755	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35025	-0.9805	5	0.87932	D	0	0.0058	1.9486	0.03361	0.2068:0.4733:0.2014:0.1185	.	.	.	.	L	474	.	ENSP00000330358:P474L	P	+	2	0	ZNF623	144804727	0.000000	0.05858	0.002000	0.10522	0.502000	0.33828	-0.592000	0.05747	0.076000	0.16826	0.491000	0.48974	CCT		0.408	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		28	69	0	0	0	1	0	28	69				
TNN	63923	broad.mit.edu	37	1	175048551	175048551	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:175048551C>A	ENST00000239462.4	+	3	605	c.492C>A	c.(490-492)ccC>ccA	p.P164P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	164					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGAGGGCCCCGCCTGCGAGC	0.721																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(490-492)ccC>ccA		tenascin N							6.0	7.0	7.0					1																	175048551		1898	3897	5795	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048551C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.492C>A	1.37:g.175048551C>A							p.P164P	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	605	+		Breast(1374;0.000962)	164					B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.492C>A	CCDS30943.1																																																																																				0.721	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		7	12	1	0	0.00307968	1	0.00322431	7	12				
STXBP5L	9515	broad.mit.edu	37	3	120941922	120941922	+	Missense_Mutation	SNP	G	G	T	rs555306958		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:120941922G>T	ENST00000273666.6	+	11	1300	c.1029G>T	c.(1027-1029)atG>atT	p.M343I	STXBP5L_ENST00000472879.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.M343I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	343					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAACCATCATGCATGGAAAAG	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		20033	0.0		0.0	False		,,,				2504	0.001					ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1027-1029)atG>atT		syntaxin binding protein 5-like							162.0	153.0	156.0					3																	120941922		1876	4107	5983	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120941922G>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1029G>T	3.37:g.120941922G>T	ENSP00000273666:p.Met343Ile					STXBP5L_ENST00000472879.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.M343I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.M343I	p.M343I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	11	1300	+			343					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1029G>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340590	0.60963	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.37058	1.91;1.91;1.71;1.22;1.71;1.92	4.5	4.5	0.54988	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.31664	0.95	0.80722	D	1	B;D	0.56521	0.32;0.976	B;D	0.72338	0.248;0.977	T	0.36187	-0.9758	10	0.30078	T	0.28	-25.166	17.3968	0.87448	0.0:0.0:1.0:0.0	.	343;343	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	343	ENSP00000273666:M343I;ENSP00000420019:M343I;ENSP00000419627:M343I;ENSP00000420287:M343I;ENSP00000420666:M343I;ENSP00000420167:M343I	ENSP00000273666:M343I	M	+	3	0	STXBP5L	122424612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.316000	0.78162	0.462000	0.41574	ATG		0.353	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			16	53	1	0	1.99824e-07	1	2.42226e-07	16	53				
KIAA1210	57481	broad.mit.edu	37	X	118219356	118219356	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:118219356G>C	ENST00000402510.2	-	12	4837	c.4838C>G	c.(4837-4839)cCt>cGt	p.P1613R		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1613										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCATATTTAGGCTCCTTAGT	0.448																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(4837-4839)cCt>cGt		KIAA1210							154.0	143.0	146.0					X																	118219356		1884	4106	5990	SO:0001583	missense	57481							g.chrX:118219356G>C	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4838C>G	X.37:g.118219356G>C	ENSP00000384670:p.Pro1613Arg						p.P1613R	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			12	4837	-			1613					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4838C>G	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161186	0.57368	.	.	ENSG00000250423	ENST00000402510	T	0.13089	2.62	4.21	2.32	0.28847	.	.	.	.	.	T	0.28001	0.0690	M	0.72894	2.215	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.16129	-1.0413	9	0.09338	T	0.73	.	8.2034	0.31438	0.0:0.0:0.5304:0.4696	.	1613	Q9ULL0	K1210_HUMAN	R	1613	ENSP00000384670:P1613R	ENSP00000384670:P1613R	P	-	2	0	RP13-347D8.6	118103384	0.001000	0.12720	0.008000	0.14137	0.813000	0.45954	0.400000	0.20932	0.462000	0.27095	0.513000	0.50165	CCT		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		56	104	0	0	0	1	0	56	104				
NLRP3	114548	broad.mit.edu	37	1	247608040	247608040	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247608040G>T	ENST00000336119.3	+	8	3674	c.2928G>T	c.(2926-2928)ctG>ctT	p.L976L	NLRP3_ENST00000366496.2_Silent_p.L919L|NLRP3_ENST00000366497.2_Silent_p.L919L|NLRP3_ENST00000348069.2_Silent_p.L862L|NLRP3_ENST00000391828.3_Silent_p.L976L|NLRP3_ENST00000391827.2_Silent_p.L919L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	976					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCTGAGCCTGGGCAACAATG	0.562																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2755-2757)ctG>ctT		NLR family, pyrin domain containing 3							67.0	61.0	63.0					1																	247608040		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247608040G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2928G>T	1.37:g.247608040G>T						NLRP3_ENST00000366496.2_Silent_p.L919L|NLRP3_ENST00000348069.2_Silent_p.L862L|NLRP3_ENST00000391827.2_Silent_p.L919L|NLRP3_ENST00000391828.3_Silent_p.L976L|NLRP3_ENST00000336119.3_Silent_p.L976L	p.L919L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		8	3537	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	976					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2757G>T	CCDS1632.1																																																																																				0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		20	41	1	0	2.94398e-08	1	3.65598e-08	20	41				
OR13F1	138805	broad.mit.edu	37	9	107267257	107267257	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:107267257T>C	ENST00000334726.2	+	1	803	c.714T>C	c.(712-714)ttT>ttC	p.F238F		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTAAAGCCTTTTCAACGTGCA	0.478																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(712-714)ttT>ttC		olfactory receptor, family 13, subfamily F, member 1							183.0	168.0	173.0					9																	107267257		2203	4300	6503	SO:0001819	synonymous_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267257T>C		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.714T>C	9.37:g.107267257T>C							p.F238F	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	803	+			238					Q6IF50	Silent	SNP	ENST00000334726.2	37	c.714T>C	CCDS35087.1																																																																																				0.478	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			11	131	0	0	0	1	0	11	131				
ZNF833P	401898	broad.mit.edu	37	19	11796295	11796295	+	lincRNA	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:11796295A>T	ENST00000344893.3	+	0	2294					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CGAAATCATGAAAACACTCAC	0.368																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5															43.0	43.0	43.0					19																	11796295		2203	4300	6503			401898							g.chr19:11796295A>T	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796295A>T								NR_028594.1						0	2294	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.368	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		8	22	0	0	0	1	0	8	22				
FAM3A	60343	broad.mit.edu	37	X	153741192	153741192	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153741192C>A	ENST00000447601.2	-	2	548	c.82G>T	c.(82-84)Ggt>Tgt	p.G28C	FAM3A_ENST00000393572.1_Intron|FAM3A_ENST00000492763.1_5'UTR|FAM3A_ENST00000434658.2_Missense_Mutation_p.G28C|FAM3A_ENST00000369641.3_Missense_Mutation_p.G28C|FAM3A_ENST00000369643.1_Missense_Mutation_p.G28C|FAM3A_ENST00000359889.5_Missense_Mutation_p.G28C	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	28						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGCCCACCCAGGAGGATG	0.612																																						ENST00000434658.2																			0				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(82-84)Ggt>Tgt		family with sequence similarity 3, member A							145.0	111.0	123.0					X																	153741192		2203	4300	6503	SO:0001583	missense	60343					extracellular region		g.chrX:153741192C>A	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.82G>T	X.37:g.153741192C>A	ENSP00000416146:p.Gly28Cys					FAM3A_ENST00000393572.1_Intron|FAM3A_ENST00000359889.5_Missense_Mutation_p.G28C|FAM3A_ENST00000369641.3_Missense_Mutation_p.G28C|FAM3A_ENST00000492763.1_5'UTR|FAM3A_ENST00000447601.2_Missense_Mutation_p.G28C|FAM3A_ENST00000369643.1_Missense_Mutation_p.G28C	p.G28C	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN			2	551	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		28					A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	ENST00000447601.2	37	c.82G>T	CCDS35453.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402890	0.62288	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000426266	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	4.61	2.8	0.32819	.	0.430329	0.24211	N	0.040527	T	0.48874	0.1524	L	0.57536	1.79	0.46356	D	0.999005	D;D	0.71674	0.991;0.998	P;D	0.66084	0.904;0.941	T	0.41378	-0.9512	10	0.87932	D	0	.	6.8235	0.23870	0.0:0.7252:0.1737:0.1011	.	28;28	B4DFI8;P98173	.;FAM3A_HUMAN	C	28	ENSP00000396243:G28C;ENSP00000352955:G28C;ENSP00000358657:G28C;ENSP00000416146:G28C;ENSP00000358655:G28C;ENSP00000396845:G28C	ENSP00000320521:G28C	G	-	1	0	FAM3A	153394386	1.000000	0.71417	0.972000	0.41901	0.980000	0.70556	2.081000	0.41596	0.239000	0.21243	0.431000	0.28591	GGT		0.612	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			22	88	1	0	6.32553e-13	1	8.89467e-13	22	88				
RPSAP58	388524	broad.mit.edu	37	19	24010579	24010579	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:24010579G>C	ENST00000496398.1	+	4	1039	c.616G>C	c.(616-618)Gat>Cat	p.D206H	RPSAP58_ENST00000354585.4_Missense_Mutation_p.D206H|RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTTCTACAGAGATCCTGAAGA	0.522																																						ENST00000496398.1																			0				endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						c.(616-618)Gat>Cat																																						SO:0001583	missense	388524							g.chr19:24010579G>C			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.616G>C	19.37:g.24010579G>C	ENSP00000417240:p.Asp206His					RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.D206H	p.D206H							4	1039	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.616G>C		.	.	.	.	.	.	.	.	.	.	.	16.64	3.179657	0.57800	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.60171	0.21;0.21	2.75	2.75	0.32379	.	0.000000	0.64402	U	0.000001	T	0.72661	0.3488	.	.	.	0.58432	D	0.999997	D	0.89917	1.0	D	0.71656	0.974	T	0.76836	-0.2812	9	0.87932	D	0	.	11.3955	0.49838	0.0:0.0:1.0:0.0	.	206	A6NE09	.	H	206	ENSP00000417240:D206H;ENSP00000346598:D206H	ENSP00000346598:D206H	D	+	1	0	RPSAP58	23802419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.275000	0.72594	1.596000	0.50062	0.627000	0.83407	GAT		0.522	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662		4	17	0	0	0	1	0	4	17				
FAM188A	80013	broad.mit.edu	37	10	15885231	15885231	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:15885231G>T	ENST00000277632.3	-	3	435	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	72					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCGCCAAGAAGACTTCTCCGA	0.333																																					Pancreas(159;946 1953 2111 4475 22008)	ENST00000277632.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						c.(214-216)tCt>tAt		family with sequence similarity 188, member A							81.0	90.0	87.0					10																	15885231		2203	4299	6502	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15885231G>T	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.215C>A	10.37:g.15885231G>T	ENSP00000277632:p.Ser72Tyr					FAM188A_ENST00000477891.1_5'UTR	p.S72Y	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN			3	435	-			72					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.215C>A	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	G	5.151	0.213445	0.09757	.	.	ENSG00000148481	ENST00000277632	T	0.31247	1.5	5.44	5.44	0.79542	.	0.108649	0.64402	D	0.000003	T	0.34832	0.0911	L	0.45137	1.4	0.80722	D	1	P	0.46142	0.873	P	0.52267	0.694	T	0.04930	-1.0917	10	0.02654	T	1	-12.796	15.9816	0.80114	0.0:0.0:1.0:0.0	.	72	Q9H8M7	F188A_HUMAN	Y	72	ENSP00000277632:S72Y	ENSP00000277632:S72Y	S	-	2	0	FAM188A	15925237	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	4.990000	0.63876	2.545000	0.85829	0.655000	0.94253	TCT		0.333	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		5	61	1	0	3.59834e-05	1	4.03049e-05	5	61				
CDH12	1010	broad.mit.edu	37	5	21755700	21755700	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:21755700C>T	ENST00000382254.1	-	14	2971	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T	CDH12_ENST00000504376.2_Splice_Site_p.A629T|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Splice_Site_p.A589T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	629					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGAAACCAACCTAAGAGTATA	0.383										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.e14+1		cadherin 12, type 2 (N-cadherin 2)							79.0	72.0	74.0					5																	21755700		2203	4300	6503	SO:0001630	splice_region_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21755700C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1885+1G>A	5.37:g.21755700C>T		HNSCC(59;0.17)				CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Splice_Site_p.A629_splice|CDH12_ENST00000522262.1_Splice_Site_p.A589_splice	p.A629_splice	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			14	2971	-			629					B2RBT1|B7Z2U6|Q86UD2	Splice_Site	SNP	ENST00000382254.1	37	c.1885_splice	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887251	0.72410	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.59083	0.34;0.34;0.29	5.56	5.56	0.83823	.	0.172136	0.49916	D	0.000128	T	0.45115	0.1326	N	0.19112	0.55	0.54753	D	0.999989	B;B	0.15141	0.0;0.012	B;B	0.12156	0.004;0.007	T	0.30268	-0.9984	9	.	.	.	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	589;629	B7Z2U6;P55289	.;CAD12_HUMAN	T	629;629;589	ENSP00000423577:A629T;ENSP00000371689:A629T;ENSP00000428786:A589T	.	A	-	1	0	CDH12	21791457	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.471000	0.80985	2.619000	0.88677	0.460000	0.39030	GCC		0.383	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	Missense_Mutation	3	25	0	0	0	1	0	3	25				
ANK3	288	broad.mit.edu	37	10	61832871	61832871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:61832871C>A	ENST00000280772.2	-	37	7959	c.7768G>T	c.(7768-7770)Gaa>Taa	p.E2590*	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2590					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTGACACTTCAGTCAGTTTT	0.418																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(7768-7770)Gaa>Taa		ankyrin 3, node of Ranvier (ankyrin G)							112.0	105.0	107.0					10																	61832871		2203	4300	6503	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832871C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7768G>T	10.37:g.61832871C>A	ENSP00000280772:p.Glu2590*					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.E2590*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	7959	-			2590					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.7768G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	49	15.944169	0.99849	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.66	4.75	0.60458	.	0.162144	0.28871	N	0.013870	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	16.701	0.85349	0.0:0.8704:0.1295:0.0	.	.	.	.	X	2590	.	ENSP00000280772:E2590X	E	-	1	0	ANK3	61502877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.967000	0.63722	1.375000	0.46248	0.462000	0.41574	GAA		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		13	59	1	0	4.3838e-07	1	5.24449e-07	13	59				
ELMO2	63916	broad.mit.edu	37	20	45021779	45021779	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:45021779G>A	ENST00000290246.6	-	6	390	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.R66C|ELMO2_ENST00000439931.2_Missense_Mutation_p.R66C|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.R66C	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	66					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATGTCACTGCGAGTCTGGGTA	0.338																																						ENST00000290246.6																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(196-198)Cgc>Tgc		engulfment and cell motility 2							79.0	81.0	80.0					20																	45021779		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45021779G>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.196C>T	20.37:g.45021779G>A	ENSP00000290246:p.Arg66Cys					ELMO2_ENST00000439931.2_Missense_Mutation_p.R66C|ELMO2_ENST00000396391.1_Missense_Mutation_p.R66C|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.R66C|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000372176.1_5'UTR	p.R66C	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN			6	390	-		Myeloproliferative disorder(115;0.0122)	66					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.196C>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478915	0.84747	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.32515	2.15;2.15;2.13;2.14;1.45	4.75	4.75	0.60458	.	0.117044	0.64402	N	0.000013	T	0.59376	0.2189	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.66548	-0.5896	10	0.87932	D	0	-14.5274	16.9087	0.86135	0.0:0.0:1.0:0.0	.	66;66	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	C	66	ENSP00000290246:R66C;ENSP00000379673:R66C;ENSP00000396519:R66C;ENSP00000326172:R66C;ENSP00000416181:R66C	ENSP00000290246:R66C	R	-	1	0	ELMO2	44455186	1.000000	0.71417	0.986000	0.45419	0.770000	0.43624	9.203000	0.95033	2.449000	0.82847	0.491000	0.48974	CGC		0.338	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		4	50	0	0	0	1	0	4	50				
OR8U1	219417	broad.mit.edu	37	11	56143391	56143391	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56143391G>T	ENST00000302270.1	+	1	292	c.292G>T	c.(292-294)Gct>Tct	p.A98S		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGATGCATGTGCTACTCAACT	0.408																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(292-294)Gct>Tct		olfactory receptor, family 8, subfamily U, member 1							207.0	194.0	199.0					11																	56143391		2056	4227	6283	SO:0001583	missense	219417							g.chr11:56143391G>T	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.292G>T	11.37:g.56143391G>T	ENSP00000304188:p.Ala98Ser						p.A98S	NM_001005204.1	NP_001005204.1					1	292	+	Esophageal squamous(21;0.00448)								Missense_Mutation	SNP	ENST00000302270.1	37	c.292G>T	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518453	0.44763	.	.	ENSG00000172199	ENST00000302270	T	0.00402	7.56	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000213	T	0.01029	0.0034	M	0.79258	2.445	0.27109	N	0.962427	D	0.89917	1.0	D	0.72338	0.977	T	0.45086	-0.9285	10	0.56958	D	0.05	.	9.171	0.37081	0.0749:0.0:0.779:0.1461	.	98	Q8NH10	OR8U1_HUMAN	S	98	ENSP00000304188:A98S	ENSP00000304188:A98S	A	+	1	0	OR8U1	55899967	0.000000	0.05858	0.999000	0.59377	0.091000	0.18340	-0.284000	0.08422	2.743000	0.94032	0.643000	0.83706	GCT		0.408	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		34	88	1	0	4.34311e-12	1	5.97831e-12	34	88				
ZNF99	7652	broad.mit.edu	37	19	22951156	22951156	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:22951156C>A	ENST00000596209.1	-	3	267	c.177G>T	c.(175-177)ggG>ggT	p.G59G	ZNF99_ENST00000397104.3_Silent_p.G80G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGCTCTTTCCCTTGCTTCA	0.368																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(238-240)ggG>ggT		zinc finger protein 99							68.0	68.0	68.0					19																	22951156		2171	4291	6462	SO:0001819	synonymous_variant	7652							g.chr19:22951156C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.177G>T	19.37:g.22951156C>A						ZNF99_ENST00000596209.1_Silent_p.G59G	p.G80G							3	239	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.240G>T	CCDS59369.1																																																																																				0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		8	20	1	0	1.76689e-08	1	2.20922e-08	8	20				
SEC11C	90701	broad.mit.edu	37	18	56825879	56825879	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:56825879G>C	ENST00000587834.1	+	6	1013	c.541G>C	c.(541-543)Gta>Cta	p.V181L	SEC11C_ENST00000588875.1_Silent_p.L161L	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	181					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TCTTTTGGCTGTAATGGGTGC	0.348																																						ENST00000587834.1																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9						c.(541-543)Gta>Cta		SEC11 homolog C (S. cerevisiae)							170.0	153.0	159.0					18																	56825879		2203	4300	6503	SO:0001583	missense	90701				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity	g.chr18:56825879G>C	AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"""SEC11-like 3 (S. cerevisiae)"""	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.541G>C	18.37:g.56825879G>C	ENSP00000468633:p.Val181Leu					SEC11C_ENST00000588875.1_Silent_p.L161L	p.V181L	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN			6	1013	+		Colorectal(73;0.175)	181					B2RAA3	Missense_Mutation	SNP	ENST00000587834.1	37	c.541G>C	CCDS11970.1	.	.	.	.	.	.	.	.	.	.	G	4.460	0.085192	0.08583	.	.	ENSG00000166562	ENST00000299714	.	.	.	6.16	3.44	0.39384	.	0.342640	0.28225	N	0.016121	T	0.27134	0.0665	N	0.05414	-0.055	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18967	-1.0320	9	0.02654	T	1	-9.3278	11.9585	0.52995	0.251:0.0:0.749:0.0	.	181	Q9BY50	SC11C_HUMAN	L	181	.	ENSP00000299714:V181L	V	+	1	0	SEC11C	54976859	1.000000	0.71417	0.941000	0.38009	0.940000	0.58332	1.874000	0.39568	0.195000	0.20347	-0.813000	0.03139	GTA		0.348	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256134.2	NM_033280		8	41	0	0	0	1	0	8	41				
TBC1D2B	23102	broad.mit.edu	37	15	78305432	78305432	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:78305432C>A	ENST00000300584.3	-	9	2002	c.2003G>T	c.(2002-2004)cGt>cTt	p.R668L	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.R668L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	668	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CACCTTGGAACGGTGCTCGTG	0.532																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2002-2004)cGt>cTt		TBC1 domain family, member 2B							108.0	91.0	97.0					15																	78305432		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78305432C>A	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2003G>T	15.37:g.78305432C>A	ENSP00000300584:p.Arg668Leu					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R668L	p.R668L			Q9UPU7	TBD2B_HUMAN			9	2074	-			668			Rab-GAP TBC.		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2003G>T	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.896938|4.896938	0.91962|0.91962	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.33865|.	1.39;1.39|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Rab-GAP/TBC domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90601|0.90601	0.7053|0.7053	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;1.0;0.999|.	D|D	0.93708|0.93708	0.7021|0.7021	10|5	0.87932|.	D|.	0|.	.|.	18.6826|18.6826	0.91551|0.91551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	668;120;668|.	Q9UPU7-2;Q9UPU7-3;Q9UPU7|.	.;.;TBD2B_HUMAN|.	L|F	668|550	ENSP00000387165:R668L;ENSP00000300584:R668L|.	ENSP00000300584:R668L|.	R|V	-|-	2|1	0|0	TBC1D2B|TBC1D2B	76092487|76092487	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.685000|0.685000	0.39939|0.39939	7.631000|7.631000	0.83237|0.83237	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.532	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		14	39	1	0	7.93312e-07	1	9.41672e-07	14	39				
SAAL1	113174	broad.mit.edu	37	11	18103051	18103051	+	Splice_Site	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:18103051C>G	ENST00000524803.1	-	11	1289		c.e11-1		SAAL1_ENST00000300013.4_Splice_Site|SAAL1_ENST00000529318.1_Splice_Site			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1											breast(2)|large_intestine(5)|lung(8)	15						CCACCGTCTCCTAAAACAACA	0.378																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.e11-1		serum amyloid A-like 1							90.0	86.0	87.0					11																	18103051		2200	4293	6493	SO:0001630	splice_region_variant	113174				acute-phase response	extracellular region	binding	g.chr11:18103051C>G	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1240-1G>C	11.37:g.18103051C>G						SAAL1_ENST00000529318.1_Splice_Site|SAAL1_ENST00000300013.4_Splice_Site				Q96ER3	SAAL1_HUMAN			11	1289	-								A6NH05	Splice_Site	SNP	ENST00000524803.1	37		CCDS31439.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089720	0.36855	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000530436;ENST00000531751;ENST00000532452;ENST00000529318	.	.	.	5.93	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7659	0.51930	0.0:0.8097:0.1242:0.0661	.	.	.	.	.	-1	.	.	.	-	.	.	SAAL1	18059627	1.000000	0.71417	0.987000	0.45799	0.598000	0.36846	5.857000	0.69525	0.845000	0.35118	-0.323000	0.08544	.		0.378	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421	Intron	10	30	0	0	0	1	0	10	30				
SLITRK2	84631	broad.mit.edu	37	X	144904343	144904343	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:144904343G>C	ENST00000370490.1	+	1	4655	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	SLITRK2_ENST00000434188.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E134Q			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	134					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTAGGCCTGGAGAGCCTGGA	0.498																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(400-402)Gag>Cag		SLIT and NTRK-like family, member 2							80.0	63.0	69.0					X																	144904343		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904343G>C	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.400G>C	X.37:g.144904343G>C	ENSP00000359521:p.Glu134Gln					SLITRK2_ENST00000434188.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E134Q|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E134Q	p.E134Q			Q9H156	SLIK2_HUMAN			1	4655	+	Acute lymphoblastic leukemia(192;6.56e-05)		134					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.400G>C	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079895	0.76528	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	4.95	4.95	0.65309	.	0.058343	0.64402	U	0.000002	T	0.42314	0.1197	N	0.16790	0.44	0.58432	D	0.999999	B	0.28233	0.204	B	0.36719	0.231	T	0.36672	-0.9738	10	0.33940	T	0.23	-10.1773	14.6056	0.68475	0.0:0.0:1.0:0.0	.	134	Q9H156	SLIK2_HUMAN	Q	134	ENSP00000334374:E134Q;ENSP00000411681:E134Q;ENSP00000359521:E134Q;ENSP00000397015:E134Q;ENSP00000407347:E134Q;ENSP00000412010:E134Q	ENSP00000334374:E134Q	E	+	1	0	SLITRK2	144712035	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.027000	0.59764	0.600000	0.82982	GAG		0.498	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		36	66	0	0	0	1	0	36	66				
NLRP3	114548	broad.mit.edu	37	1	247608042	247608042	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:247608042G>T	ENST00000336119.3	+	8	3676	c.2930G>T	c.(2929-2931)gGc>gTc	p.G977V	NLRP3_ENST00000366496.2_Missense_Mutation_p.G920V|NLRP3_ENST00000366497.2_Missense_Mutation_p.G920V|NLRP3_ENST00000348069.2_Missense_Mutation_p.G863V|NLRP3_ENST00000391828.3_Missense_Mutation_p.G977V|NLRP3_ENST00000391827.2_Missense_Mutation_p.G920V	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	977					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGAGCCTGGGCAACAATGAC	0.557																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2758-2760)gGc>gTc		NLR family, pyrin domain containing 3							67.0	61.0	63.0					1																	247608042		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247608042G>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2930G>T	1.37:g.247608042G>T	ENSP00000337383:p.Gly977Val					NLRP3_ENST00000366496.2_Missense_Mutation_p.G920V|NLRP3_ENST00000348069.2_Missense_Mutation_p.G863V|NLRP3_ENST00000391827.2_Missense_Mutation_p.G920V|NLRP3_ENST00000391828.3_Missense_Mutation_p.G977V|NLRP3_ENST00000336119.3_Missense_Mutation_p.G977V	p.G920V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		8	3539	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	977					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2759G>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293899	0.40594	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	4.71	3.8	0.43715	.	0.137284	0.34133	N	0.004235	T	0.50735	0.1633	M	0.67953	2.075	0.47862	D	0.999531	B;B;P;B;P	0.38048	0.014;0.41;0.534;0.021;0.616	B;B;B;B;B	0.40982	0.061;0.345;0.205;0.07;0.258	T	0.47812	-0.9088	10	0.31617	T	0.26	.	9.5843	0.39506	0.1001:0.0:0.8998:0.0	.	957;920;863;920;977	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	V	977;920;977;863;920;920	ENSP00000375704:G977V;ENSP00000355453:G920V;ENSP00000337383:G977V;ENSP00000294752:G863V;ENSP00000355452:G920V;ENSP00000375703:G920V	ENSP00000337383:G977V	G	+	2	0	NLRP3	245674665	0.946000	0.32159	0.110000	0.21437	0.959000	0.62525	1.946000	0.40283	1.290000	0.44636	0.549000	0.68633	GGC		0.557	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		19	39	1	0	6.94344e-10	1	9.01464e-10	19	39				
LRFN5	145581	broad.mit.edu	37	14	42355882	42355882	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:42355882G>A	ENST00000298119.4	+	3	1243	c.54G>A	c.(52-54)caG>caA	p.Q18Q	LRFN5_ENST00000554171.1_Silent_p.Q18Q|LRFN5_ENST00000554120.1_Silent_p.Q18Q	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	18	LRRNT.					integral component of membrane (GO:0016021)		p.Q18Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAAAGCTCAGATCTGTCCAA	0.383										HNSCC(30;0.082)																												ENST00000554171.1																			1	Substitution - coding silent(1)	p.Q18Q(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(52-54)caG>caA		leucine rich repeat and fibronectin type III domain containing 5							82.0	76.0	78.0					14																	42355882		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42355882G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.54G>A	14.37:g.42355882G>A		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Silent_p.Q18Q|LRFN5_ENST00000298119.4_Silent_p.Q18Q	p.Q18Q			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	2486	+			18			LRRNT.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.54G>A	CCDS9678.1																																																																																				0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		7	36	0	0	0	1	0	7	36				
USP34	9736	broad.mit.edu	37	2	61577807	61577807	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:61577807T>C	ENST00000398571.2	-	11	1349	c.1273A>G	c.(1273-1275)Ata>Gta	p.I425V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	425					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGTCATGTATATACCGACTA	0.348																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(1273-1275)Ata>Gta		ubiquitin specific peptidase 34							120.0	115.0	116.0					2																	61577807		1843	4080	5923	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61577807T>C	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1273A>G	2.37:g.61577807T>C	ENSP00000381577:p.Ile425Val						p.I425V	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		11	1349	-			425					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1273A>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015809	0.54468	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.02216	4.39	6.03	6.03	0.97812	.	0.080576	0.85682	D	0.000000	T	0.03783	0.0107	N	0.24115	0.695	0.58432	D	0.999996	P	0.35745	0.518	P	0.47827	0.558	T	0.59852	-0.7376	10	0.08381	T	0.77	.	16.2389	0.82396	0.0:0.0:0.0:1.0	.	425	Q70CQ2	UBP34_HUMAN	V	273;273;425	ENSP00000381577:I425V	ENSP00000263989:I273V	I	-	1	0	USP34	61431311	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	8.040000	0.89188	2.302000	0.77476	0.533000	0.62120	ATA		0.348	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			9	59	0	0	0	1	0	9	59				
CASC10	399726	broad.mit.edu	37	10	21784749	21784749	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:21784749C>A	ENST00000377113.5	-	2	638	c.191G>T	c.(190-192)cGg>cTg	p.R64L	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	64																	GAGTCGGGTCCGCGCAGCGGC	0.766											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377113.5																			0											c.(190-192)cGg>cTg		cancer susceptibility candidate 10							9.0	11.0	10.0					10																	21784749		2169	4238	6407	SO:0001583	missense	399726							g.chr10:21784749C>A	BC040880	CCDS31163.1	10p12.31	2013-07-17	2013-07-17	2013-07-17	ENSG00000204682	ENSG00000204682			31448	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 114"""	C10orf114		21804547	Standard	NM_001010911		Approved	bA418C1.3	uc001iqn.4	Q5T4H9	OTTHUMG00000017795	ENST00000377113.5:c.191G>T	10.37:g.21784749C>A	ENSP00000366317:p.Arg64Leu		OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	751		p.R64L	NM_001010911.2	NP_001010911.1					2	638	-								A1L4M3	Missense_Mutation	SNP	ENST00000377113.5	37	c.191G>T	CCDS31163.1	.	.	.	.	.	.	.	.	.	.	C	1.634	-0.518171	0.04171	.	.	ENSG00000204682	ENST00000377113	T	0.55588	0.51	3.39	-6.78	0.01721	.	.	.	.	.	T	0.22166	0.0534	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.10497	-1.0627	9	0.35671	T	0.21	.	1.4472	0.02367	0.2056:0.3619:0.1201:0.3125	.	64	Q5T4H9	CJ114_HUMAN	L	64	ENSP00000366317:R64L	ENSP00000366317:R64L	R	-	2	0	C10orf114	21824755	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.361000	0.02597	-1.523000	0.01767	-2.314000	0.00255	CGG		0.766	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047130.2	NM_001010911		7	15	1	0	0.0293803	1	0.0298043	7	15				
RTP5	285093	broad.mit.edu	37	2	242814994	242814994	+	Silent	SNP	C	C	A	rs563820422		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:242814994C>A	ENST00000343216.3	+	2	1315	c.1287C>A	c.(1285-1287)gtC>gtA	p.V429V		NM_173821.2	NP_776182.2																					CTGCTGATGTCCAAGGCAAAG	0.632																																						ENST00000343216.3																			0											c.(1285-1287)gtC>gtA		CXXC finger protein 11							32.0	35.0	34.0					2																	242814994		2026	4169	6195	SO:0001819	synonymous_variant	285093					integral to membrane		g.chr2:242814994C>A																												ENST00000343216.3:c.1287C>A	2.37:g.242814994C>A							p.V429V	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1315	+			429						Silent	SNP	ENST00000343216.3	37	c.1287C>A	CCDS42843.1																																																																																				0.632	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			9	38	1	0	0.000442599	1	0.000478175	9	38				
PCSK5	5125	broad.mit.edu	37	9	78973610	78973610	+	Silent	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:78973610C>G	ENST00000545128.1	+	37	5893	c.5355C>G	c.(5353-5355)ccC>ccG	p.P1785P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1785					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGCCGACCCCAACAAGTCTT	0.532																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(5353-5355)ccC>ccG		proprotein convertase subtilisin/kexin type 5							142.0	134.0	137.0					9																	78973610		876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78973610C>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5355C>G	9.37:g.78973610C>G							p.P1785P	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			37	5893	+			602					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.5355C>G	CCDS55320.1																																																																																				0.532	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	110	0	0	0	1	0	14	110				
EIF4G2	1982	broad.mit.edu	37	11	10820763	10820763	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:10820763T>C	ENST00000526148.1	-	20	3043	c.2533A>G	c.(2533-2535)Aaa>Gaa	p.K845E	EIF4G2_ENST00000339995.5_Missense_Mutation_p.K845E|EIF4G2_ENST00000396525.2_Missense_Mutation_p.K807E|EIF4G2_ENST00000525681.1_Missense_Mutation_p.K845E|SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCTCACCTTTTGGGAAGTTG	0.373																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2533-2535)Aaa>Gaa		eukaryotic translation initiation factor 4 gamma, 2							110.0	106.0	107.0					11																	10820763		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820763T>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2533A>G	11.37:g.10820763T>C	ENSP00000433664:p.Lys845Glu					RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.K845E|EIF4G2_ENST00000396525.2_Missense_Mutation_p.K807E|EIF4G2_ENST00000339995.5_Missense_Mutation_p.K845E	p.K845E	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	3043	-			845			W2.			Missense_Mutation	SNP	ENST00000526148.1	37	c.2533A>G	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.544109	0.86022	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	6.01	6.01	0.97437	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	M	0.77616	2.38	0.53688	D	0.999978	D;D	0.61080	0.989;0.989	D;D	0.79784	0.993;0.993	D	0.91504	0.5221	9	0.56958	D	0.05	.	16.5206	0.84315	0.0:0.0:0.0:1.0	.	845;918	P78344;B4DZF2	IF4G2_HUMAN;.	E	845;845;845;807;918;193;227	ENSP00000433664:K845E;ENSP00000433371:K845E;ENSP00000340281:K845E;ENSP00000379778:K807E;ENSP00000434815:K193E	ENSP00000340281:K845E	K	-	1	0	EIF4G2	10777339	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	8.040000	0.89188	2.299000	0.77371	0.533000	0.62120	AAA		0.373	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		25	52	0	0	0	1	0	25	52				
TLL2	7093	broad.mit.edu	37	10	98165008	98165008	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:98165008C>A	ENST00000357947.3	-	10	1473	c.1248G>T	c.(1246-1248)tgG>tgT	p.W416C	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	416	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGGCTTTTCTCCAGTAACCAT	0.453																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1246-1248)tgG>tgT		tolloid-like 2							127.0	127.0	127.0					10																	98165008		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98165008C>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1248G>T	10.37:g.98165008C>A	ENSP00000350630:p.Trp416Cys					TLL2_ENST00000469598.1_5'UTR	p.W416C	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1473	-		Colorectal(252;0.0846)	416			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1248G>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092136	0.76756	.	.	ENSG00000095587	ENST00000357947	T	0.34275	1.37	5.31	5.31	0.75309	CUB (5);	0.000000	0.41938	D	0.000796	T	0.62672	0.2447	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62044	-0.6937	10	0.45353	T	0.12	.	18.1507	0.89674	0.0:1.0:0.0:0.0	.	416	Q9Y6L7	TLL2_HUMAN	C	416	ENSP00000350630:W416C	ENSP00000350630:W416C	W	-	3	0	TLL2	98154998	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.575000	0.82447	2.764000	0.94973	0.655000	0.94253	TGG		0.453	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			21	90	1	0	5.26018e-13	1	7.43092e-13	21	90				
TMC3	342125	broad.mit.edu	37	15	81625254	81625254	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:81625254G>C	ENST00000359440.5	-	22	2944	c.2809C>G	c.(2809-2811)Ccc>Gcc	p.P937A	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.P938A	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGTGGGGAGGGAGGCTGGCGG	0.577																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2812-2814)Ccc>Gcc		transmembrane channel-like 3							34.0	36.0	35.0					15																	81625254		1943	4105	6048	SO:0001583	missense	342125					integral to membrane		g.chr15:81625254G>C	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2809C>G	15.37:g.81625254G>C	ENSP00000352413:p.Pro937Ala					RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.P937A|RP11-761I4.3_ENST00000560851.1_RNA	p.P938A			Q7Z5M5	TMC3_HUMAN			22	2947	-			937						Missense_Mutation	SNP	ENST00000359440.5	37	c.2812C>G	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	6.641	0.486678	0.12641	.	.	ENSG00000188869	ENST00000359440	T	0.62639	0.01	5.09	-7.49	0.01355	.	2.415380	0.02645	U	0.105740	T	0.41926	0.1180	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22730	-1.0208	10	0.15499	T	0.54	1.0765	8.6606	0.34091	0.5739:0.314:0.1121:0.0	.	937	Q7Z5M5	TMC3_HUMAN	A	937	ENSP00000352413:P937A	ENSP00000352413:P937A	P	-	1	0	TMC3	79412309	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	1.108000	0.31123	-1.399000	0.02063	-0.136000	0.14681	CCC		0.577	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		12	37	0	0	0	1	0	12	37				
RPF1	80135	broad.mit.edu	37	1	84946695	84946695	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:84946695G>A	ENST00000370654.5	+	2	300	c.285G>A	c.(283-285)aaG>aaA	p.K95K	RPF1_ENST00000370656.1_Splice_Site_p.K95K	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	95					rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTGGCGATAAGGTAAATAAAA	0.289																																						ENST00000370654.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.e2+1		ribosome production factor 1 homolog (S. cerevisiae)							77.0	86.0	83.0					1																	84946695		2203	4298	6501	SO:0001630	splice_region_variant	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84946695G>A	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.285+1G>A	1.37:g.84946695G>A						RPF1_ENST00000370656.1_Splice_Site_p.K95_splice	p.K95_splice	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN			2	300	+			95					Q5VSK7|Q6AHX1|Q8WXZ8	Splice_Site	SNP	ENST00000370654.5	37	c.285_splice	CCDS695.1																																																																																				0.289	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065	Silent	18	52	0	0	0	1	0	18	52				
PATZ1	23598	broad.mit.edu	37	22	31737633	31737633	+	Intron	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:31737633C>T	ENST00000266269.5	-	2	1965				PATZ1_ENST00000351933.4_Intron|PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000215919.3_Missense_Mutation_p.E458K	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1						male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGAAGAGGTTCCAGGGGCGGC	0.622																																						ENST00000215919.3																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1372-1374)Gaa>Aaa		POZ (BTB) and AT hook containing zinc finger 1							50.0	54.0	53.0					22																	31737633		2203	4300	6503	SO:0001627	intron_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31737633C>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1335+1249G>A	22.37:g.31737633C>T						PATZ1_ENST00000266269.5_Intron|PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000351933.4_Intron	p.E458K	NM_032051.1	NP_114440.1	Q9HBE1	PATZ1_HUMAN			3	1545	-			0					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1372G>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497073	0.85069	.	.	ENSG00000100105	ENST00000215919	T	0.06933	3.24	5.19	5.19	0.71726	.	.	.	.	.	T	0.07503	0.0189	N	0.19112	0.55	0.25052	N	0.991124	P	0.39424	0.673	P	0.44477	0.451	T	0.12578	-1.0542	9	0.02654	T	1	.	14.0828	0.64937	0.0:1.0:0.0:0.0	.	458	Q9HBE1-4	.	K	458	ENSP00000215919:E458K	ENSP00000215919:E458K	E	-	1	0	PATZ1	30067633	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.321000	0.51999	2.705000	0.92388	0.655000	0.94253	GAA		0.622	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		20	64	0	0	0	1	0	20	64				
ANKRD11	29123	broad.mit.edu	37	16	89347383	89347383	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:89347383C>A	ENST00000301030.4	-	9	6027	c.5567G>T	c.(5566-5568)gGc>gTc	p.G1856V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1856V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1856	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGACGGGAGGCCATAGTCTGG	0.617																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5566-5568)gGc>gTc		ankyrin repeat domain 11							41.0	45.0	44.0					16																	89347383		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89347383C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5567G>T	16.37:g.89347383C>A	ENSP00000301030:p.Gly1856Val					ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1856V	p.G1856V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6027	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1856			Pro-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5567G>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	c	14.35	2.508492	0.44660	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39229	1.09;1.09	4.58	4.58	0.56647	.	0.186442	0.34932	N	0.003567	T	0.33702	0.0872	L	0.29908	0.895	0.80722	D	1	B	0.27997	0.197	B	0.28638	0.092	T	0.10683	-1.0619	10	0.29301	T	0.29	.	17.001	0.86381	0.0:1.0:0.0:0.0	.	1856	Q6UB99	ANR11_HUMAN	V	1856	ENSP00000301030:G1856V;ENSP00000367581:G1856V	ENSP00000301030:G1856V	G	-	2	0	ANKRD11	87874884	0.695000	0.27747	0.993000	0.49108	0.495000	0.33615	2.862000	0.48388	2.100000	0.63781	0.450000	0.29827	GGC		0.617	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		12	45	1	0	1.08611e-07	1	1.3307e-07	12	45				
CHD7	55636	broad.mit.edu	37	8	61748739	61748739	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:61748739G>C	ENST00000423902.2	+	16	4365	c.3886G>C	c.(3886-3888)Gac>Cac	p.D1296H	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1296	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGTGCTGATTGACAAGCTGCT	0.473																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(3886-3888)Gac>Cac		chromodomain helicase DNA binding protein 7							60.0	59.0	59.0					8																	61748739		2021	4196	6217	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61748739G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3886G>C	8.37:g.61748739G>C	ENSP00000392028:p.Asp1296His					CHD7_ENST00000524602.1_Intron	p.D1296H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		16	4365	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1296			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.3886G>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609936	0.87258	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.93189	-3.18	5.8	5.8	0.92144	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	M	0.85945	2.785	0.80722	D	1	P	0.49961	0.93	P	0.55011	0.766	D	0.96573	0.9424	10	0.87932	D	0	-27.5522	20.063	0.97692	0.0:0.0:1.0:0.0	.	1296	Q9P2D1	CHD7_HUMAN	H	1296	ENSP00000392028:D1296H	ENSP00000307304:D1296H	D	+	1	0	CHD7	61911293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	GAC		0.473	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		16	24	0	0	0	1	0	16	24				
DCX	1641	broad.mit.edu	37	X	110653583	110653583	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:110653583G>A	ENST00000338081.3	-	2	458	c.287C>T	c.(286-288)tCc>tTc	p.S96F	DCX_ENST00000356220.3_Missense_Mutation_p.S15F|DCX_ENST00000356915.2_Missense_Mutation_p.S15F|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.S15F|DCX_ENST00000488120.1_Missense_Mutation_p.S15F	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	96					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						CATGTTCCTGGATGTCTTATC	0.517																																						ENST00000338081.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(286-288)tCc>tTc		doublecortin							126.0	114.0	118.0					X																	110653583		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110653583G>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.287C>T	X.37:g.110653583G>A	ENSP00000337697:p.Ser96Phe					DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.S15F|DCX_ENST00000371993.2_Missense_Mutation_p.S15F|DCX_ENST00000356915.2_Missense_Mutation_p.S15F|DCX_ENST00000356220.3_Missense_Mutation_p.S15F	p.S96F	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			2	458	-			96					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.287C>T	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.09|10.09	1.255430|1.255430	0.22965|0.22965	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911	.|T;T;T;T;T;T	.|0.46451	.|1.85;1.85;1.8;1.85;1.85;0.87	5.1|5.1	4.23|4.23	0.50019|0.50019	.|.	.|0.111270	.|0.64402	.|D	.|0.000007	T|T	0.28532|0.28532	0.0706|0.0706	N|N	0.08118|0.08118	0|0	0.48288|0.48288	D|D	0.999629|0.999629	.|P;P	.|0.49961	.|0.93;0.69	.|P;B	.|0.44597	.|0.454;0.335	T|T	0.25222|0.25222	-1.0138|-1.0138	5|10	.|0.72032	.|D	.|0.01	.|.	14.2142|14.2142	0.65783|0.65783	0.0:0.0:0.8499:0.1501|0.0:0.0:0.8499:0.1501	.|.	.|84;96	.|B4DM53;O43602	.|.;DCX_HUMAN	S|F	88|15;15;96;15;15;15	.|ENSP00000349385:S15F;ENSP00000361061:S15F;ENSP00000337697:S96F;ENSP00000348553:S15F;ENSP00000419861:S15F;ENSP00000418811:S15F	.|ENSP00000337697:S96F	P|S	-|-	1|2	0|0	DCX|DCX	110540239|110540239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.422000|6.422000	0.73357|0.73357	1.122000|1.122000	0.41944|0.41944	0.513000|0.513000	0.50165|0.50165	CCA|TCC		0.517	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		27	75	0	0	0	1	0	27	75				
ZNF479	90827	broad.mit.edu	37	7	57188112	57188112	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:57188112G>T	ENST00000331162.4	-	5	1280	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	337					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)			AAGGTTTGAGGACCAGCTAAA	0.448																																						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.(1009-1011)tCc>tAc		zinc finger protein 479							18.0	19.0	18.0					7																	57188112		2042	4223	6265	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188112G>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.1010C>A	7.37:g.57188112G>T	ENSP00000333776:p.Ser337Tyr						p.S337Y	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1280	-			337						Missense_Mutation	SNP	ENST00000331162.4	37	c.1010C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.653917	0.00109	.	.	ENSG00000185177	ENST00000331162	T	0.07908	3.15	1.01	-2.03	0.07365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	M	0.64997	1.995	0.09310	N	1	P	0.34462	0.454	B	0.24394	0.053	T	0.42430	-0.9452	9	0.12766	T	0.61	.	0.3099	0.00286	0.3922:0.2006:0.2058:0.2015	.	337	Q96JC4	ZN479_HUMAN	Y	337	ENSP00000333776:S337Y	ENSP00000333776:S337Y	S	-	2	0	ZNF479	57192054	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.151000	0.00285	-1.509000	0.01798	-1.515000	0.00940	TCC		0.448	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	16	1	0	8.12818e-05	1	8.96159e-05	5	16				
ERICH3	127254	broad.mit.edu	37	1	75038606	75038606	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:75038606C>A	ENST00000326665.5	-	14	3006	c.2788G>T	c.(2788-2790)Gag>Tag	p.E930*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		930	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCCTCTCCCTCCTCCGATGTC	0.552																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2788-2790)Gag>Tag		chromosome 1 open reading frame 173							136.0	138.0	137.0					1																	75038606		2203	4300	6503	SO:0001587	stop_gained	127254							g.chr1:75038606C>A																												ENST00000326665.5:c.2788G>T	1.37:g.75038606C>A	ENSP00000322609:p.Glu930*					C1orf173_ENST00000433746.2_5'UTR	p.E930*	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3006	-			930			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.2788G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	38	7.073391	0.98044	.	.	ENSG00000178965	ENST00000326665	.	.	.	5.1	-4.63	0.03359	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-0.0632	8.0673	0.30667	0.0:0.4761:0.2337:0.2903	.	.	.	.	X	930	.	ENSP00000322609:E930X	E	-	1	0	C1orf173	74811194	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.442000	0.02407	-0.641000	0.05487	-0.471000	0.05019	GAG		0.552	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			31	117	1	0	1.06801e-11	1	1.45696e-11	31	117				
ZNF701	55762	broad.mit.edu	37	19	53086179	53086179	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53086179G>T	ENST00000540331.1	+	5	1290	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.K355N|ZNF701_ENST00000391785.3_Missense_Mutation_p.K289N	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TAGTTCACAAGGCAATTCATA	0.413																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1063-1065)aaG>aaT		zinc finger protein 701							74.0	69.0	70.0					19																	53086179		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086179G>T	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1065G>T	19.37:g.53086179G>T	ENSP00000444339:p.Lys355Asn					CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.K289N|ZNF701_ENST00000301093.2_Missense_Mutation_p.K355N	p.K355N	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1290	+			289					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1065G>T	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442268	0.43326	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.18657	2.2;2.2;2.2	1.98	-0.405	0.12392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20170	0.0485	L	0.45051	1.395	0.19575	N	0.999964	B;P	0.45348	0.356;0.856	B;P	0.47891	0.185;0.56	T	0.14504	-1.0470	9	0.72032	D	0.01	.	3.3945	0.07300	0.2933:0.2174:0.4893:0.0	.	355;289	F5GZM6;Q9NV72	.;ZN701_HUMAN	N	289;355;355	ENSP00000375662:K289N;ENSP00000301093:K355N;ENSP00000444339:K355N	ENSP00000301093:K355N	K	+	3	2	ZNF701	57777991	0.000000	0.05858	0.003000	0.11579	0.145000	0.21501	-0.187000	0.09656	-0.209000	0.10156	0.462000	0.41574	AAG		0.413	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		8	43	1	0	9.70103e-10	1	1.25769e-09	8	43				
CSMD3	114788	broad.mit.edu	37	8	113812446	113812446	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113812446C>A	ENST00000297405.5	-	13	2161	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	CSMD3_ENST00000352409.3_Silent_p.L639L|CSMD3_ENST00000455883.2_Silent_p.L535L|CSMD3_ENST00000343508.3_Silent_p.L599L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	639	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTGAAGGTGCAGCCACATTT	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1915-1917)ctG>ctT		CUB and Sushi multiple domains 3							149.0	131.0	137.0					8																	113812446		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113812446C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1917G>T	8.37:g.113812446C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Silent_p.L639L|CSMD3_ENST00000343508.3_Silent_p.L599L|CSMD3_ENST00000455883.2_Silent_p.L535L	p.L639L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			13	2161	-			639			CUB 3.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.1917G>T	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	61	1	0	6.84511e-11	1	9.10689e-11	32	61				
DNAH5	1767	broad.mit.edu	37	5	13752341	13752341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:13752341C>A	ENST00000265104.4	-	64	11034	c.10930G>T	c.(10930-10932)Gga>Tga	p.G3644*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3644	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGCCTTCCAAGAGAAAGG	0.403									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10930-10932)Gga>Tga		dynein, axonemal, heavy chain 5							144.0	131.0	135.0					5																	13752341		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13752341C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10930G>T	5.37:g.13752341C>A	ENSP00000265104:p.Gly3644*						p.G3644*	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			64	11034	-	Lung NSC(4;0.00476)		3644			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.10930G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	53	21.420128	0.99940	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	X	3644	.	ENSP00000265104:G3644X	G	-	1	0	DNAH5	13805341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.308000	0.78929	2.865000	0.98341	0.655000	0.94253	GGA		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		15	118	1	0	1.5739e-10	1	2.07283e-10	15	118				
GTF2A1	2957	broad.mit.edu	37	14	81646661	81646661	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:81646661T>A	ENST00000553612.1	-	9	1440	c.1037A>T	c.(1036-1038)aAa>aTa	p.K346I	GTF2A1_ENST00000434192.2_Missense_Mutation_p.K307I	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	346					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CCATTTGTTTTTACTTCTGTG	0.313																																						ENST00000553612.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1036-1038)aAa>aTa		general transcription factor IIA, 1, 19/37kDa							88.0	91.0	90.0					14																	81646661		2202	4298	6500	SO:0001583	missense	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81646661T>A	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.1037A>T	14.37:g.81646661T>A	ENSP00000452454:p.Lys346Ile					GTF2A1_ENST00000434192.2_Missense_Mutation_p.K307I	p.K346I	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	9	1440	-			346					Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	c.1037A>T	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097989	0.76870	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.64803	-0.12;-0.12	5.67	5.67	0.87782	Transcription factor IIA, beta-barrel (2);	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.85465	0.1169	10	0.87932	D	0	-26.5848	15.9272	0.79628	0.0:0.0:0.0:1.0	.	346	P52655	TF2AA_HUMAN	I	346;307;307	ENSP00000452454:K346I;ENSP00000409492:K307I	ENSP00000298173:K346I	K	-	2	0	GTF2A1	80716414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.015000	0.88690	2.153000	0.67306	0.533000	0.62120	AAA		0.313	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		14	84	0	0	0	1	0	14	84				
ANKAR	150709	broad.mit.edu	37	2	190554269	190554269	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:190554269A>G	ENST00000520309.1	+	3	706	c.618A>G	c.(616-618)acA>acG	p.T206T	ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000431575.2_Silent_p.T135T|ANKAR_ENST00000313581.4_Silent_p.T206T|ANKAR_ENST00000438402.2_Silent_p.T206T|ANKAR_ENST00000281412.6_5'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	206						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTGATATTACAAAGGATCCAG	0.318																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(616-618)acA>acG		ankyrin and armadillo repeat containing							73.0	82.0	79.0					2																	190554269		2203	4297	6500	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190554269A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.618A>G	2.37:g.190554269A>G						ANKAR_ENST00000431575.2_Silent_p.T135T|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000313581.4_Silent_p.T206T|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000438402.2_Silent_p.T206T	p.T206T	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		3	706	+			206					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.618A>G	CCDS33351.2																																																																																				0.318	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		11	55	0	0	0	1	0	11	55				
WDR17	116966	broad.mit.edu	37	4	177094477	177094477	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:177094477A>T	ENST00000280190.4	+	27	3577	c.3421A>T	c.(3421-3423)Agc>Tgc	p.S1141C	WDR17_ENST00000508596.1_Missense_Mutation_p.S1102C|WDR17_ENST00000507824.2_Missense_Mutation_p.S1116C|WDR17_ENST00000393643.2_Missense_Mutation_p.S1117C			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1141										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGACCTACTGAGCTATATTCG	0.328																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3349-3351)Agc>Tgc		WD repeat domain 17							93.0	88.0	90.0					4																	177094477		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177094477A>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3421A>T	4.37:g.177094477A>T	ENSP00000280190:p.Ser1141Cys					WDR17_ENST00000507824.2_Missense_Mutation_p.S1116C|WDR17_ENST00000280190.4_Missense_Mutation_p.S1141C|WDR17_ENST00000508596.1_Missense_Mutation_p.S1102C	p.S1117C	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	26	3601	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1141					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3349A>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.205114|4.205114	0.79127|0.79127	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.60171	.|0.24;0.27;0.21	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.114348	.|0.64402	.|D	.|0.000009	T|T	0.68091|0.68091	0.2963|0.2963	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.61080	.|0.989;0.989;0.989	.|P;P;P	.|0.53518	.|0.681;0.728;0.728	T|T	0.71777|0.71777	-0.4490|-0.4490	5|10	.|0.59425	.|D	.|0.04	-12.0644|-12.0644	15.7271|15.7271	0.77770|0.77770	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1117;1102;1141	.|E7EP77;E7EQX0;Q8IZU2	.|.;.;WDR17_HUMAN	V|C	375|1102;1117;1141;1117	.|ENSP00000422763:S1102C;ENSP00000377258:S1117C;ENSP00000280190:S1141C	.|ENSP00000280190:S1141C	E|S	+|+	2|1	0|0	WDR17|WDR17	177331471|177331471	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.752000|0.752000	0.42762|0.42762	8.414000|8.414000	0.90238|0.90238	2.123000|2.123000	0.65237|0.65237	0.477000|0.477000	0.44152|0.44152	GAG|AGC		0.328	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			9	9	0	0	0	1	0	9	9				
APOB	338	broad.mit.edu	37	2	21233537	21233537	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:21233537G>T	ENST00000233242.1	-	26	6330	c.6203C>A	c.(6202-6204)tCc>tAc	p.S2068Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2068	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGTTAATGGAGTGAACATC	0.363																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6202-6204)tCc>tAc		apolipoprotein B	Atorvastatin(DB01076)						76.0	88.0	84.0					2																	21233537		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233537G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6203C>A	2.37:g.21233537G>T	ENSP00000233242:p.Ser2068Tyr						p.S2068Y	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6330	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2068			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6203C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	7.829	0.719424	0.15372	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00717	5.79	5.14	2.76	0.32466	.	0.606524	0.15670	N	0.250417	T	0.00637	0.0021	N	0.14661	0.345	0.80722	D	1	B	0.17465	0.022	B	0.19666	0.026	T	0.61426	-0.7065	10	0.72032	D	0.01	.	4.7383	0.12999	0.5461:0.0:0.4539:0.0	.	2068	P04114	APOB_HUMAN	Y	2068	ENSP00000233242:S2068Y	ENSP00000233242:S2068Y	S	-	2	0	APOB	21087042	0.456000	0.25744	0.632000	0.29296	0.271000	0.26615	2.750000	0.47500	0.987000	0.38709	0.561000	0.74099	TCC		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			18	55	1	0	4.75885e-15	1	7.08402e-15	18	55				
MANEA	79694	broad.mit.edu	37	6	96034606	96034606	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:96034606A>G	ENST00000358812.4	+	2	425	c.291A>G	c.(289-291)ccA>ccG	p.P97P	MANEA_ENST00000369293.1_Silent_p.P97P	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	97	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATGAACTACCACCTCTGAACA	0.328																																						ENST00000358812.4																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(289-291)ccA>ccG		mannosidase, endo-alpha							105.0	108.0	107.0					6																	96034606		2203	4300	6503	SO:0001819	synonymous_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96034606A>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.291A>G	6.37:g.96034606A>G						MANEA_ENST00000369293.1_Silent_p.P97P	p.P97P	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	2	425	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	97			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	ENST00000358812.4	37	c.291A>G	CCDS5032.1																																																																																				0.328	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		13	65	0	0	0	1	0	13	65				
LARP1	23367	broad.mit.edu	37	5	154179521	154179521	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:154179521G>T	ENST00000336314.4	+	10	1428	c.1404G>T	c.(1402-1404)ctG>ctT	p.L468L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	545	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAAGGGCCTGTCTGCCAGCC	0.592																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1402-1404)ctG>ctT		La ribonucleoprotein domain family, member 1							61.0	55.0	57.0					5																	154179521		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154179521G>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1404G>T	5.37:g.154179521G>T							p.L468L	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		10	1428	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	545			HTH La-type RNA-binding.		O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.1404G>T	CCDS4328.1																																																																																				0.592	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		6	45	1	0	0.0293803	1	0.0298043	6	45				
OLFML2B	25903	broad.mit.edu	37	1	161953526	161953526	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:161953526C>T	ENST00000294794.3	-	8	2615	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	OLFML2B_ENST00000367938.1_Missense_Mutation_p.R214H|OLFML2B_ENST00000367940.2_Missense_Mutation_p.R732H	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	731	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATAGAGCAGGCGGTCCTTGGG	0.537																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2191-2193)cGc>cAc		olfactomedin-like 2B							270.0	244.0	252.0					1																	161953526		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161953526C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2192G>A	1.37:g.161953526C>T	ENSP00000294794:p.Arg731His					OLFML2B_ENST00000367940.2_Missense_Mutation_p.R732H|OLFML2B_ENST00000367938.1_Missense_Mutation_p.R214H	p.R731H	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2615	-	all_hematologic(112;0.156)		731			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.2192G>A	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801234	0.90538	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.90563	-2.69;-2.69;-2.69	5.6	5.6	0.85130	Olfactomedin-like (3);	.	.	.	.	D	0.93324	0.7872	L	0.53671	1.685	0.45150	D	0.998167	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.985	D	0.93897	0.7185	8	0.87932	D	0	.	17.1051	0.86660	0.0:1.0:0.0:0.0	.	732;731	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	H	731;732;214	ENSP00000294794:R731H;ENSP00000356917:R732H;ENSP00000356915:R214H	ENSP00000294794:R731H	R	-	2	0	OLFML2B	160220150	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.985000	0.70556	2.618000	0.88619	0.655000	0.94253	CGC		0.537	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		40	126	0	0	0	1	0	40	126				
IMPG1	3617	broad.mit.edu	37	6	76657113	76657113	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:76657113G>T	ENST00000369950.3	-	14	2151	c.1962C>A	c.(1960-1962)caC>caA	p.H654Q	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAAGACCCCGTGCACAGCCT	0.443																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1960-1962)caC>caA		interphotoreceptor matrix proteoglycan 1							122.0	111.0	115.0					6																	76657113		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76657113G>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1962C>A	6.37:g.76657113G>T	ENSP00000358966:p.His654Gln					IMPG1_ENST00000369963.3_3'UTR	p.H654Q	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			14	2151	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	654			SEA 2.			Missense_Mutation	SNP	ENST00000369950.3	37	c.1962C>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	0.695	-0.792880	0.02862	.	.	ENSG00000112706	ENST00000369950	T	0.37235	1.21	5.86	-6.06	0.02165	SEA (2);	0.599794	0.16628	N	0.206183	T	0.04861	0.0131	N	0.21448	0.665	0.19575	N	0.999967	B	0.19817	0.039	B	0.15484	0.013	T	0.25641	-1.0126	10	0.22109	T	0.4	.	4.3945	0.11356	0.2828:0.2046:0.4358:0.0768	.	654	Q17R60	IMPG1_HUMAN	Q	654	ENSP00000358966:H654Q	ENSP00000358966:H654Q	H	-	3	2	IMPG1	76713833	0.000000	0.05858	0.000000	0.03702	0.250000	0.25880	-1.744000	0.01832	-1.937000	0.01047	-1.069000	0.02264	CAC		0.443	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		14	35	1	0	2.48551e-13	1	3.54407e-13	14	35				
SIGLECL1	284369	broad.mit.edu	37	19	51770669	51770669	+	Silent	SNP	G	G	A	rs369648100		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:51770669G>A	ENST00000316401.7	+	5	834	c.453G>A	c.(451-453)gcG>gcA	p.A151A	SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Silent_p.A57A|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	515	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										AAGCTGCAGCGATCAGAGCAA	0.468																																						ENST00000316401.7																			0											c.(451-453)gcG>gcA		SIGLEC family like 1		G		0,4406		0,0,2203	117.0	118.0	117.0		453	-6.6	0.0	19		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C19orf75	NM_173635.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		151/198	51770669	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284369							g.chr19:51770669G>A	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.453G>A	19.37:g.51770669G>A						SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Silent_p.A57A	p.A151A	NM_173635.1	NP_775906.1					5	834	+								Q8IYH7	Silent	SNP	ENST00000316401.7	37	c.453G>A	CCDS12827.1																																																																																				0.468	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		36	105	0	0	0	1	0	36	105				
JPH4	84502	broad.mit.edu	37	14	24044921	24044921	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:24044921C>T	ENST00000397118.3	-	4	2026	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Missense_Mutation_p.R375H	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	375					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGCGCTGACGGGCAGCACT	0.692																																						ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1123-1125)cGt>cAt		junctophilin 4							11.0	12.0	12.0					14																	24044921		2178	4281	6459	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24044921C>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1124G>A	14.37:g.24044921C>T	ENSP00000380307:p.Arg375His					JPH4_ENST00000356300.4_Missense_Mutation_p.R375H	p.R375H	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	4	2026	-	all_cancers(95;0.000251)		375					D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1124G>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	.	11.56	1.675872	0.29783	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.60672	0.17;0.17	4.18	3.29	0.37713	.	0.000000	0.30620	U	0.009233	T	0.61540	0.2355	L	0.56199	1.76	0.30290	N	0.790425	D;D	0.71674	0.998;0.998	P;P	0.54346	0.749;0.749	T	0.63985	-0.6513	10	0.87932	D	0	.	9.7206	0.40300	0.0:0.897:0.0:0.103	.	375;375	A8K396;Q96JJ6	.;JPH4_HUMAN	H	375;375;375;376	ENSP00000348648:R375H;ENSP00000380307:R375H	ENSP00000267407:R376H	R	-	2	0	JPH4	23114761	0.982000	0.34865	1.000000	0.80357	0.004000	0.04260	0.534000	0.23098	0.964000	0.38108	-0.144000	0.13903	CGT		0.692	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		6	12	0	0	0	1	0	6	12				
EFNA1	1942	broad.mit.edu	37	1	155106045	155106045	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:155106045G>A	ENST00000368407.3	+	3	972		c.e3+1		SLC50A1_ENST00000368404.4_5'Flank|SLC50A1_ENST00000368401.5_5'Flank|SLC50A1_ENST00000303343.8_5'Flank|EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Intron|SLC50A1_ENST00000484157.1_5'Flank	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1						activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCAAAATCAGTGAGTGTCAG	0.517																																						ENST00000368407.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5						c.e3+1		ephrin-A1							106.0	98.0	101.0					1																	155106045		2203	4300	6503	SO:0001630	splice_region_variant	1942				angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding	g.chr1:155106045G>A		CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.454+1G>A	1.37:g.155106045G>A						EFNA1_ENST00000368406.2_Intron|EFNA1_ENST00000469878.1_3'UTR		NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	972	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)							D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Splice_Site	SNP	ENST00000368407.3	37		CCDS1091.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049929	0.75846	.	.	ENSG00000169242	ENST00000368407	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4251	0.83812	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EFNA1	153372669	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.896000	0.75665	2.826000	0.97356	0.561000	0.74099	.		0.517	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428	Intron	15	66	0	0	0	1	0	15	66				
ZBTB22	9278	broad.mit.edu	37	6	33281481	33281481	+	IGR	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:33281481G>A	ENST00000431845.2	-	0	2651				TAPBP_ENST00000456592.2_Silent_p.L66L|TAPBP_ENST00000426633.2_Silent_p.L66L|TAPBP_ENST00000475304.1_Silent_p.L66L|TAPBP_ENST00000489157.1_Silent_p.L66L|TAPBP_ENST00000434618.2_Silent_p.L66L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGTGTACACTGAGATAGAGCT	0.667																																						ENST00000434618.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(196-198)ctC>ctT		TAP binding protein (tapasin)							23.0	26.0	25.0					6																	33281481		2193	4292	6485	SO:0001628	intergenic_variant	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33281481G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110		6.37:g.33281481G>A						TAPBP_ENST00000489157.1_Silent_p.L66L|TAPBP_ENST00000426633.2_Silent_p.L66L|TAPBP_ENST00000475304.1_Silent_p.L66L|TAPBP_ENST00000456592.2_Silent_p.L66L	p.L66L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN			2	543	-			66					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.198C>T	CCDS4775.1																																																																																				0.667	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			16	44	0	0	0	1	0	16	44				
KRCC1	51315	broad.mit.edu	37	2	88327946	88327946	+	Missense_Mutation	SNP	T	T	C	rs199586521		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:88327946T>C	ENST00000347055.3	-	4	530	c.137A>G	c.(136-138)tAc>tGc	p.Y46C		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	46										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						CTCTCCTTTGTACCCACAGGT	0.413																																						ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(136-138)tAc>tGc		lysine-rich coiled-coil 1							75.0	69.0	71.0					2																	88327946		2203	4300	6503	SO:0001583	missense	51315							g.chr2:88327946T>C	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.137A>G	2.37:g.88327946T>C	ENSP00000340083:p.Tyr46Cys						p.Y46C	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	530	-			46					Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.137A>G	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408560	0.62399	.	.	ENSG00000172086	ENST00000347055	T	0.36699	1.24	5.64	5.64	0.86602	.	0.316561	0.26331	N	0.024992	T	0.56543	0.1992	M	0.70275	2.135	0.34611	D	0.717577	D	0.69078	0.997	D	0.63192	0.912	T	0.70831	-0.4765	10	0.66056	D	0.02	-6.8874	13.8514	0.63499	0.0:0.0:0.0:1.0	.	46	Q9NPI7	KRCC1_HUMAN	C	46	ENSP00000340083:Y46C	ENSP00000340083:Y46C	Y	-	2	0	KRCC1	88109061	0.943000	0.32029	1.000000	0.80357	0.964000	0.63967	1.185000	0.32065	2.163000	0.67991	0.491000	0.48974	TAC		0.413	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		21	36	0	0	0	1	0	21	36				
TRBV5-7	28608	broad.mit.edu	37	7	142111430	142111430	+	RNA	SNP	T	T	A	rs575707823	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:142111430T>A	ENST00000390378.1	-	0	305									T cell receptor beta variable 5-7 (non-functional)																		CCGAGTCCCCTAGCAACAAGG	0.483																																						ENST00000390378.1																			0																				108.0	105.0	106.0					7																	142111430		1891	4111	6002			28608							g.chr7:142111430T>A	L36092		7q34	2012-02-07	2008-09-11		ENSG00000211731	ENSG00000211731		"""T cell receptors / TRB locus"""	12224	other	T cell receptor gene			"""T cell receptor beta variable 5-7"""			8650574	Standard	NG_001333		Approved	TRBV57, TCRBV5S7, TCRBV5S7P			OTTHUMG00000158897		7.37:g.142111430T>A														0	305	-									RNA	SNP	ENST00000390378.1	37																																																																																						0.483	TRBV5-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352509.1	NG_001333		23	102	0	0	0	1	0	23	102				
BRINP3	339479	broad.mit.edu	37	1	190250738	190250738	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:190250738G>A	ENST00000367462.3	-	3	610	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	127	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TTCTTGATAAGGTTTTCTGTG	0.458																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(379-381)Ctt>Ttt									91.0	89.0	90.0					1																	190250738		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190250738G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.379C>T	1.37:g.190250738G>A	ENSP00000356432:p.Leu127Phe					FAM5C_ENST00000484105.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron	p.L127F	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			3	610	-	Prostate(682;0.198)		127					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.379C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221823	0.79464	.	.	ENSG00000162670	ENST00000367462	D	0.81579	-1.51	5.67	5.67	0.87782	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.64402	D	0.000001	T	0.77425	0.4128	L	0.59436	1.845	0.80722	D	1	B	0.15930	0.015	B	0.15484	0.013	T	0.74553	-0.3627	10	0.87932	D	0	.	12.2338	0.54503	0.0:0.0:0.83:0.17	.	127	Q76B58	FAM5C_HUMAN	F	127	ENSP00000356432:L127F	ENSP00000356432:L127F	L	-	1	0	FAM5C	188517361	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.594000	0.61041	2.677000	0.91161	0.585000	0.79938	CTT		0.458	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		8	55	0	0	0	1	0	8	55				
TCF20	6942	broad.mit.edu	37	22	42608932	42608932	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:42608932G>C	ENST00000359486.3	-	1	2516	c.2380C>G	c.(2380-2382)Caa>Gaa	p.Q794E	TCF20_ENST00000335626.4_Missense_Mutation_p.Q794E|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	794					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCATTGGTTTGACTAACCAAG	0.502																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(2380-2382)Caa>Gaa		transcription factor 20 (AR1)							64.0	57.0	60.0					22																	42608932		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42608932G>C	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2380C>G	22.37:g.42608932G>C	ENSP00000352463:p.Gln794Glu					TCF20_ENST00000335626.4_Missense_Mutation_p.Q794E	p.Q794E	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	2516	-			794					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.2380C>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059896	0.55325	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.60424	0.2;0.19	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	T	0.66607	0.2806	N	0.24115	0.695	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.70227	0.968;0.93	T	0.69022	-0.5255	10	0.66056	D	0.02	-10.9902	20.1208	0.97960	0.0:0.0:1.0:0.0	.	794;794	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	E	794	ENSP00000352463:Q794E;ENSP00000335561:Q794E	ENSP00000335561:Q794E	Q	-	1	0	TCF20	40938876	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.716000	0.74702	2.758000	0.94735	0.655000	0.94253	CAA		0.502	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		12	37	0	0	0	1	0	12	37				
SEMA4G	57715	broad.mit.edu	37	10	102743435	102743435	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:102743435C>T	ENST00000370250.4	+	14	2437	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000210633.3_Silent_p.C693C|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	688					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GTGGCCTCTGCCTCATCCTGG	0.652																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2077-2079)tgC>tgT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							58.0	54.0	55.0					10																	102743435		2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743435C>T	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.2064C>T	10.37:g.102743435C>T						SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_Silent_p.C688C|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron	p.C693C			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	2157	+		Colorectal(252;0.234)	688					A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.2079C>T																																																																																					0.652	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			5	14	0	0	0	1	0	5	14				
FGF23	8074	broad.mit.edu	37	12	4479658	4479658	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:4479658G>T	ENST00000237837.1	-	3	752	c.607C>A	c.(607-609)Ccg>Acg	p.P203T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	203					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CAGGAGGCCGGGGCCGGGGTC	0.706																																						ENST00000237837.1																			0				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22						c.(607-609)Ccg>Acg		fibroblast growth factor 23							16.0	20.0	19.0					12																	4479658		2198	4295	6493	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479658G>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.607C>A	12.37:g.4479658G>T	ENSP00000237837:p.Pro203Thr						p.P203T	NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	752	-			203					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.607C>A	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332416	0.24167	.	.	ENSG00000118972	ENST00000237837	D	0.85339	-1.97	3.98	3.05	0.35203	.	0.132084	0.52532	D	0.000074	T	0.69178	0.3082	L	0.29908	0.895	0.09310	N	1	P	0.37781	0.608	B	0.27500	0.08	T	0.58002	-0.7713	10	0.22706	T	0.39	-16.4072	7.3105	0.26471	0.0974:0.1741:0.7285:0.0	.	203	Q9GZV9	FGF23_HUMAN	T	203	ENSP00000237837:P203T	ENSP00000237837:P203T	P	-	1	0	FGF23	4349919	0.167000	0.22975	0.021000	0.16686	0.095000	0.18619	1.544000	0.36158	1.194000	0.43101	0.549000	0.68633	CCG		0.706	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			15	24	1	0	1.15088e-07	1	1.40254e-07	15	24				
OR5M9	390162	broad.mit.edu	37	11	56230731	56230731	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:56230731G>A	ENST00000279791.1	-	1	146	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GCTGAGGACTGATGCTAATCA	0.448																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(145-147)atC>atT		olfactory receptor, family 5, subfamily M, member 9							72.0	71.0	71.0					11																	56230731		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230731G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.147C>T	11.37:g.56230731G>A							p.I49I	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	146	-	Esophageal squamous(21;0.00448)		49					Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.147C>T	CCDS31531.1																																																																																				0.448	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		13	36	0	0	0	1	0	13	36				
B3GAT2	135152	broad.mit.edu	37	6	71571434	71571434	+	Silent	SNP	G	G	T	rs149616588	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:71571434G>T	ENST00000230053.6	-	4	1512	c.904C>A	c.(904-906)Cgg>Agg	p.R302R	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	302					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTCTCTGTCCGAGTGTGCCAC	0.493																																						ENST00000230053.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(904-906)Cgg>Agg		beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)		G	,,	5,4401	9.9+/-24.2	0,5,2198	175.0	157.0	163.0		,,904	4.6	1.0	6	dbSNP_134	163	0,8600		0,0,4300	no	utr-3,utr-3,coding-synonymous	SMAP1,B3GAT2	NM_001044305.1,NM_021940.3,NM_080742.2	,,	0,5,6498	TT,TG,GG		0.0,0.1135,0.0384	,,	,,302/324	71571434	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	135152				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr6:71571434G>T	AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.904C>A	6.37:g.71571434G>T						SMAP1_ENST00000370455.3_3'UTR	p.R302R	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN			4	1512	-			302					Q5JS09|Q8TF38|Q96NK4	Silent	SNP	ENST00000230053.6	37	c.904C>A	CCDS4974.1																																																																																				0.493	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041150.2	NM_080742		14	56	1	0	1.49906e-05	1	1.69153e-05	14	56				
HSP90AB2P	391634	broad.mit.edu	37	4	13338422	13338422	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:13338422C>A	ENST00000602906.1	+	0	440							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						GGAACCATTGCCAAGTTTCGT	0.438																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														391634							g.chr4:13338422C>A	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13338422C>A														0	440	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.438	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			13	26	1	0	4.3838e-07	1	5.24449e-07	13	26				
ADAMTS12	81792	broad.mit.edu	37	5	33577057	33577057	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:33577057G>T	ENST00000504830.1	-	19	3409	c.3074C>A	c.(3073-3075)cCt>cAt	p.P1025H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P940H|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1025	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCTGGATGTAGGTGGAGGGAC	0.537										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3073-3075)cCt>cAt		ADAM metallopeptidase with thrombospondin type 1 motif, 12							144.0	136.0	138.0					5																	33577057		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33577057G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3074C>A	5.37:g.33577057G>T	ENSP00000422554:p.Pro1025His	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P940H	p.P1025H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3409	-			1025			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3074C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	3.802	-0.041411	0.07452	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59638	0.27;0.25	5.01	2.23	0.28157	.	0.388611	0.31156	N	0.008142	T	0.32734	0.0839	N	0.19112	0.55	0.09310	N	0.999998	B;P	0.44877	0.026;0.845	B;B	0.34038	0.03;0.174	T	0.22277	-1.0221	10	0.56958	D	0.05	.	6.2844	0.21025	0.1542:0.0:0.6983:0.1474	.	940;1025	P58397-3;P58397	.;ATS12_HUMAN	H	1025;940	ENSP00000422554:P1025H;ENSP00000344847:P940H	ENSP00000344847:P940H	P	-	2	0	ADAMTS12	33612814	0.989000	0.36119	0.001000	0.08648	0.001000	0.01503	2.684000	0.46951	0.270000	0.21984	-0.137000	0.14449	CCT		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		53	96	1	0	5.82388e-19	1	9.24137e-19	53	96				
TMEM65	157378	broad.mit.edu	37	8	125332407	125332407	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:125332407C>G	ENST00000297632.6	-	6	1075	c.541G>C	c.(541-543)Gct>Cct	p.A181P		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	181						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AACCTGGAAGCCAATGCTTCA	0.368																																						ENST00000297632.6																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(541-543)Gct>Cct		transmembrane protein 65							126.0	111.0	116.0					8																	125332407		2203	4300	6503	SO:0001583	missense	157378					integral to membrane		g.chr8:125332407C>G	BC032396	CCDS6348.1	8q24.13	2006-11-24			ENSG00000164983	ENSG00000164983			25203	protein-coding gene	gene with protein product						12477932	Standard	NM_194291		Approved		uc010mdl.3	Q6PI78	OTTHUMG00000165021	ENST00000297632.6:c.541G>C	8.37:g.125332407C>G	ENSP00000297632:p.Ala181Pro						p.A181P	NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	1075	-	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		181					Q8N5G8|Q8WVK5	Missense_Mutation	SNP	ENST00000297632.6	37	c.541G>C	CCDS6348.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568542	0.65651	.	.	ENSG00000164983	ENST00000297632	T	0.53640	0.61	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	M	0.84683	2.71	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.76639	-0.2885	10	0.66056	D	0.02	.	18.0928	0.89479	0.0:1.0:0.0:0.0	.	181	Q6PI78	TMM65_HUMAN	P	181	ENSP00000297632:A181P	ENSP00000297632:A181P	A	-	1	0	TMEM65	125401588	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	6.524000	0.73791	2.702000	0.92279	0.655000	0.94253	GCT		0.368	TMEM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381464.1	NM_194291		39	71	0	0	0	1	0	39	71				
OR1A1	8383	broad.mit.edu	37	17	3119621	3119621	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:3119621C>T	ENST00000304094.1	+	1	707	c.707C>T	c.(706-708)gCc>gTc	p.A236V		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	236						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGCTCAAGGCCTTCTCCACC	0.478																																						ENST00000304094.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(706-708)gCc>gTc		olfactory receptor, family 1, subfamily A, member 1							204.0	177.0	186.0					17																	3119621		2203	4300	6503	SO:0001583	missense	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119621C>T	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.707C>T	17.37:g.3119621C>T	ENSP00000305207:p.Ala236Val						p.A236V	NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN			1	707	+			236					A5D914|Q6IFM1|Q6NTA9|Q96R87	Missense_Mutation	SNP	ENST00000304094.1	37	c.707C>T	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367862	0.42003	.	.	ENSG00000172146	ENST00000304094	T	0.00342	8.03	5.05	5.05	0.67936	GPCR, rhodopsin-like superfamily (1);	0.127743	0.36268	N	0.002684	T	0.00440	0.0014	M	0.79258	2.445	0.37593	D	0.920263	B	0.28258	0.205	B	0.32289	0.143	T	0.70339	-0.4899	10	0.54805	T	0.06	.	17.1395	0.86749	0.0:1.0:0.0:0.0	.	236	Q9P1Q5	OR1A1_HUMAN	V	236	ENSP00000305207:A236V	ENSP00000305207:A236V	A	+	2	0	OR1A1	3066371	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	2.837000	0.48191	2.632000	0.89209	0.511000	0.50034	GCC		0.478	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		40	113	0	0	0	1	0	40	113				
FAM86EP	348926	broad.mit.edu	37	4	3952919	3952919	+	RNA	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:3952919G>A	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		GACGGCGGGTGCTTCACACAC	0.527																																						ENST00000281228.8																			0																																																			0							g.chr4:3952919G>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3952919G>A						FAM86EP_ENST00000313946.8_RNA								0	188	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.527	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			10	52	0	0	0	1	0	10	52				
TAS1R2	80834	broad.mit.edu	37	1	19181196	19181196	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:19181196G>A	ENST00000375371.3	-	3	789	c.768C>T	c.(766-768)cgC>cgT	p.R256R	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	256					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGTCACCAGGCGCTGGCGCT	0.637																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(766-768)cgC>cgT		taste receptor, type 1, member 2	Aspartame(DB00168)						60.0	53.0	55.0					1																	19181196		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181196G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.768C>T	1.37:g.19181196G>A						RP13-279N23.2_ENST00000494072.3_3'UTR	p.R256R	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	789	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	256					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.768C>T	CCDS187.1																																																																																				0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			8	23	0	0	0	1	0	8	23				
ATP6V1D	51382	broad.mit.edu	37	14	67812559	67812559	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:67812559C>G	ENST00000216442.7	-	6	932	c.382G>C	c.(382-384)Ggg>Cgg	p.G128R	ATP6V1D_ENST00000555474.1_Intron|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.G73R|ATP6V1D_ENST00000554236.1_Missense_Mutation_p.G128R	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	128					cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		AACTGTTCCCCACCTCTGGCT	0.408																																						ENST00000216442.7																			0				lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7						c.(382-384)Ggg>Cgg		ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D							89.0	74.0	79.0					14																	67812559		2203	4300	6503	SO:0001583	missense	51382				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr14:67812559C>G	AF145316	CCDS9780.1	14q23-q24.2	2010-04-21	2002-08-29	2002-05-10	ENSG00000100554	ENSG00000100554		"""ATPases / V-type"""	13527	protein-coding gene	gene with protein product		609398	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"""	ATP6M		9442887	Standard	NM_015994		Approved	VATD, VMA8	uc001xjf.3	Q9Y5K8		ENST00000216442.7:c.382G>C	14.37:g.67812559C>G	ENSP00000216442:p.Gly128Arg					ATP6V1D_ENST00000555474.1_Intron|ATP6V1D_ENST00000554236.1_Missense_Mutation_p.G128R|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.G73R	p.G128R	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN		all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)	6	932	-			128					B2RE33|Q9Y688	Missense_Mutation	SNP	ENST00000216442.7	37	c.382G>C	CCDS9780.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392634	0.96009	.	.	ENSG00000100554	ENST00000216442;ENST00000555431;ENST00000554236;ENST00000555723	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.90662	0.7071	H	0.97415	4	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.92709	0.6181	9	0.87932	D	0	-6.9849	20.8598	0.99761	0.0:1.0:0.0:0.0	.	128	Q9Y5K8	VATD_HUMAN	R	128;73;128;80	.	ENSP00000216442:G128R	G	-	1	0	ATP6V1D	66882312	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.525000	0.81892	2.937000	0.99478	0.650000	0.86243	GGG		0.408	ATP6V1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412511.1	NM_015994		5	43	0	0	0	1	0	5	43				
MAP3K6	9064	broad.mit.edu	37	1	27686011	27686011	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:27686011C>A	ENST00000493901.1	-	19	2561	c.2322G>T	c.(2320-2322)ggG>ggT	p.G774G	MAP3K6_ENST00000357582.2_Silent_p.G774G|MAP3K6_ENST00000374040.3_Silent_p.G766G	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCACATTGTCCCCCTGATTGA	0.567																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(2296-2298)ggG>ggT		mitogen-activated protein kinase kinase kinase 6							116.0	100.0	105.0					1																	27686011		2203	4300	6503	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27686011C>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2322G>T	1.37:g.27686011C>A						MAP3K6_ENST00000493901.1_Silent_p.G774G|MAP3K6_ENST00000357582.2_Silent_p.G774G	p.G766G			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	17	2558	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	774			Protein kinase.		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.2298G>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328886	0.24167	.	.	ENSG00000142733	ENST00000472410	T	0.24538	1.85	5.55	0.0667	0.14362	.	.	.	.	.	T	0.28101	0.0693	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.17992	-1.0351	6	0.87932	D	0	.	1.9961	0.03457	0.127:0.444:0.1239:0.3051	.	.	.	.	V	498	ENSP00000418731:G498V	ENSP00000418731:G498V	G	-	2	0	MAP3K6	27558598	0.607000	0.26958	0.996000	0.52242	0.885000	0.51271	-0.213000	0.09305	-0.121000	0.11787	-0.136000	0.14681	GGG		0.567	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		9	42	1	0	2.74318e-10	1	3.59207e-10	9	42				
SRPX2	27286	broad.mit.edu	37	X	99917255	99917255	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:99917255C>T	ENST00000373004.3	+	4	674	c.246C>T	c.(244-246)agC>agT	p.S82S		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	82	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATCACAGCAGCCTGGGCACGC	0.522																																						ENST00000373004.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(244-246)agC>agT		sushi-repeat containing protein, X-linked 2							130.0	104.0	113.0					X																	99917255		2203	4300	6503	SO:0001819	synonymous_variant	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99917255C>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.246C>T	X.37:g.99917255C>T							p.S82S	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN			4	674	+			82			Sushi 1.		B3KQT3|Q8WW85	Silent	SNP	ENST00000373004.3	37	c.246C>T	CCDS14471.1																																																																																				0.522	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		24	65	0	0	0	1	0	24	65				
CSMD3	114788	broad.mit.edu	37	8	113237019	113237019	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113237019G>A	ENST00000297405.5	-	71	11349	c.11105C>T	c.(11104-11106)aCg>aTg	p.T3702M	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3632M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3533M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3662M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3702						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGCAAACCGTGTTCAAGTT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(11104-11106)aCg>aTg		CUB and Sushi multiple domains 3							372.0	312.0	332.0					8																	113237019		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113237019G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.11105C>T	8.37:g.113237019G>A	ENSP00000297405:p.Thr3702Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.T3632M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3662M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3533M	p.T3702M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			71	11349	-			3702					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.11105C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132983	0.77662	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.38722	1.47;1.46;1.55;1.12;1.51	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.66548	0.2800	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.983	T	0.68356	-0.5430	10	0.87932	D	0	.	19.7537	0.96281	0.0:0.0:1.0:0.0	.	3533;3702;3662	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	3662;3702;2972;3533;3632	ENSP00000345799:T3662M;ENSP00000297405:T3702M;ENSP00000341558:T2972M;ENSP00000412263:T3533M;ENSP00000343124:T3632M	ENSP00000297405:T3702M	T	-	2	0	CSMD3	113306195	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.715000	0.98748	2.736000	0.93811	0.591000	0.81541	ACG		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		57	130	0	0	0	1	0	57	130				
OR4K13	390433	broad.mit.edu	37	14	20502751	20502751	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20502751T>C	ENST00000315693.2	-	1	168	c.167A>G	c.(166-168)cAc>cGc	p.H56R	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CATTGGTGTGTGAAGGAGCGA	0.438																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(166-168)cAc>cGc		olfactory receptor, family 4, subfamily K, member 13							113.0	102.0	106.0					14																	20502751		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502751T>C		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.167A>G	14.37:g.20502751T>C	ENSP00000319322:p.His56Arg						p.H56R	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	168	-	all_cancers(95;0.00108)		56					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.167A>G	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	11.93	1.785636	0.31593	.	.	ENSG00000176253	ENST00000315693	T	0.15952	2.38	3.75	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.174643	0.27035	U	0.021248	T	0.26122	0.0637	M	0.86740	2.835	0.29037	N	0.885351	B	0.24963	0.115	B	0.22386	0.039	T	0.25117	-1.0141	10	0.72032	D	0.01	.	11.5713	0.50834	0.0:0.0:0.0:1.0	.	56	Q8NH42	OR4KD_HUMAN	R	56	ENSP00000319322:H56R	ENSP00000319322:H56R	H	-	2	0	OR4K13	19572591	0.978000	0.34361	0.068000	0.19968	0.002000	0.02628	2.364000	0.44187	1.572000	0.49736	0.438000	0.28831	CAC		0.438	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			11	45	0	0	0	1	0	11	45				
CLCNKA	1187	broad.mit.edu	37	1	16351351	16351351	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:16351351C>T	ENST00000331433.4	+	4	342	c.323C>T	c.(322-324)tCa>tTa	p.S108L	CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000375692.1_Missense_Mutation_p.S108L|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S108L			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	108					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCTTTCTCCTCAGGCTTCTCC	0.607																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(322-324)tCa>tTa		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						138.0	105.0	116.0					1																	16351351		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16351351C>T		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.323C>T	1.37:g.16351351C>T	ENSP00000332771:p.Ser108Leu					CLCNKA_ENST00000439316.2_Intron|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S108L|CLCNKA_ENST00000464764.1_Intron|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S108L	p.S108L			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	5	451	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	108					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.323C>T	CCDS167.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991389	0.74703	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000331433	D;D;D	0.94650	-3.48;-3.48;-3.48	4.0	4.0	0.46444	Chloride channel, core (2);	0.280656	0.34245	N	0.004136	D	0.95082	0.8407	M	0.62723	1.935	0.80722	D	1	P;P	0.42649	0.786;0.786	P;P	0.51945	0.622;0.685	D	0.95418	0.8504	10	0.72032	D	0.01	.	13.2727	0.60170	0.0:1.0:0.0:0.0	.	108;108	Q5T5Q4;P51800	.;CLCKA_HUMAN	L	108	ENSP00000364844:S108L;ENSP00000410353:S108L;ENSP00000332771:S108L	ENSP00000332771:S108L	S	+	2	0	CLCNKA	16223938	0.847000	0.29606	0.997000	0.53966	0.336000	0.28762	5.174000	0.65015	2.220000	0.72140	0.462000	0.41574	TCA		0.607	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			15	38	0	0	0	1	0	15	38				
NOD2	64127	broad.mit.edu	37	16	50746062	50746062	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:50746062A>T	ENST00000300589.2	+	4	2345	c.2240A>T	c.(2239-2241)tAc>tTc	p.Y747F	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	747					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGGAGCCTGTACGAGATGCAG	0.622																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2239-2241)tAc>tTc		nucleotide-binding oligomerization domain containing 2							71.0	56.0	61.0					16																	50746062		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50746062A>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2240A>T	16.37:g.50746062A>T	ENSP00000300589:p.Tyr747Phe						p.Y747F	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	2345	+		all_cancers(37;0.0156)	747					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2240A>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.302246	0.40694	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.70749	-0.51	5.47	4.36	0.52297	.	0.109449	0.41605	N	0.000860	T	0.77280	0.4107	M	0.76002	2.32	0.42671	D	0.993516	P;D;P	0.65815	0.908;0.995;0.948	B;P;B	0.60682	0.397;0.878;0.397	T	0.75385	-0.3336	10	0.40728	T	0.16	.	4.8098	0.13339	0.7469:0.0:0.0869:0.1662	.	531;720;747	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	F	720;747	ENSP00000300589:Y747F	ENSP00000300589:Y747F	Y	+	2	0	NOD2	49303563	1.000000	0.71417	0.370000	0.25965	0.279000	0.26890	4.434000	0.59935	0.880000	0.35969	0.459000	0.35465	TAC		0.622	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		32	43	0	0	0	1	0	32	43				
DBX1	120237	broad.mit.edu	37	11	20180737	20180737	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:20180737C>A	ENST00000524983.2	-	2	757	c.469G>T	c.(469-471)Gct>Tct	p.A157S	DBX1_ENST00000227256.3_Splice_Site_p.A157S			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	157					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CGAGACCTACCTGGGAAATAA	0.612																																						ENST00000524983.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.e2+1		developing brain homeobox 1							93.0	92.0	92.0					11																	20180737		2203	4300	6503	SO:0001630	splice_region_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20180737C>A			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.469+1G>T	11.37:g.20180737C>A						DBX1_ENST00000227256.3_Splice_Site_p.A157_splice	p.A157_splice			A6NMT0	DBX1_HUMAN			2	757	-			157						Splice_Site	SNP	ENST00000524983.2	37	c.469_splice		.	.	.	.	.	.	.	.	.	.	C	16.93	3.257736	0.59321	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.92397	-3.03;0.04	5.74	5.74	0.90152	.	0.052325	0.85682	D	0.000000	D	0.93096	0.7802	L	0.44542	1.39	0.80722	D	1	D	0.60575	0.988	P	0.55545	0.778	D	0.91719	0.5387	9	.	.	.	-21.4499	19.9179	0.97070	0.0:1.0:0.0:0.0	.	157	F8W811	.	S	157	ENSP00000436881:A157S;ENSP00000227256:A157S	.	A	-	1	0	DBX1	20137313	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.748000	0.85085	2.723000	0.93209	0.655000	0.94253	GCT		0.612	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865	Missense_Mutation	12	65	1	0	1.08611e-07	1	1.3307e-07	12	65				
LOC283683	283683	broad.mit.edu	37	15	23108851	23108851	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:23108851C>A	ENST00000557922.1	-	0	278					NR_040057.1																						TCATTCAGATCTTCTTTCTTT	0.408																																						ENST00000557922.1																			0																																																			283683							g.chr15:23108851C>A																													15.37:g.23108851C>A								NR_040057.1						0	278	-									RNA	SNP	ENST00000557922.1	37																																																																																						0.408	RP11-566K19.6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415896.1			9	34	1	0	1.58986e-06	1	1.87019e-06	9	34				
PRR30	339779	broad.mit.edu	37	2	27360866	27360866	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:27360866G>C	ENST00000335524.3	-	3	857	c.332C>G	c.(331-333)tCc>tGc	p.S111C		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		111	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ggagggagaggatgcacgtgg	0.562																																						ENST00000335524.3																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20						c.(331-333)tCc>tGc		chromosome 2 open reading frame 53							51.0	50.0	50.0					2																	27360866		2203	4300	6503	SO:0001583	missense	339779							g.chr2:27360866G>C																												ENST00000335524.3:c.332C>G	2.37:g.27360866G>C	ENSP00000335017:p.Ser111Cys						p.S111C	NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN			3	857	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		111			Pro-rich.		Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.332C>G	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	g	13.52	2.260272	0.39995	.	.	ENSG00000186143	ENST00000335524	T	0.35605	1.3	4.82	-0.97	0.10306	.	2.554050	0.01901	N	0.039239	T	0.29588	0.0738	L	0.29908	0.895	0.09310	N	1	P	0.42123	0.771	B	0.42555	0.391	T	0.22208	-1.0223	10	0.44086	T	0.13	-1.5372	5.2756	0.15647	0.17:0.0:0.4186:0.4114	.	111	Q53SZ7	CB053_HUMAN	C	111	ENSP00000335017:S111C	ENSP00000335017:S111C	S	-	2	0	C2orf53	27214370	0.050000	0.20438	0.001000	0.08648	0.000000	0.00434	0.335000	0.19806	0.093000	0.17368	-1.162000	0.01777	TCC		0.562	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			9	18	0	0	0	1	0	9	18				
IL7R	3575	broad.mit.edu	37	5	35876532	35876532	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:35876532G>A	ENST00000303115.3	+	8	1453	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	442					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TACTTCCCTGGGATCAAATCA	0.478			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(1324-1326)Gga>Aga		interleukin 7 receptor							49.0	45.0	46.0					5																	35876532		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35876532G>A	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1324G>A	5.37:g.35876532G>A	ENSP00000306157:p.Gly442Arg					IL7R_ENST00000343305.4_3'UTR	p.G442R	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		8	1453	+	all_lung(31;0.00015)		442					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.1324G>A	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726753	0.30593	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.48836	2.02;0.8	5.57	1.29	0.21616	.	1.567690	0.03541	N	0.223882	T	0.41351	0.1155	L	0.46157	1.445	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.16928	-1.0386	10	0.19147	T	0.46	-4.3365	8.106	0.30885	0.3806:0.0:0.6194:0.0	.	442	P16871	IL7RA_HUMAN	R	442;208	ENSP00000306157:G442R;ENSP00000420923:G208R	ENSP00000306157:G442R	G	+	1	0	IL7R	35912289	0.053000	0.20554	0.006000	0.13384	0.153000	0.21895	0.546000	0.23284	0.322000	0.23283	0.561000	0.74099	GGA		0.478	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			8	56	0	0	0	1	0	8	56				
GABRP	2568	broad.mit.edu	37	5	170222388	170222388	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:170222388C>A	ENST00000518525.1	+	6	881	c.417C>A	c.(415-417)ctC>ctA	p.L139L	GABRP_ENST00000519385.1_Silent_p.L139L|GABRP_ENST00000519598.1_Silent_p.L139L|GABRP_ENST00000265294.4_Silent_p.L139L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	139					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAAACAGGCTCATCCGCCTCT	0.572																																						ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(415-417)ctC>ctA		gamma-aminobutyric acid (GABA) A receptor, pi							99.0	91.0	94.0					5																	170222388		2203	4300	6503	SO:0001819	synonymous_variant	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170222388C>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.417C>A	5.37:g.170222388C>A						GABRP_ENST00000265294.4_Silent_p.L139L|GABRP_ENST00000519598.1_Silent_p.L139L|GABRP_ENST00000519385.1_Silent_p.L139L	p.L139L			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	881	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	139					A8KA36|D3DQL2|Q32MJ1	Silent	SNP	ENST00000518525.1	37	c.417C>A	CCDS4375.1																																																																																				0.572	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		16	73	1	0	1.5739e-10	1	2.07283e-10	16	73				
SLC7A3	84889	broad.mit.edu	37	X	70147853	70147853	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:70147853G>A	ENST00000374299.3	-	6	982	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	SLC7A3_ENST00000298085.4_Missense_Mutation_p.P280S			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	280					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GAACGCTGGGGATTCTGGGCT	0.527																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(838-840)Ccc>Tcc		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						121.0	105.0	111.0					X																	70147853		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70147853G>A	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.838C>T	X.37:g.70147853G>A	ENSP00000363417:p.Pro280Ser					SLC7A3_ENST00000298085.4_Missense_Mutation_p.P280S	p.P280S			Q8WY07	CTR3_HUMAN			6	982	-	Renal(35;0.156)		280					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.838C>T	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798134	0.50208	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.91180	-2.8;-2.8	5.25	5.25	0.73442	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	H	0.98314	4.2	0.80722	D	1	D	0.63880	0.993	D	0.77004	0.989	D	0.98871	1.0766	10	0.72032	D	0.01	.	16.8024	0.85617	0.0:0.0:1.0:0.0	.	280	Q8WY07	CTR3_HUMAN	S	280	ENSP00000363417:P280S;ENSP00000298085:P280S	ENSP00000298085:P280S	P	-	1	0	SLC7A3	70064578	1.000000	0.71417	0.963000	0.40424	0.127000	0.20565	9.489000	0.97949	2.433000	0.82419	0.529000	0.55759	CCC		0.527	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		9	30	0	0	0	1	0	9	30				
EIF4G3	8672	broad.mit.edu	37	1	21137234	21137234	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:21137234C>T	ENST00000264211.8	-	30	4767	c.4573G>A	c.(4573-4575)Gcc>Acc	p.A1525T	EIF4G3_ENST00000536266.1_Missense_Mutation_p.A1129T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A1245T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A1015T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A1531T|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A1531T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A1525T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1525	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AACTTACTGGCAGGTTGATCA	0.393																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(4591-4593)Gcc>Acc		eukaryotic translation initiation factor 4 gamma, 3							150.0	130.0	137.0					1																	21137234		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21137234C>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4573G>A	1.37:g.21137234C>T	ENSP00000264211:p.Ala1525Thr					EIF4G3_ENST00000536266.1_Missense_Mutation_p.A1129T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A1531T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A1245T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A1525T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A1015T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A1525T	p.A1531T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	34	5174	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1525			EIF4A-binding (By similarity).|W2.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.4591G>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536039	0.85812	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.88	5.88	0.94601	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.112000	0.64402	D	0.000011	D	0.88306	0.6401	L	0.59436	1.845	0.80722	D	1	D;D;P;P;D	0.67145	0.996;0.965;0.735;0.939;0.973	D;P;P;P;P	0.65443	0.935;0.854;0.624;0.724;0.848	D	0.87116	0.2188	10	0.42905	T	0.14	.	14.6004	0.68438	0.0:0.7427:0.2573:0.0	.	1720;1245;1129;1531;1525	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	T	1525;1721;1525;1245;1015;1531;1129	ENSP00000264211:A1525T;ENSP00000383274:A1525T;ENSP00000364071:A1245T;ENSP00000442010:A1015T;ENSP00000364073:A1531T;ENSP00000444693:A1129T	ENSP00000264211:A1525T	A	-	1	0	EIF4G3	21009821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.902000	0.56310	2.781000	0.95711	0.591000	0.81541	GCC		0.393	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		16	50	0	0	0	1	0	16	50				
ZC3HAV1	56829	broad.mit.edu	37	7	138764702	138764702	+	Silent	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:138764702T>G	ENST00000242351.5	-	4	1301	c.985A>C	c.(985-987)Agg>Cgg	p.R329R	ZC3HAV1_ENST00000464606.1_Silent_p.R329R|ZC3HAV1_ENST00000471652.1_Silent_p.R329R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	329					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TCTAAAAACCTCTGGCTTGTC	0.547																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(985-987)Agg>Cgg		zinc finger CCCH-type, antiviral 1							64.0	63.0	63.0					7																	138764702		2203	4300	6503	SO:0001819	synonymous_variant	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138764702T>G	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.985A>C	7.37:g.138764702T>G						ZC3HAV1_ENST00000471652.1_Silent_p.R329R|ZC3HAV1_ENST00000464606.1_Silent_p.R329R	p.R329R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			4	1301	-			329					A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Silent	SNP	ENST00000242351.5	37	c.985A>C	CCDS5851.1																																																																																				0.547	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		19	58	0	0	0	1	0	19	58				
NR5A2	2494	broad.mit.edu	37	1	200143148	200143148	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:200143148C>T	ENST00000367362.3	+	8	1682	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	NR5A2_ENST00000544748.1_Missense_Mutation_p.A407V|NR5A2_ENST00000236914.3_Missense_Mutation_p.A433V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	479					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CAAGTCAATGCCGCCCTGCTG	0.428																																					Melanoma(179;1138 2773 15678 26136)	ENST00000367362.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1435-1437)gCc>gTc		nuclear receptor subfamily 5, group A, member 2							40.0	36.0	38.0					1																	200143148		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200143148C>T	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1436C>T	1.37:g.200143148C>T	ENSP00000356331:p.Ala479Val					NR5A2_ENST00000236914.3_Missense_Mutation_p.A433V|NR5A2_ENST00000544748.1_Missense_Mutation_p.A407V	p.A479V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN			8	1682	+	Prostate(682;0.19)		479					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.1436C>T	CCDS1401.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696227	0.68386	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.96802	-4.13;-4.13;-4.13	5.88	4.95	0.65309	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.92388	0.7584	L	0.37850	1.14	0.80722	D	1	P;P	0.43352	0.804;0.662	B;B	0.34418	0.182;0.128	D	0.91217	0.5003	9	.	.	.	.	16.2623	0.82552	0.1337:0.8663:0.0:0.0	.	433;479	F1D8R9;O00482	.;NR5A2_HUMAN	V	479;433;407	ENSP00000356331:A479V;ENSP00000236914:A433V;ENSP00000439116:A407V	.	A	+	2	0	NR5A2	198409771	1.000000	0.71417	0.009000	0.14445	0.536000	0.34869	7.811000	0.86092	1.445000	0.47624	0.650000	0.86243	GCC		0.428	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			4	12	0	0	0	1	0	4	12				
FTMT	94033	broad.mit.edu	37	5	121187881	121187881	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:121187881G>T	ENST00000321339.1	+	1	232	c.223G>T	c.(223-225)Gac>Tac	p.D75Y		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	75	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTCCACCCCGACTCCGAGGC	0.687																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(223-225)Gac>Tac		ferritin mitochondrial							56.0	47.0	50.0					5																	121187881		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187881G>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.223G>T	5.37:g.121187881G>T	ENSP00000313691:p.Asp75Tyr						p.D75Y	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	232	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	75			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.223G>T	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517834	0.64634	.	.	ENSG00000181867	ENST00000321339	T	0.69175	-0.38	3.57	3.57	0.40892	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.124398	0.51477	D	0.000084	D	0.86108	0.5854	H	0.96970	3.915	0.52501	D	0.999955	D	0.76494	0.999	D	0.67382	0.951	D	0.90450	0.4438	10	0.87932	D	0	.	13.4949	0.61419	0.0:0.0:1.0:0.0	.	75	Q8N4E7	FTMT_HUMAN	Y	75	ENSP00000313691:D75Y	ENSP00000313691:D75Y	D	+	1	0	FTMT	121215780	1.000000	0.71417	0.072000	0.20136	0.641000	0.38312	8.831000	0.92068	2.294000	0.77228	0.655000	0.94253	GAC		0.687	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		10	41	1	0	2.80697e-09	1	3.59828e-09	10	41				
ZFAT	57623	broad.mit.edu	37	8	135649725	135649725	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:135649725C>T	ENST00000377838.3	-	3	601	c.427G>A	c.(427-429)Ggt>Agt	p.G143S	ZFAT_ENST00000523399.1_Missense_Mutation_p.G143S|ZFAT_ENST00000429442.2_Missense_Mutation_p.G131S|ZFAT_ENST00000520356.1_Missense_Mutation_p.G131S|ZFAT_ENST00000520727.1_Missense_Mutation_p.G131S|ZFAT_ENST00000520214.1_Missense_Mutation_p.G131S	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	143					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCCTCCTCACCCAAATTCAGC	0.502																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(391-393)Ggt>Agt		zinc finger and AT hook domain containing							100.0	106.0	104.0					8																	135649725		2068	4192	6260	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135649725C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.427G>A	8.37:g.135649725C>T	ENSP00000367069:p.Gly143Ser					ZFAT_ENST00000520214.1_Missense_Mutation_p.G131S|ZFAT_ENST00000523399.1_Missense_Mutation_p.G143S|ZFAT_ENST00000520356.1_Missense_Mutation_p.G131S|ZFAT_ENST00000429442.2_Missense_Mutation_p.G131S|ZFAT_ENST00000377838.3_Missense_Mutation_p.G143S	p.G131S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		4	690	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		143					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.391G>A	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470092	0.63625	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257;ENST00000518191	T;T;T;T;T;T;T;T	0.45276	2.97;2.9;2.91;2.9;2.9;2.92;0.9;1.45	5.15	5.15	0.70609	Zinc finger, C2H2 (1);	0.076922	0.52532	D	0.000067	T	0.43897	0.1268	L	0.29908	0.895	0.25332	N	0.989023	B;P;P;P	0.52061	0.0;0.799;0.95;0.798	B;B;P;B	0.52066	0.0;0.162;0.689;0.3	T	0.32052	-0.9921	10	0.26408	T	0.33	-14.4776	17.6135	0.88061	0.0:1.0:0.0:0.0	.	143;131;131;143	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	S	131;131;131;143;131;131;143;131;81;131	ENSP00000427879:G131S;ENSP00000427831:G131S;ENSP00000394501:G131S;ENSP00000367069:G143S;ENSP00000428483:G131S;ENSP00000429091:G143S;ENSP00000429983:G81S;ENSP00000428192:G131S	ENSP00000326997:G131S	G	-	1	0	ZFAT	135718907	0.997000	0.39634	0.958000	0.39756	0.991000	0.79684	5.337000	0.65941	2.402000	0.81655	0.561000	0.74099	GGT		0.502	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		30	98	0	0	0	1	0	30	98				
IGLC7	28834	broad.mit.edu	37	22	23264942	23264942	+	RNA	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:23264942A>T	ENST00000390331.2	+	0	177				IGLJ7_ENST00000390330.2_RNA			A0M8Q6	LAC7_HUMAN	immunoglobulin lambda constant 7						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CAAACCCTCCAAACAAAGCAA	0.597																																						ENST00000390331.1																			0																				83.0	86.0	85.0					22																	23264942		2203	4300	6503			28834							g.chr22:23264942A>T	X51755		22q11.2	2012-02-08			ENSG00000211685	ENSG00000211685		"""Immunoglobulins / IGL locus"""	5861	other	immunoglobulin gene							Standard	NG_000002		Approved			A0M8Q6	OTTHUMG00000151017		22.37:g.23264942A>T														0	177	+									RNA	SNP	ENST00000390331.2	37																																																																																						0.597	IGLC7-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000320966.4	NG_000002		14	50	0	0	0	1	0	14	50				
RAB3IP	117177	broad.mit.edu	37	12	70149189	70149189	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:70149189A>G	ENST00000550536.1	+	2	506	c.49A>G	c.(49-51)Atg>Gtg	p.M17V	RAB3IP_ENST00000483530.2_Start_Codon_SNP_p.M1V|RAB3IP_ENST00000247833.7_Start_Codon_SNP_p.M1V|RAB3IP_ENST00000362025.5_Missense_Mutation_p.M17V|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Start_Codon_SNP_p.M1V	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1			RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCTTTTGCTATGGCTAATGA	0.338																																						ENST00000550536.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(49-51)Atg>Gtg		RAB3A interacting protein							89.0	82.0	85.0					12																	70149189		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70149189A>G		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000550536.1:c.49A>G	12.37:g.70149189A>G	ENSP00000447300:p.Met17Val					RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Start_Codon_SNP_p.M1V|RAB3IP_ENST00000378815.6_Start_Codon_SNP_p.M1V|RAB3IP_ENST00000362025.5_Missense_Mutation_p.M17V|RAB3IP_ENST00000247833.7_Start_Codon_SNP_p.M1V	p.M17V	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		2	506	+	Esophageal squamous(21;0.187)		17						Missense_Mutation	SNP	ENST00000550536.1	37	c.49A>G	CCDS8993.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.906572	0.52333	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.50548	0.78;0.74	5.93	4.79	0.61399	.	0.071673	0.85682	D	0.000000	T	0.54532	0.1864	L	0.32530	0.975	0.80722	D	1	D;P;P;P	0.57257	0.979;0.865;0.917;0.917	P;P;D;D	0.63488	0.64;0.824;0.915;0.915	T	0.57142	-0.7862	10	0.87932	D	0	.	11.8639	0.52482	0.9321:0.0:0.0679:0.0	.	17;17;1;1	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	V	1;1;1;1;17;17	ENSP00000247833:M1V;ENSP00000447300:M17V	ENSP00000247833:M1V	M	+	1	0	RAB3IP	68435456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.170000	0.77587	1.079000	0.41038	0.533000	0.62120	ATG		0.338	RAB3IP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280669.2	NM_022456		7	43	0	0	0	1	0	7	43				
GAS2L3	283431	broad.mit.edu	37	12	101017443	101017443	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:101017443C>T	ENST00000539410.1	+	9	1246	c.860C>T	c.(859-861)aCa>aTa	p.T287I	GAS2L3_ENST00000537247.1_Missense_Mutation_p.T183I|GAS2L3_ENST00000547754.1_Missense_Mutation_p.T287I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.T287I			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	287					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGTTTGCCACATTAGAACAA	0.403																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(547-549)aCa>aTa		growth arrest-specific 2 like 3							92.0	95.0	94.0					12																	101017443		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017443C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.860C>T	12.37:g.101017443C>T	ENSP00000439672:p.Thr287Ile					GAS2L3_ENST00000266754.5_Missense_Mutation_p.T287I|GAS2L3_ENST00000539410.1_Missense_Mutation_p.T287I|GAS2L3_ENST00000547754.1_Missense_Mutation_p.T287I	p.T183I			Q86XJ1	GA2L3_HUMAN			10	1502	+			287					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.548C>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481337	0.84747	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.47	5.47	0.80525	Growth-arrest-specific protein 2 domain (2);	0.056444	0.64402	D	0.000001	T	0.51839	0.1698	M	0.69823	2.125	0.53688	D	0.999971	D	0.76494	0.999	D	0.75484	0.986	T	0.41980	-0.9478	10	0.34782	T	0.22	-22.6481	19.3291	0.94278	0.0:1.0:0.0:0.0	.	287	Q86XJ1	GA2L3_HUMAN	I	287;287;183;287	ENSP00000266754:T287I;ENSP00000448955:T287I;ENSP00000442406:T183I;ENSP00000439672:T287I	ENSP00000266754:T287I	T	+	2	0	GAS2L3	99541574	1.000000	0.71417	0.991000	0.47740	0.793000	0.44817	4.483000	0.60264	2.582000	0.87167	0.655000	0.94253	ACA		0.403	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		14	66	0	0	0	1	0	14	66				
PPP1R9A	55607	broad.mit.edu	37	7	94540364	94540364	+	Silent	SNP	C	C	A	rs201438530		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:94540364C>A	ENST00000433881.1	+	2	1471	c.939C>A	c.(937-939)ccC>ccA	p.P313P	PPP1R9A_ENST00000433360.1_Silent_p.P313P|PPP1R9A_ENST00000340694.4_Silent_p.P313P|PPP1R9A_ENST00000424654.1_Silent_p.P313P|PPP1R9A_ENST00000456331.2_Silent_p.P313P|PPP1R9A_ENST00000289495.5_Silent_p.P313P			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	313					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AACAGACTCCCGACAGCATTG	0.473										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(937-939)ccC>ccA		protein phosphatase 1, regulatory subunit 9A							55.0	56.0	55.0					7																	94540364		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540364C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.939C>A	7.37:g.94540364C>A		HNSCC(28;0.073)				PPP1R9A_ENST00000433881.1_Silent_p.P313P|PPP1R9A_ENST00000424654.1_Silent_p.P313P|PPP1R9A_ENST00000340694.4_Silent_p.P313P|PPP1R9A_ENST00000433360.1_Silent_p.P313P|PPP1R9A_ENST00000456331.2_Silent_p.P313P	p.P313P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	1155	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		313					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.939C>A	CCDS34683.1																																																																																				0.473	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		10	47	1	0	1.76689e-08	1	2.20922e-08	10	47				
OR2L13	284521	broad.mit.edu	37	1	248263219	248263219	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248263219C>A	ENST00000358120.2	+	2	687	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	OR2L13_ENST00000366478.2_Missense_Mutation_p.P181Q			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGCGATGTCCCAGCCATGTTG	0.458																																						ENST00000366478.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(541-543)cCa>cAa		olfactory receptor, family 2, subfamily L, member 13							270.0	239.0	250.0					1																	248263219		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263219C>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.542C>A	1.37:g.248263219C>A	ENSP00000350836:p.Pro181Gln					OR2L13_ENST00000358120.2_Missense_Mutation_p.P181Q	p.P181Q	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	879	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		181					Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.542C>A	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861982	0.51482	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00211	8.54;8.54	4.21	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000214	T	0.00552	0.0018	M	0.84511	2.7	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.34304	-0.9834	10	0.72032	D	0.01	.	11.3369	0.49509	0.0:0.9053:0.0:0.0946	.	181	Q8N349	OR2LD_HUMAN	Q	181	ENSP00000355434:P181Q;ENSP00000350836:P181Q	ENSP00000350836:P181Q	P	+	2	0	OR2L13	246329842	0.000000	0.05858	1.000000	0.80357	0.964000	0.63967	0.121000	0.15667	2.138000	0.66242	0.650000	0.86243	CCA		0.458	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		28	129	1	0	2.4375e-19	1	3.89488e-19	28	129				
NLRP8	126205	broad.mit.edu	37	19	56466062	56466062	+	Missense_Mutation	SNP	G	G	C	rs369440060		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56466062G>C	ENST00000291971.3	+	3	709	c.638G>C	c.(637-639)gGg>gCg	p.G213A	NLRP8_ENST00000590542.1_Missense_Mutation_p.G213A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	213	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGAGCTCCTGGGATCGGAAAA	0.527																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(637-639)gGg>gCg		NLR family, pyrin domain containing 8							86.0	72.0	77.0					19																	56466062		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466062G>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.638G>C	19.37:g.56466062G>C	ENSP00000291971:p.Gly213Ala					NLRP8_ENST00000590542.1_Missense_Mutation_p.G213A	p.G213A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	709	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	213			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.638G>C	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348701	0.41599	.	.	ENSG00000179709	ENST00000291971	D	0.99105	-5.43	2.04	2.04	0.26737	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.99133	0.9701	M	0.87971	2.92	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95234	0.8345	9	0.87932	D	0	.	7.6199	0.28179	0.0:0.0:1.0:0.0	.	213;213	Q86W28-2;Q86W28	.;NALP8_HUMAN	A	213	ENSP00000291971:G213A	ENSP00000291971:G213A	G	+	2	0	NLRP8	61157874	1.000000	0.71417	0.007000	0.13788	0.026000	0.11368	5.793000	0.69060	1.453000	0.47775	0.514000	0.50259	GGG		0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		16	62	0	0	0	1	0	16	62				
ERMARD	55780	broad.mit.edu	37	6	170162575	170162575	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:170162575G>A	ENST00000366773.3	+	9	941	c.908G>A	c.(907-909)aGg>aAg	p.R303K	ERMARD_ENST00000366772.2_Missense_Mutation_p.R303K|ERMARD_ENST00000588451.1_Missense_Mutation_p.R177K|ERMARD_ENST00000392095.4_Missense_Mutation_p.R177K|ERMARD_ENST00000418781.3_Missense_Mutation_p.R303K	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	303					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											ACTGGACTTAGGAATGTTTTT	0.368																																						ENST00000588451.1																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20						c.(529-531)aGg>aAg									150.0	144.0	146.0					6																	170162575		2203	4300	6503	SO:0001583	missense	55780					integral to membrane		g.chr6:170162575G>A	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.908G>A	6.37:g.170162575G>A	ENSP00000355735:p.Arg303Lys					C6orf70_ENST00000418781.3_Missense_Mutation_p.R303K|C6orf70_ENST00000366773.3_Missense_Mutation_p.R303K|C6orf70_ENST00000392095.4_Missense_Mutation_p.R177K|C6orf70_ENST00000366772.2_Missense_Mutation_p.R303K	p.R177K			Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	9	1043	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	303					B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.530G>A	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513098	0.64522	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095	T;T	0.70282	-0.47;-0.47	5.07	5.07	0.68467	.	0.000000	0.52532	D	0.000071	T	0.82157	0.4976	M	0.85299	2.745	0.21675	N	0.999592	D;D;D	0.69078	0.99;0.996;0.997	D;D;D	0.76071	0.979;0.987;0.978	T	0.77327	-0.2629	10	0.87932	D	0	.	17.229	0.86979	0.0:0.0:1.0:0.0	.	303;303;303	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	K	303;303;303;177	ENSP00000355735:R303K;ENSP00000375945:R177K	ENSP00000355734:R303K	R	+	2	0	C6orf70	169904500	0.666000	0.27475	0.452000	0.26994	0.262000	0.26303	5.840000	0.69402	2.350000	0.79820	0.650000	0.86243	AGG		0.368	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		25	105	0	0	0	1	0	25	105				
OR51F2	119694	broad.mit.edu	37	11	4842795	4842795	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:4842795G>C	ENST00000322110.5	+	1	245	c.180G>C	c.(178-180)ctG>ctC	p.L60L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATGATCCTGTTTGTGGTCC	0.483																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(178-180)ctG>ctC		olfactory receptor, family 51, subfamily F, member 2							263.0	257.0	259.0					11																	4842795		2201	4298	6499	SO:0001819	synonymous_variant	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4842795G>C	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.180G>C	11.37:g.4842795G>C						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.L60L	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	245	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	60					Q6IFI1	Silent	SNP	ENST00000322110.5	37	c.180G>C	CCDS31361.1																																																																																				0.483	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		53	131	0	0	0	1	0	53	131				
TCERG1L	256536	broad.mit.edu	37	10	132965059	132965059	+	Splice_Site	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:132965059C>A	ENST00000368642.4	-	5	1031		c.e5+1			NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like											cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CCGAAACTGACCTTGTCTTCT	0.592																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.e5+1		transcription elongation regulator 1-like							95.0	73.0	80.0					10																	132965059		2202	4300	6502	SO:0001630	splice_region_variant	256536							g.chr10:132965059C>A	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.945+1G>T	10.37:g.132965059C>A								NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	5	1031	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)						Q5VWI2|Q86XM8	Splice_Site	SNP	ENST00000368642.4	37		CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	9.392	1.075798	0.20227	.	.	ENSG00000176769	ENST00000368642	.	.	.	2.26	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1042	0.30877	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TCERG1L	132855049	0.997000	0.39634	0.225000	0.23894	0.043000	0.13939	2.811000	0.47986	1.584000	0.49913	0.462000	0.41574	.		0.592	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937	Intron	7	21	1	0	3.09899e-07	1	3.73677e-07	7	21				
HOXB9	3219	broad.mit.edu	37	17	46700292	46700292	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:46700292C>T	ENST00000311177.5	-	2	930	c.723G>A	c.(721-723)aaG>aaA	p.K241K	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_3'UTR	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	241					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TATTCATTTTCTTCATTTTCA	0.468																																						ENST00000311177.5																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						c.(721-723)aaG>aaA		homeobox B9							152.0	161.0	158.0					17																	46700292		2203	4300	6503	SO:0001819	synonymous_variant	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46700292C>T		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.723G>A	17.37:g.46700292C>T						HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000550387.1_3'UTR	p.K241K	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN			2	930	-			241					B2RDB7|Q9H1I1	Silent	SNP	ENST00000311177.5	37	c.723G>A	CCDS11534.1																																																																																				0.468	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			16	66	0	0	0	1	0	16	66				
FKBP9	11328	broad.mit.edu	37	7	33044860	33044860	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:33044860T>C	ENST00000242209.4	+	10	1779	c.1610T>C	c.(1609-1611)aTt>aCt	p.I537T	FKBP9_ENST00000538336.1_Missense_Mutation_p.I590T|FKBP9_ENST00000490776.2_Missense_Mutation_p.I305T|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.I399T	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	537	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGAGCTGATTGTGAAGAAT	0.498																																						ENST00000242209.4																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(1609-1611)aTt>aCt		FK506 binding protein 9, 63 kDa							101.0	82.0	88.0					7																	33044860		2203	4297	6500	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33044860T>C	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1610T>C	7.37:g.33044860T>C	ENSP00000242209:p.Ile537Thr					FKBP9_ENST00000490776.2_Missense_Mutation_p.I305T|FKBP9_ENST00000538336.1_Missense_Mutation_p.I590T|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.I399T	p.I537T	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		10	1779	+			537			EF-hand 2.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.1610T>C	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	T	8.553	0.875916	0.17395	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.54279	0.58;0.58;0.58;2.27	5.07	5.07	0.68467	EF-hand-like domain (1);	0.049632	0.85682	D	0.000000	T	0.47377	0.1442	N	0.16602	0.42	0.58432	D	0.999996	D;P;B	0.60575	0.988;0.54;0.103	P;B;B	0.54815	0.761;0.309;0.041	T	0.35076	-0.9803	10	0.13470	T	0.59	-16.7184	14.8515	0.70300	0.0:0.0:0.0:1.0	.	305;590;537	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	T	537;590;399;305	ENSP00000242209:I537T;ENSP00000439250:I590T;ENSP00000437504:I399T;ENSP00000441317:I305T	ENSP00000242209:I537T	I	+	2	0	FKBP9	33011385	1.000000	0.71417	0.974000	0.42286	0.164000	0.22412	6.208000	0.72165	1.922000	0.55676	0.454000	0.30748	ATT		0.498	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		13	74	0	0	0	1	0	13	74				
PCDHB11	56125	broad.mit.edu	37	5	140579947	140579947	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140579947G>C	ENST00000354757.3	+	1	600	c.600G>C	c.(598-600)ctG>ctC	p.L200L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	200	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAAGGCGCTGGATTATGAAG	0.493																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(598-600)ctG>ctC									70.0	72.0	71.0					5																	140579947		2203	4300	6503	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579947G>C	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.600G>C	5.37:g.140579947G>C						PCDHB11_ENST00000536699.1_Intron	p.L200L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	600	+			200			Cadherin 2.		B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	c.600G>C	CCDS4253.1																																																																																				0.493	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		8	46	0	0	0	1	0	8	46				
KRT71	112802	broad.mit.edu	37	12	52938504	52938504	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:52938504C>T	ENST00000267119.5	-	9	1453	c.1384G>A	c.(1384-1386)Ggc>Agc	p.G462S		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	462	Tail.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TAGACACTGCCGCCACTGGTG	0.642																																						ENST00000267119.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1384-1386)Ggc>Agc		keratin 71							18.0	17.0	17.0					12																	52938504		2161	4243	6404	SO:0001583	missense	112802						structural molecule activity	g.chr12:52938504C>T	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1384G>A	12.37:g.52938504C>T	ENSP00000267119:p.Gly462Ser						p.G462S	NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.194)	9	1453	-			462			Tail.		B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	c.1384G>A	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	C	5.959	0.360887	0.11296	.	.	ENSG00000139648	ENST00000267119	D	0.82255	-1.59	3.75	-0.64	0.11493	.	0.644897	0.12852	N	0.433825	T	0.59445	0.2194	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43556	-0.9384	10	0.20519	T	0.43	.	3.9087	0.09193	0.0:0.2376:0.3823:0.3801	.	462	Q3SY84	K2C71_HUMAN	S	462	ENSP00000267119:G462S	ENSP00000267119:G462S	G	-	1	0	KRT71	51224771	0.002000	0.14202	0.146000	0.22360	0.534000	0.34807	0.481000	0.22260	0.028000	0.15324	-0.367000	0.07326	GGC		0.642	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448		8	27	0	0	0	1	0	8	27				
MOBP	4336	broad.mit.edu	37	3	39543585	39543585	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:39543585G>A	ENST00000420739.1	+	3	249	c.25G>A	c.(25-27)Ggt>Agt	p.G9S	MOBP_ENST00000383754.3_Missense_Mutation_p.G9S|MOBP_ENST00000311042.6_Missense_Mutation_p.G9S|MOBP_ENST00000354668.4_Missense_Mutation_p.G9S|MOBP_ENST00000415443.1_Missense_Mutation_p.G9S|MOBP_ENST00000447324.1_Missense_Mutation_p.G9S|MOBP_ENST00000396228.1_Missense_Mutation_p.G9S|MOBP_ENST00000441980.2_Missense_Mutation_p.G9S|MOBP_ENST00000428261.1_Missense_Mutation_p.G9S			Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	9					intracellular protein transport (GO:0006886)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		GGCCAAGGAGGGTCCCAGACT	0.527																																						ENST00000311042.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(25-27)Ggt>Agt		myelin-associated oligodendrocyte basic protein							80.0	79.0	80.0					3																	39543585		2203	4300	6503	SO:0001583	missense	4336				nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction		g.chr3:39543585G>A	D28113	CCDS2687.1, CCDS63598.1, CCDS2688.1	3p21.33	2004-03-02			ENSG00000168314	ENSG00000168314			7189	protein-coding gene	gene with protein product		600948				7989345	Standard	NM_001278322		Approved		uc031ryw.1	Q13875	OTTHUMG00000131347	ENST00000420739.1:c.25G>A	3.37:g.39543585G>A	ENSP00000400491:p.Gly9Ser					MOBP_ENST00000415443.1_Missense_Mutation_p.G9S|MOBP_ENST00000396228.1_Missense_Mutation_p.G9S|MOBP_ENST00000441980.2_Missense_Mutation_p.G9S|MOBP_ENST00000447324.1_Missense_Mutation_p.G9S|MOBP_ENST00000383754.3_Missense_Mutation_p.G9S|MOBP_ENST00000354668.4_Missense_Mutation_p.G9S|MOBP_ENST00000420739.1_Missense_Mutation_p.G9S|MOBP_ENST00000428261.1_Missense_Mutation_p.G9S	p.G9S	NM_001278322.1	NP_001265251.1	Q13875	MOBP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)	3	174	+			9					A8K2C2|G5E945|Q13874|Q6DHZ6|Q8TBJ1	Missense_Mutation	SNP	ENST00000420739.1	37	c.25G>A		.	.	.	.	.	.	.	.	.	.	G	17.18	3.324501	0.60634	.	.	ENSG00000168314	ENST00000451925;ENST00000354668;ENST00000428261;ENST00000420739;ENST00000415443;ENST00000447324;ENST00000383754;ENST00000436143;ENST00000441980;ENST00000311042;ENST00000396228	.	.	.	3.95	3.95	0.45737	.	0.065879	0.64402	D	0.000013	T	0.66237	0.2769	.	.	.	0.45607	D	0.998549	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.993;0.977	T	0.59300	-0.7480	8	0.11182	T	0.66	-15.7247	14.3151	0.66443	0.0:0.0:1.0:0.0	.	9;9;9	Q13875;G5E945;Q13875-3	MOBP_HUMAN;.;.	S	9;9;9;9;9;9;9;20;9;9;9	.	ENSP00000312293:G9S	G	+	1	0	MOBP	39518589	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.783000	0.75078	2.489000	0.83994	0.655000	0.94253	GGT		0.527	MOBP-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343711.1	NM_006501, NM_182934, NM_182935		11	30	0	0	0	1	0	11	30				
OR4L1	122742	broad.mit.edu	37	14	20528935	20528935	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20528935C>T	ENST00000315683.1	+	1	732	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	244						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(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGCCCACATCATTGTGGTCA	0.408																																						ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(730-732)atC>atT		olfactory receptor, family 4, subfamily L, member 1							168.0	151.0	157.0					14																	20528935		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528935C>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.732C>T	14.37:g.20528935C>T							p.I244I	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	732	+	all_cancers(95;0.00108)		244					Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.732C>T	CCDS32029.1																																																																																				0.408	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			19	104	0	0	0	1	0	19	104				
POLR2B	5431	broad.mit.edu	37	4	57883369	57883369	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:57883369G>C	ENST00000381227.1	+	16	2529	c.2116G>C	c.(2116-2118)Gtc>Ctc	p.V706L	POLR2B_ENST00000431623.2_Missense_Mutation_p.V631L|POLR2B_ENST00000441246.2_Missense_Mutation_p.V699L|POLR2B_ENST00000314595.5_Missense_Mutation_p.V706L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	706					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GATCCTTGGTGTCTGTGCATC	0.383																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2116-2118)Gtc>Ctc		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							349.0	322.0	331.0					4																	57883369		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57883369G>C		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2116G>C	4.37:g.57883369G>C	ENSP00000370625:p.Val706Leu					POLR2B_ENST00000431623.2_Missense_Mutation_p.V631L|POLR2B_ENST00000441246.2_Missense_Mutation_p.V699L|POLR2B_ENST00000314595.5_Missense_Mutation_p.V706L	p.V706L			P30876	RPB2_HUMAN			16	2529	+	Glioma(25;0.08)|all_neural(26;0.181)		706					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2116G>C	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227296	0.79576	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	4.74	4.74	0.60224	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.78355	0.4270	M	0.75447	2.3	0.80722	D	1	B;B	0.31893	0.345;0.345	B;B	0.42653	0.394;0.394	T	0.81031	-0.1117	10	0.87932	D	0	.	18.0845	0.89453	0.0:0.0:1.0:0.0	.	631;706	C9J4M6;P30876	.;RPB2_HUMAN	L	706;631;699;706	ENSP00000370625:V706L;ENSP00000391096:V631L;ENSP00000391452:V699L;ENSP00000312735:V706L	ENSP00000312735:V706L	V	+	1	0	POLR2B	57578126	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.809000	0.99208	2.334000	0.79466	0.462000	0.41574	GTC		0.383	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		45	140	0	0	0	1	0	45	140				
YWHAH	7533	broad.mit.edu	37	22	32352730	32352730	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:32352730C>T	ENST00000248975.5	+	2	965	c.692C>T	c.(691-693)aCc>aTc	p.T231I	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	231					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						GACAACCTCACCCTCTGGACG	0.542																																					Ovarian(98;460 2060 9263 44007)	ENST00000248975.5																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(691-693)aCc>aTc		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide							45.0	37.0	40.0					22																	32352730		2203	4300	6503	SO:0001583	missense	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32352730C>T	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.692C>T	22.37:g.32352730C>T	ENSP00000248975:p.Thr231Ile					YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	p.T231I	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN			2	965	+			231						Missense_Mutation	SNP	ENST00000248975.5	37	c.692C>T	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410119	0.83340	.	.	ENSG00000128245	ENST00000248975	T	0.50277	0.75	5.95	5.95	0.96441	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	T	0.80200	-0.1481	10	0.87932	D	0	-21.5722	19.3813	0.94536	0.0:1.0:0.0:0.0	.	231;231	B2R6N6;Q04917	.;1433F_HUMAN	I	231	ENSP00000248975:T231I	ENSP00000248975:T231I	T	+	2	0	YWHAH	30682730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.588000	0.82629	2.824000	0.97209	0.655000	0.94253	ACC		0.542	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		4	15	0	0	0	1	0	4	15				
CPSF1	29894	broad.mit.edu	37	8	145620155	145620155	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:145620155C>T	ENST00000349769.3	-	30	3450	c.3356G>A	c.(3355-3357)gGc>gAc	p.G1119D	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1119					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCCACGTAGCCTTTGAGGCC	0.682																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(3355-3357)gGc>gAc		cleavage and polyadenylation specific factor 1, 160kDa							39.0	40.0	40.0					8																	145620155		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145620155C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.3356G>A	8.37:g.145620155C>T	ENSP00000339353:p.Gly1119Asp						p.G1119D	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		30	3450	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1119					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.3356G>A	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929098	0.34096	.	.	ENSG00000071894	ENST00000349769	T	0.39229	1.09	4.71	4.71	0.59529	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	N	0.16166	0.38	0.58432	D	0.999999	B	0.20780	0.048	B	0.29440	0.102	T	0.07520	-1.0768	10	0.11485	T	0.65	-11.6446	13.4975	0.61434	0.0:1.0:0.0:0.0	.	1119	Q10570	CPSF1_HUMAN	D	1119	ENSP00000339353:G1119D	ENSP00000339353:G1119D	G	-	2	0	CPSF1	145590963	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.361000	0.66092	2.346000	0.79739	0.561000	0.74099	GGC		0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		19	101	0	0	0	1	0	19	101				
TMEM108	66000	broad.mit.edu	37	3	133109139	133109139	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:133109139G>A	ENST00000321871.6	+	5	1776	c.1566G>A	c.(1564-1566)gtG>gtA	p.V522V	TMEM108_ENST00000393130.3_Silent_p.V522V|TMEM108_ENST00000508711.1_Silent_p.V52V	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	522						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCATGCTGTGGAGCTGCCCA	0.542																																						ENST00000321871.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1564-1566)gtG>gtA		transmembrane protein 108							312.0	294.0	300.0					3																	133109139		2203	4300	6503	SO:0001819	synonymous_variant	66000					integral to membrane		g.chr3:133109139G>A	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1566G>A	3.37:g.133109139G>A						TMEM108_ENST00000508711.1_Silent_p.V52V|TMEM108_ENST00000393130.3_Silent_p.V522V	p.V522V	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN			5	1776	+			522					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Silent	SNP	ENST00000321871.6	37	c.1566G>A	CCDS33858.1																																																																																				0.542	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		13	416	0	0	0	1	0	13	416				
CSNK1G3	1456	broad.mit.edu	37	5	122930768	122930768	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:122930768G>A	ENST00000361991.2	+	10	1152	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	CSNK1G3_ENST00000510842.2_Intron|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000360683.2_Silent_p.Q374Q|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000345990.4_Intron|CSNK1G3_ENST00000395411.1_Silent_p.Q374Q|CSNK1G3_ENST00000395412.1_Silent_p.Q374Q|CSNK1G3_ENST00000521364.1_Intron			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	374					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ACTCCCAGCAGGCAAATCCCC	0.443																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(1120-1122)caG>caA		casein kinase 1, gamma 3							86.0	80.0	82.0					5																	122930768		2203	4300	6503	SO:0001819	synonymous_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122930768G>A	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.1122G>A	5.37:g.122930768G>A						CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Intron|CSNK1G3_ENST00000395411.1_Silent_p.Q374Q|CSNK1G3_ENST00000361991.2_Silent_p.Q374Q|CSNK1G3_ENST00000360683.2_Silent_p.Q374Q|CSNK1G3_ENST00000345990.4_Intron|CSNK1G3_ENST00000521364.1_Intron|CSNK1G3_ENST00000511130.2_Intron	p.Q374Q	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	11	1841	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	374					A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Silent	SNP	ENST00000361991.2	37	c.1122G>A	CCDS4135.1																																																																																				0.443	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		8	31	0	0	0	1	0	8	31				
TLN2	83660	broad.mit.edu	37	15	63076078	63076078	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:63076078G>T	ENST00000561311.1	+	44	5955	c.5725G>T	c.(5725-5727)Gaa>Taa	p.E1909*	AC103740.1_ENST00000577415.1_RNA|TLN2_ENST00000472902.1_Nonsense_Mutation_p.E302*|TLN2_ENST00000306829.6_Nonsense_Mutation_p.E1909*			Q9Y4G6	TLN2_HUMAN	talin 2	1909					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCCACGGCGGAACCAGAGGA	0.552																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5725-5727)Gaa>Taa		talin 2							78.0	74.0	75.0					15																	63076078		2203	4300	6503	SO:0001587	stop_gained	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63076078G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5725G>T	15.37:g.63076078G>T	ENSP00000453508:p.Glu1909*					TLN2_ENST00000306829.6_Nonsense_Mutation_p.E1909*|TLN2_ENST00000472902.1_Nonsense_Mutation_p.E302*	p.E1909*			Q9Y4G6	TLN2_HUMAN			44	5955	+			1909					A6NLB8	Nonsense_Mutation	SNP	ENST00000561311.1	37	c.5725G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	40	8.127499	0.98667	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-21.987	19.1543	0.93504	0.0:0.0:1.0:0.0	.	.	.	.	X	1909	.	ENSP00000303476:E1909X	E	+	1	0	TLN2	60863131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.593000	0.87608	0.655000	0.94253	GAA		0.552	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			17	72	1	0	7.45023e-12	1	1.02399e-11	17	72				
RAD17	5884	broad.mit.edu	37	5	68709914	68709914	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:68709914G>T	ENST00000509734.1	+	18	2519	c.1841G>T	c.(1840-1842)gGa>gTa	p.G614V	MARVELD2_ENST00000325631.5_5'Flank|RAD17_ENST00000521422.1_Missense_Mutation_p.G438V|RAD17_ENST00000361732.2_Missense_Mutation_p.G603V|RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000345306.6_Missense_Mutation_p.G603V|RAD17_ENST00000358030.2_Missense_Mutation_p.G438V|RAD17_ENST00000380774.3_Missense_Mutation_p.G614V|RAD17_ENST00000354312.3_Missense_Mutation_p.G603V|RAD17_ENST00000354868.5_Missense_Mutation_p.G603V|RAD17_ENST00000305138.4_Missense_Mutation_p.G603V|RAD17_ENST00000282891.6_Missense_Mutation_p.G517V			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	614	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CCTGACAGCGGAGATGAAGCC	0.488								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1840-1842)gGa>gTa	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							108.0	105.0	106.0					5																	68709914		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68709914G>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1841G>T	5.37:g.68709914G>T	ENSP00000426191:p.Gly614Val					RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000380774.3_Missense_Mutation_p.G614V|RAD17_ENST00000521422.1_Missense_Mutation_p.G438V|RAD17_ENST00000345306.6_Missense_Mutation_p.G603V|RAD17_ENST00000305138.4_Missense_Mutation_p.G603V|RAD17_ENST00000358030.2_Missense_Mutation_p.G438V|RAD17_ENST00000361732.2_Missense_Mutation_p.G603V|RAD17_ENST00000354312.3_Missense_Mutation_p.G603V|RAD17_ENST00000354868.5_Missense_Mutation_p.G603V|RAD17_ENST00000282891.6_Missense_Mutation_p.G517V	p.G614V			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	18	2519	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	614			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1841G>T	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191350	0.58017	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T	0.25414	2.11;2.11;2.11;1.8;2.11;2.11;2.11;1.82;1.8;2.11	5.35	3.3	0.37823	.	0.204685	0.50627	D	0.000104	T	0.40522	0.1120	M	0.64997	1.995	0.58432	D	0.999999	D;D;D	0.62365	0.985;0.989;0.991	P;P;D	0.63381	0.823;0.885;0.914	T	0.25606	-1.0127	10	0.72032	D	0.01	-11.5625	7.6589	0.28392	0.2492:0.0:0.7508:0.0	.	614;517;603	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	V	603;614;603;438;603;603;603;517;438;614	ENSP00000355226:G603V;ENSP00000426191:G614V;ENSP00000346938:G603V;ENSP00000427743:G438V;ENSP00000346271:G603V;ENSP00000311227:G603V;ENSP00000303134:G603V;ENSP00000282891:G517V;ENSP00000350725:G438V;ENSP00000370151:G614V	ENSP00000282891:G517V	G	+	2	0	RAD17	68745670	0.994000	0.37717	0.993000	0.49108	0.632000	0.37999	0.590000	0.23954	1.248000	0.43934	0.655000	0.94253	GGA		0.488	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		29	80	1	0	5.60225e-13	1	7.90194e-13	29	80				
HIST1H1C	3006	broad.mit.edu	37	6	26056503	26056503	+	Missense_Mutation	SNP	T	T	C	rs141424312	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:26056503T>C	ENST00000343677.2	-	1	196	c.154A>G	c.(154-156)Aaa>Gaa	p.K52E		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	52	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CTACGCTCTTTAGAGGCGGCC	0.557																																						ENST00000343677.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(154-156)Aaa>Gaa		histone cluster 1, H1c		T	GLU/LYS	1,4405	2.1+/-5.4	0,1,2202	63.0	72.0	69.0		154	5.7	1.0	6	dbSNP_134	69	0,8600		0,0,4300	no	missense	HIST1H1C	NM_005319.3	56	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	52/214	26056503	1,13005	2203	4300	6503	SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056503T>C	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.154A>G	6.37:g.26056503T>C	ENSP00000339566:p.Lys52Glu						p.K52E	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	196	-			52			H15.		A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.154A>G	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607315	0.66558	2.27E-4	0.0	ENSG00000187837	ENST00000343677	T	0.32023	1.47	5.73	5.73	0.89815	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.230373	0.43416	D	0.000571	T	0.61211	0.2329	H	0.95294	3.65	0.80722	D	1	D	0.63880	0.993	D	0.69307	0.963	T	0.74503	-0.3644	10	0.87932	D	0	-6.1874	15.4929	0.75624	0.0:0.0:0.0:1.0	.	52	P16403	H12_HUMAN	E	52	ENSP00000339566:K52E	ENSP00000339566:K52E	K	-	1	0	HIST1H1C	26164482	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	4.940000	0.63533	2.308000	0.77769	0.533000	0.62120	AAA		0.557	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		38	94	0	0	0	1	0	38	94				
TTN	7273	broad.mit.edu	37	2	179622620	179622620	+	Intron	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179622620T>A	ENST00000591111.1	-	44	10528				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.T3397S|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T3443S|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			GAGTTTGATGTATTTTCTTCA	0.403																																						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.(10327-10329)Aca>Tca		titin							86.0	87.0	87.0					2																	179622620		1841	4090	5931	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179622620T>A	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.10303+1090A>T	2.37:g.179622620T>A						TTN_ENST00000359218.5_Missense_Mutation_p.T3397S|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	p.T3443S	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)		45	10551	-			3146					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.10327A>T		.	.	.	.	.	.	.	.	.	.	T	13.12	2.141867	0.37825	.	.	ENSG00000155657	ENST00000359218	T	0.60299	0.2	6.02	4.84	0.62591	.	.	.	.	.	T	0.48892	0.1525	.	.	.	0.22171	N	0.999319	B	0.30741	0.293	B	0.22386	0.039	T	0.44877	-0.9299	8	0.87932	D	0	.	13.2827	0.60224	0.0:0.0:0.1323:0.8677	.	3397	E7EQE6	.	S	3397	ENSP00000352154:T3397S	ENSP00000352154:T3397S	T	-	1	0	TTN	179330865	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.230000	0.51286	1.064000	0.40671	0.528000	0.53228	ACA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	78	0	0	0	1	0	17	78				
CCDC7	79741	broad.mit.edu	37	10	32780866	32780866	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:32780866G>T	ENST00000362006.5	+	10	1356	c.813G>T	c.(811-813)atG>atT	p.M271I	CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000537047.1_Nonstop_Mutation_p.*176L|CCDC7_ENST00000277657.6_Missense_Mutation_p.M271I|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000539197.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	271										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				CTCATTCAATGACTAATCGAT	0.259																																						ENST00000537047.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(526-528)tGa>tTa		coiled-coil domain containing 7							68.0	76.0	73.0					10																	32780866		2203	4293	6496	SO:0001583	missense	221016							g.chr10:32780866G>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.813G>T	10.37:g.32780866G>T	ENSP00000355078:p.Met271Ile					CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000277657.6_Missense_Mutation_p.M271I|CCDC7_ENST00000362006.5_Missense_Mutation_p.M271I|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000489718.1_3'UTR	p.*176L			Q96M83	CCDC7_HUMAN			6	549	+		Breast(68;0.000207)|Prostate(175;0.0107)	0					Q5VW55|Q8IVQ0|Q8NEQ0	Nonstop_Mutation	SNP	ENST00000362006.5	37	c.527G>T	CCDS7173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.009|0.009	-1.853783|-1.853783	0.00558|0.00558	.|.	.|.	ENSG00000216937|ENSG00000216937	ENST00000277657;ENST00000362006|ENST00000537047	T;T|.	0.30714|.	1.52;1.52|.	4.13|4.13	-1.09|-1.09	0.09904|0.09904	.|.	.|.	.|.	.|.	.|.	T|.	0.19765|.	0.0475|.	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.14012|.	0.009|.	B|.	0.13407|.	0.009|.	T|.	0.25047|.	-1.0143|.	9|.	0.19590|.	T|.	0.45|.	-18.9339|-18.9339	2.8569|2.8569	0.05575|0.05575	0.2908:0.0:0.3735:0.3357|0.2908:0.0:0.3735:0.3357	.|.	271|.	Q96M83|.	CCDC7_HUMAN|.	I|L	271|176	ENSP00000277657:M271I;ENSP00000355078:M271I|.	ENSP00000277657:M271I|.	M|X	+|+	3|2	0|2	CCDC7|CCDC7	32820872|32820872	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.022000|-0.022000	0.12480|0.12480	-0.194000|-0.194000	0.10399|0.10399	-0.258000|-0.258000	0.10820|0.10820	ATG|TGA		0.259	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		6	55	1	0	2.0095e-06	1	2.3487e-06	6	55				
HTR1A	3350	broad.mit.edu	37	5	63256868	63256868	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:63256868G>C	ENST00000323865.3	-	1	912	c.679C>G	c.(679-681)Cgc>Ggc	p.R227G	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	227					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACCGTCTTGCGGATGCGGAAG	0.582																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(679-681)Cgc>Ggc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						71.0	79.0	76.0					5																	63256868		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256868G>C	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.679C>G	5.37:g.63256868G>C	ENSP00000316244:p.Arg227Gly					RP11-158J3.2_ENST00000502882.1_RNA	p.R227G	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	912	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	227					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.679C>G	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421962	0.62622	.	.	ENSG00000178394	ENST00000323865	T	0.42513	0.97	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.74022	-0.3798	10	0.72032	D	0.01	.	18.8287	0.92128	0.0:0.0:1.0:0.0	.	227	P08908	5HT1A_HUMAN	G	227	ENSP00000316244:R227G	ENSP00000316244:R227G	R	-	1	0	HTR1A	63292624	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.088000	0.41663	2.692000	0.91855	0.655000	0.94253	CGC		0.582	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		23	107	0	0	0	1	0	23	107				
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTGTGGGAGGGGGGAATGTTC	0.622																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659741G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659741G>A								NR_003714.1						0	3266	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.622	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	22	0	0	0	1	0	4	22				
DCHS1	8642	broad.mit.edu	37	11	6643193	6643193	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:6643193G>A	ENST00000299441.3	-	21	10125	c.9714C>T	c.(9712-9714)ccC>ccT	p.P3238P	TPP1_ENST00000534644.1_5'Flank|TPP1_ENST00000528657.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000299427.6_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3238					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGCTGATGGGGGAGCGGT	0.632																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(9712-9714)ccC>ccT		dachsous cadherin-related 1							67.0	61.0	63.0					11																	6643193		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643193G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9714C>T	11.37:g.6643193G>A						RP11-732A19.5_ENST00000526456.1_RNA	p.P3238P	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	10125	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3238					O15098	Silent	SNP	ENST00000299441.3	37	c.9714C>T	CCDS7771.1																																																																																				0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	31	0	0	0	1	0	8	31				
PPFIA2	8499	broad.mit.edu	37	12	81839411	81839411	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:81839411G>A	ENST00000549396.1	-	6	654	c.494C>T	c.(493-495)tCa>tTa	p.S165L	PPFIA2_ENST00000333447.7_Missense_Mutation_p.S147L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S147L|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S165L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S12L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S91L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S165L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S91L|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S165L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	165	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGATACTCCTGAGGGAGACTG	0.433																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(493-495)tCa>tTa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							119.0	113.0	115.0					12																	81839411		1912	4130	6042	SO:0001583	missense	8499							g.chr12:81839411G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.494C>T	12.37:g.81839411G>A	ENSP00000450337:p.Ser165Leu					PPFIA2_ENST00000548586.1_Missense_Mutation_p.S165L|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S91L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S165L|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S147L|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S91L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S165L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S147L|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S12L	p.S165L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			5	789	-			91					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.494C>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	36	5.632046	0.96682	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000551442	T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;1.19	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	N	0.08118	0	0.80722	D	1	D;D	0.61080	0.989;0.967	D;D	0.75020	0.985;0.916	T	0.63484	-0.6627	10	0.87932	D	0	-8.0882	19.7763	0.96395	0.0:0.0:1.0:0.0	.	65;165	B7Z4H8;O75334	.;LIPA2_HUMAN	L	165;147;91;176;147;165;91;165;147	ENSP00000450337:S165L;ENSP00000450298:S147L;ENSP00000385093:S91L;ENSP00000327416:S147L;ENSP00000449338:S165L;ENSP00000388373:S91L;ENSP00000447868:S165L;ENSP00000449469:S147L	ENSP00000327416:S147L	S	-	2	0	PPFIA2	80363542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.684000	0.91462	0.650000	0.86243	TCA		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			9	34	0	0	0	1	0	9	34				
LOC101927209	101927209	broad.mit.edu	37	1	142713236	142713236	+	lincRNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:142713236C>A	ENST00000610091.1	-	0	2422																											TTATCTTCTGCATTTTCATAC	0.388																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713236C>A																													1.37:g.142713236C>A														0	1369	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.388	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			15	43	1	0	6.72482e-11	1	8.9599e-11	15	43				
PRKCA	5578	broad.mit.edu	37	17	64785040	64785040	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:64785040G>A	ENST00000413366.3	+	16	1823	c.1797G>A	c.(1795-1797)agG>agA	p.R599R	MIR634_ENST00000385208.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	599	AGC-kinase C-terminal.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)	p.R599I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	TCTTCCGGAGGATCGACTGGG	0.567																																						ENST00000413366.3																			1	Substitution - Missense(1)	p.R599I(1)	lung(1)	breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1795-1797)agG>agA		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						77.0	74.0	75.0					17																	64785040		2203	4300	6503	SO:0001819	synonymous_variant	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64785040G>A		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1797G>A	17.37:g.64785040G>A							p.R599R	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		16	1823	+			599			AGC-kinase C-terminal.		B5BU22|Q15137|Q32M72|Q96RE4	Silent	SNP	ENST00000413366.3	37	c.1797G>A	CCDS11664.1																																																																																				0.567	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			10	50	0	0	0	1	0	10	50				
CDH19	28513	broad.mit.edu	37	18	64239253	64239253	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:64239253G>T	ENST00000540086.1	-	2	435	c.189C>A	c.(187-189)atC>atA	p.I63I	CDH19_ENST00000262150.2_Silent_p.I63I	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	163	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTACCTGGCCGATGTGATGAC	0.373																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(187-189)atC>atA		cadherin 19, type 2							79.0	74.0	76.0					18																	64239253		2203	4300	6503	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64239253G>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.189C>A	18.37:g.64239253G>T						CDH19_ENST00000540086.1_Silent_p.I63I	p.I63I	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			2	481	-		Esophageal squamous(42;0.0132)	63			Cadherin 1.		O15098	Silent	SNP	ENST00000540086.1	37	c.189C>A	CCDS59325.1																																																																																				0.373	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		6	27	1	0	2.7689e-08	1	3.45734e-08	6	27				
CSMD3	114788	broad.mit.edu	37	8	113966957	113966957	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:113966957A>T	ENST00000297405.5	-	8	1620	c.1376T>A	c.(1375-1377)tTt>tAt	p.F459Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.F459Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.F355Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.F419Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	459						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACAATTTAAATCCTCTAGA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1375-1377)tTt>tAt		CUB and Sushi multiple domains 3							63.0	64.0	64.0					8																	113966957		2199	4297	6496	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113966957A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1376T>A	8.37:g.113966957A>T	ENSP00000297405:p.Phe459Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.F459Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.F419Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.F355Y	p.F459Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			8	1620	-			459					Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1376T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365107	0.61513	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.26223	2.17;2.16;1.75;2.16	5.62	5.62	0.85841	.	0.086625	0.49305	D	0.000143	T	0.27933	0.0688	N	0.22421	0.69	0.32228	N	0.574363	P;P;D	0.56287	0.911;0.764;0.975	B;B;P	0.58210	0.442;0.257;0.835	T	0.03922	-1.0992	10	0.02654	T	1	.	15.807	0.78520	1.0:0.0:0.0:0.0	.	355;459;419	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	419;459;355;459	ENSP00000345799:F419Y;ENSP00000297405:F459Y;ENSP00000412263:F355Y;ENSP00000343124:F459Y	ENSP00000297405:F459Y	F	-	2	0	CSMD3	114036133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.133000	0.65898	0.482000	0.46254	TTT		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	37	0	0	0	1	0	4	37				
ADSS	159	broad.mit.edu	37	1	244574618	244574618	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:244574618C>A	ENST00000366535.3	-	12	1605	c.1289G>T	c.(1288-1290)cGa>cTa	p.R430L	RP11-518L10.5_ENST00000417765.1_RNA	NM_001126.3	NP_001117.2			adenylosuccinate synthase									p.R430Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TTCAATAAATCGAACATAGTT	0.318																																						ENST00000366535.3																			1	Substitution - Missense(1)	p.R430Q(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1288-1290)cGa>cTa		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						138.0	134.0	135.0					1																	244574618		2203	4299	6502	SO:0001583	missense	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244574618C>A	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1289G>T	1.37:g.244574618C>A	ENSP00000355493:p.Arg430Leu						p.R430L	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		12	1605	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	430						Missense_Mutation	SNP	ENST00000366535.3	37	c.1289G>T	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590172	0.46214	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	T	0.42513	0.97	5.81	2.57	0.30868	.	0.222912	0.47852	D	0.000210	T	0.33089	0.0851	L	0.43554	1.36	0.58432	D	0.999998	B	0.15141	0.012	B	0.18561	0.022	T	0.29427	-1.0012	10	0.62326	D	0.03	-8.9745	9.0199	0.36193	0.1251:0.7304:0.0:0.1445	.	430	P30520	PURA2_HUMAN	L	430;409	ENSP00000355493:R430L	ENSP00000355493:R430L	R	-	2	0	ADSS	242641241	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	3.065000	0.49994	1.455000	0.47813	0.650000	0.86243	CGA		0.318	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		12	36	1	0	5.50884e-06	1	6.29385e-06	12	36				
POU3F3	5455	broad.mit.edu	37	2	105473259	105473259	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:105473259C>A	ENST00000361360.2	+	1	1291	c.1291C>A	c.(1291-1293)Ccc>Acc	p.P431T	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	431					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTGCCCCAAGCCCTCCGCGCA	0.642																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1291-1293)Ccc>Acc		POU class 3 homeobox 3							37.0	37.0	37.0					2																	105473259		2203	4300	6503	SO:0001583	missense	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473259C>A		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1291C>A	2.37:g.105473259C>A	ENSP00000355001:p.Pro431Thr					RP11-13J10.1_ENST00000598623.1_RNA	p.P431T	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	1291	+			431					P78379|Q4ZG25	Missense_Mutation	SNP	ENST00000361360.2	37	c.1291C>A	CCDS33265.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753698	0.69648	.	.	ENSG00000198914	ENST00000361360	D	0.98666	-5.06	4.31	4.31	0.51392	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	U	0.000002	D	0.99453	0.9806	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98134	1.0432	10	0.72032	D	0.01	.	15.5529	0.76167	0.0:1.0:0.0:0.0	.	431	P20264	PO3F3_HUMAN	T	431	ENSP00000355001:P431T	ENSP00000355001:P431T	P	+	1	0	POU3F3	104839691	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.379000	0.79691	1.943000	0.56356	0.462000	0.41574	CCC		0.642	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			13	29	1	0	0.00136819	1	0.00144905	13	29				
CSMD2	114784	broad.mit.edu	37	1	34076814	34076814	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:34076814G>A	ENST00000373380.1	-	20	3009	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	CSMD2_ENST00000373377.1_Missense_Mutation_p.P156L|CSMD2_ENST00000373388.2_Missense_Mutation_p.P156L|CSMD2_ENST00000373381.4_Missense_Mutation_p.P2057L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2017	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCGTGGTTGGGCTCGGTGGA	0.562																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(6169-6171)cCc>cTc		CUB and Sushi multiple domains 2							99.0	102.0	101.0					1																	34076814		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34076814G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2789C>T	1.37:g.34076814G>A	ENSP00000362478:p.Pro930Leu					CSMD2_ENST00000373380.1_Missense_Mutation_p.P930L|CSMD2_ENST00000373388.2_Missense_Mutation_p.P156L|CSMD2_ENST00000373377.1_Missense_Mutation_p.P156L	p.P2057L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			41	6346	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2017			CUB 12.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6170C>T		.	.	.	.	.	.	.	.	.	.	G	22.4	4.279207	0.80692	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.37	5.37	0.77165	CUB (5);	0.125962	0.53938	D	0.000043	T	0.24392	0.0591	L	0.41906	1.305	0.58432	D	0.999999	P;B;P	0.37176	0.586;0.367;0.585	P;B;B	0.44772	0.46;0.309;0.314	T	0.01280	-1.1397	10	0.59425	D	0.04	.	18.1017	0.89508	0.0:0.0:1.0:0.0	.	930;2017;2057	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	L	2057;930;156;156	ENSP00000362479:P2057L;ENSP00000362478:P930L;ENSP00000362475:P156L;ENSP00000362486:P156L	ENSP00000241312:P2017L	P	-	2	0	CSMD2	33849401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.528000	0.85240	0.561000	0.74099	CCC		0.562	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		10	41	0	0	0	1	0	10	41				
ZNF454	285676	broad.mit.edu	37	5	178391743	178391743	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:178391743G>T	ENST00000320129.3	+	5	641	c.338G>T	c.(337-339)aGa>aTa	p.R113I	ZNF454_ENST00000519564.1_Missense_Mutation_p.R113I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATAAAGGAAAGATTCAGTAGC	0.468																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(337-339)aGa>aTa		zinc finger protein 454							69.0	68.0	68.0					5																	178391743		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178391743G>T	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.338G>T	5.37:g.178391743G>T	ENSP00000326249:p.Arg113Ile					ZNF454_ENST00000519564.1_Missense_Mutation_p.R113I	p.R113I	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	641	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	113					Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.338G>T	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979545	0.18812	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.08634	3.07;3.07	4.94	-0.0371	0.13885	.	0.369818	0.19756	N	0.106778	T	0.03220	0.0094	N	0.08118	0	0.09310	N	0.999999	B	0.15930	0.015	B	0.12156	0.007	T	0.39542	-0.9609	10	0.30854	T	0.27	-20.1033	3.3952	0.07303	0.3845:0.0:0.4386:0.1769	.	113	Q8N9F8	ZN454_HUMAN	I	113	ENSP00000326249:R113I;ENSP00000430354:R113I	ENSP00000326249:R113I	R	+	2	0	ZNF454	178324349	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.610000	0.24253	0.296000	0.22592	-0.142000	0.14014	AGA		0.468	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		12	37	1	0	3.07112e-06	1	3.55317e-06	12	37				
ZNF667	63934	broad.mit.edu	37	19	56953128	56953128	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56953128C>A	ENST00000504904.3	-	7	1955	c.1236G>T	c.(1234-1236)aaG>aaT	p.K412N	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.K412N|ZNF667_ENST00000342634.3_Missense_Mutation_p.K540N			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CAAATAGTTTCTTTTTCTTTG	0.333																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1234-1236)aaG>aaT		zinc finger protein 667							54.0	53.0	53.0					19																	56953128		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953128C>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1236G>T	19.37:g.56953128C>A	ENSP00000439402:p.Lys412Asn					ZNF667_ENST00000342634.3_Missense_Mutation_p.K540N|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.K412N	p.K412N			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	1955	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	412					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.1236G>T	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006940	0.35415	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.26067	1.76;1.76;1.76	5.05	4.0	0.46444	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.145709	0.31949	N	0.006803	T	0.26195	0.0639	L	0.52905	1.665	0.38619	D	0.951082	B;B	0.15141	0.012;0.012	B;B	0.14578	0.011;0.011	T	0.13150	-1.0520	10	0.62326	D	0.03	-8.9855	12.5575	0.56263	0.1676:0.8324:0.0:0.0	.	540;412	E7EPS0;Q5HYK9	.;ZN667_HUMAN	N	540;412;412;194	ENSP00000344699:K540N;ENSP00000439402:K412N;ENSP00000292069:K412N	ENSP00000292069:K412N	K	-	3	2	ZNF667	61644940	.	.	0.978000	0.43139	0.014000	0.08584	.	.	1.329000	0.45376	0.591000	0.81541	AAG		0.333	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		7	28	1	0	0.00198382	1	0.00209136	7	28				
NCOR1P1	149934	broad.mit.edu	37	20	26084222	26084222	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:26084222G>T	ENST00000478176.1	-	0	235					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		TGAAAGTTTTGAAGGTGAAGC	0.388																																						ENST00000478176.1																			0																				62.0	45.0	50.0					20																	26084222		692	1591	2283			149934							g.chr20:26084222G>T	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084222G>T								NR_003678.1						0	235	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.388	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			4	26	1	0	0.014758	1	0.0151389	4	26				
CREB3L3	84699	broad.mit.edu	37	19	4168375	4168375	+	Missense_Mutation	SNP	C	C	T	rs534584711		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:4168375C>T	ENST00000078445.2	+	6	889	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	CREB3L3_ENST00000252587.3_Missense_Mutation_p.R188C|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.R246C|CREB3L3_ENST00000595923.1_Missense_Mutation_p.R247C	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	248	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAAAAAATCCGCCGGAAAAT	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16497	0.0		0.0	False		,,,				2504	0.0					ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(742-744)Cgc>Tgc		cAMP responsive element binding protein 3-like 3							61.0	57.0	58.0					19																	4168375		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4168375C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.742C>T	19.37:g.4168375C>T	ENSP00000078445:p.Arg248Cys					CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.R246C|CREB3L3_ENST00000595923.1_Missense_Mutation_p.R247C|CREB3L3_ENST00000252587.3_Missense_Mutation_p.R188C	p.R248C	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	6	889	+			248					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.742C>T	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250442	0.80024	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.83837	-1.77;-1.77	5.06	3.99	0.46301	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.93458	0.7913	H	0.96861	3.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94399	0.7621	10	0.87932	D	0	-7.7501	11.6221	0.51124	0.3226:0.6773:0.0:0.0	.	246;247;248	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	C	248;248;188	ENSP00000078445:R248C;ENSP00000252587:R188C	ENSP00000078445:R248C	R	+	1	0	CREB3L3	4119375	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.546000	0.67243	1.192000	0.43071	0.655000	0.94253	CGC		0.552	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		12	37	0	0	0	1	0	12	37				
SCUBE3	222663	broad.mit.edu	37	6	35210479	35210479	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:35210479G>T	ENST00000274938.7	+	14	1615	c.1615G>T	c.(1615-1617)Gcc>Tcc	p.A539S	SCUBE3_ENST00000394681.1_Missense_Mutation_p.A555S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GGGCCGACGGGCCCGGACCCC	0.622																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(1615-1617)Gcc>Tcc		signal peptide, CUB domain, EGF-like 3							80.0	89.0	86.0					6																	35210479		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35210479G>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1615G>T	6.37:g.35210479G>T	ENSP00000274938:p.Ala539Ser					SCUBE3_ENST00000394681.1_Missense_Mutation_p.A555S	p.A539S	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			14	1615	+			539						Missense_Mutation	SNP	ENST00000274938.7	37	c.1615G>T	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270712	0.59540	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.82167	-1.16;-1.58	5.45	4.58	0.56647	.	0.050169	0.85682	D	0.000000	T	0.69993	0.3173	L	0.44542	1.39	0.58432	D	0.999993	P;P	0.45531	0.86;0.78	B;B	0.41271	0.352;0.192	T	0.72836	-0.4172	10	0.39692	T	0.17	.	13.6285	0.62181	0.0741:0.0:0.9259:0.0	.	555;539	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	S	555;539	ENSP00000378174:A555S;ENSP00000274938:A539S	ENSP00000274938:A539S	A	+	1	0	SCUBE3	35318457	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.195000	0.65131	2.568000	0.86640	0.650000	0.86243	GCC		0.622	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		36	104	1	0	1.03484e-13	1	1.49422e-13	36	104				
PCDHB4	56131	broad.mit.edu	37	5	140503477	140503477	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140503477G>T	ENST00000194152.1	+	1	1897	c.1897G>T	c.(1897-1899)Gac>Tac	p.D633Y		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGAGCGCGACGCAGCCAA	0.682																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1897-1899)Gac>Tac									27.0	27.0	27.0					5																	140503477		1942	3923	5865	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503477G>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1897G>T	5.37:g.140503477G>T	ENSP00000194152:p.Asp633Tyr						p.D633Y	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1897	+			633			Cadherin 6.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1897G>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995034	0.74703	.	.	ENSG00000081818	ENST00000194152	T	0.51817	0.69	4.12	4.12	0.48240	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77805	0.4185	H	0.95745	3.715	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.85773	0.1356	9	0.87932	D	0	.	16.5901	0.84763	0.0:0.0:1.0:0.0	.	633	Q9Y5E5	PCDB4_HUMAN	Y	633	ENSP00000194152:D633Y	ENSP00000194152:D633Y	D	+	1	0	PCDHB4	140483661	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.316000	0.72857	2.307000	0.77673	0.485000	0.47835	GAC		0.682	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		26	62	1	0	1.17739e-12	1	1.65052e-12	26	62				
MMP14	4323	broad.mit.edu	37	14	23311709	23311709	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:23311709G>T	ENST00000311852.6	+	4	732	c.471G>T	c.(469-471)ctG>ctT	p.L157L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	157					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CCACACCACTGCGCTTCCGCG	0.602																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(469-471)ctG>ctT		matrix metallopeptidase 14 (membrane-inserted)							81.0	56.0	64.0					14																	23311709		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23311709G>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.471G>T	14.37:g.23311709G>T						MMP14_ENST00000548162.1_3'UTR	p.L157L	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	732	+	all_cancers(95;9.47e-05)		157					A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.471G>T	CCDS9577.1																																																																																				0.602	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		6	50	1	0	0.00116845	1	0.00124037	6	50				
FAR1	84188	broad.mit.edu	37	11	13733495	13733495	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:13733495A>T	ENST00000354817.3	+	7	933	c.789A>T	c.(787-789)cgA>cgT	p.R263R	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	263					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAATTCTTCGAACAATACGTG	0.373																																						ENST00000354817.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(787-789)cgA>cgT		fatty acyl CoA reductase 1							98.0	89.0	92.0					11																	13733495		2200	4293	6493	SO:0001819	synonymous_variant	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13733495A>T	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.789A>T	11.37:g.13733495A>T						FAR1_ENST00000527202.1_3'UTR	p.R263R	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN			7	933	+			263					D3DQW8|Q5CZA3	Silent	SNP	ENST00000354817.3	37	c.789A>T	CCDS7813.1																																																																																				0.373	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2	NM_032228		8	27	0	0	0	1	0	8	27				
LRRFIP1	9208	broad.mit.edu	37	2	238642432	238642432	+	Intron	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:238642432A>G	ENST00000392000.4	+	4	366				LRRFIP1_ENST00000308482.9_Missense_Mutation_p.S154G|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTGTCTGTACAGCGCTGCCCG	0.582																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(460-462)Agc>Ggc		leucine rich repeat (in FLII) interacting protein 1							58.0	58.0	58.0					2																	238642432		1568	3582	5150	SO:0001627	intron_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238642432A>G	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.249+12967A>G	2.37:g.238642432A>G						LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron	p.S154G	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	9	529	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	0					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.460A>G	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	A	0.930	-0.712971	0.03206	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.52295	0.67	4.71	-2.79	0.05841	.	.	.	.	.	T	0.20780	0.0500	N	0.08118	0	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.19095	-1.0316	9	0.22109	T	0.4	.	4.7886	0.13238	0.4416:0.2897:0.2687:0.0	.	154	E9PGZ2	.	G	154;144	ENSP00000310109:S154G	ENSP00000310109:S154G	S	+	1	0	LRRFIP1	238307171	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.335000	0.07873	-0.279000	0.09167	-0.313000	0.08912	AGC		0.582	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		14	59	0	0	0	1	0	14	59				
CYP2A13	1553	broad.mit.edu	37	19	41594863	41594863	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:41594863C>T	ENST00000330436.3	+	2	210	c.210C>T	c.(208-210)acC>acT	p.T70T		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	70					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CTGTGTTCACCATTCACTTGG	0.627																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(208-210)acC>acT		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						92.0	85.0	88.0					19																	41594863		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594863C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.210C>T	19.37:g.41594863C>T							p.T70T	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			2	210	+			70					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.210C>T	CCDS12571.1																																																																																				0.627	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		29	76	0	0	0	1	0	29	76				
GAREM	64762	broad.mit.edu	37	18	29890206	29890206	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:29890206C>A	ENST00000269209.6	-	3	346	c.343G>T	c.(343-345)Gca>Tca	p.A115S	GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Missense_Mutation_p.A115S			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	115	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TCAGGAAATGCCTTAGCCACC	0.413																																						ENST00000399218.4																			0											c.(343-345)Gca>Tca		GRB2 associated, regulator of MAPK1							255.0	217.0	230.0					18																	29890206		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29890206C>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.343G>T	18.37:g.29890206C>A	ENSP00000269209:p.Ala115Ser					GAREM_ENST00000269209.6_Missense_Mutation_p.A115S|GAREM_ENST00000578619.1_5'UTR	p.A115S	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					3	398	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.343G>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007989	0.93287	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.13089	2.62;2.62	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.34521	1.04	0.80722	D	1	D;P	0.89917	1.0;0.715	D;P	0.87578	0.998;0.618	T	0.00907	-1.1519	10	0.56958	D	0.05	-17.1213	19.9625	0.97256	0.0:1.0:0.0:0.0	.	115;115	Q9H706;Q9H706-3	FA59A_HUMAN;.	S	115	ENSP00000382165:A115S;ENSP00000269209:A115S	ENSP00000269209:A115S	A	-	1	0	FAM59A	28144204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.420000	0.80191	2.726000	0.93360	0.655000	0.94253	GCA		0.413	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		31	91	1	0	3.03874e-20	1	4.90708e-20	31	91				
METTL17	64745	broad.mit.edu	37	14	21463373	21463373	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:21463373C>T	ENST00000339374.6	+	10	1159	c.926C>T	c.(925-927)gCc>gTc	p.A309V	RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Missense_Mutation_p.A309V|METTL17_ENST00000556670.2_Missense_Mutation_p.A309V	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	309					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTCATGGATGCCAGGGATCTG	0.453																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(925-927)gCc>gTc		methyltransferase like 17							214.0	186.0	196.0					14																	21463373		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21463373C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.926C>T	14.37:g.21463373C>T	ENSP00000343041:p.Ala309Val					METTL17_ENST00000556670.2_Missense_Mutation_p.A309V|METTL17_ENST00000382985.4_Missense_Mutation_p.A309V	p.A309V	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			10	1159	+			309					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.926C>T	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694064	0.68386	.	.	ENSG00000165792	ENST00000339374;ENST00000382985	T;T	0.32515	1.45;1.45	6.17	5.28	0.74379	.	0.053287	0.64402	N	0.000001	T	0.52725	0.1752	M	0.72576	2.205	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50684	-0.8799	10	0.30854	T	0.27	.	13.2422	0.60004	0.0:0.9239:0.0:0.0761	.	309;309;309	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	V	309	ENSP00000343041:A309V;ENSP00000372445:A309V	ENSP00000343041:A309V	A	+	2	0	METTL17	20533213	1.000000	0.71417	0.999000	0.59377	0.567000	0.35839	3.446000	0.52928	1.616000	0.50265	0.655000	0.94253	GCC		0.453	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		28	135	0	0	0	1	0	28	135				
PTGER3	5733	broad.mit.edu	37	1	71418708	71418708	+	3'UTR	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:71418708C>A	ENST00000414819.1	-	0	1461				PTGER3_ENST00000356595.4_Missense_Mutation_p.R380M|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|RP3-333A15.1_ENST00000426775.1_RNA	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TGcagttgccctctgtatctg	0.353																																						ENST00000356595.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1138-1140)aGg>aTg		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						184.0	165.0	171.0					1																	71418708		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71418708C>A	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000414819.1:c.*58G>T	1.37:g.71418708C>A						PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370931.3_Intron	p.R380M	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN			4	1349	-			0					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000414819.1	37	c.1139G>T	CCDS656.1	.	.	.	.	.	.	.	.	.	.	C	4.731	0.135885	0.09032	.	.	ENSG00000050628	ENST00000356595	T	0.12984	2.63	0.545	0.545	0.17190	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.04013	0.001	T	0.46162	-0.9211	8	0.48119	T	0.1	.	.	.	.	.	380	B1AK19	.	M	380	ENSP00000349003:R380M	ENSP00000349003:R380M	R	-	2	0	PTGER3	71191296	0.004000	0.15560	0.003000	0.11579	0.072000	0.16883	0.046000	0.14035	0.533000	0.28675	0.305000	0.20034	AGG		0.353	PTGER3-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026077.1	NM_000957		32	58	1	0	1.08312e-15	1	1.62824e-15	32	58				
ZNF845	91664	broad.mit.edu	37	19	53856450	53856450	+	Missense_Mutation	SNP	G	G	A	rs188811730		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53856450G>A	ENST00000595091.1	+	5	2741	c.2522G>A	c.(2521-2523)cGt>cAt	p.R841H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R841H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	841					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAGACCTTCCGTCACAATTCA	0.393													.|||	1	0.000199681	0.0	0.0	5008	,	,		22587	0.001		0.0	False		,,,				2504	0.0					ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2521-2523)cGt>cAt		zinc finger protein 845							45.0	41.0	42.0					19																	53856450		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856450G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2522G>A	19.37:g.53856450G>A	ENSP00000470005:p.Arg841His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R841H	p.R841H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2639	+			841						Missense_Mutation	SNP	ENST00000595091.1	37	c.2522G>A	CCDS46170.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.545	-0.092926	0.07053	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.18016	2.24	2.07	-4.13	0.03904	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15609	0.0376	L	0.51853	1.615	0.09310	N	1	P	0.39782	0.688	B	0.42995	0.404	T	0.23084	-1.0198	9	0.22109	T	0.4	.	8.936	0.35700	0.1344:0.2988:0.5668:0.0	.	841	Q96IR2	ZN845_HUMAN	H	841;757	ENSP00000388311:R841H	ENSP00000412086:R757H	R	+	2	0	ZNF845	58548262	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-12.886000	0.00001	-0.761000	0.04670	-0.514000	0.04452	CGT		0.393	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		12	52	0	0	0	1	0	12	52				
KDM4A	9682	broad.mit.edu	37	1	44128596	44128596	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:44128596G>T	ENST00000372396.3	+	5	595	c.461G>T	c.(460-462)aGa>aTa	p.R154I	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	154	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GGCCGGCTGAGAACAATCCTG	0.483																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(460-462)aGa>aTa		lysine (K)-specific demethylase 4A							187.0	160.0	169.0					1																	44128596		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44128596G>T	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.461G>T	1.37:g.44128596G>T	ENSP00000361473:p.Arg154Ile					KDM4A_ENST00000463151.1_3'UTR	p.R154I	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			5	595	+			154			JmjC.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.461G>T	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148675	0.57151	.	.	ENSG00000066135	ENST00000372396	T	0.71103	-0.54	5.88	0.803	0.18691	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.351936	0.37669	N	0.001990	T	0.52517	0.1739	L	0.28192	0.835	0.41080	D	0.985514	B;B	0.18013	0.02;0.025	B;B	0.11329	0.006;0.006	T	0.32052	-0.9921	10	0.35671	T	0.21	-13.2137	8.9944	0.36043	0.6646:0.0:0.3354:0.0	.	154;154	B4DT38;O75164	.;KDM4A_HUMAN	I	154	ENSP00000361473:R154I	ENSP00000361473:R154I	R	+	2	0	KDM4A	43901183	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	2.145000	0.42207	-0.103000	0.12175	0.557000	0.71058	AGA		0.483	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		19	77	1	0	5.03518e-11	1	6.76788e-11	19	77				
ARHGAP27	201176	broad.mit.edu	37	17	43483119	43483119	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:43483119C>A	ENST00000428638.1	-	2	987	c.988G>T	c.(988-990)Gac>Tac	p.D330Y	ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000528384.1_5'UTR|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.D130Y|ARHGAP27_ENST00000455881.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000376922.2_5'UTR			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	330	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TCGGCCTCGTCCTCCCAGGCC	0.692																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(388-390)Gac>Tac		Rho GTPase activating protein 27							22.0	22.0	22.0					17																	43483119		2201	4299	6500	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43483119C>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.988G>T	17.37:g.43483119C>A	ENSP00000403323:p.Asp330Tyr					ARHGAP27_ENST00000528384.1_5'UTR|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000455881.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D330Y|ARHGAP27_ENST00000376922.2_5'UTR	p.D130Y			Q6ZUM4	RHG27_HUMAN			2	523	-	Renal(3;0.0405)		330					A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.388G>T		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043263	0.55003	.	.	ENSG00000159314	ENST00000532038;ENST00000532891;ENST00000428638;ENST00000442348	D;T;T;T	0.83673	-1.75;3.74;3.74;0.91	4.21	4.21	0.49690	.	1.117940	0.07000	U	0.823188	D	0.88213	0.6376	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.58077	0.832	T	0.82045	-0.0652	9	0.42905	T	0.14	.	12.2333	0.54500	0.0:1.0:0.0:0.0	.	130	B7Z6T0	.	Y	130;330;330;330	ENSP00000432762:D130Y;ENSP00000433942:D330Y;ENSP00000403323:D330Y;ENSP00000409330:D330Y	ENSP00000403323:D330Y	D	-	1	0	ARHGAP27	40838902	0.999000	0.42202	1.000000	0.80357	0.198000	0.23893	2.593000	0.46180	2.339000	0.79563	0.561000	0.74099	GAC		0.692	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		8	16	1	0	0.00307968	1	0.00322431	8	16				
ZNF429	353088	broad.mit.edu	37	19	21720496	21720496	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:21720496C>G	ENST00000358491.4	+	4	1849	c.1641C>G	c.(1639-1641)aaC>aaG	p.N547K	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	547					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGCTTTTAACCGGTCCTCAA	0.373																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1639-1641)aaC>aaG		zinc finger protein 429							43.0	48.0	46.0					19																	21720496		2134	4270	6404	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720496C>G	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1641C>G	19.37:g.21720496C>G	ENSP00000351280:p.Asn547Lys					ZNF429_ENST00000597078.1_Intron	p.N547K	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1849	+			547					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1641C>G	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.028906	0.00410	.	.	ENSG00000197013	ENST00000358491	T	0.06849	3.25	0.876	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02455	0.0075	N	0.01705	-0.755	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.45381	-0.9265	9	0.19147	T	0.46	.	3.75	0.08563	0.3686:0.4336:0.1977:0.0	.	547	Q86V71	ZN429_HUMAN	K	547	ENSP00000351280:N547K	ENSP00000351280:N547K	N	+	3	2	ZNF429	21512336	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-4.755000	0.00190	-0.881000	0.03992	-0.876000	0.02978	AAC		0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		15	34	0	0	0	1	0	15	34				
TACR3	6870	broad.mit.edu	37	4	104640371	104640371	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:104640371G>C	ENST00000304883.2	-	1	602	c.462C>G	c.(460-462)ggC>ggG	p.G154G		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	154					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGTAGTTGGCGCCAAAGTACC	0.537																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(460-462)ggC>ggG		tachykinin receptor 3							90.0	84.0	86.0					4																	104640371		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640371G>C	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.462C>G	4.37:g.104640371G>C							p.G154G	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	602	-		Hepatocellular(203;0.217)	154					Q0P510	Silent	SNP	ENST00000304883.2	37	c.462C>G	CCDS3664.1																																																																																				0.537	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		19	34	0	0	0	1	0	19	34				
MYH2	4620	broad.mit.edu	37	17	10426819	10426819	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:10426819C>T	ENST00000245503.5	-	37	5850	c.5466G>A	c.(5464-5466)gaG>gaA	p.E1822E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.E1822E|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1822					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCACCCTGGCCTCCAGTTTCT	0.512																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5464-5466)gaG>gaA		myosin, heavy chain 2, skeletal muscle, adult							95.0	100.0	99.0					17																	10426819		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426819C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5466G>A	17.37:g.10426819C>T						MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.E1822E|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E1822E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			37	5850	-			1822					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.5466G>A	CCDS11156.1																																																																																				0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		31	100	0	0	0	1	0	31	100				
TAAR5	9038	broad.mit.edu	37	6	132910545	132910545	+	Missense_Mutation	SNP	C	C	A	rs201248908		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:132910545C>A	ENST00000258034.2	-	1	332	c.281G>T	c.(280-282)cGc>cTc	p.R94L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	94					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CTCCACTGAGCGAATGGTGCT	0.587																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(280-282)cGc>cTc		trace amine associated receptor 5							112.0	121.0	118.0					6																	132910545		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910545C>A	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.281G>T	6.37:g.132910545C>A	ENSP00000258034:p.Arg94Leu						p.R94L	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	332	-	Breast(56;0.112)		94					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.281G>T	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380460	0.61845	.	.	ENSG00000135569	ENST00000258034	T	0.35789	1.29	5.43	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.093498	0.44285	D	0.000477	T	0.31979	0.0814	L	0.58428	1.81	0.24021	N	0.996143	P	0.38395	0.629	P	0.47528	0.549	T	0.19451	-1.0305	10	0.87932	D	0	-17.3358	14.3146	0.66440	0.0:0.9291:0.0:0.0709	.	94	O14804	TAAR5_HUMAN	L	94	ENSP00000258034:R94L	ENSP00000258034:R94L	R	-	2	0	TAAR5	132952238	0.006000	0.16342	0.456000	0.27044	0.886000	0.51366	2.336000	0.43938	1.531000	0.49152	0.655000	0.94253	CGC		0.587	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		47	99	1	0	5.78141e-17	1	8.91098e-17	47	99				
LRRC7	57554	broad.mit.edu	37	1	70504192	70504192	+	Silent	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:70504192T>A	ENST00000035383.5	+	19	2601	c.2571T>A	c.(2569-2571)gcT>gcA	p.A857A	LRRC7_ENST00000310961.5_Silent_p.A862A|LRRC7_ENST00000415775.2_Silent_p.A141A	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	857						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGACCGCTTTTCCTTCCA	0.463																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2584-2586)gcT>gcA		leucine rich repeat containing 7							82.0	90.0	87.0					1																	70504192		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504192T>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2571T>A	1.37:g.70504192T>A						LRRC7_ENST00000035383.5_Silent_p.A857A|LRRC7_ENST00000415775.2_Silent_p.A141A	p.A862A			Q96NW7	LRRC7_HUMAN			22	3004	+			857					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.2586T>A	CCDS645.1																																																																																				0.463	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		27	76	0	0	0	1	0	27	76				
FAM122A	116224	broad.mit.edu	37	9	71395143	71395143	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:71395143G>C	ENST00000394264.3	+	1	180	c.63G>C	c.(61-63)gcG>gcC	p.A21A	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	21										endometrium(1)|lung(2)	3						GGAGCCCGGCGGAGGGCGGTG	0.721																																						ENST00000394264.3																			0				endometrium(1)|lung(2)	3						c.(61-63)gcG>gcC		family with sequence similarity 122A							7.0	11.0	10.0					9																	71395143		1945	3939	5884	SO:0001819	synonymous_variant	116224							g.chr9:71395143G>C	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.63G>C	9.37:g.71395143G>C						PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	p.A21A	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN			1	180	+			21						Silent	SNP	ENST00000394264.3	37	c.63G>C	CCDS6623.1																																																																																				0.721	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		14	19	0	0	0	1	0	14	19				
POTEG	404785	broad.mit.edu	37	14	19553629	19553629	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:19553629G>T	ENST00000409832.3	+	1	265	c.213G>T	c.(211-213)tgG>tgT	p.W71C		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	71										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTTCCCCTGGTGCAGGGGGA	0.587																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(211-213)tgG>tgT		POTE ankyrin domain family, member G							150.0	200.0	184.0					14																	19553629		2045	4131	6176	SO:0001583	missense	404785							g.chr14:19553629G>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.213G>T	14.37:g.19553629G>T	ENSP00000386971:p.Trp71Cys						p.W71C	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	265	+			71					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.213G>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.467940	0.00011	.	.	ENSG00000222036	ENST00000409832	T	0.25250	1.81	.	.	.	.	.	.	.	.	T	0.03959	0.0111	N	0.00436	-1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	7	0.02654	T	1	.	.	.	.	.	71	Q6S5H5	POTEG_HUMAN	C	71	ENSP00000386971:W71C	ENSP00000386971:W71C	W	+	3	0	POTEG	18623629	0.001000	0.12720	0.007000	0.13788	0.007000	0.05969	-1.485000	0.02314	-1.500000	0.01819	-1.513000	0.00942	TGG		0.587	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		207	980	1	0	4.3601e-43	1	7.35263e-43	207	980				
RYR2	6262	broad.mit.edu	37	1	237540622	237540622	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:237540622G>A	ENST00000366574.2	+	8	780		c.e8-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATATCTGCAGGGGAGGCTTG	0.423																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.e8-1		ryanodine receptor 2 (cardiac)							98.0	92.0	94.0					1																	237540622		1899	4129	6028	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237540622G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.464-1G>A	1.37:g.237540622G>A						RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site		NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		8	780	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)						Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37		CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356919	0.61293	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7834	0.85568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235607245	1.000000	0.71417	0.997000	0.53966	0.551000	0.35334	9.433000	0.97501	2.315000	0.78130	0.460000	0.39030	.		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Intron	5	26	0	0	0	1	0	5	26				
GIMAP8	155038	broad.mit.edu	37	7	150164341	150164341	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:150164341C>T	ENST00000307271.3	+	2	1129	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	185	AIG1-type G 1.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTTGGAGCTCCTTCGCAAGG	0.433																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(553-555)ctC>ctT		GTPase, IMAP family member 8							120.0	111.0	114.0					7																	150164341		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150164341C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.555C>T	7.37:g.150164341C>T							p.L185L	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	2	1129	+			185						Silent	SNP	ENST00000307271.3	37	c.555C>T	CCDS34777.1																																																																																				0.433	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		18	81	0	0	0	1	0	18	81				
ORM2	5005	broad.mit.edu	37	9	117092820	117092820	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:117092820C>G	ENST00000431067.2	+	2	257	c.221C>G	c.(220-222)aCa>aGa	p.T74R	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	74					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	CCCAACAAGACAGAGGACACG	0.512																																					NSCLC(65;867 1308 1814 2391 12508)	ENST00000431067.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						c.(220-222)aCa>aGa		orosomucoid 2							73.0	84.0	80.0					9																	117092820		2196	4299	6495	SO:0001583	missense	5005							g.chr9:117092820C>G		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.221C>G	9.37:g.117092820C>G	ENSP00000394936:p.Thr74Arg					ORM2_ENST00000412657.1_3'UTR	p.T74R	NM_000608.2	NP_000599.1					2	257	+		Myeloproliferative disorder(63;0.163)						B2R5L2|Q16571|Q5T538|Q6IB74	Missense_Mutation	SNP	ENST00000431067.2	37	c.221C>G	CCDS6804.1	.	.	.	.	.	.	.	.	.	.	-	12.25	1.880564	0.33255	.	.	ENSG00000228278	ENST00000431067	T	0.08282	3.11	3.11	-3.11	0.05299	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.728283	0.13631	N	0.373747	T	0.04815	0.0130	L	0.35723	1.085	0.09310	N	1	B	0.25235	0.121	B	0.23574	0.047	T	0.36915	-0.9728	10	0.31617	T	0.26	-6.0535	1.5466	0.02566	0.3489:0.2228:0.3108:0.1175	.	74	P19652	A1AG2_HUMAN	R	74	ENSP00000394936:T74R	ENSP00000394936:T74R	T	+	2	0	ORM2	116132641	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.362000	0.07602	-0.688000	0.05155	0.494000	0.49563	ACA		0.512	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		43	49	0	0	0	1	0	43	49				
ERGIC2	51290	broad.mit.edu	37	12	29509320	29509320	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:29509320C>A	ENST00000360150.4	-	8	642	c.567G>T	c.(565-567)gtG>gtT	p.V189V		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	189					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					CATACTTGCCCACTGTTATGT	0.388																																						ENST00000360150.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(565-567)gtG>gtT		ERGIC and golgi 2	Arsenic trioxide(DB01169)						137.0	135.0	136.0					12																	29509320		1850	4098	5948	SO:0001819	synonymous_variant	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29509320C>A	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.567G>T	12.37:g.29509320C>A							p.V189V	NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN			8	642	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		189					A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Silent	SNP	ENST00000360150.4	37	c.567G>T	CCDS41765.1	.	.	.	.	.	.	.	.	.	.	C	8.624	0.892020	0.17613	.	.	ENSG00000087502	ENST00000551467	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	T	0.70868	0.3273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70597	-0.4828	4	.	.	.	.	15.2611	0.73625	0.0:1.0:0.0:0.0	.	.	.	.	L	46	.	.	W	-	2	0	ERGIC2	29400587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.838000	0.39211	2.188000	0.69820	0.585000	0.79938	TGG		0.388	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1	NM_016570		16	70	1	0	8.34094e-07	1	9.86237e-07	16	70				
AGPS	8540	broad.mit.edu	37	2	178285020	178285020	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:178285020G>T	ENST00000264167.4	+	2	430	c.284G>T	c.(283-285)gGa>gTa	p.G95V	AGPS_ENST00000409888.1_Missense_Mutation_p.G95V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	95					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AAATGGAATGGATGGGGATAT	0.318																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(283-285)gGa>gTa		alkylglycerone phosphate synthase							142.0	159.0	153.0					2																	178285020		2203	4298	6501	SO:0001583	missense	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178285020G>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.284G>T	2.37:g.178285020G>T	ENSP00000264167:p.Gly95Val					AGPS_ENST00000409888.1_Missense_Mutation_p.G95V	p.G95V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		2	430	+			95					A5D8U9|Q2TU35	Missense_Mutation	SNP	ENST00000264167.4	37	c.284G>T	CCDS2275.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023178	0.54683	.	.	ENSG00000018510	ENST00000264167;ENST00000409888	T;T	0.41065	1.01;1.01	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76353	-0.2990	10	0.87932	D	0	.	15.3793	0.74641	0.0:0.0:0.8592:0.1408	.	95	O00116	ADAS_HUMAN	V	95	ENSP00000264167:G95V;ENSP00000386688:G95V	ENSP00000264167:G95V	G	+	2	0	AGPS	177993266	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.406000	0.90216	1.326000	0.45319	-0.282000	0.10007	GGA		0.318	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			18	58	1	0	1.22574e-08	1	1.54741e-08	18	58				
ZNF28	7576	broad.mit.edu	37	19	53311383	53311383	+	Missense_Mutation	SNP	G	G	C	rs540479937		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53311383G>C	ENST00000457749.2	-	3	138	c.19C>G	c.(19-21)Cta>Gta	p.L7V	ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_5'UTR|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000360272.4_5'Flank|ZNF28_ENST00000438150.2_5'Flank|ZNF28_ENST00000594602.1_Missense_Mutation_p.L7V	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AATGTCAATAGACCCTGAAAT	0.438													-|||	1	0.000199681	0.0	0.0	5008	,	,		17534	0.0		0.001	False		,,,				2504	0.0					ENST00000457749.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(19-21)Cta>Gta		zinc finger protein 28																																				SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53311383G>C	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.19C>G	19.37:g.53311383G>C	ENSP00000397693:p.Leu7Val					ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000594602.1_Missense_Mutation_p.L7V|ZNF28_ENST00000339844.6_5'UTR	p.L7V	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	138	-			7					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.19C>G	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.909	-0.719834	0.03182	.	.	ENSG00000198538	ENST00000457749	T	0.00882	5.58	1.87	-2.75	0.05914	Krueppel-associated box (1);	.	.	.	.	T	0.00845	0.0028	L	0.58101	1.795	0.09310	N	1	P	0.38767	0.646	B	0.31101	0.124	T	0.46261	-0.9204	9	0.16896	T	0.51	.	3.8358	0.08893	0.3188:0.2048:0.4764:0.0	.	7	P17035	ZNF28_HUMAN	V	7	ENSP00000397693:L7V	ENSP00000397693:L7V	L	-	1	2	ZNF28	58003195	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.517000	0.06275	-0.252000	0.09528	0.398000	0.26397	CTA		0.438	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		27	104	0	0	0	1	0	27	104				
ACKR1	2532	broad.mit.edu	37	1	159175965	159175965	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:159175965C>T	ENST00000368122.2	+	2	1415	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	DARC_ENST00000368121.2_Silent_p.L248L|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Silent_p.L246L	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		246					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GATGAATATCCTGTGGGCCTG	0.532																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(736-738)Ctg>Ttg		Duffy blood group, atypical chemokine receptor							97.0	97.0	97.0					1																	159175965		2203	4300	6503	SO:0001819	synonymous_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175965C>T																												ENST00000368122.2:c.736C>T	1.37:g.159175965C>T						DARC_ENST00000368121.2_Silent_p.L248L|DARC_ENST00000368122.2_Silent_p.L246L	p.L246L			Q16570	DUFFY_HUMAN			3	1579	+	all_hematologic(112;0.0429)		246					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	c.736C>T	CCDS1183.1																																																																																				0.532	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			15	113	0	0	0	1	0	15	113				
TRIM58	25893	broad.mit.edu	37	1	248020654	248020654	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248020654T>A	ENST00000366481.3	+	1	154	c.106T>A	c.(106-108)Tgc>Agc	p.C36S		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	36						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCACAGCTTCTGCCTCAGGTG	0.726																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(106-108)Tgc>Agc		tripartite motif containing 58							15.0	15.0	15.0					1																	248020654		2197	4292	6489	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248020654T>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.106T>A	1.37:g.248020654T>A	ENSP00000355437:p.Cys36Ser						p.C36S	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	154	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	36					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.106T>A	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731114	0.89390	.	.	ENSG00000162722	ENST00000366481	T	0.54479	0.57	4.47	4.47	0.54385	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.095769	0.47093	N	0.000248	T	0.80330	0.4603	H	0.96720	3.87	0.50313	D	0.999868	D	0.89917	1.0	D	0.97110	1.0	D	0.86114	0.1564	10	0.87932	D	0	.	12.0676	0.53596	0.0:0.0:0.0:1.0	.	36	Q8NG06	TRI58_HUMAN	S	36	ENSP00000355437:C36S	ENSP00000355437:C36S	C	+	1	0	TRIM58	246087277	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	7.106000	0.77039	2.027000	0.59764	0.528000	0.53228	TGC		0.726	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		4	19	0	0	0	1	0	4	19				
LAMB4	22798	broad.mit.edu	37	7	107688452	107688452	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:107688452G>T	ENST00000388781.3	-	28	4310	c.4227C>A	c.(4225-4227)caC>caA	p.H1409Q	LAMB4_ENST00000205386.4_Missense_Mutation_p.H1409Q|LAMB4_ENST00000388780.3_Missense_Mutation_p.H1409Q	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1409	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAGGGAGCCGTGACAGCCGG	0.562																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4225-4227)caC>caA		laminin, beta 4							67.0	72.0	71.0					7																	107688452		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107688452G>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4227C>A	7.37:g.107688452G>T	ENSP00000373433:p.His1409Gln					LAMB4_ENST00000388780.3_Missense_Mutation_p.H1409Q|LAMB4_ENST00000205386.4_Missense_Mutation_p.H1409Q	p.H1409Q	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			28	4310	-			1409			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4227C>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	6.838	0.523752	0.13066	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.29142	1.58;1.58;1.99;1.6	4.41	-8.83	0.00806	.	1.316830	0.05520	N	0.561876	T	0.11239	0.0274	N	0.08118	0	0.20307	N	0.999919	B;B	0.31752	0.009;0.338	B;B	0.25506	0.005;0.061	T	0.11717	-1.0576	10	0.27785	T	0.31	.	5.8311	0.18581	0.61:0.0906:0.2125:0.0869	.	1409;1409	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	Q	1409;1409;435;1409	ENSP00000205386:H1409Q;ENSP00000373433:H1409Q;ENSP00000416562:H435Q;ENSP00000373432:H1409Q	ENSP00000205386:H1409Q	H	-	3	2	LAMB4	107475688	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.568000	0.00214	-4.317000	0.00057	-1.333000	0.01266	CAC		0.562	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		26	72	1	0	3.28513e-13	1	4.66243e-13	26	72				
ASXL3	80816	broad.mit.edu	37	18	31325740	31325740	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:31325740T>C	ENST00000269197.5	+	12	5928	c.5928T>C	c.(5926-5928)agT>agC	p.S1976S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1976					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGAGGTTAGTCTTTCCTCAG	0.507																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5926-5928)agT>agC		additional sex combs like 3 (Drosophila)							130.0	133.0	132.0					18																	31325740		2057	4188	6245	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325740T>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5928T>C	18.37:g.31325740T>C							p.S1976S	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5928	+			1976					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.5928T>C	CCDS45847.1																																																																																				0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			26	98	0	0	0	1	0	26	98				
PTH2R	5746	broad.mit.edu	37	2	209307155	209307155	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:209307155G>A	ENST00000272847.2	+	5	691	c.478G>A	c.(478-480)Gct>Act	p.A160T	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	160					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.A160S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TGGTTCCTTGGCTGTGGCTAT	0.448																																						ENST00000272847.2																			1	Substitution - Missense(1)	p.A160S(1)	breast(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(478-480)Gct>Act		parathyroid hormone 2 receptor							381.0	319.0	340.0					2																	209307155		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209307155G>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.478G>A	2.37:g.209307155G>A	ENSP00000272847:p.Ala160Thr					PTH2R_ENST00000413482.1_3'UTR	p.A160T	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	5	691	+			160					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.478G>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	4.586	0.108876	0.08780	.	.	ENSG00000144407	ENST00000272847	T	0.37584	1.19	5.13	4.25	0.50352	GPCR, family 2-like (1);	0.136262	0.30410	U	0.009686	T	0.11665	0.0284	N	0.00788	-1.185	0.30035	N	0.813095	B;B	0.06786	0.0;0.001	B;B	0.11329	0.004;0.006	T	0.15178	-1.0446	10	0.12766	T	0.61	.	11.2119	0.48804	0.0904:0.0:0.9096:0.0	.	49;160	B4DFN8;P49190	.;PTH2R_HUMAN	T	160	ENSP00000272847:A160T	ENSP00000272847:A160T	A	+	1	0	PTH2R	209015400	0.982000	0.34865	0.988000	0.46212	0.420000	0.31355	1.843000	0.39259	1.162000	0.42619	0.655000	0.94253	GCT		0.448	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		14	147	0	0	0	1	0	14	147				
MGA	23269	broad.mit.edu	37	15	42042113	42042113	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:42042113A>C	ENST00000570161.1	+	16	6308	c.6308A>C	c.(6307-6309)aAa>aCa	p.K2103T	MGA_ENST00000389936.4_Missense_Mutation_p.K2064T|MGA_ENST00000219905.7_Missense_Mutation_p.K2103T|MGA_ENST00000545763.1_Missense_Mutation_p.K1894T|MGA_ENST00000566586.1_Missense_Mutation_p.K1894T			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATTTAAGTAAAGTACAGCAT	0.388																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6307-6309)aAa>aCa		MGA, MAX dimerization protein							69.0	63.0	65.0					15																	42042113		1835	4087	5922	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42042113A>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6308A>C	15.37:g.42042113A>C	ENSP00000457035:p.Lys2103Thr					MGA_ENST00000389936.4_Missense_Mutation_p.K2064T|MGA_ENST00000566586.1_Missense_Mutation_p.K1894T|MGA_ENST00000570161.1_Missense_Mutation_p.K2103T|MGA_ENST00000545763.1_Missense_Mutation_p.K1894T	p.K2103T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6489	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2064					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.6308A>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	A	3.251	-0.153357	0.06585	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84146	-1.81;-1.81;-1.81	4.23	1.78	0.24846	.	2.627730	0.01371	N	0.012583	T	0.76835	0.4043	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.17038	0.019;0.013;0.02;0.02	B;B;B;B	0.19391	0.016;0.025;0.024;0.024	T	0.63571	-0.6607	10	0.59425	D	0.04	.	8.1555	0.31167	0.8281:0.0:0.1719:0.0	.	719;1894;2103;2064	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	T	2103;2064;1894	ENSP00000219905:K2103T;ENSP00000374586:K2064T;ENSP00000442467:K1894T	ENSP00000219905:K2103T	K	+	2	0	MGA	39829405	0.000000	0.05858	0.014000	0.15608	0.850000	0.48378	-0.148000	0.10219	0.169000	0.19679	0.383000	0.25322	AAA		0.388	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		11	36	0	0	0	1	0	11	36				
DNAH7	56171	broad.mit.edu	37	2	196737029	196737029	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:196737029G>C	ENST00000312428.6	-	40	6678	c.6578C>G	c.(6577-6579)tCa>tGa	p.S2193*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2193					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCTGGTCTTGACAAACAAAC	0.378																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6577-6579)tCa>tGa		dynein, axonemal, heavy chain 7							139.0	126.0	130.0					2																	196737029		1847	4099	5946	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196737029G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6578C>G	2.37:g.196737029G>C	ENSP00000311273:p.Ser2193*						p.S2193*	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			40	6678	-			2193					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.6578C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	48	13.894555	0.99769	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	18.3783	0.90442	0.0:0.0:1.0:0.0	.	.	.	.	X	2193	.	ENSP00000311273:S2193X	S	-	2	0	DNAH7	196445274	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.530000	0.60595	2.508000	0.84585	0.650000	0.86243	TCA		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		16	58	0	0	0	1	0	16	58				
ZRANB2	9406	broad.mit.edu	37	1	71542499	71542499	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:71542499C>T	ENST00000370920.3	-	4	581	c.280G>A	c.(280-282)Gct>Act	p.A94T	ZRANB2_ENST00000254821.6_Missense_Mutation_p.A94T	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	94					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TCTAATTTAGCATACTTTGGA	0.299																																						ENST00000370920.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						c.(280-282)Gct>Act		zinc finger, RAN-binding domain containing 2							121.0	127.0	125.0					1																	71542499		2203	4298	6501	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71542499C>T	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.280G>A	1.37:g.71542499C>T	ENSP00000359958:p.Ala94Thr					ZRANB2_ENST00000254821.6_Missense_Mutation_p.A94T	p.A94T	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN			4	581	-			94					D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.280G>A	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246653	0.39697	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.76448	-1.02;-1.02	5.27	5.27	0.74061	Zinc finger, RanBP2-type (1);	0.000000	0.85682	D	0.000000	T	0.80465	0.4628	L	0.52573	1.65	0.80722	D	1	D;B	0.62365	0.991;0.335	D;B	0.77004	0.989;0.188	T	0.75368	-0.3342	10	0.16896	T	0.51	.	18.4967	0.90867	0.0:1.0:0.0:0.0	.	94;94	O95218;O95218-2	ZRAB2_HUMAN;.	T	94	ENSP00000359958:A94T;ENSP00000254821:A94T	ENSP00000254821:A94T	A	-	1	0	ZRANB2	71315087	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	7.287000	0.78681	2.474000	0.83562	0.467000	0.42956	GCT		0.299	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		8	45	0	0	0	1	0	8	45				
GPR98	84059	broad.mit.edu	37	5	89989858	89989858	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:89989858G>A	ENST00000405460.2	+	33	7381	c.7285G>A	c.(7285-7287)Gtc>Atc	p.V2429I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2429					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGATGAATGTCTCTGCCGT	0.498																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7285-7287)Gtc>Atc		G protein-coupled receptor 98							84.0	81.0	82.0					5																	89989858		1916	4120	6036	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89989858G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7285G>A	5.37:g.89989858G>A	ENSP00000384582:p.Val2429Ile						p.V2429I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7381	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2429					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7285G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	3.022	-0.201448	0.06219	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.30182	1.54	5.92	2.18	0.27775	.	0.275437	0.41712	N	0.000832	T	0.21761	0.0524	L	0.46741	1.465	0.80722	D	1	P;P	0.40360	0.714;0.671	B;B	0.32393	0.138;0.145	T	0.02326	-1.1176	10	0.36615	T	0.2	.	10.3833	0.44125	0.2551:0.0:0.7449:0.0	.	2429;2429	E7ETI5;Q8WXG9	.;GPR98_HUMAN	I	2429	ENSP00000384582:V2429I	ENSP00000296619:V2429I	V	+	1	0	GPR98	90025614	1.000000	0.71417	0.791000	0.31998	0.003000	0.03518	2.354000	0.44098	0.117000	0.18138	0.655000	0.94253	GTC		0.498	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	14	0	0	0	1	0	5	14				
NR2E1	7101	broad.mit.edu	37	6	108492688	108492688	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:108492688G>T	ENST00000368986.4	+	2	760	c.52G>T	c.(52-54)Gtg>Ttg	p.V18L	NR2E1_ENST00000368983.3_Missense_Mutation_p.V55L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	18					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCCCTGCAAAGTGTGTGGCGA	0.577																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(52-54)Gtg>Ttg		nuclear receptor subfamily 2, group E, member 1							126.0	134.0	131.0					6																	108492688		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108492688G>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.52G>T	6.37:g.108492688G>T	ENSP00000357982:p.Val18Leu					NR2E1_ENST00000368983.3_Missense_Mutation_p.V55L	p.V18L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	2	760	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	18					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.52G>T	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415035	0.96092	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.98264	-4.83;-4.83	5.32	5.32	0.75619	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98415	1.0574	10	0.87932	D	0	.	18.607	0.91270	0.0:0.0:1.0:0.0	.	18	Q9Y466	NR2E1_HUMAN	L	18;55	ENSP00000357982:V18L;ENSP00000357979:V55L	ENSP00000357979:V55L	V	+	1	0	NR2E1	108599381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.501000	0.84356	0.655000	0.94253	GTG		0.577	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			38	159	1	0	1.59361e-14	1	2.3455e-14	38	159				
TG	7038	broad.mit.edu	37	8	133909916	133909916	+	Silent	SNP	C	C	G	rs143929015		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:133909916C>G	ENST00000220616.4	+	12	3064	c.3024C>G	c.(3022-3024)cgC>cgG	p.R1008R	TG_ENST00000377869.1_Silent_p.R1008R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1008	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATCAGAGACGCCGCTTTTCCC	0.567																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3022-3024)cgC>cgG		thyroglobulin							117.0	124.0	121.0					8																	133909916		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133909916C>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3024C>G	8.37:g.133909916C>G						TG_ENST00000377869.1_Silent_p.R1008R	p.R1008R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	12	3064	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1008			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.3024C>G	CCDS34944.1																																																																																				0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		48	266	0	0	0	1	0	48	266				
TRIM37	4591	broad.mit.edu	37	17	57158574	57158574	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:57158574C>G	ENST00000262294.7	-	6	635	c.376G>C	c.(376-378)Gga>Cga	p.G126R	TRIM37_ENST00000393066.3_Missense_Mutation_p.G126R|TRIM37_ENST00000393065.2_Missense_Mutation_p.G92R|TRIM37_ENST00000376149.3_Missense_Mutation_p.G4R	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	126					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AAGGTATGTCCGCCATGCTAT	0.383									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(10-12)Gga>Cga		tripartite motif containing 37							100.0	100.0	100.0					17																	57158574		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57158574C>G	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.376G>C	17.37:g.57158574C>G	ENSP00000262294:p.Gly126Arg					TRIM37_ENST00000262294.7_Missense_Mutation_p.G126R|TRIM37_ENST00000393066.3_Missense_Mutation_p.G126R|TRIM37_ENST00000393065.2_Missense_Mutation_p.G92R	p.G4R			O94972	TRI37_HUMAN			6	819	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		126					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.10G>C	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000417	0.93227	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.66460	0.22;0.22;-0.21;0.22	5.62	5.62	0.85841	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	M	0.77820	2.39	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.883	D;D;P	0.97110	0.99;1.0;0.841	D	0.83490	0.0069	10	0.56958	D	0.05	-41.9171	18.2379	0.89956	0.0:1.0:0.0:0.0	.	92;4;126	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	R	126;126;4;92	ENSP00000376785:G126R;ENSP00000262294:G126R;ENSP00000365319:G4R;ENSP00000376784:G92R	ENSP00000262294:G126R	G	-	1	0	TRIM37	54513356	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.647000	0.83462	2.661000	0.90470	0.650000	0.86243	GGA		0.383	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		25	69	0	0	0	1	0	25	69				
KRTAP13-3	337960	broad.mit.edu	37	21	31797870	31797870	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:31797870C>A	ENST00000390690.2	-	1	416	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	121						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GATCCACAGCCCAGTGAGGAG	0.493																																						ENST00000390690.2																			0				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(361-363)Ggc>Tgc		keratin associated protein 13-3							42.0	45.0	44.0					21																	31797870		2108	4265	6373	SO:0001583	missense	337960					intermediate filament		g.chr21:31797870C>A	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.361G>T	21.37:g.31797870C>A	ENSP00000375109:p.Gly121Cys						p.G121C	NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN			1	416	-			121					Q3LI78	Missense_Mutation	SNP	ENST00000390690.2	37	c.361G>T	CCDS13591.1	.	.	.	.	.	.	.	.	.	.	c	13.77	2.334914	0.41297	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.04119	3.7	4.69	2.84	0.33178	.	1.054670	0.07564	U	0.917488	T	0.22085	0.0532	M	0.81942	2.565	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.06180	-1.0841	10	0.87932	D	0	-7.2044	8.3629	0.32369	0.0:0.8061:0.0:0.1939	.	121	Q3SY46	KR133_HUMAN	C	121;111	ENSP00000375109:G121C	ENSP00000375109:G121C	G	-	1	0	KRTAP13-3	30719741	0.001000	0.12720	0.035000	0.18076	0.002000	0.02628	0.233000	0.17911	0.632000	0.30432	-0.224000	0.12420	GGC		0.493	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			9	21	1	0	3.86212e-05	1	4.32066e-05	9	21				
AGMO	392636	broad.mit.edu	37	7	15425169	15425169	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:15425169G>T	ENST00000342526.3	-	10	1145	c.976C>A	c.(976-978)Ccc>Acc	p.P326T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	326					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GATGAGAAGGGAACTTCTTTG	0.368																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(976-978)Ccc>Acc		alkylglycerol monooxygenase							98.0	96.0	97.0					7																	15425169		2203	4300	6503	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15425169G>T		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.976C>A	7.37:g.15425169G>T	ENSP00000341662:p.Pro326Thr						p.P326T	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			10	1145	-			326					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.976C>A	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	G	9.431	1.085445	0.20390	.	.	ENSG00000187546	ENST00000342526	T	0.30448	1.53	5.47	3.55	0.40652	.	0.183812	0.48767	D	0.000174	T	0.36826	0.0981	M	0.73962	2.25	0.45378	D	0.998362	B	0.16802	0.019	B	0.15484	0.013	T	0.24012	-1.0172	10	0.45353	T	0.12	-9.1924	16.2986	0.82793	0.0:0.2973:0.7027:0.0	.	326	Q6ZNB7	ALKMO_HUMAN	T	326	ENSP00000341662:P326T	ENSP00000341662:P326T	P	-	1	0	AGMO	15391694	1.000000	0.71417	0.985000	0.45067	0.522000	0.34438	2.939000	0.48995	0.642000	0.30620	0.655000	0.94253	CCC		0.368	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		19	39	1	0	1.01871e-10	1	1.35138e-10	19	39				
DHRS7C	201140	broad.mit.edu	37	17	9674818	9674818	+	Missense_Mutation	SNP	G	G	T	rs199708738		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:9674818G>T	ENST00000330255.5	-	6	938	c.926C>A	c.(925-927)cCg>cAg	p.P309Q	DHRS7C_ENST00000571134.1_Missense_Mutation_p.P308Q	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	309					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CCCCTCCTCCGGGACATTGAG	0.602																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(925-927)cCg>cAg		dehydrogenase/reductase (SDR family) member 7C							37.0	41.0	40.0					17																	9674818		1997	4155	6152	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9674818G>T		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.926C>A	17.37:g.9674818G>T	ENSP00000327975:p.Pro309Gln					DHRS7C_ENST00000571134.1_Missense_Mutation_p.P308Q	p.P309Q	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			6	938	-			309					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.926C>A	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	G	5.120	0.207852	0.09704	.	.	ENSG00000184544	ENST00000330255	D	0.86097	-2.07	5.5	5.5	0.81552	.	0.105572	0.64402	D	0.000008	T	0.70037	0.3178	N	0.08118	0	0.09310	N	0.999999	B;B	0.29341	0.242;0.242	B;B	0.25987	0.065;0.065	T	0.61422	-0.7066	10	0.36615	T	0.2	.	11.6455	0.51259	0.0:0.0:0.7262:0.2738	.	309;305	A6NNS2;B9EJH3	DRS7C_HUMAN;.	Q	309	ENSP00000327975:P309Q	ENSP00000327975:P309Q	P	-	2	0	DHRS7C	9615543	0.997000	0.39634	0.544000	0.28141	0.128000	0.20619	2.727000	0.47311	2.854000	0.98071	0.655000	0.94253	CCG		0.602	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		4	18	1	0	0.000602214	1	0.00064528	4	18				
DDX52	11056	broad.mit.edu	37	17	35985972	35985972	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:35985972C>A	ENST00000349699.2	-	8	1148	c.1105G>T	c.(1105-1107)Gac>Tac	p.D369Y	DDX52_ENST00000394367.3_Missense_Mutation_p.D261Y	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	369	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ATGACATTGTCCAGGTTGAGT	0.388																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.(1105-1107)Gac>Tac		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							168.0	140.0	150.0					17																	35985972		2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35985972C>A	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1105G>T	17.37:g.35985972C>A	ENSP00000268854:p.Asp369Tyr					DDX52_ENST00000394367.3_Missense_Mutation_p.D261Y	p.D369Y	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN			8	1148	-		Breast(25;0.00637)|Ovarian(249;0.15)	369			Helicase ATP-binding.		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.1105G>T	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628412	0.87560	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.05081	3.5;3.5	5.8	5.8	0.92144	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.18551	0.0445	L	0.41906	1.305	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.00061	-1.2161	10	0.66056	D	0.02	-14.2494	19.0512	0.93046	0.0:1.0:0.0:0.0	.	369	Q9Y2R4	DDX52_HUMAN	Y	369;261	ENSP00000268854:D369Y;ENSP00000377893:D261Y	ENSP00000268854:D369Y	D	-	1	0	DDX52	33060085	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.270000	0.78493	2.741000	0.93983	0.650000	0.86243	GAC		0.388	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		20	65	1	0	3.10358e-05	1	3.48914e-05	20	65				
MTMR11	10903	broad.mit.edu	37	1	149906880	149906880	+	Splice_Site	SNP	T	T	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:149906880T>G	ENST00000439741.2	-	5	717	c.467A>C	c.(466-468)cAg>cCg	p.Q156P	MTMR11_ENST00000361405.6_Splice_Site_p.Q156P|MTMR11_ENST00000406732.3_Splice_Site_p.Q128P|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Splice_Site_p.Q84P	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	156							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCCTCTTACCTGAAAAGCCTG	0.532																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.e5+1		myotubularin related protein 11							28.0	31.0	30.0					1																	149906880		2203	4300	6503	SO:0001630	splice_region_variant	10903						phosphatase activity	g.chr1:149906880T>G	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.468+1A>C	1.37:g.149906880T>G						MTMR11_ENST00000369140.3_Splice_Site_p.Q84_splice|MTMR11_ENST00000361405.6_Splice_Site_p.Q156_splice|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Splice_Site_p.Q128_splice	p.Q156_splice	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		5	717	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		156					B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Splice_Site	SNP	ENST00000439741.2	37	c.468_splice	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547630	0.45383	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000361405;ENST00000406732	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.37	4.23	0.50019	.	0.529653	0.19091	N	0.122976	T	0.72938	0.3523	L	0.51422	1.61	0.37227	D	0.905523	P;P;P	0.52316	0.898;0.952;0.92	P;P;B	0.47075	0.453;0.536;0.335	T	0.74318	-0.3704	10	0.41790	T	0.15	.	8.461	0.32927	0.0:0.0973:0.0:0.9027	.	128;84;156	A4FU01-6;A4FU01-4;A4FU01	.;.;MTMRB_HUMAN	P	84;156;156;128	ENSP00000358136:Q84P;ENSP00000391668:Q156P;ENSP00000354941:Q156P;ENSP00000383948:Q128P	ENSP00000354941:Q156P	Q	-	2	0	MTMR11	148173504	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.768000	0.38511	2.251000	0.74343	0.528000	0.53228	CAG		0.532	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873	Missense_Mutation	9	36	0	0	0	1	0	9	36				
HNRNPDL	9987	broad.mit.edu	37	4	83347216	83347216	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:83347216T>C	ENST00000295470.5	-	7	1434	c.1259A>G	c.(1258-1260)tAc>tGc	p.Y420C	HNRNPDL_ENST00000502762.1_Missense_Mutation_p.Y420C|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.Y244C|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.Y301C	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	420	Necessary for interaction with TNPO1.|Necessary for its nuclear import and export.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										TCTCCTTTAGTATGGCTGGTA	0.363																																						ENST00000295470.5																			0											c.(1258-1260)tAc>tGc		heterogeneous nuclear ribonucleoprotein D-like							135.0	124.0	128.0					4																	83347216		2203	4300	6503	SO:0001583	missense	9987							g.chr4:83347216T>C	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1259A>G	4.37:g.83347216T>C	ENSP00000295470:p.Tyr420Cys					HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.Y420C|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.Y244C|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.Y301C	p.Y420C	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1					7	1434	-								Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.1259A>G	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	t	15.69	2.907583	0.52333	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;T	0.78126	-1.15;-1.15;-0.29	5.77	5.77	0.91146	.	0.065412	0.64402	D	0.000007	D	0.87466	0.6184	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.88760	0.3256	10	0.87932	D	0	.	16.0836	0.81023	0.0:0.0:0.0:1.0	.	244;420	O14979-3;O14979	.;HNRDL_HUMAN	C	420;420;244	ENSP00000295470:Y420C;ENSP00000422040:Y420C;ENSP00000338552:Y244C	ENSP00000295470:Y420C	Y	-	2	0	HNRPDL	83566240	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.438000	0.80431	2.196000	0.70406	0.528000	0.53228	TAC		0.363	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		12	61	0	0	0	1	0	12	61				
PC	5091	broad.mit.edu	37	11	66631301	66631301	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:66631301T>C	ENST00000393958.2	-	11	1405	c.1312A>G	c.(1312-1314)Acg>Gcg	p.T438A	PC_ENST00000393955.2_Missense_Mutation_p.T438A|PC_ENST00000393960.1_Missense_Mutation_p.T438A|PC_ENST00000524491.1_Missense_Mutation_p.T398A|PC_ENST00000355677.3_Missense_Mutation_p.T438A	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	438	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGGCGGCCGTGGGGTGGTCT	0.647																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1312-1314)Acg>Gcg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						142.0	128.0	132.0					11																	66631301		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66631301T>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1312A>G	11.37:g.66631301T>C	ENSP00000377530:p.Thr438Ala					PC_ENST00000524491.1_Missense_Mutation_p.T398A|PC_ENST00000355677.3_Missense_Mutation_p.T438A|PC_ENST00000393958.2_Missense_Mutation_p.T438A|PC_ENST00000393955.2_Missense_Mutation_p.T438A	p.T438A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	12	1593	-		Melanoma(852;0.0525)	438			Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.1312A>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	T	6.726	0.502765	0.12822	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	5.54	5.54	0.83059	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.296773	0.32055	N	0.006649	T	0.60117	0.2244	N	0.03608	-0.345	0.36125	D	0.845737	B	0.02656	0.0	B	0.08055	0.003	T	0.61917	-0.6964	10	0.18710	T	0.47	-20.6849	13.6048	0.62041	0.0:0.0:0.0:1.0	.	438	P11498	PYC_HUMAN	A	438;438;438;398;438	ENSP00000377527:T438A;ENSP00000377530:T438A;ENSP00000377532:T438A;ENSP00000434192:T398A;ENSP00000347900:T438A	ENSP00000347900:T438A	T	-	1	0	PC	66387877	1.000000	0.71417	0.980000	0.43619	0.498000	0.33706	2.127000	0.42035	2.103000	0.63969	0.454000	0.30748	ACG		0.647	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		37	140	0	0	0	1	0	37	140				
OR4N2	390429	broad.mit.edu	37	14	20296315	20296315	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20296315C>A	ENST00000315947.1	+	1	708	c.708C>A	c.(706-708)gcC>gcA	p.A236A	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAACAAGGCCATGTCCACGT	0.507																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(706-708)gcC>gcA		olfactory receptor, family 4, subfamily N, member 2							108.0	109.0	109.0					14																	20296315		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296315C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.708C>A	14.37:g.20296315C>A						OR4N2_ENST00000568211.1_3'UTR	p.A236A	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	708	+	all_cancers(95;0.00108)		236					Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.708C>A	CCDS32022.1																																																																																				0.507	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			61	203	1	0	6.176e-18	1	9.66586e-18	61	203				
CUX2	23316	broad.mit.edu	37	12	111744752	111744752	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:111744752G>T	ENST00000261726.6	+	11	1040	c.886G>T	c.(886-888)Ggc>Tgc	p.G296C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	296					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCTGTGCTCGGGCCCTCGGCT	0.647																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(886-888)Ggc>Tgc		cut-like homeobox 2							69.0	74.0	72.0					12																	111744752		1941	4125	6066	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111744752G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.886G>T	12.37:g.111744752G>T	ENSP00000261726:p.Gly296Cys						p.G296C	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			11	1040	+			296					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.886G>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521794	0.44866	.	.	ENSG00000111249	ENST00000261726	T	0.46451	0.87	5.32	5.32	0.75619	.	0.311148	0.33980	N	0.004373	T	0.59542	0.2201	L	0.54323	1.7	0.40972	D	0.984708	D	0.76494	0.999	D	0.63957	0.92	T	0.60885	-0.7174	10	0.52906	T	0.07	-30.4998	18.5941	0.91224	0.0:0.0:1.0:0.0	.	296	O14529	CUX2_HUMAN	C	296	ENSP00000261726:G296C	ENSP00000261726:G296C	G	+	1	0	CUX2	110229135	1.000000	0.71417	0.040000	0.18447	0.090000	0.18270	6.582000	0.74049	2.492000	0.84095	0.655000	0.94253	GGC		0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		26	96	1	0	2.48779e-11	1	3.37366e-11	26	96				
SPANXN1	494118	broad.mit.edu	37	X	144337333	144337333	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:144337333G>T	ENST00000370493.3	+	2	977	c.218G>T	c.(217-219)tGa>tTa	p.*73L		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	0										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GACCAGTCCTGAGAGAACTCC	0.423																																						ENST00000370493.3																			0				endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(217-219)tGa>tTa		SPANX family, member N1							182.0	157.0	166.0					X																	144337333		2203	4296	6499	SO:0001578	stop_lost	494118							g.chrX:144337333G>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.218G>T	X.37:g.144337333G>T	ENSP00000359524:p.*73Leuext*?						p.*73L	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	977	+	Acute lymphoblastic leukemia(192;6.56e-05)		0						Nonstop_Mutation	SNP	ENST00000370493.3	37	c.218G>T	CCDS35421.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.090269	0.00367	.	.	ENSG00000203923	ENST00000370493	.	.	.	1.05	-2.1	0.07210	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4236	0.21758	0.0:0.4236:0.5764:0.0	.	.	.	.	L	73	.	.	X	+	2	2	SPANXN1	144145025	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.948000	0.01533	-1.799000	0.01248	-1.897000	0.00531	TGA		0.423	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		17	102	1	0	1.45105e-14	1	2.14605e-14	17	102				
LMX1B	4010	broad.mit.edu	37	9	129377708	129377708	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:129377708C>T	ENST00000373474.4	+	2	193	c.186C>T	c.(184-186)ccC>ccT	p.P62P	LMX1B_ENST00000561065.1_Silent_p.P39P|LMX1B_ENST00000355497.5_Silent_p.P62P|LMX1B_ENST00000425646.2_Silent_p.P39P|LMX1B_ENST00000526117.1_Silent_p.P62P|RP11-123K19.1_ENST00000432418.1_RNA|RP11-123K19.1_ENST00000425370.1_RNA|RP11-123K19.1_ENST00000451449.2_RNA			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	62	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCCAGCGGCCCATCTCCGACC	0.701									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15	GRCh37	CD012852	LMX1B	D		c.(184-186)ccC>ccT		LIM homeobox transcription factor 1, beta							43.0	41.0	42.0					9																	129377708		2203	4300	6503	SO:0001819	synonymous_variant	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129377708C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.186C>T	9.37:g.129377708C>T						LMX1B_ENST00000561065.1_Silent_p.P39P|LMX1B_ENST00000526117.1_Silent_p.P62P|LMX1B_ENST00000373474.4_Silent_p.P62P|LMX1B_ENST00000425646.2_Silent_p.P39P	p.P62P	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN			2	193	+			39			LIM zinc-binding 1.		F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.186C>T	CCDS55342.1																																																																																				0.701	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			21	16	0	0	0	1	0	21	16				
TMEM175	84286	broad.mit.edu	37	4	946235	946235	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:946235G>C	ENST00000264771.4	+	7	644	c.459G>C	c.(457-459)gtG>gtC	p.V153V	TMEM175_ENST00000508204.1_Silent_p.V71V|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Silent_p.V37V	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	153						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TTGGGGTCGTGCAGGTAGGGG	0.532																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(457-459)gtG>gtC		transmembrane protein 175							155.0	138.0	144.0					4																	946235		2203	4300	6503	SO:0001819	synonymous_variant	84286					integral to membrane		g.chr4:946235G>C	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.459G>C	4.37:g.946235G>C						TMEM175_ENST00000515740.1_Silent_p.V37V|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Silent_p.V71V	p.V153V	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	644	+			153					D3DVN4|Q8ND13	Silent	SNP	ENST00000264771.4	37	c.459G>C	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	g	1.218	-0.627658	0.03610	.	.	ENSG00000127419	ENST00000505148	.	.	.	4.77	1.59	0.23543	.	.	.	.	.	T	0.42720	0.1215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21143	-1.0254	4	.	.	.	-4.5756	1.6311	0.02732	0.1229:0.1429:0.3841:0.3501	.	.	.	.	P	45	.	.	A	+	1	0	TMEM175	936235	0.996000	0.38824	0.863000	0.33907	0.089000	0.18198	0.249000	0.18216	0.022000	0.15160	0.478000	0.44815	GCA		0.532	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		25	144	0	0	0	1	0	25	144				
SS18	6760	broad.mit.edu	37	18	23612435	23612435	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:23612435C>T	ENST00000415083.2	-	10	1213	c.1158G>A	c.(1156-1158)caG>caA	p.Q386Q	SS18_ENST00000545952.1_Silent_p.Q303Q|SS18_ENST00000542743.1_Silent_p.Q303Q|SS18_ENST00000539849.1_Silent_p.Q304Q|SS18_ENST00000542420.2_Silent_p.Q363Q|SS18_ENST00000269137.7_Silent_p.Q355Q	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	386	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATCCTCCATACTGCTGACCTT	0.493			T	"""SSX1,  SSX2"""	synovial sarcoma																																	ENST00000415083.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	"""SSX1,  SSX2"""		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(1156-1158)caG>caA		synovial sarcoma translocation, chromosome 18							246.0	204.0	218.0					18																	23612435		2203	4300	6503	SO:0001819	synonymous_variant	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23612435C>T	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.1158G>A	18.37:g.23612435C>T						SS18_ENST00000269137.7_Silent_p.Q355Q|SS18_ENST00000545952.1_Silent_p.Q303Q|SS18_ENST00000539849.1_Silent_p.Q304Q|SS18_ENST00000542743.1_Silent_p.Q303Q|SS18_ENST00000542420.2_Silent_p.Q363Q	p.Q386Q	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN			10	1213	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		386			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Silent	SNP	ENST00000415083.2	37	c.1158G>A	CCDS32807.1																																																																																				0.493	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			24	75	0	0	0	1	0	24	75				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		4	23	0	0	0	1	0	4	23				
MKRN3	7681	broad.mit.edu	37	15	23811081	23811081	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:23811081C>A	ENST00000314520.3	+	1	628	c.152C>A	c.(151-153)gCg>gAg	p.A51E	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.A51E|MKRN3_ENST00000568252.1_Missense_Mutation_p.A51E	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	51					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGCCACATGCGGCAAGGGGC	0.692																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(151-153)gCg>gAg		makorin ring finger protein 3							32.0	36.0	34.0					15																	23811081		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811081C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.152C>A	15.37:g.23811081C>A	ENSP00000313881:p.Ala51Glu					MKRN3_ENST00000568252.1_Missense_Mutation_p.A51E|MKRN3_ENST00000564592.1_Missense_Mutation_p.A51E	p.A51E	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	628	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	51						Missense_Mutation	SNP	ENST00000314520.3	37	c.152C>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	11.62	1.692256	0.30052	.	.	ENSG00000179455	ENST00000314520	T	0.28666	1.6	2.73	-2.96	0.05547	.	.	.	.	.	T	0.09774	0.0240	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.32666	-0.9898	9	0.02654	T	1	.	3.3391	0.07111	0.1927:0.3821:0.0:0.4252	.	51;51	Q6NSB6;Q13064	.;MKRN3_HUMAN	E	51	ENSP00000313881:A51E	ENSP00000313881:A51E	A	+	2	0	MKRN3	21362174	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.527000	0.06200	-0.703000	0.05049	-0.440000	0.05779	GCG		0.692	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		15	45	1	0	1.5739e-10	1	2.07283e-10	15	45				
DNAH10	196385	broad.mit.edu	37	12	124293437	124293437	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:124293437C>T	ENST00000409039.3	+	18	2752	c.2727C>T	c.(2725-2727)ccC>ccT	p.P909P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	909	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCTTCATCCCAACACAAATG	0.483																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2725-2727)ccC>ccT		dynein, axonemal, heavy chain 10							331.0	285.0	300.0					12																	124293437		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124293437C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2727C>T	12.37:g.124293437C>T							p.P909P	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	18	2752	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		909			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.2727C>T	CCDS9255.2																																																																																				0.483	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			66	213	0	0	0	1	0	66	213				
GRIN2D	2906	broad.mit.edu	37	19	48946544	48946544	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:48946544C>T	ENST00000263269.3	+	13	3449	c.3361C>T	c.(3361-3363)Ctg>Ttg	p.L1121L	GRWD1_ENST00000253237.5_5'Flank	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	1121					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCGGAGAGCCTGGGCGGCGC	0.771																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(3361-3363)Ctg>Ttg		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						8.0	9.0	8.0					19																	48946544		1733	3656	5389	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48946544C>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.3361C>T	19.37:g.48946544C>T							p.L1121L	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	13	3449	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	1121						Silent	SNP	ENST00000263269.3	37	c.3361C>T	CCDS12719.1																																																																																				0.771	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			3	12	0	0	0	1	0	3	12				
IGSF10	285313	broad.mit.edu	37	3	151165357	151165357	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:151165357C>A	ENST00000282466.3	-	4	2411	c.2412G>T	c.(2410-2412)gaG>gaT	p.E804D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	804					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCATAAATTCCTCATGTAGAG	0.478																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2410-2412)gaG>gaT		immunoglobulin superfamily, member 10							108.0	107.0	107.0					3																	151165357		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165357C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2412G>T	3.37:g.151165357C>A	ENSP00000282466:p.Glu804Asp						p.E804D	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2411	-			804					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2412G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264567	0.39995	.	.	ENSG00000152580	ENST00000282466	T	0.71103	-0.54	5.31	3.13	0.36017	.	0.000000	0.48286	D	0.000192	T	0.52885	0.1762	N	0.14661	0.345	0.28773	N	0.900257	P	0.42409	0.779	B	0.42282	0.382	T	0.53507	-0.8429	10	0.59425	D	0.04	.	8.29	0.31952	0.0:0.6951:0.0:0.3049	.	804	Q6WRI0	IGS10_HUMAN	D	804	ENSP00000282466:E804D	ENSP00000282466:E804D	E	-	3	2	IGSF10	152648047	0.705000	0.27846	0.913000	0.36048	0.107000	0.19398	-0.212000	0.09319	1.204000	0.43247	0.591000	0.81541	GAG		0.478	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		18	88	1	0	1.56452e-12	1	2.18317e-12	18	88				
PTH2R	5746	broad.mit.edu	37	2	209358198	209358198	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:209358198C>A	ENST00000272847.2	+	13	1680	c.1467C>A	c.(1465-1467)caC>caA	p.H489Q	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	489					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CTGACAGCCACATCACTTTAC	0.577																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1465-1467)caC>caA		parathyroid hormone 2 receptor							72.0	59.0	63.0					2																	209358198		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209358198C>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1467C>A	2.37:g.209358198C>A	ENSP00000272847:p.His489Gln					AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	p.H489Q	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	13	1680	+			489					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.1467C>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	C	9.598	1.127816	0.20959	.	.	ENSG00000144407	ENST00000272847	T	0.68479	-0.33	5.41	-1.07	0.09968	.	0.204185	0.23951	U	0.042959	T	0.60766	0.2294	M	0.78049	2.395	0.39464	D	0.967613	B;B	0.30455	0.28;0.28	B;B	0.29077	0.062;0.098	T	0.55023	-0.8205	9	.	.	.	.	9.504	0.39035	0.0:0.4532:0.0:0.5468	.	378;489	B4DFN8;P49190	.;PTH2R_HUMAN	Q	489	ENSP00000272847:H489Q	.	H	+	3	2	PTH2R	209066443	0.092000	0.21681	0.979000	0.43373	0.078000	0.17371	-0.884000	0.04166	-0.081000	0.12662	0.591000	0.81541	CAC		0.577	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		14	30	1	0	0.000151284	1	0.000166195	14	30				
AMPD1	270	broad.mit.edu	37	1	115222277	115222277	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:115222277G>A	ENST00000520113.2	-	7	934	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	AMPD1_ENST00000353928.6_Missense_Mutation_p.H274Y|AMPD1_ENST00000369538.3_Missense_Mutation_p.H303Y			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	307					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)	AGCATCTGATGGACCTGGAAC	0.428																																						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.(907-909)Cat>Tat		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						108.0	116.0	113.0					1																	115222277		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.chr1:115222277G>A	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.919C>T	1.37:g.115222277G>A	ENSP00000430075:p.His307Tyr					AMPD1_ENST00000353928.6_Missense_Mutation_p.H274Y|AMPD1_ENST00000520113.2_Missense_Mutation_p.H307Y	p.H303Y	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)	6	954	-	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)	274					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.907C>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582167	0.86748	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.91996	-2.95;-2.95;-2.95	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94089	0.8105	L	0.50847	1.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.91699	0.5372	10	0.32370	T	0.25	-24.5259	20.0572	0.97657	0.0:0.0:1.0:0.0	.	303;274	Q5TF02;P23109	.;AMPD1_HUMAN	Y	307;303;274	ENSP00000430075:H307Y;ENSP00000358551:H303Y;ENSP00000316520:H274Y	ENSP00000316520:H274Y	H	-	1	0	AMPD1	115023800	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.826000	0.97356	0.655000	0.94253	CAT		0.428	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			26	88	0	0	0	1	0	26	88				
ZNF800	168850	broad.mit.edu	37	7	127013508	127013508	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:127013508C>T	ENST00000393313.1	-	5	2473	c.1882G>A	c.(1882-1884)Gcc>Acc	p.A628T	ZNF800_ENST00000265827.3_Missense_Mutation_p.A628T|ZNF800_ENST00000393312.1_Missense_Mutation_p.A628T|ZNF800_ENST00000485577.1_5'UTR			Q2TB10	ZN800_HUMAN	zinc finger protein 800	628					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GTCTTTTTGGCAAATGCCTTT	0.363																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1882-1884)Gcc>Acc		zinc finger protein 800							139.0	134.0	136.0					7																	127013508		2203	4300	6503	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127013508C>T	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1882G>A	7.37:g.127013508C>T	ENSP00000376989:p.Ala628Thr					ZNF800_ENST00000393312.1_Missense_Mutation_p.A628T|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000265827.3_Missense_Mutation_p.A628T	p.A628T			Q2TB10	ZN800_HUMAN			5	2473	-			628					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1882G>A	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416646	0.62511	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.48201	0.82;0.82;0.82	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	N	0.13327	0.33	0.32848	D	0.506236	D;D	0.89917	0.997;1.0	D;D	0.87578	0.994;0.998	T	0.45323	-0.9269	9	0.17369	T	0.5	-1.0672	18.5255	0.90971	0.0:1.0:0.0:0.0	.	531;628	B7Z4V7;Q2TB10	.;ZN800_HUMAN	T	628	ENSP00000376989:A628T;ENSP00000265827:A628T;ENSP00000376988:A628T	ENSP00000265827:A628T	A	-	1	0	ZNF800	126800744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.235000	0.78143	2.692000	0.91855	0.655000	0.94253	GCC		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		5	32	0	0	0	1	0	5	32				
KALRN	8997	broad.mit.edu	37	3	124181457	124181457	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:124181457A>T	ENST00000240874.3	+	25	4159	c.4002A>T	c.(4000-4002)caA>caT	p.Q1334H	KALRN_ENST00000360013.3_Missense_Mutation_p.Q1334H|KALRN_ENST00000460856.1_Missense_Mutation_p.Q1325H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1334	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCAACATCCAAGAGATCTACG	0.473																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(4000-4002)caA>caT		kalirin, RhoGEF kinase							84.0	76.0	79.0					3																	124181457		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124181457A>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4002A>T	3.37:g.124181457A>T	ENSP00000240874:p.Gln1334His					KALRN_ENST00000460856.1_Missense_Mutation_p.Q1325H|KALRN_ENST00000240874.3_Missense_Mutation_p.Q1334H	p.Q1334H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			25	4129	+			1334			DH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4002A>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.192082|4.192082	0.78902|0.78902	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.63580	.|-0.05;-0.05;-0.05	5.41|5.41	3.62|3.62	0.41486|0.41486	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67636|0.67636	0.2914|0.2914	L|L	0.33339|0.33339	1.005|1.005	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.71674	.|0.998;0.982;0.936;0.998	.|D;P;P;D	.|0.91635	.|0.999;0.908;0.901;0.998	T|T	0.66858|0.66858	-0.5817|-0.5817	5|10	.|0.49607	.|T	.|0.09	.|.	11.2941|11.2941	0.49267|0.49267	0.1482:0.0:0.8518:0.0|0.1482:0.0:0.8518:0.0	.|.	.|1325;680;1334;1334	.|C9IZQ6;F2Z3Q6;O60229;O60229-2	.|.;.;KALRN_HUMAN;.	M|H	1303|1325;1334;1334	.|ENSP00000418611:Q1325H;ENSP00000240874:Q1334H;ENSP00000353109:Q1334H	.|ENSP00000240874:Q1334H	K|Q	+|+	2|3	0|2	KALRN|KALRN	125664147|125664147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.743000|4.743000	0.62110|0.62110	0.847000|0.847000	0.35167|0.35167	-0.242000|-0.242000	0.12053|0.12053	AAG|CAA		0.473	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		3	26	0	0	0	1	0	3	26				
FN1	2335	broad.mit.edu	37	2	216269248	216269248	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:216269248G>C	ENST00000359671.1	-	20	3382	c.3117C>G	c.(3115-3117)ccC>ccG	p.P1039P	FN1_ENST00000421182.1_Silent_p.P1039P|FN1_ENST00000345488.5_Silent_p.P1039P|FN1_ENST00000357867.4_Silent_p.P1039P|FN1_ENST00000446046.1_Silent_p.P1039P|FN1_ENST00000356005.4_Silent_p.P1039P|FN1_ENST00000336916.4_Silent_p.P1039P|FN1_ENST00000432072.2_Silent_p.P1039P|FN1_ENST00000346544.3_Silent_p.P1039P|FN1_ENST00000357009.2_Silent_p.P1039P|FN1_ENST00000323926.6_Silent_p.P1039P|FN1_ENST00000354785.4_Silent_p.P1039P|FN1_ENST00000443816.1_Silent_p.P1039P			P02751	FINC_HUMAN	fibronectin 1	1039	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGTACTGCCTGGGCTGTCCTC	0.552																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3115-3117)ccC>ccG		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						113.0	100.0	104.0					2																	216269248		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216269248G>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3117C>G	2.37:g.216269248G>C						FN1_ENST00000443816.1_Silent_p.P1039P|FN1_ENST00000421182.1_Silent_p.P1039P|FN1_ENST00000356005.4_Silent_p.P1039P|FN1_ENST00000345488.5_Silent_p.P1039P|FN1_ENST00000336916.4_Silent_p.P1039P|FN1_ENST00000346544.3_Silent_p.P1039P|FN1_ENST00000323926.6_Silent_p.P1039P|FN1_ENST00000357867.4_Silent_p.P1039P|FN1_ENST00000446046.1_Silent_p.P1039P|FN1_ENST00000432072.2_Silent_p.P1039P|FN1_ENST00000357009.2_Silent_p.P1039P|FN1_ENST00000359671.1_Silent_p.P1039P	p.P1039P			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	20	3486	-		Renal(323;0.127)	1039			Fibronectin type-III 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.3117C>G																																																																																					0.552	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		22	56	0	0	0	1	0	22	56				
RABGGTB	5876	broad.mit.edu	37	1	76253192	76253192	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:76253192A>G	ENST00000319942.3	+	2	85	c.14A>G	c.(13-15)cAg>cGg	p.Q5R	SNORD45C_ENST00000383893.1_RNA|SNORD45A_ENST00000384512.1_RNA|SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.Q5R|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	5					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GGCACTCCACAGAAGGATGTT	0.378																																						ENST00000319942.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						c.(13-15)cAg>cGg		Rab geranylgeranyltransferase, beta subunit							136.0	123.0	128.0					1																	76253192		2203	4300	6503	SO:0001583	missense	5876				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	g.chr1:76253192A>G	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.14A>G	1.37:g.76253192A>G	ENSP00000317473:p.Gln5Arg					RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.Q5R	p.Q5R	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN			2	85	+			5					Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	c.14A>G	CCDS669.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.731381	0.30684	.	.	ENSG00000137955	ENST00000319942;ENST00000370824;ENST00000370826	.	.	.	5.35	5.35	0.76521	.	0.250617	0.41097	D	0.000942	T	0.18593	0.0446	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13575	-1.0504	9	0.12103	T	0.63	-9.2926	15.3319	0.74219	1.0:0.0:0.0:0.0	.	5	P53611	PGTB2_HUMAN	R	5	.	ENSP00000317473:Q5R	Q	+	2	0	RABGGTB	76025780	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	6.332000	0.72934	2.030000	0.59900	0.533000	0.62120	CAG		0.378	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		18	49	0	0	0	1	0	18	49				
TOX2	84969	broad.mit.edu	37	20	42635323	42635323	+	Missense_Mutation	SNP	C	C	T	rs372508386		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:42635323C>T	ENST00000358131.5	+	3	537	c.329C>T	c.(328-330)cCc>cTc	p.P110L	RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000341197.4_Missense_Mutation_p.P101L|TOX2_ENST00000372999.1_Missense_Mutation_p.P59L|TOX2_ENST00000423191.2_Missense_Mutation_p.P59L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	110	Required for transcriptional activation. {ECO:0000250}.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCTCACCCCCAACGGTCTG	0.642																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(328-330)cCc>cTc		TOX high mobility group box family member 2							131.0	98.0	109.0					20																	42635323		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42635323C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.329C>T	20.37:g.42635323C>T	ENSP00000350849:p.Pro110Leu					TOX2_ENST00000341197.3_Missense_Mutation_p.P101L|TOX2_ENST00000423191.1_Missense_Mutation_p.P59L|TOX2_ENST00000372999.1_Missense_Mutation_p.P59L	p.P110L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	537	+		Myeloproliferative disorder(115;0.00452)	110			Required for transcriptional activation (By similarity).		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.329C>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195665	0.78902	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.24	5.24	0.73138	.	0.076951	0.53938	D	0.000060	T	0.56891	0.2016	L	0.42245	1.32	0.80722	D	1	D;P;D;D	0.89917	1.0;0.895;0.999;1.0	D;B;D;D	0.91635	0.999;0.351;0.941;0.997	T	0.50566	-0.8813	10	0.30078	T	0.28	.	17.3939	0.87439	0.0:1.0:0.0:0.0	.	101;59;110;59	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	L	101;59;59;59;110	ENSP00000344724:P101L;ENSP00000396584:P59L;ENSP00000390278:P59L;ENSP00000362090:P59L;ENSP00000350849:P110L	ENSP00000344724:P101L	P	+	2	0	TOX2	42068737	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	4.634000	0.61325	2.444000	0.82710	0.655000	0.94253	CCC		0.642	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			22	48	0	0	0	1	0	22	48				
SYNE1	23345	broad.mit.edu	37	6	152768656	152768656	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:152768656C>A	ENST00000367255.5	-	29	4207	c.3606G>T	c.(3604-3606)aaG>aaT	p.K1202N	SYNE1_ENST00000423061.1_Missense_Mutation_p.K1209N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1202N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1209N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1202N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1268N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1192N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1202N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1202					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCTCCCTGCTTTTGGGCTT	0.458										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3604-3606)aaG>aaT		spectrin repeat containing, nuclear envelope 1							82.0	80.0	81.0					6																	152768656		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152768656C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3606G>T	6.37:g.152768656C>A	ENSP00000356224:p.Lys1202Asn	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.K1268N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1209N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1202N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1209N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1202N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1192N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1202N	p.K1202N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	29	4207	-		Ovarian(120;0.0955)	1202					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3606G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.53	1.664805	0.29604	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.9	3.11	0.35812	.	0.179793	0.38897	N	0.001525	T	0.20129	0.0484	M	0.62723	1.935	0.80722	D	1	B;P;B;P;P;P	0.39862	0.434;0.565;0.433;0.575;0.565;0.692	B;B;B;B;B;B	0.42653	0.144;0.164;0.206;0.394;0.164;0.311	T	0.03017	-1.1082	10	0.25751	T	0.34	.	7.4904	0.27458	0.0:0.6832:0.1191:0.1977	.	1185;1202;1192;1202;1202;1209	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	N	1202;1209;1202;1209;1268;1202;1192;1202	ENSP00000356224:K1202N;ENSP00000396024:K1209N;ENSP00000265368:K1202N;ENSP00000390975:K1209N;ENSP00000341887:K1268N;ENSP00000356222:K1202N;ENSP00000356217:K1192N;ENSP00000414510:K1202N	ENSP00000265368:K1202N	K	-	3	2	SYNE1	152810349	0.994000	0.37717	0.950000	0.38849	0.112000	0.19704	0.376000	0.20535	0.814000	0.34374	0.650000	0.86243	AAG		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	42	1	0	0.000422831	1	0.000459534	17	42				
SLC4A9	83697	broad.mit.edu	37	5	139741732	139741732	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:139741732C>G	ENST00000230993.6	+	5	799	c.764C>G	c.(763-765)tCc>tGc	p.S255C	SLC4A9_ENST00000507527.1_Missense_Mutation_p.S255C|SLC4A9_ENST00000506545.1_Missense_Mutation_p.S231C|SLC4A9_ENST00000432095.2_Missense_Mutation_p.S231C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.S231C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	255					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTGGGGTCCCTTACTGAG	0.612																																						ENST00000230993.6																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.(763-765)tCc>tGc		solute carrier family 4, sodium bicarbonate cotransporter, member 9							25.0	27.0	26.0					5																	139741732		1926	4139	6065	SO:0001583	missense	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139741732C>G	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.764C>G	5.37:g.139741732C>G	ENSP00000230993:p.Ser255Cys					SLC4A9_ENST00000507527.1_Missense_Mutation_p.S255C|SLC4A9_ENST00000432095.2_Missense_Mutation_p.S231C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.S231C|SLC4A9_ENST00000506545.1_Missense_Mutation_p.S231C	p.S255C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	799	+			255					B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	c.764C>G	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777229	0.70107	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	4.9	4.9	0.64082	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.694589	0.13952	N	0.351420	T	0.73297	0.3569	L	0.52126	1.63	0.09310	N	1	D;D;D;D	0.63046	0.978;0.992;0.969;0.969	P;P;P;P	0.56127	0.552;0.792;0.518;0.518	T	0.65994	-0.6033	10	0.87932	D	0	.	14.0456	0.64704	0.1513:0.8487:0.0:0.0	.	231;255;231;231	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	C	255;231;231;231;255	ENSP00000230993:S255C;ENSP00000424424:S231C;ENSP00000410056:S231C;ENSP00000422855:S231C;ENSP00000427661:S255C	ENSP00000230993:S255C	S	+	2	0	SLC4A9	139721916	0.004000	0.15560	0.125000	0.21846	0.959000	0.62525	1.737000	0.38197	2.551000	0.86045	0.655000	0.94253	TCC		0.612	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		5	17	0	0	0	1	0	5	17				
CYLC1	1538	broad.mit.edu	37	X	83128482	83128482	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:83128482G>T	ENST00000329312.4	+	4	803	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	256					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACAGTCTGATGATGAATCCAT	0.313																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(766-768)Gat>Tat		cylicin, basic protein of sperm head cytoskeleton 1							41.0	38.0	39.0					X																	83128482		2196	4294	6490	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128482G>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.766G>T	X.37:g.83128482G>T	ENSP00000331556:p.Asp256Tyr						p.D256Y	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	803	+			256					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.766G>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	8.993	0.978231	0.18812	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.45668	0.89	4.92	-1.94	0.07571	.	.	.	.	.	T	0.28333	0.0700	L	0.36672	1.1	0.09310	N	1	P;P	0.46327	0.876;0.876	B;B	0.41036	0.346;0.346	T	0.16217	-1.0410	9	0.54805	T	0.06	0.0601	4.9995	0.14257	0.5858:0.0:0.2528:0.1614	.	256;256	P35663;F5H4V5	CYLC1_HUMAN;.	Y	256	ENSP00000331556:D256Y	ENSP00000331556:D256Y	D	+	1	0	CYLC1	83015138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.771000	0.04699	-0.411000	0.07530	-0.380000	0.06706	GAT		0.313	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		8	17	1	0	0.000157383	1	0.000171862	8	17				
RPS6KL1	83694	broad.mit.edu	37	14	75375585	75375585	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:75375585C>A	ENST00000555647.1	-	10	1698	c.1411G>T	c.(1411-1413)Ggg>Tgg	p.G471W	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G471W|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G440W|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G471W|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	471	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		AGTAGAGACCCAAAGCTCCAC	0.587																																						ENST00000555647.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1411-1413)Ggg>Tgg		ribosomal protein S6 kinase-like 1							182.0	131.0	148.0					14																	75375585		2203	4300	6503	SO:0001583	missense	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75375585C>A	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1411G>T	14.37:g.75375585C>A	ENSP00000452027:p.Gly471Trp					RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G471W|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G471W|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G440W	p.G471W			Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	10	1698	-			471			Protein kinase.		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	c.1411G>T	CCDS9834.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.158852|4.158852	0.78226|0.78226	.|.	.|.	ENSG00000198208|ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000553789;ENST00000557413;ENST00000358328|ENST00000553971	T;T;T;T;T|.	0.57107|.	0.42;0.42;0.42;0.42;0.42|.	4.91|4.91	4.91|4.91	0.64330|0.64330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.055131|.	0.64402|.	D|.	0.000001|.	D|D	0.91064|0.91064	0.7188|0.7188	H|H	0.99026|0.99026	4.405|4.405	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94852|0.94852	0.8014|0.8014	10|5	0.87932|.	D|.	0|.	-23.9862|-23.9862	18.4907|18.4907	0.90846|0.90846	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	471;440|.	Q9Y6S9;Q9Y6S9-2|.	RPKL1_HUMAN;.|.	W|L	471;440;79;471;471|57	ENSP00000452027:G471W;ENSP00000346644:G440W;ENSP00000450846:G79W;ENSP00000450567:G471W;ENSP00000351086:G471W|.	ENSP00000346644:G440W|.	G|W	-|-	1|2	0|0	RPS6KL1|RPS6KL1	74445338|74445338	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.511000|0.511000	0.34104|0.34104	7.426000|7.426000	0.80270|0.80270	2.426000|2.426000	0.82243|0.82243	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.587	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			24	51	1	0	1.77063e-15	1	2.6487e-15	24	51				
SCTR	6344	broad.mit.edu	37	2	120204416	120204416	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:120204416G>T	ENST00000019103.5	-	11	1326	c.1059C>A	c.(1057-1059)atC>atA	p.I353I		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	353					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CGATGTAGTGGATGCCAAAGA	0.577																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.(1057-1059)atC>atA		secretin receptor	Secretin(DB00021)						96.0	95.0	95.0					2																	120204416		2203	4300	6503	SO:0001819	synonymous_variant	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120204416G>T		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.1059C>A	2.37:g.120204416G>T							p.I353I	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			11	1326	-			353					Q12961|Q13213|Q53T00	Silent	SNP	ENST00000019103.5	37	c.1059C>A	CCDS2127.1																																																																																				0.577	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			21	106	1	0	2.89027e-11	1	3.90207e-11	21	106				
IGHV1-2	28474	broad.mit.edu	37	14	106453073	106453073	+	RNA	SNP	C	C	A	rs541603173		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:106453073C>A	ENST00000390594.2	-	0	97									immunoglobulin heavy variable 1-2																		GTGGCTGCTGCCACCAAGAAG	0.547																																						ENST00000390594.2																			0																				54.0	55.0	55.0					14																	106453073		1883	4106	5989			28474							g.chr14:106453073C>A	X07448		14q32.33	2012-02-08			ENSG00000211934	ENSG00000211934		"""Immunoglobulins / IGH locus"""	5550	other	immunoglobulin gene							Standard	NG_001019		Approved	V35			OTTHUMG00000152320		14.37:g.106453073C>A														0	97	-									RNA	SNP	ENST00000390594.2	37																																																																																						0.547	IGHV1-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325882.1	NG_001019		33	48	1	0	4.74835e-14	1	6.9329e-14	33	48				
N4BP1	9683	broad.mit.edu	37	16	48595715	48595715	+	Missense_Mutation	SNP	C	C	G	rs201620094		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:48595715C>G	ENST00000262384.3	-	2	1075	c.839G>C	c.(838-840)aGa>aCa	p.R280T	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	280					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTGACAAATTCTCTCATTGGA	0.398																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(838-840)aGa>aCa		NEDD4 binding protein 1							71.0	67.0	68.0					16																	48595715		1844	4087	5931	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48595715C>G	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.839G>C	16.37:g.48595715C>G	ENSP00000262384:p.Arg280Thr					RP11-44I10.3_ENST00000563994.1_RNA	p.R280T	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			2	1075	-		all_cancers(37;0.179)|all_lung(18;0.11)	280					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.839G>C	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840084	0.32513	.	.	ENSG00000102921	ENST00000262384	T	0.55588	0.51	5.75	4.79	0.61399	.	0.326962	0.34200	N	0.004172	T	0.59101	0.2169	L	0.34521	1.04	0.39453	D	0.96744	D	0.76494	0.999	D	0.64144	0.922	T	0.62647	-0.6810	10	0.66056	D	0.02	-21.6031	13.5034	0.61471	0.0:0.9266:0.0:0.0734	.	280	O75113	N4BP1_HUMAN	T	280	ENSP00000262384:R280T	ENSP00000262384:R280T	R	-	2	0	N4BP1	47153216	0.971000	0.33674	0.634000	0.29324	0.010000	0.07245	2.282000	0.43461	2.719000	0.93026	0.655000	0.94253	AGA		0.398	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		14	60	0	0	0	1	0	14	60				
NALCN	259232	broad.mit.edu	37	13	102029073	102029073	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:102029073C>G	ENST00000251127.6	-	6	703	c.622G>C	c.(622-624)Gtt>Ctt	p.V208L	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.V208L|NALCN_ENST00000376200.5_Missense_Mutation_p.V208L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	208					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCATTTACAACACAGTGATAA	0.303																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(622-624)Gtt>Ctt		sodium leak channel, non-selective							103.0	115.0	111.0					13																	102029073		2203	4298	6501	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029073C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.622G>C	13.37:g.102029073C>G	ENSP00000251127:p.Val208Leu					NALCN_ENST00000376200.5_Missense_Mutation_p.V208L|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.V208L	p.V208L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			6	703	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		208					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.622G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320452	0.81469	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98493	-4.96;-4.96;-4.96	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98811	0.9599	M	0.78285	2.405	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	D	0.99863	1.1085	10	0.72032	D	0.01	.	17.7592	0.88460	0.0:1.0:0.0:0.0	.	208;208	F2Z323;Q8IZF0	.;NALCN_HUMAN	L	208	ENSP00000251127:V208L;ENSP00000365367:V208L;ENSP00000365373:V208L	ENSP00000251127:V208L	V	-	1	0	NALCN	100827074	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.441000	0.80485	2.283000	0.76528	0.650000	0.86243	GTT		0.303	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		34	73	0	0	0	1	0	34	73				
IGHV4-31	28396	broad.mit.edu	37	14	106805385	106805385	+	RNA	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:106805385G>T	ENST00000438142.2	-	0	249									immunoglobulin heavy variable 4-31																		CCTGGGTGCTGGCGGATCCAG	0.562																																						ENST00000438142.2																			0																				102.0	155.0	139.0					14																	106805385		1876	4111	5987			28396							g.chr14:106805385G>T	L10098		14q32.33	2012-02-08			ENSG00000231475	ENSG00000231475		"""Immunoglobulins / IGH locus"""	5649	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152097		14.37:g.106805385G>T														0	249	-									RNA	SNP	ENST00000438142.2	37																																																																																						0.562	IGHV4-31-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325194.1	NG_001019		29	113	1	0	2.4375e-19	1	3.89488e-19	29	113				
VN1R4	317703	broad.mit.edu	37	19	53770743	53770743	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:53770743C>A	ENST00000311170.4	-	1	229	c.176G>T	c.(175-177)tGt>tTt	p.C59F	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	59					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GACTCCTTTACAGCGGAGAGC	0.458										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(175-177)tGt>tTt		vomeronasal 1 receptor 4							37.0	38.0	37.0					19																	53770743		2203	4298	6501	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770743C>A	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.176G>T	19.37:g.53770743C>A	ENSP00000310856:p.Cys59Phe	HNSCC(26;0.072)					p.C59F	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	229	-			59					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.176G>T	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	C	3.905	-0.021310	0.07634	.	.	ENSG00000228567	ENST00000311170	T	0.35421	1.31	2.27	-4.54	0.03452	GPCR, rhodopsin-like superfamily (1);	1.693510	0.04068	U	0.307481	T	0.30008	0.0751	N	0.21583	0.68	0.09310	N	1	B	0.16396	0.017	B	0.22880	0.042	T	0.36792	-0.9733	10	0.62326	D	0.03	.	16.3344	0.83052	0.0:0.7495:0.2505:0.0	.	59	Q7Z5H5	VN1R4_HUMAN	F	59	ENSP00000310856:C59F	ENSP00000310856:C59F	C	-	2	0	VN1R4	58462555	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.697000	0.05098	-1.701000	0.01413	-0.407000	0.06327	TGT		0.458	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		13	34	1	0	0.0242445	1	0.0247316	13	34				
CGA	1081	broad.mit.edu	37	6	87797907	87797907	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:87797907G>A	ENST00000369582.2	-	2	112	c.12C>T	c.(10-12)taC>taT	p.Y4Y		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	4					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|developmental growth (GO:0048589)|follicle-stimulating hormone secretion (GO:0046884)|gonad development (GO:0008406)|luteinizing hormone secretion (GO:0032275)|negative regulation of organ growth (GO:0046621)|peptide hormone processing (GO:0016486)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		CATATTTTCTGTAGTAATCCA	0.413																																						ENST00000369582.2																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15						c.(10-12)taC>taT		glycoprotein hormones, alpha polypeptide							117.0	95.0	102.0					6																	87797907		2203	4300	6503	SO:0001819	synonymous_variant	1081				hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr6:87797907G>A	V00518	CCDS5007.1, CCDS75492.1	6q14-q21	2013-02-26			ENSG00000135346	ENSG00000135346		"""Endogenous ligands"""	1885	protein-coding gene	gene with protein product	"""follicle-stimulating hormone alpha subunit"", ""chorionic gonadotropin, alpha polypeptide"", ""luteinizing hormone alpha chain"", ""lutropin alpha chain"", ""thyroid-stimulating hormone alpha chain"", ""glycoprotein hormones alpha chain"""	118850				6286817	Standard	NM_000735		Approved	HCG, GPHa, GPHA1, FSHA, LHA, TSHA	uc021zci.1	P01215	OTTHUMG00000015161	ENST00000369582.2:c.12C>T	6.37:g.87797907G>A							p.Y4Y	NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0484)	2	112	-		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)	4						Silent	SNP	ENST00000369582.2	37	c.12C>T	CCDS5007.1																																																																																				0.413	CGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041425.1	NM_000735		4	16	0	0	0	1	0	4	16				
RFWD3	55159	broad.mit.edu	37	16	74678452	74678452	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:74678452C>A	ENST00000361070.4	-	5	1071	c.974G>T	c.(973-975)cGa>cTa	p.R325L	RFWD3_ENST00000571750.1_Missense_Mutation_p.R325L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	325					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GGGACATTTTCGTACTTGTCC	0.468																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(973-975)cGa>cTa		ring finger and WD repeat domain 3							128.0	116.0	120.0					16																	74678452		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74678452C>A	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.974G>T	16.37:g.74678452C>A	ENSP00000354361:p.Arg325Leu					RFWD3_ENST00000571750.1_Missense_Mutation_p.R325L	p.R325L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			5	1071	-			325					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.974G>T	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404313	0.62288	.	.	ENSG00000168411	ENST00000361070	T	0.43688	0.94	5.93	5.93	0.95920	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.214824	0.36893	N	0.002345	T	0.36082	0.0954	L	0.31207	0.915	0.35361	D	0.788223	P	0.46395	0.877	B	0.43754	0.43	T	0.37641	-0.9697	10	0.27785	T	0.31	-6.9564	15.7699	0.78162	0.0:0.8645:0.1355:0.0	.	325	Q6PCD5	RFWD3_HUMAN	L	325	ENSP00000354361:R325L	ENSP00000354361:R325L	R	-	2	0	RFWD3	73235953	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.590000	0.46154	2.802000	0.96397	0.561000	0.74099	CGA		0.468	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		17	66	1	0	1.02788e-11	1	1.40431e-11	17	66				
ZNF71	58491	broad.mit.edu	37	19	57132710	57132710	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:57132710G>T	ENST00000328070.6	+	3	289	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	19					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)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCCGTTGTTGGGGAGGCCAC	0.552																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(55-57)Ggg>Tgg		zinc finger protein 71							40.0	42.0	42.0					19																	57132710		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132710G>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.55G>T	19.37:g.57132710G>T	ENSP00000328245:p.Gly19Trp						p.G19W	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	289	+			19					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.55G>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	9.129	1.010986	0.19277	.	.	ENSG00000197951	ENST00000328070	T	0.07908	3.15	2.75	-3.23	0.05109	.	.	.	.	.	T	0.04318	0.0119	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42413	-0.9453	9	0.56958	D	0.05	.	0.4587	0.00513	0.2712:0.2192:0.3235:0.1862	.	19	Q9NQZ8	ZNF71_HUMAN	W	19	ENSP00000328245:G19W	ENSP00000328245:G19W	G	+	1	0	ZNF71	61824522	0.011000	0.17503	0.000000	0.03702	0.000000	0.00434	-0.032000	0.12266	-0.684000	0.05183	-1.130000	0.01982	GGG		0.552	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		16	37	1	0	4.7546e-09	1	6.06096e-09	16	37				
TEX37	200523	broad.mit.edu	37	2	88828736	88828736	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:88828736G>T	ENST00000303254.3	+	4	429	c.287G>T	c.(286-288)aGg>aTg	p.R96M		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	96						nucleus (GO:0005634)											GAGGCCACGAGGGAGGACGAG	0.572																																						ENST00000303254.3																			0											c.(286-288)aGg>aTg		testis expressed 37							140.0	128.0	132.0					2																	88828736		2203	4300	6503	SO:0001583	missense	200523							g.chr2:88828736G>T	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.287G>T	2.37:g.88828736G>T	ENSP00000307142:p.Arg96Met						p.R96M	NM_152670.2	NP_689883.1					4	429	+									Missense_Mutation	SNP	ENST00000303254.3	37	c.287G>T	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	G	3.570	-0.087875	0.07097	.	.	ENSG00000172073	ENST00000303254	T	0.46451	0.87	4.08	-8.15	0.01065	.	2.302480	0.01575	N	0.020745	T	0.22666	0.0547	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.19391	0.025	T	0.20538	-1.0272	10	0.51188	T	0.08	3.8479	2.8909	0.05676	0.2727:0.0915:0.4472:0.1886	.	96	Q96LM6	TSC21_HUMAN	M	96	ENSP00000307142:R96M	ENSP00000307142:R96M	R	+	2	0	C2orf51	88609851	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.793000	0.00053	-4.448000	0.00048	-0.448000	0.05591	AGG		0.572	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		20	111	1	0	2.37509e-13	1	3.40256e-13	20	111				
DLGAP3	58512	broad.mit.edu	37	1	35334214	35334214	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:35334214G>T	ENST00000373347.1	-	9	2745	c.2477C>A	c.(2476-2478)cCc>cAc	p.P826H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.P826H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	826					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ACTCTCCTCGGGTAGCTCATA	0.632																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(2476-2478)cCc>cAc		discs, large (Drosophila) homolog-associated protein 3							57.0	58.0	58.0					1																	35334214		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35334214G>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2477C>A	1.37:g.35334214G>T	ENSP00000362444:p.Pro826His					DLGAP3_ENST00000235180.4_Missense_Mutation_p.P826H	p.P826H			O95886	DLGP3_HUMAN			9	2745	-		Myeloproliferative disorder(586;0.0393)	826					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.2477C>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529564	0.85706	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.20738	2.05;2.05	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.78285	2.405	0.80722	D	1	D	0.56521	0.976	P	0.58577	0.841	T	0.50955	-0.8766	10	0.87932	D	0	-15.1172	18.1072	0.89524	0.0:0.0:1.0:0.0	.	826	O95886	DLGP3_HUMAN	H	826;826;164	ENSP00000362444:P826H;ENSP00000235180:P826H	ENSP00000235180:P826H	P	-	2	0	DLGAP3	35106801	1.000000	0.71417	0.953000	0.39169	0.970000	0.65996	9.657000	0.98554	2.492000	0.84095	0.655000	0.94253	CCC		0.632	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		8	46	1	0	5.4927e-09	1	6.9921e-09	8	46				
C3orf30	152405	broad.mit.edu	37	3	118865682	118865682	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:118865682A>T	ENST00000295622.1	+	1	686	c.646A>T	c.(646-648)Aaa>Taa	p.K216*	IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	216										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGATTATCCAAACTATCTGA	0.512																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(646-648)Aaa>Taa		chromosome 3 open reading frame 30							104.0	108.0	106.0					3																	118865682		2203	4300	6503	SO:0001587	stop_gained	152405							g.chr3:118865682A>T	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.646A>T	3.37:g.118865682A>T	ENSP00000295622:p.Lys216*						p.K216*	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	686	+			216					A1L4B7	Nonsense_Mutation	SNP	ENST00000295622.1	37	c.646A>T	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.40|18.40	3.615498|3.615498	0.66672|0.66672	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150;ENST00000473121	.|.	.|.	.|.	3.37|3.37	-5.8|-5.8	0.02347|0.02347	.|.	2.930220|.	0.01162|.	N|.	0.006671|.	.|T	.|0.18467	.|0.0443	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26744	.|-1.0094	.|3	0.06757|.	T|.	0.87|.	.|.	3.7648|3.7648	0.08619|0.08619	0.2207:0.1467:0.4886:0.144|0.2207:0.1467:0.4886:0.144	.|.	.|.	.|.	.|.	X|L	216|179;8	.|.	ENSP00000295622:K216X|.	K|Q	+|+	1|2	0|0	C3orf30|C3orf30	120348372|120348372	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.553000|-1.553000	0.02174|0.02174	-1.285000|-1.285000	0.02387|0.02387	0.338000|0.338000	0.21704|0.21704	AAA|CAA		0.512	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		27	87	0	0	0	1	0	27	87				
MYH2	4620	broad.mit.edu	37	17	10424617	10424617	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:10424617T>C	ENST00000245503.5	-	40	6190	c.5806A>G	c.(5806-5808)Aaa>Gaa	p.K1936E	MYH1_ENST00000226207.5_5'Flank|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1936E|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.K703E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1936					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTATGACTTTTGTGTGAACC	0.502																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5806-5808)Aaa>Gaa		myosin, heavy chain 2, skeletal muscle, adult							200.0	190.0	193.0					17																	10424617		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10424617T>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5806A>G	17.37:g.10424617T>C	ENSP00000245503:p.Lys1936Glu					MYH2_ENST00000532183.1_Missense_Mutation_p.K703E|MYH2_ENST00000397183.2_Missense_Mutation_p.K1936E|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.K1936E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			40	6190	-			1936					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5806A>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587937	0.66105	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.73897	2.6;-0.79;-0.79	5.55	5.55	0.83447	.	0.000000	0.41294	U	0.000910	D	0.87565	0.6209	M	0.90198	3.095	0.46078	D	0.998851	P;B	0.52842	0.956;0.032	P;B	0.62184	0.899;0.044	D	0.89374	0.3677	10	0.54805	T	0.06	.	15.8689	0.79091	0.0:0.0:0.0:1.0	.	703;1936	Q567P6;Q9UKX2	.;MYH2_HUMAN	E	703;1936;1936	ENSP00000433944:K703E;ENSP00000245503:K1936E;ENSP00000380367:K1936E	ENSP00000245503:K1936E	K	-	1	0	MYH2	10365342	1.000000	0.71417	0.452000	0.26994	0.989000	0.77384	6.506000	0.73712	2.333000	0.79357	0.482000	0.46254	AAA		0.502	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		39	107	0	0	0	1	0	39	107				
GP2	2813	broad.mit.edu	37	16	20331707	20331707	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:20331707C>T	ENST00000381362.4	-	6	820	c.744G>A	c.(742-744)ttG>ttA	p.L248L	GP2_ENST00000381360.5_Silent_p.L101L|GP2_ENST00000341642.5_Silent_p.L98L|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000302555.5_Silent_p.L245L	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	248	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.			L -> F (in Ref. 5; BAA07400). {ECO:0000305}.	antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCTCCTCCCCCAAACCCAGGC	0.567																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(733-735)ttG>ttA		glycoprotein 2 (zymogen granule membrane)							100.0	84.0	90.0					16																	20331707		2203	4300	6503	SO:0001819	synonymous_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331707C>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.744G>A	16.37:g.20331707C>T						GP2_ENST00000341642.5_Silent_p.L98L|GP2_ENST00000381362.4_Silent_p.L248L|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Silent_p.L101L	p.L245L			P55259	GP2_HUMAN			5	884	-			248			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.735G>A	CCDS42128.1																																																																																				0.567	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		29	52	0	0	0	1	0	29	52				
ANKRD11	29123	broad.mit.edu	37	16	89347570	89347570	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:89347570C>A	ENST00000301030.4	-	9	5840	c.5380G>T	c.(5380-5382)Gac>Tac	p.D1794Y	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1794Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1794					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCCTAATGTCGACAGAGACC	0.587																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5380-5382)Gac>Tac		ankyrin repeat domain 11							42.0	45.0	44.0					16																	89347570		2194	4295	6489	SO:0001583	missense	29123					nucleus		g.chr16:89347570C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5380G>T	16.37:g.89347570C>A	ENSP00000301030:p.Asp1794Tyr					ANKRD11_ENST00000378330.2_Missense_Mutation_p.D1794Y	p.D1794Y	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5840	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1794					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.5380G>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	c	14.73	2.622118	0.46840	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.54479	0.57;0.57	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.63780	0.2540	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68096	-0.5499	10	0.87932	D	0	.	16.8476	0.85985	0.0:1.0:0.0:0.0	.	1794	Q6UB99	ANR11_HUMAN	Y	1794	ENSP00000301030:D1794Y;ENSP00000367581:D1794Y	ENSP00000301030:D1794Y	D	-	1	0	ANKRD11	87875071	1.000000	0.71417	0.952000	0.39060	0.019000	0.09904	5.335000	0.65929	2.266000	0.75297	0.457000	0.33378	GAC		0.587	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		21	63	1	0	5.35356e-11	1	7.1642e-11	21	63				
OR14C36	127066	broad.mit.edu	37	1	248512317	248512317	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:248512317G>T	ENST00000317861.1	+	1	241	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	81						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)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TACCTCATGTGTCAATTCCCT	0.473																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(241-243)Gtc>Ttc		olfactory receptor, family 14, subfamily C, member 36							162.0	138.0	146.0					1																	248512317		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512317G>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.241G>T	1.37:g.248512317G>T	ENSP00000324534:p.Val81Phe						p.V81F	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	241	+			81					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.241G>T	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	G	6.883	0.532415	0.13127	.	.	ENSG00000177174	ENST00000317861	T	0.01240	5.12	4.05	-3.65	0.04502	GPCR, rhodopsin-like superfamily (1);	1.097780	0.07161	N	0.850777	T	0.01320	0.0043	L	0.41492	1.28	0.09310	N	1	B	0.17268	0.021	B	0.20384	0.029	T	0.49184	-0.8966	10	0.12430	T	0.62	.	6.447	0.21882	0.5565:0.0:0.3185:0.125	.	81	Q8NHC7	O14CZ_HUMAN	F	81	ENSP00000324534:V81F	ENSP00000324534:V81F	V	+	1	0	OR14C36	246578940	0.000000	0.05858	0.000000	0.03702	0.341000	0.28922	-0.390000	0.07332	-0.665000	0.05317	-0.531000	0.04308	GTC		0.473	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		18	64	1	0	5.03518e-11	1	6.76788e-11	18	64				
HTN3	3347	broad.mit.edu	37	4	70898910	70898910	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:70898910T>C	ENST00000530128.1	+	5	204	c.129T>C	c.(127-129)taT>taC	p.Y43Y	HTN3_ENST00000526767.1_Silent_p.Y43Y|HTN3_ENST00000381057.3_Silent_p.Y33Y			P15516	HIS3_HUMAN	histatin 3	43		Not sulfated.			biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						ATCGAGGCTATAGATCAAATT	0.363																																						ENST00000530128.1																			0				breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						c.(127-129)taT>taC		histatin 3							138.0	124.0	128.0					4																	70898910		2203	4300	6503	SO:0001819	synonymous_variant	3347				biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	metal ion binding|protein binding	g.chr4:70898910T>C		CCDS33999.1	4q13	2008-08-29							5284	protein-coding gene	gene with protein product		142702					Standard	NM_000200		Approved	HIS2	uc003hew.2	P15516		ENST00000530128.1:c.129T>C	4.37:g.70898910T>C						HTN3_ENST00000526767.1_Silent_p.Y43Y|HTN3_ENST00000381057.3_Silent_p.Y33Y	p.Y43Y			P15516	HIS3_HUMAN			5	204	+			43				Not sulfated.	Q16243|Q502Z1	Silent	SNP	ENST00000530128.1	37	c.129T>C	CCDS33999.1																																																																																				0.363	HTN3-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387375.1	NM_000200		17	35	0	0	0	1	0	17	35				
CEP83	51134	broad.mit.edu	37	12	94761893	94761893	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:94761893C>G	ENST00000397809.5	-	10	1682	c.1133G>C	c.(1132-1134)cGt>cCt	p.R378P	CCDC41_ENST00000397807.2_Missense_Mutation_p.R345P|CCDC41_ENST00000339839.5_Missense_Mutation_p.R378P|CCDC41_ENST00000549352.1_5'Flank	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		370					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTGTACTTTACGTATTAATTC	0.333																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1132-1134)cGt>cCt		coiled-coil domain containing 41							115.0	102.0	106.0					12																	94761893		1844	4088	5932	SO:0001583	missense	51134							g.chr12:94761893C>G																												ENST00000397809.5:c.1133G>C	12.37:g.94761893C>G	ENSP00000380911:p.Arg378Pro					CCDC41_ENST00000339839.5_Missense_Mutation_p.R378P|CCDC41_ENST00000397807.2_Missense_Mutation_p.R345P	p.R378P	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			10	1682	-			370					A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1133G>C	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559122	0.86335	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807	T;T;T	0.55052	0.61;0.61;0.54	6.07	6.07	0.98685	.	.	.	.	.	T	0.71879	0.3392	L	0.59436	1.845	0.53005	D	0.99996	D;D	0.89917	0.997;1.0	D;D	0.91635	0.935;0.999	T	0.69844	-0.5035	9	0.56958	D	0.05	-7.1547	20.6593	0.99626	0.0:1.0:0.0:0.0	.	345;370	Q9Y592-2;Q9Y592	.;CCD41_HUMAN	P	378;378;345	ENSP00000344655:R378P;ENSP00000380911:R378P;ENSP00000380909:R345P	ENSP00000344655:R378P	R	-	2	0	CCDC41	93286024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.793000	0.62474	2.885000	0.99019	0.655000	0.94253	CGT		0.333	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			7	21	0	0	0	1	0	7	21				
ITSN2	50618	broad.mit.edu	37	2	24484450	24484450	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:24484450A>T	ENST00000355123.4	-	21	2960	c.2517T>A	c.(2515-2517)tcT>tcA	p.S839S	ITSN2_ENST00000361999.3_Silent_p.S812S|ITSN2_ENST00000406921.3_Silent_p.S839S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	839					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGGTAGCAGATAAAGAAA	0.348																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(2515-2517)tcT>tcA		intersectin 2							118.0	123.0	121.0					2																	24484450		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24484450A>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2517T>A	2.37:g.24484450A>T						ITSN2_ENST00000361999.3_Silent_p.S812S|ITSN2_ENST00000406921.3_Silent_p.S839S	p.S839S	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			21	2960	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		839					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.2517T>A	CCDS1710.2																																																																																				0.348	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		18	70	0	0	0	1	0	18	70				
CCDC80	151887	broad.mit.edu	37	3	112357536	112357536	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:112357536C>A	ENST00000206423.3	-	2	2170	c.1217G>T	c.(1216-1218)aGg>aTg	p.R406M	CCDC80_ENST00000439685.2_Missense_Mutation_p.R406M|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	406					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TGAGGGTCTCCTGGCAGTGAT	0.607																																						ENST00000206423.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						c.(1216-1218)aGg>aTg		coiled-coil domain containing 80							64.0	62.0	63.0					3																	112357536		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112357536C>A	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1217G>T	3.37:g.112357536C>A	ENSP00000206423:p.Arg406Met					CCDC80_ENST00000439685.2_Missense_Mutation_p.R406M	p.R406M	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			2	2170	-			406					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1217G>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276285	0.40294	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.47528	0.84;0.84	4.88	4.01	0.46588	.	0.282203	0.34906	N	0.003588	T	0.41442	0.1159	L	0.27053	0.805	0.35417	D	0.792927	D;P;P	0.54964	0.969;0.947;0.947	P;P;B	0.49752	0.621;0.541;0.417	T	0.55642	-0.8109	10	0.62326	D	0.03	-13.9309	9.664	0.39972	0.0:0.8411:0.0:0.1589	.	417;406;406	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	M	406	ENSP00000206423:R406M;ENSP00000411814:R406M	ENSP00000206423:R406M	R	-	2	0	CCDC80	113840226	0.671000	0.27521	0.244000	0.24202	0.173000	0.22820	0.850000	0.27737	1.290000	0.44636	0.555000	0.69702	AGG		0.607	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		17	50	1	0	5.01169e-05	1	5.57261e-05	17	50				
ATP11C	286410	broad.mit.edu	37	X	138880488	138880488	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:138880488T>C	ENST00000327569.3	-	10	908	c.810A>G	c.(808-810)gaA>gaG	p.E270E	ATP11C_ENST00000370543.1_Silent_p.E270E|ATP11C_ENST00000370557.1_Silent_p.E267E|ATP11C_ENST00000361648.2_Silent_p.E270E|ATP11C_ENST00000460773.1_5'Flank|ATP11C_ENST00000359686.2_Silent_p.E270E	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	270					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CCATTTTGGTTTCCATTCCAG	0.343																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(799-801)gaA>gaG		ATPase, class VI, type 11C							111.0	95.0	100.0					X																	138880488		2202	4300	6502	SO:0001819	synonymous_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138880488T>C	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.810A>G	X.37:g.138880488T>C						ATP11C_ENST00000327569.3_Silent_p.E270E|ATP11C_ENST00000370543.1_Silent_p.E270E|ATP11C_ENST00000361648.2_Silent_p.E270E|ATP11C_ENST00000359686.2_Silent_p.E270E	p.E267E			Q8NB49	AT11C_HUMAN			10	1828	-	Acute lymphoblastic leukemia(192;0.000127)		270					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	c.801A>G	CCDS14668.1																																																																																				0.343	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		23	58	0	0	0	1	0	23	58				
ACVR1C	130399	broad.mit.edu	37	2	158443803	158443803	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:158443803G>A	ENST00000243349.8	-	2	560	c.200C>T	c.(199-201)cCa>cTa	p.P67L	ACVR1C_ENST00000409680.3_Missense_Mutation_p.P17L|ACVR1C_ENST00000335450.7_Missense_Mutation_p.P67L|ACVR1C_ENST00000348328.5_Missense_Mutation_p.P67L	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATTCAGTTCTGGAAGGGAGAC	0.433																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(199-201)cCa>cTa		activin A receptor, type IC							333.0	314.0	321.0					2																	158443803		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158443803G>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.200C>T	2.37:g.158443803G>A	ENSP00000243349:p.Pro67Leu					ACVR1C_ENST00000348328.5_Missense_Mutation_p.P67L|ACVR1C_ENST00000409680.3_Missense_Mutation_p.P17L|ACVR1C_ENST00000335450.7_Missense_Mutation_p.P67L	p.P67L	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			2	560	-			67						Missense_Mutation	SNP	ENST00000243349.8	37	c.200C>T	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928402	0.73327	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45	5.24	5.24	0.73138	TGF-beta receptor/activin receptor, type I/II (1);	0.000000	0.53938	D	0.000053	D	0.95513	0.8542	L	0.47716	1.5	0.38496	D	0.948092	B;B;B	0.19073	0.002;0.002;0.033	B;B;B	0.28553	0.006;0.006;0.091	D	0.93599	0.6928	10	0.27785	T	0.31	.	18.8331	0.92150	0.0:0.0:1.0:0.0	.	67;67;67	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	L	67;17;67;67	ENSP00000243349:P67L;ENSP00000387168:P17L;ENSP00000335139:P67L;ENSP00000335178:P67L	ENSP00000243349:P67L	P	-	2	0	ACVR1C	158152049	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.920000	0.75799	2.470000	0.83445	0.650000	0.86243	CCA		0.433	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		65	182	0	0	0	1	0	65	182				
MPO	4353	broad.mit.edu	37	17	56356775	56356775	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:56356775C>A	ENST00000225275.3	-	5	737	c.561G>T	c.(559-561)acG>acT	p.T187T	MPO_ENST00000340482.3_Silent_p.T219T|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	187					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGGCCCCCAGCGTGGGGCTGC	0.706																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(655-657)acG>acT		myeloperoxidase	Cefdinir(DB00535)						13.0	18.0	16.0					17																	56356775		2197	4299	6496	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56356775C>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.561G>T	17.37:g.56356775C>A						MPO_ENST00000225275.3_Silent_p.T187T	p.T219T			P05164	PERM_HUMAN			4	833	-			187					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.657G>T	CCDS11604.1																																																																																				0.706	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			8	22	1	0	1.58986e-06	1	1.87019e-06	8	22				
COL22A1	169044	broad.mit.edu	37	8	139620205	139620205	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:139620205C>T	ENST00000303045.6	-	57	4452	c.4006G>A	c.(4006-4008)Gga>Aga	p.G1336R	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1316R|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1336	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGGCTCTCCTGGAGATCCC	0.517										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4006-4008)Gga>Aga		collagen, type XXII, alpha 1							97.0	95.0	96.0					8																	139620205		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139620205C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4006G>A	8.37:g.139620205C>T	ENSP00000303153:p.Gly1336Arg	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G1316R|COL22A1_ENST00000341807.4_5'UTR	p.G1336R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		57	4452	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1336			Collagen-like 13.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4006G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.457959	0.63401	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99637	-6.29;-6.29	5.57	4.69	0.59074	.	0.288859	0.24554	N	0.037530	D	0.99579	0.9848	H	0.98936	4.375	0.58432	D	0.99999	B;P	0.42357	0.073;0.777	B;B	0.42738	0.021;0.396	D	0.97684	1.0174	10	0.87932	D	0	.	15.6498	0.77081	0.0:0.8625:0.1375:0.0	.	1316;1336	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	1336;1316;1029	ENSP00000303153:G1336R;ENSP00000387655:G1316R	ENSP00000303153:G1336R	G	-	1	0	COL22A1	139689387	1.000000	0.71417	0.830000	0.32933	0.748000	0.42578	6.480000	0.73604	1.337000	0.45525	0.563000	0.77884	GGA		0.517	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	66	0	0	0	1	0	6	66				
BRINP1	1620	broad.mit.edu	37	9	122075564	122075564	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:122075564G>T	ENST00000265922.3	-	2	531	c.70C>A	c.(70-72)Cac>Aac	p.H24N	BRINP1_ENST00000373964.2_Missense_Mutation_p.H24N	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	24					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGTTCCTGGTGGGAGGGCTGC	0.512																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(70-72)Cac>Aac									113.0	108.0	109.0					9																	122075564		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122075564G>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.70C>A	9.37:g.122075564G>T	ENSP00000265922:p.His24Asn					DBC1_ENST00000373964.2_Missense_Mutation_p.H24N	p.H24N	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			2	531	-			24					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.70C>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328298	0.41197	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.41065	2.6;1.01	5.39	4.49	0.54785	.	0.474143	0.25984	N	0.027045	T	0.23926	0.0579	N	0.14661	0.345	0.31300	N	0.688384	B;B	0.14438	0.007;0.01	B;B	0.12156	0.007;0.006	T	0.10800	-1.0614	10	0.27082	T	0.32	-8.7317	9.266	0.37641	0.1561:0.0:0.8439:0.0	.	24;24	O60477-2;O60477	.;DBC1_HUMAN	N	24	ENSP00000265922:H24N;ENSP00000363075:H24N	ENSP00000265922:H24N	H	-	1	0	DBC1	121115385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.076000	0.71267	2.543000	0.85770	0.655000	0.94253	CAC		0.512	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		37	44	1	0	2.75727e-19	1	4.38286e-19	37	44				
SESTD1	91404	broad.mit.edu	37	2	180008416	180008416	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:180008416A>T	ENST00000428443.3	-	9	1068	c.752T>A	c.(751-753)tTa>tAa	p.L251*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	251							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAGTGAATCTAATAATTTCAT	0.453																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(751-753)tTa>tAa		SEC14 and spectrin domains 1							146.0	145.0	145.0					2																	180008416		2203	4300	6503	SO:0001587	stop_gained	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180008416A>T	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.752T>A	2.37:g.180008416A>T	ENSP00000415332:p.Leu251*						p.L251*	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	1068	-			251					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Nonsense_Mutation	SNP	ENST00000428443.3	37	c.752T>A	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	A	33	5.261441	0.95368	.	.	ENSG00000187231	ENST00000428443	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3224	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	X	251	.	.	L	-	2	0	SESTD1	179716661	1.000000	0.71417	0.957000	0.39632	0.982000	0.71751	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	TTA		0.453	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		19	77	0	0	0	1	0	19	77				
C10orf88	80007	broad.mit.edu	37	10	124708225	124708225	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:124708225C>A	ENST00000481909.1	-	4	812	c.588G>T	c.(586-588)atG>atT	p.M196I	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	196										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		ACTTTGACCCCATGGACTCCA	0.423																																						ENST00000481909.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18						c.(586-588)atG>atT		chromosome 10 open reading frame 88							116.0	107.0	110.0					10																	124708225		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124708225C>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.588G>T	10.37:g.124708225C>A	ENSP00000419126:p.Met196Ile					C10orf88_ENST00000368891.5_5'UTR	p.M196I	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	4	812	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	196					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.588G>T	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117978	0.77323	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	U	0.000000	T	0.80160	0.4572	M	0.80847	2.515	0.48571	D	0.999675	D	0.71674	0.998	D	0.78314	0.991	D	0.84211	0.0456	9	0.87932	D	0	.	17.2398	0.87010	0.0:1.0:0.0:0.0	.	196	Q9H8K7	CJ088_HUMAN	I	196	.	ENSP00000419126:M196I	M	-	3	0	C10orf88	124698215	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	2.144000	0.42197	2.111000	0.64477	0.440000	0.28878	ATG		0.423	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		15	38	1	0	1.49906e-05	1	1.69153e-05	15	38				
RPP40	10799	broad.mit.edu	37	6	5004205	5004205	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:5004205G>A	ENST00000380051.2	-	1	76	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RPP40_ENST00000319533.5_Missense_Mutation_p.P11L|RPP40_ENST00000464646.1_5'Flank	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	11					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TAAGTGCCGCGGCGCCTCCCG	0.672											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380051.2																			0				NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14						c.(31-33)cCg>cTg		ribonuclease P/MRP 40kDa subunit							53.0	50.0	51.0					6																	5004205		2202	4300	6502	SO:0001583	missense	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:5004205G>A	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.32C>T	6.37:g.5004205G>A	ENSP00000369391:p.Pro11Leu		OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	623	RPP40_ENST00000319533.5_Missense_Mutation_p.P11L	p.P11L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN			1	76	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	11					Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	c.32C>T	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.557905	0.45590	.	.	ENSG00000124787	ENST00000380051;ENST00000319533	T;T	0.74209	-0.11;-0.82	4.23	3.36	0.38483	.	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	M	0.68593	2.085	0.80722	D	1	B;D	0.89917	0.35;1.0	B;D	0.91635	0.042;0.999	T	0.80986	-0.1137	10	0.87932	D	0	-10.9859	10.7844	0.46397	0.0945:0.0:0.9054:0.0	.	11;11	O75818-2;O75818	.;RPP40_HUMAN	L	11	ENSP00000369391:P11L;ENSP00000317998:P11L	ENSP00000317998:P11L	P	-	2	0	RPP40	4949204	1.000000	0.71417	0.020000	0.16555	0.001000	0.01503	6.054000	0.71096	0.988000	0.38734	-0.262000	0.10625	CCG		0.672	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		33	81	0	0	0	1	0	33	81				
PCLO	27445	broad.mit.edu	37	7	82474617	82474617	+	Silent	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:82474617T>A	ENST00000333891.9	-	13	14353	c.14016A>T	c.(14014-14016)tcA>tcT	p.S4672S	PCLO_ENST00000423517.2_Silent_p.S4672S|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTGCTCACTGAGGGGGACC	0.478																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(14014-14016)tcA>tcT		piccolo presynaptic cytomatrix protein							50.0	51.0	51.0					7																	82474617		2008	4175	6183	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474617T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14016A>T	7.37:g.82474617T>A						PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Silent_p.S4672S	p.S4672S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			13	14353	-			4560						Silent	SNP	ENST00000333891.9	37	c.14016A>T	CCDS47630.1																																																																																				0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	32	0	0	0	1	0	6	32				
SELP	6403	broad.mit.edu	37	1	169578749	169578749	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:169578749G>A	ENST00000263686.6	-	8	1363	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V	SELP_ENST00000367792.2_Silent_p.V380V|SELP_ENST00000367786.2_Silent_p.V380V|SELP_ENST00000367793.2_Silent_p.V380V|SELP_ENST00000458599.2_Silent_p.V380V|SELP_ENST00000367788.2_Silent_p.V380V|SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Silent_p.V380V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	442	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TACCTTGACAGACTGGGGCTG	0.488																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1324-1326)gtC>gtT		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						155.0	128.0	137.0					1																	169578749		2203	4300	6503	SO:0001819	synonymous_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578749G>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1326C>T	1.37:g.169578749G>A						SELP_ENST00000458599.2_Silent_p.V380V|SELP_ENST00000367794.2_Silent_p.V380V|SELP_ENST00000367786.2_Silent_p.V380V|SELP_ENST00000367792.2_Silent_p.V380V|SELP_ENST00000367793.2_Silent_p.V380V|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Silent_p.V380V	p.V442V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			8	1363	-	all_hematologic(923;0.208)		442			Sushi 4.		Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	c.1326C>T	CCDS1282.1																																																																																				0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		10	38	0	0	0	1	0	10	38				
NDUFB8	4714	broad.mit.edu	37	10	102286236	102286236	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:102286236A>C	ENST00000299166.4	-	4	400	c.388T>G	c.(388-390)Tgt>Ggt	p.C130G	NDUFB8_ENST00000531258.1_Missense_Mutation_p.C130G|NDUFB8_ENST00000370320.4_Missense_Mutation_p.C130G|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000370322.1_Missense_Mutation_p.C99G|NDUFB8_ENST00000557395.1_Missense_Mutation_p.C130G	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	130					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		AGCTGCATACACATGACATGC	0.507																																						ENST00000557395.1																			0				endometrium(2)|lung(2)	4						c.(388-390)Tgt>Ggt		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	NADH(DB00157)						150.0	114.0	127.0					10																	102286236		2203	4300	6503	SO:0001583	missense	4714				mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr10:102286236A>C	AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136		"""Mitochondrial respiratory chain complex / Complex I"""	7703	protein-coding gene	gene with protein product	"""complex I ASHI subunit"""	602140	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)"""			9763676	Standard	NM_001284368		Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000299166.4:c.388T>G	10.37:g.102286236A>C	ENSP00000299166:p.Cys130Gly					NDUFB8_ENST00000299166.4_Missense_Mutation_p.C130G|NDUFB8_ENST00000370322.1_Missense_Mutation_p.C99G|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000531258.1_Missense_Mutation_p.C130G|NDUFB8_ENST00000370320.4_Missense_Mutation_p.C130G	p.C130G			O95169	NDUB8_HUMAN		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	4	417	-		Colorectal(252;0.234)	130					A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Missense_Mutation	SNP	ENST00000299166.4	37	c.388T>G	CCDS7497.1	.	.	.	.	.	.	.	.	.	.	A	16.38	3.106633	0.56291	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370322;ENST00000370320	.	.	.	5.39	5.39	0.77823	.	0.118993	0.64402	D	0.000002	T	0.69052	0.3068	M	0.81942	2.565	0.54753	D	0.999982	D	0.71674	0.998	D	0.67231	0.95	T	0.69168	-0.5216	9	0.17369	T	0.5	-25.1971	5.4067	0.16326	0.7409:0.0:0.1126:0.1465	.	130	O95169	NDUB8_HUMAN	G	130;130;99;130	.	ENSP00000299166:C130G	C	-	1	0	NDUFB8	102276226	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	3.592000	0.53993	2.185000	0.69588	0.454000	0.30748	TGT		0.507	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051225.1	NM_005004		17	43	0	0	0	1	0	17	43				
PCDHGB4	8641	broad.mit.edu	37	5	140768979	140768979	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140768979G>A	ENST00000519479.1	+	1	1528	c.1528G>A	c.(1528-1530)Ggg>Agg	p.G510R	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGAGCGGGGTGGTGTT	0.662																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1528-1530)Ggg>Agg									50.0	56.0	54.0					5																	140768979		2028	4178	6206	SO:0001583	missense	8641							g.chr5:140768979G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1528G>A	5.37:g.140768979G>A	ENSP00000428288:p.Gly510Arg					PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.G510R	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1528	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1528G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	25.3	4.625369	0.87560	.	.	ENSG00000253953	ENST00000519479	D	0.91464	-2.85	5.18	5.18	0.71444	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.97860	0.9297	H	0.99650	4.68	0.44055	D	0.996797	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99737	1.1014	9	0.87932	D	0	.	18.7006	0.91619	0.0:0.0:1.0:0.0	.	510;510	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	R	510	ENSP00000428288:G510R	ENSP00000428288:G510R	G	+	1	0	PCDHGB4	140749163	1.000000	0.71417	0.979000	0.43373	0.602000	0.36980	9.221000	0.95188	2.572000	0.86782	0.655000	0.94253	GGG		0.662	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		12	80	0	0	0	1	0	12	80				
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	CAAACACGCACCTCAAAGCTG	0.527		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"""		133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(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	GRCh37	CM920676	TP53	M	rs121912657	c.(814-816)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							62.0	54.0	57.0					17																	7577124		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.chr17:7577124C>T	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met	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.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272M	p.V272M	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)	8	946	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	272		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|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.814G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	17	0	0	0	1	0	15	17				
ATP6V0E2	155066	broad.mit.edu	37	7	149576766	149576766	+	3'UTR	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:149576766A>T	ENST00000425642.2	+	0	631				ATP6V0E2_ENST00000421974.2_Nonstop_Mutation_p.*214C|ATP6V0E2_ENST00000479613.1_Nonstop_Mutation_p.*188C|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000606024.1_Nonstop_Mutation_p.*165C|ATP6V0E2-AS1_ENST00000464939.1_RNA|RP11-445N20.3_ENST00000608912.1_lincRNA			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2						ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCCCATCCTGAGGAGGACACG	0.637																																						ENST00000421974.2																			0				lung(1)	1						c.(640-642)tgA>tgT		ATPase, H+ transporting V0 subunit e2							35.0	38.0	37.0					7																	149576766		2014	4182	6196	SO:0001624	3_prime_UTR_variant	155066				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity	g.chr7:149576766A>T	AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"""ATPases / V-type"""	21723	protein-coding gene	gene with protein product		611019	"""chromosome 7 open reading frame 32"", ""ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"""	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.*362A>T	7.37:g.149576766A>T						ATP6V0E2_ENST00000606024.1_Nonstop_Mutation_p.*165C|ATP6V0E2_ENST00000456496.2_3'UTR|ATP6V0E2_ENST00000479613.1_Nonstop_Mutation_p.*188C|ATP6V0E2_ENST00000425642.2_3'UTR	p.*214C	NM_001100592.1	NP_001094062.1	Q8NHE4	VA0E2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00256)		3	1593	+			0					A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Nonstop_Mutation	SNP	ENST00000425642.2	37	c.642A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.419|3.419	-0.118536|-0.118536	0.06838|0.06838	.|.	.|.	ENSG00000171130|ENSG00000171130	ENST00000307445|ENST00000421974;ENST00000425642;ENST00000479613	.|.	.|.	.|.	2.29|2.29	-1.92|-1.92	0.07618|0.07618	.|.	.|.	.|.	.|.	.|.	T|.	0.17662|.	0.0424|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23440|.	-1.0188|.	5|.	0.87932|.	D|.	0|.	.|.	0.0333|0.0333	0.00006|0.00006	0.3325:0.2049:0.1812:0.2815|0.3325:0.2049:0.1812:0.2815	.|.	.|.	.|.	.|.	V|C	133|214;165;188	.|.	ENSP00000304519:E133V|.	E|X	+|+	2|3	0|0	ATP6V0E2|ATP6V0E2	149207699|149207699	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.141000|0.141000	0.21300|0.21300	-0.599000|-0.599000	0.05700|0.05700	-0.418000|-0.418000	0.07450|0.07450	0.260000|0.260000	0.18958|0.18958	GAG|TGA		0.637	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470874.1	NM_145230		3	9	0	0	0	1	0	3	9				
BBS12	166379	broad.mit.edu	37	4	123663245	123663245	+	Silent	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:123663245G>T	ENST00000314218.3	+	2	391	c.198G>T	c.(196-198)gtG>gtT	p.V66V	BBS12_ENST00000542236.1_Silent_p.V66V	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	66					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CCAGTGCAGTGGGACAACTTC	0.358									Bardet-Biedl syndrome																													ENST00000542236.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(196-198)gtG>gtT		Bardet-Biedl syndrome 12							102.0	102.0	102.0					4																	123663245		2203	4300	6503	SO:0001819	synonymous_variant	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123663245G>T	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.198G>T	4.37:g.123663245G>T						BBS12_ENST00000314218.3_Silent_p.V66V	p.V66V	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN			3	579	+			66					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	c.198G>T	CCDS3728.1																																																																																				0.358	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		16	57	1	0	1.15088e-07	1	1.40254e-07	16	57				
G6PD	2539	broad.mit.edu	37	X	153762678	153762678	+	Silent	SNP	G	G	A	rs200111236		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153762678G>A	ENST00000393564.2	-	6	631	c.519C>T	c.(517-519)ttC>ttT	p.F173F	G6PD_ENST00000393562.2_Silent_p.F203F|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Silent_p.F173F	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	173					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCCCTCCCGAAGGGCTTCT	0.617													G|||	5	0.0013245	0.0	0.0	3775	,	,		14422	0.005		0.0	False		,,,				2504	0.0					ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	GRCh37	CM973140	G6PD	M		c.(607-609)ttC>ttT		glucose-6-phosphate dehydrogenase							80.0	67.0	71.0					X																	153762678		2203	4300	6503	SO:0001819	synonymous_variant	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153762678G>A	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.519C>T	X.37:g.153762678G>A						G6PD_ENST00000369620.2_Silent_p.F173F|G6PD_ENST00000393564.2_Silent_p.F173F	p.F203F	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			6	992	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		173					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Silent	SNP	ENST00000393564.2	37	c.609C>T	CCDS44023.1																																																																																				0.617	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		14	67	0	0	0	1	0	14	67				
SULT1C3	442038	broad.mit.edu	37	2	108869876	108869876	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:108869876C>T	ENST00000329106.2	+	3	377	c.377C>T	c.(376-378)tCt>tTt	p.S126F	SULT1C3_ENST00000376700.1_Missense_Mutation_p.S126F	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	126					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATTCCACCATCTATCTGGAAA	0.343																																						ENST00000376700.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(376-378)tCt>tTt		sulfotransferase family, cytosolic, 1C, member 3							86.0	82.0	83.0					2																	108869876		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108869876C>T	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.377C>T	2.37:g.108869876C>T	ENSP00000333310:p.Ser126Phe					SULT1C3_ENST00000329106.2_Missense_Mutation_p.S126F	p.S126F			Q6IMI6	ST1C3_HUMAN			3	377	+			126					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.377C>T	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.832795	0.50951	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	D;D	0.84660	-1.88;-1.88	2.96	2.96	0.34315	Sulfotransferase domain (1);	0.280739	0.25494	N	0.030294	D	0.92935	0.7752	M	0.92604	3.325	0.09310	N	0.999996	D	0.71674	0.998	D	0.66602	0.945	D	0.86139	0.1580	10	0.72032	D	0.01	.	13.3499	0.60595	0.0:1.0:0.0:0.0	.	126	Q6IMI6	ST1C3_HUMAN	F	126	ENSP00000333310:S126F;ENSP00000365890:S126F	ENSP00000333310:S126F	S	+	2	0	SULT1C3	108236308	0.110000	0.22057	0.008000	0.14137	0.398000	0.30690	1.330000	0.33781	1.637000	0.50538	0.591000	0.81541	TCT		0.343	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		13	32	0	0	0	1	0	13	32				
RLTPR	146206	broad.mit.edu	37	16	67685183	67685183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:67685183G>T	ENST00000334583.6	+	23	2606	c.2278G>T	c.(2278-2280)Gag>Tag	p.E760*	RLTPR_ENST00000545661.1_Nonsense_Mutation_p.E724*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	760					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCGCCAGGCCGAGGATGCCAT	0.612																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2278-2280)Gag>Tag		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							70.0	77.0	74.0					16																	67685183		2150	4258	6408	SO:0001587	stop_gained	146206							g.chr16:67685183G>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2278G>T	16.37:g.67685183G>T	ENSP00000334958:p.Glu760*					RLTPR_ENST00000545661.1_Nonsense_Mutation_p.E724*	p.E760*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	23	2606	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	760					B8X2Z3	Nonsense_Mutation	SNP	ENST00000334583.6	37	c.2278G>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	38	7.197709	0.98129	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	.	.	.	5.49	4.54	0.55810	.	0.145133	0.47093	D	0.000260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-12.461	11.3552	0.49611	0.085:0.0:0.915:0.0	.	.	.	.	X	760;724	.	ENSP00000334958:E760X	E	+	1	0	RLTPR	66242684	0.998000	0.40836	0.860000	0.33809	0.665000	0.39181	3.085000	0.50151	1.323000	0.45263	0.563000	0.77884	GAG		0.612	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		21	63	1	0	2.39556e-15	1	3.57769e-15	21	63				
CHRD	8646	broad.mit.edu	37	3	184100487	184100487	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:184100487C>A	ENST00000204604.1	+	8	1153	c.907C>A	c.(907-909)Ctc>Atc	p.L303I	CHRD_ENST00000348986.3_Missense_Mutation_p.L303I|CHRD_ENST00000545352.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.L303I	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	303	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATCACCCTGCTCACTCTCAG	0.587																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(907-909)Ctc>Atc		chordin							71.0	77.0	75.0					3																	184100487		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184100487C>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.907C>A	3.37:g.184100487C>A	ENSP00000204604:p.Leu303Ile					CHRD_ENST00000348986.3_Missense_Mutation_p.L303I|CHRD_ENST00000450923.1_Missense_Mutation_p.L303I|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_5'UTR	p.L303I	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1153	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		303			CHRD 2.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.907C>A	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708037	0.68615	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.47177	0.85;0.85;0.85	5.01	5.01	0.66863	CHRD (3);	0.000000	0.64402	D	0.000001	T	0.64538	0.2607	L	0.55481	1.735	0.80722	D	1	P;D	0.76494	0.642;0.999	P;D	0.70487	0.574;0.969	T	0.67177	-0.5736	10	0.72032	D	0.01	-20.4353	17.2831	0.87134	0.0:1.0:0.0:0.0	.	303;303	E7ESX1;Q9H2X0	.;CHRD_HUMAN	I	303	ENSP00000204604:L303I;ENSP00000408972:L303I;ENSP00000334036:L303I	ENSP00000204604:L303I	L	+	1	0	CHRD	185583181	1.000000	0.71417	0.977000	0.42913	0.883000	0.51084	3.092000	0.50207	2.488000	0.83962	0.563000	0.77884	CTC		0.587	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		22	123	1	0	3.7963e-18	1	5.95167e-18	22	123				
C20orf194	25943	broad.mit.edu	37	20	3306916	3306916	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:3306916C>A	ENST00000252032.9	-	13	1183	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	C20orf194_ENST00000453730.2_Missense_Mutation_p.Q110H	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	372										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CAGCATATATCTGGGACAATA	0.353																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(1114-1116)caG>caT		chromosome 20 open reading frame 194							82.0	76.0	78.0					20																	3306916		1868	4107	5975	SO:0001583	missense	25943							g.chr20:3306916C>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1116G>T	20.37:g.3306916C>A	ENSP00000252032:p.Gln372His					C20orf194_ENST00000453730.2_Missense_Mutation_p.Q110H	p.Q372H	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			13	1183	-			372					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.1116G>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733462	0.48939	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.34472	2.14;1.36	6.07	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	L	0.31294	0.92	0.51233	D	0.999912	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.10636	-1.0621	10	0.33940	T	0.23	.	9.9188	0.41450	0.0:0.8498:0.0:0.1502	.	111;372	Q0IIP3;Q5TEA3	.;CT194_HUMAN	H	372;110	ENSP00000252032:Q372H;ENSP00000407229:Q110H	ENSP00000252032:Q372H	Q	-	3	2	C20orf194	3254916	0.997000	0.39634	0.998000	0.56505	0.993000	0.82548	1.595000	0.36708	2.884000	0.98904	0.655000	0.94253	CAG		0.353	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		9	36	1	0	1.76689e-08	1	2.20922e-08	9	36				
ZNF516	9658	broad.mit.edu	37	18	74154296	74154296	+	Missense_Mutation	SNP	C	C	A	rs12961584		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:74154296C>A	ENST00000443185.2	-	3	1032	c.715G>T	c.(715-717)Ggc>Tgc	p.G239C	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	239			G -> S (in dbSNP:rs12961584).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCGGGCTTGCCGTTCTCCACG	0.692																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(715-717)Ggc>Tgc		zinc finger protein 516							12.0	14.0	14.0					18																	74154296		2065	4189	6254	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154296C>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.715G>T	18.37:g.74154296C>A	ENSP00000394757:p.Gly239Cys					ZNF516_ENST00000524431.2_5'UTR	p.G239C	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1032	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	239		G -> S (in dbSNP:rs12961584).				Missense_Mutation	SNP	ENST00000443185.2	37	c.715G>T		.	.	.	.	.	.	.	.	.	.	C	11.63	1.695010	0.30052	.	.	ENSG00000101493	ENST00000443185	T	0.11930	2.73	4.39	3.5	0.40072	.	0.497156	0.19611	N	0.110146	T	0.11239	0.0274	.	.	.	0.33419	D	0.579609	B	0.25809	0.135	B	0.20767	0.031	T	0.10086	-1.0645	9	0.36615	T	0.2	-22.5334	12.8858	0.58042	0.3101:0.6899:0.0:0.0	.	239	Q92618	ZN516_HUMAN	C	239	ENSP00000394757:G239C	ENSP00000394757:G239C	G	-	1	0	ZNF516	72283284	0.628000	0.27138	0.994000	0.49952	0.971000	0.66376	1.269000	0.33074	1.187000	0.43000	0.557000	0.71058	GGC		0.692	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		3	10	1	0	1	1	1	3	10				
MFSD12	126321	broad.mit.edu	37	19	3557192	3557192	+	Silent	SNP	C	C	A	rs370580044	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:3557192C>A	ENST00000355415.2	-	1	379	c.210G>T	c.(208-210)ggG>ggT	p.G70G	AC005786.5_ENST00000592368.1_lincRNA|MFSD12_ENST00000591878.1_Intron|MFSD12_ENST00000389395.3_Silent_p.G70G|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Silent_p.G70G	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	70					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GTGTGCACAGCCCGTCGGCCA	0.731													C|||	5	0.000998403	0.003	0.0	5008	,	,		9451	0.0		0.001	False		,,,				2504	0.0					ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(208-210)ggG>ggT		major facilitator superfamily domain containing 12		C	,,	15,3941		0,15,1963	10.0	13.0	12.0		210,210,210	1.2	1.0	19		12	2,8184		0,2,4091	no	coding-synonymous,coding-synonymous,coding-synonymous	C19orf28	NM_001042680.1,NM_021731.2,NM_174983.3	,,	0,17,6054	AA,AC,CC		0.0244,0.3792,0.14	,,	70/474,70/539,70/481	3557192	17,12125	1978	4093	6071	SO:0001819	synonymous_variant	126321				transmembrane transport	integral to membrane		g.chr19:3557192C>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.210G>T	19.37:g.3557192C>A						MFSD12_ENST00000591878.1_Intron|MFSD12_ENST00000398558.4_Silent_p.G70G|MFSD12_ENST00000389395.3_Silent_p.G70G|AC005786.7_ENST00000589360.1_RNA	p.G70G	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			1	379	-			70					A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	37	c.210G>T	CCDS42465.1																																																																																				0.731	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		3	7	1	0	0.115264	1	0.116282	3	7				
CUX2	23316	broad.mit.edu	37	12	111744815	111744815	+	Missense_Mutation	SNP	G	G	A	rs369796774		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:111744815G>A	ENST00000261726.6	+	11	1103	c.949G>A	c.(949-951)Gtg>Atg	p.V317M		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	317					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGAAGGACGTGCAGCACCT	0.647																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(949-951)Gtg>Atg		cut-like homeobox 2		G	MET/VAL	2,3978		0,2,1988	41.0	45.0	44.0		949	4.3	0.6	12		44	1,8333		0,1,4166	no	missense	CUX2	NM_015267.3	21	0,3,6154	AA,AG,GG		0.012,0.0503,0.0244	possibly-damaging	317/1487	111744815	3,12311	1990	4167	6157	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111744815G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.949G>A	12.37:g.111744815G>A	ENSP00000261726:p.Val317Met						p.V317M	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			11	1103	+			317					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.949G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119856	0.37436	5.03E-4	1.2E-4	ENSG00000111249	ENST00000261726	T	0.54866	0.55	5.3	4.29	0.51040	.	0.241180	0.40818	N	0.001003	T	0.30665	0.0772	L	0.27053	0.805	0.27830	N	0.941476	P	0.43662	0.814	B	0.35859	0.212	T	0.30149	-0.9988	10	0.46703	T	0.11	-10.1246	3.6533	0.08212	0.3565:0.0:0.6435:0.0	.	317	O14529	CUX2_HUMAN	M	317	ENSP00000261726:V317M	ENSP00000261726:V317M	V	+	1	0	CUX2	110229198	0.936000	0.31750	0.609000	0.28983	0.142000	0.21351	1.864000	0.39469	2.483000	0.83821	0.643000	0.83706	GTG		0.647	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		19	64	0	0	0	1	0	19	64				
ADCYAP1R1	117	broad.mit.edu	37	7	31126602	31126602	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:31126602A>G	ENST00000304166.4	+	11	1158	c.869A>G	c.(868-870)tAc>tGc	p.Y290C	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y269C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y290C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y290C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	290					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGAGACTCTACTTTGATGAC	0.502																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(868-870)tAc>tGc		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							224.0	199.0	208.0					7																	31126602		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126602A>G		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.869A>G	7.37:g.31126602A>G	ENSP00000306620:p.Tyr290Cys					ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Y290C|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Y290C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Y269C	p.Y290C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			11	1158	+			290					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.869A>G	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.315172	0.40996	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.36699	1.49;1.25;1.24;1.24	5.56	5.56	0.83823	GPCR, family 2-like (1);	0.053051	0.85682	D	0.000000	T	0.53367	0.1792	M	0.71296	2.17	0.48288	D	0.999624	P;P;P;P;P	0.48911	0.917;0.917;0.917;0.837;0.837	P;P;P;P;P	0.56343	0.796;0.796;0.704;0.796;0.704	T	0.54529	-0.8280	10	0.48119	T	0.1	.	13.6711	0.62424	1.0:0.0:0.0:0.0	.	290;290;290;269;290	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	C	290;61;269;290;290	ENSP00000306620:Y290C;ENSP00000387335:Y269C;ENSP00000379514:Y290C;ENSP00000386395:Y290C	ENSP00000306620:Y290C	Y	+	2	0	ADCYAP1R1	31093127	1.000000	0.71417	0.990000	0.47175	0.644000	0.38419	8.481000	0.90437	2.102000	0.63906	0.528000	0.53228	TAC		0.502	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		34	102	0	0	0	1	0	34	102				
SLITRK4	139065	broad.mit.edu	37	X	142717055	142717055	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:142717055T>A	ENST00000381779.4	-	2	2095	c.1870A>T	c.(1870-1872)Atc>Ttc	p.I624F	SLITRK4_ENST00000338017.4_Missense_Mutation_p.I624F|SLITRK4_ENST00000356928.1_Missense_Mutation_p.I624F	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	624						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACCACTAAGATACTTAAGATT	0.478																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1870-1872)Atc>Ttc		SLIT and NTRK-like family, member 4							77.0	79.0	78.0					X																	142717055		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717055T>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1870A>T	X.37:g.142717055T>A	ENSP00000371198:p.Ile624Phe					SLITRK4_ENST00000338017.4_Missense_Mutation_p.I624F|SLITRK4_ENST00000356928.1_Missense_Mutation_p.I624F	p.I624F	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2095	-	Acute lymphoblastic leukemia(192;6.56e-05)		624					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1870A>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174345	0.57692	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.54675	0.56;0.56;0.56	5.36	5.36	0.76844	.	0.000000	0.85682	U	0.000000	T	0.47691	0.1459	N	0.14661	0.345	0.80722	D	1	P	0.51933	0.949	P	0.52343	0.696	T	0.54938	-0.8218	10	0.72032	D	0.01	-9.5376	13.1266	0.59358	0.0:0.0:0.0:1.0	.	624	Q8IW52	SLIK4_HUMAN	F	624	ENSP00000371198:I624F;ENSP00000349400:I624F;ENSP00000336627:I624F	ENSP00000336627:I624F	I	-	1	0	SLITRK4	142544721	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	2.770000	0.47662	1.781000	0.52344	0.417000	0.27973	ATC		0.478	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		30	101	0	0	0	1	0	30	101				
WDR72	256764	broad.mit.edu	37	15	53997322	53997322	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:53997322G>C	ENST00000396328.1	-	11	1450	c.1211C>G	c.(1210-1212)aCt>aGt	p.T404S	WDR72_ENST00000559418.1_Missense_Mutation_p.T414S|WDR72_ENST00000557913.1_Missense_Mutation_p.T401S|WDR72_ENST00000360509.5_Missense_Mutation_p.T404S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	404										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GACTACAGCAGTTCCTGCCCC	0.393																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1210-1212)aCt>aGt		WD repeat domain 72							131.0	130.0	131.0					15																	53997322		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53997322G>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1211C>G	15.37:g.53997322G>C	ENSP00000379619:p.Thr404Ser					WDR72_ENST00000557913.1_Missense_Mutation_p.T401S|WDR72_ENST00000360509.5_Missense_Mutation_p.T404S|WDR72_ENST00000559418.1_Missense_Mutation_p.T414S	p.T404S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	11	1450	-			404					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1211C>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	4.700	0.130235	0.08981	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.15834	2.39;2.39	5.66	-1.35	0.09114	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.478102	0.23232	N	0.050460	T	0.05640	0.0148	N	0.13043	0.29	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.30995	-0.9959	10	0.09843	T	0.71	.	0.5416	0.00646	0.2269:0.3033:0.1879:0.2819	.	404	Q3MJ13	WDR72_HUMAN	S	404	ENSP00000379619:T404S;ENSP00000353699:T404S	ENSP00000353699:T404S	T	-	2	0	WDR72	51784614	0.000000	0.05858	0.000000	0.03702	0.570000	0.35934	0.109000	0.15417	-0.158000	0.11040	0.460000	0.39030	ACT		0.393	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		32	86	0	0	0	1	0	32	86				
TLL1	7092	broad.mit.edu	37	4	166981314	166981314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:166981314G>T	ENST00000061240.2	+	15	2628	c.1981G>T	c.(1981-1983)Gag>Tag	p.E661*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.E684*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	661	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGAAGTTTGAGTTTTTTGA	0.398																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1981-1983)Gag>Tag		tolloid-like 1							94.0	96.0	95.0					4																	166981314		2203	4300	6503	SO:0001587	stop_gained	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166981314G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1981G>T	4.37:g.166981314G>T	ENSP00000061240:p.Glu661*					TLL1_ENST00000507499.1_Nonsense_Mutation_p.E684*	p.E661*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	15	2628	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	661			CUB 3.		B2RMU2|Q96AN3|Q9NQS4	Nonsense_Mutation	SNP	ENST00000061240.2	37	c.1981G>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	45	11.558436	0.99576	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	661;684	.	ENSP00000061240:E661X	E	+	1	0	TLL1	167200764	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	9.758000	0.98927	2.894000	0.99253	0.591000	0.81541	GAG		0.398	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			13	47	1	0	7.05477e-17	1	1.08553e-16	13	47				
HDAC2	3066	broad.mit.edu	37	6	114264637	114264637	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:114264637T>A	ENST00000519065.1	-	12	1632	c.1256A>T	c.(1255-1257)gAa>gTa	p.E419V	HDAC2_ENST00000368632.2_Missense_Mutation_p.E389V|HDAC2_ENST00000398283.2_Missense_Mutation_p.E513V|HDAC2_ENST00000519108.1_Missense_Mutation_p.E389V			Q92769	HDAC2_HUMAN	histone deacetylase 2	419					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	TGAGAATTCTTCATCACAAGC	0.358																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(1255-1257)gAa>gTa		histone deacetylase 2	Vorinostat(DB02546)						137.0	120.0	125.0					6																	114264637		1850	4080	5930	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114264637T>A	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1256A>T	6.37:g.114264637T>A	ENSP00000430432:p.Glu419Val					HDAC2_ENST00000398283.2_Missense_Mutation_p.E513V|HDAC2_ENST00000519108.1_Missense_Mutation_p.E389V|HDAC2_ENST00000368632.2_Missense_Mutation_p.E389V	p.E419V			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	12	1632	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	419					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.1256A>T	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	T	27.4	4.826344	0.90955	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.75154	-0.89;-0.91;-0.89;-0.89	6.16	6.16	0.99307	.	0.074109	0.56097	D	0.000037	D	0.82495	0.5049	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.988;0.999	P;D	0.85130	0.864;0.997	T	0.81913	-0.0715	10	0.40728	T	0.16	-41.6415	16.8061	0.85666	0.0:0.0:0.0:1.0	.	389;419	B3KRS5;Q92769	.;HDAC2_HUMAN	V	419;513;389;389	ENSP00000430432:E419V;ENSP00000381331:E513V;ENSP00000430008:E389V;ENSP00000357621:E389V	ENSP00000357621:E389V	E	-	2	0	HDAC2	114371330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.565000	0.82337	2.367000	0.80283	0.528000	0.53228	GAA		0.358	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			10	39	0	0	0	1	0	10	39				
PPP1R17	10842	broad.mit.edu	37	7	31736683	31736683	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:31736683C>A	ENST00000342032.3	+	4	968	c.340C>A	c.(340-342)Cca>Aca	p.P114T	PPP1R17_ENST00000409146.3_Missense_Mutation_p.P63T|PPP1R17_ENST00000498609.1_3'UTR	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	114					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										ACAGAAAAAGCCAAGGAGAAA	0.458																																						ENST00000342032.3																			0											c.(340-342)Cca>Aca		protein phosphatase 1, regulatory subunit 17							107.0	98.0	101.0					7																	31736683		2203	4300	6503	SO:0001583	missense	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31736683C>A	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.340C>A	7.37:g.31736683C>A	ENSP00000340125:p.Pro114Thr					PPP1R17_ENST00000409146.3_Missense_Mutation_p.P63T|PPP1R17_ENST00000498609.1_3'UTR	p.P114T	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			4	968	+			114					B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.340C>A	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408978	0.83340	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.69435	0.39;-0.4	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.82235	0.4993	M	0.71581	2.175	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83090	-0.0133	10	0.87932	D	0	-13.6595	19.642	0.95762	0.0:1.0:0.0:0.0	.	63;114	B4DE58;O96001	.;PPR17_HUMAN	T	114;63	ENSP00000340125:P114T;ENSP00000386459:P63T	ENSP00000340125:P114T	P	+	1	0	C7orf16	31703208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.313000	0.65798	2.802000	0.96397	0.563000	0.77884	CCA		0.458	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		12	54	1	0	6.40141e-05	1	7.09199e-05	12	54				
RAB3GAP1	22930	broad.mit.edu	37	2	135848650	135848650	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:135848650A>G	ENST00000264158.8	+	4	276	c.233A>G	c.(232-234)tAt>tGt	p.Y78C	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.Y78C|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.Y34C|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	78					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACTCATCATTATCTTGTACAA	0.333																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(232-234)tAt>tGt		RAB3 GTPase activating protein subunit 1 (catalytic)							93.0	96.0	95.0					2																	135848650		2203	4298	6501	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135848650A>G	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.233A>G	2.37:g.135848650A>G	ENSP00000264158:p.Tyr78Cys					RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.Y34C|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.Y78C|RAB3GAP1_ENST00000487003.1_3'UTR	p.Y78C	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	4	276	+			78					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.233A>G	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.565240	0.45694	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.47528	0.85;0.84;0.86	5.14	3.83	0.44106	.	0.316290	0.35235	N	0.003349	T	0.45975	0.1369	M	0.66939	2.045	0.34904	D	0.746837	P;P	0.51791	0.89;0.948	B;B	0.43155	0.41;0.293	T	0.62388	-0.6865	10	0.40728	T	0.16	-10.833	11.0493	0.47878	0.8206:0.0:0.0:0.1794	.	78;78	C9J837;Q15042	.;RB3GP_HUMAN	C	78;34;78	ENSP00000264158:Y78C;ENSP00000444306:Y34C;ENSP00000411418:Y78C	ENSP00000264158:Y78C	Y	+	2	0	RAB3GAP1	135565120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.197000	0.51028	2.062000	0.61559	0.477000	0.44152	TAT		0.333	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		10	47	0	0	0	1	0	10	47				
GSE1	23199	broad.mit.edu	37	16	85691140	85691140	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:85691140G>C	ENST00000253458.7	+	8	1746	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	GSE1_ENST00000393243.1_Missense_Mutation_p.E451Q|RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000405402.2_Missense_Mutation_p.E420Q	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	524																	GCAGGTGCTGGAGCAGCACCT	0.687																																						ENST00000253458.7																			0											c.(1570-1572)Gag>Cag		Gse1 coiled-coil protein							12.0	15.0	14.0					16																	85691140		2168	4281	6449	SO:0001583	missense	23199							g.chr16:85691140G>C	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1570G>C	16.37:g.85691140G>C	ENSP00000253458:p.Glu524Gln					GSE1_ENST00000405402.2_Missense_Mutation_p.E420Q|GSE1_ENST00000393243.1_Missense_Mutation_p.E451Q	p.E524Q	NM_014615.2	NP_055430.1					8	1746	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.1570G>C	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.313832|4.313832	0.81358|0.81358	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243|ENST00000412692	T;T;T|.	0.72282|.	-0.64;-0.64;-0.64|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72078|0.72078	0.3416|0.3416	L|L	0.58101|0.58101	1.795|1.795	0.54753|0.54753	D|D	0.999981|0.999981	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.76071|.	0.987;0.971|.	T|T	0.70285|0.70285	-0.4914|-0.4914	10|5	0.36615|.	T|.	0.2|.	-29.4069|-29.4069	18.4259|18.4259	0.90608|0.90608	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	451;524|.	Q14687-3;Q14687|.	.;GSE1_HUMAN|.	Q|C	420;524;451|330	ENSP00000384839:E420Q;ENSP00000253458:E524Q;ENSP00000376934:E451Q|.	ENSP00000253458:E524Q|.	E|W	+|+	1|3	0|0	KIAA0182|KIAA0182	84248641|84248641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.819000|0.819000	0.46315|0.46315	7.417000|7.417000	0.80156|0.80156	2.367000|2.367000	0.80283|0.80283	0.561000|0.561000	0.74099|0.74099	GAG|TGG		0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		6	11	0	0	0	1	0	6	11				
NEFH	4744	broad.mit.edu	37	22	29885768	29885768	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:29885768G>A	ENST00000310624.6	+	4	2172	c.2139G>A	c.(2137-2139)aaG>aaA	p.K713K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	719	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGTGAAGGAAGAAGCAA	0.557																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2137-2139)aaG>aaA		neurofilament, heavy polypeptide							58.0	63.0	61.0					22																	29885768		2120	4174	6294	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29885768G>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2139G>A	22.37:g.29885768G>A							p.K713K	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2172	+			719			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.2139G>A	CCDS13858.1																																																																																				0.557	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		26	106	0	0	0	1	0	26	106				
PTPRC	5788	broad.mit.edu	37	1	198725078	198725078	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:198725078C>A	ENST00000367376.2	+	33	3854	c.3683C>A	c.(3682-3684)cCt>cAt	p.P1228H	PTPRC_ENST00000348564.6_Missense_Mutation_p.P1069H|PTPRC_ENST00000442510.2_Missense_Mutation_p.P1230H|PTPRC_ENST00000594404.1_Missense_Mutation_p.P1067H|PTPRC_ENST00000352140.3_Missense_Mutation_p.P1180H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1228					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGCACCTACCCTGCTCAGAAT	0.328																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(3682-3684)cCt>cAt		protein tyrosine phosphatase, receptor type, C							95.0	100.0	98.0					1																	198725078		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198725078C>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3683C>A	1.37:g.198725078C>A	ENSP00000356346:p.Pro1228His					PTPRC_ENST00000348564.6_Missense_Mutation_p.P1069H|PTPRC_ENST00000594404.1_Missense_Mutation_p.P1067H|PTPRC_ENST00000442510.2_Missense_Mutation_p.P1230H|PTPRC_ENST00000352140.3_Missense_Mutation_p.P1180H	p.P1228H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			33	3854	+			1228					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3683C>A		.	.	.	.	.	.	.	.	.	.	C	20.5	3.994008	0.74703	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.02763	4.17	5.7	5.7	0.88788	Protein-tyrosine phosphatase, receptor/non-receptor type (1);	0.000000	0.46442	D	0.000291	T	0.15696	0.0378	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.00025	-1.2317	10	0.87932	D	0	.	19.8349	0.96652	0.0:1.0:0.0:0.0	.	1069;1180;1228	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	H	1230;1180;1228;1067	ENSP00000193532:P1180H	ENSP00000306782:P1067H	P	+	2	0	PTPRC	196991701	1.000000	0.71417	0.969000	0.41365	0.527000	0.34593	6.867000	0.75511	2.691000	0.91804	0.557000	0.71058	CCT		0.328	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				23	37	1	0	1.85244e-09	1	2.38469e-09	23	37				
BRAT1	221927	broad.mit.edu	37	7	2581387	2581387	+	Missense_Mutation	SNP	G	G	A	rs139472984	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:2581387G>A	ENST00000340611.4	-	8	1355	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	367					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCCAGGGTGCGGCACAGGAGG	0.701																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1099-1101)Cgc>Tgc		BRCA1-associated ATM activator 1		G	CYS/ARG	1,4403		0,1,2201	19.0	28.0	25.0		1099	2.2	0.3	7	dbSNP_134	25	1,8591		0,1,4295	no	missense	BRAT1	NM_152743.3	180	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	367/822	2581387	2,12994	2202	4296	6498	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2581387G>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1099C>T	7.37:g.2581387G>A	ENSP00000339637:p.Arg367Cys						p.R367C	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			8	1355	-			367					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.1099C>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575366	0.65878	2.27E-4	1.16E-4	ENSG00000106009	ENST00000340611	T	0.68479	-0.33	5.0	2.16	0.27623	Armadillo-type fold (1);	0.566223	0.18304	N	0.145302	T	0.55321	0.1913	L	0.40543	1.245	0.32768	N	0.504128	D	0.63880	0.993	B	0.44315	0.446	T	0.63651	-0.6589	10	0.72032	D	0.01	-1.0081	6.2975	0.21095	0.1549:0.0:0.6971:0.148	.	367	Q6PJG6	BRAT1_HUMAN	C	367	ENSP00000339637:R367C	ENSP00000339637:R367C	R	-	1	0	BRAT1	2547913	1.000000	0.71417	0.318000	0.25279	0.889000	0.51656	3.101000	0.50283	0.231000	0.21079	0.462000	0.41574	CGC		0.701	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		8	13	0	0	0	1	0	8	13				
XKR9	389668	broad.mit.edu	37	8	71593479	71593479	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr8:71593479G>T	ENST00000408926.3	+	3	720	c.186G>T	c.(184-186)tgG>tgT	p.W62C	XKR9_ENST00000520030.1_Missense_Mutation_p.W62C|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	62						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GTTATTCTTGGTTCAAGGCTG	0.378																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(184-186)tgG>tgT		XK, Kell blood group complex subunit-related family, member 9							243.0	242.0	242.0					8																	71593479		2203	4300	6503	SO:0001583	missense	389668					integral to membrane		g.chr8:71593479G>T	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.186G>T	8.37:g.71593479G>T	ENSP00000386141:p.Trp62Cys					XKR9_ENST00000520030.1_Missense_Mutation_p.W62C|XKR9_ENST00000520273.1_Intron	p.W62C	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		3	720	+	Breast(64;0.0716)		62					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.186G>T	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660205	0.67586	.	.	ENSG00000221947	ENST00000408926;ENST00000520030;ENST00000519350	T;T;T	0.70516	-0.49;-0.49;-0.49	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.85579	0.5729	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87648	0.2526	10	0.87932	D	0	-5.1915	16.0321	0.80585	0.0:0.0:1.0:0.0	.	62	Q5GH70	XKR9_HUMAN	C	62	ENSP00000386141:W62C;ENSP00000431088:W62C;ENSP00000428904:W62C	ENSP00000386141:W62C	W	+	3	0	XKR9	71756033	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.775000	0.68915	2.627000	0.88993	0.585000	0.79938	TGG		0.378	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		36	226	1	0	3.11337e-16	1	4.74271e-16	36	226				
ITGA2	3673	broad.mit.edu	37	5	52344594	52344594	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:52344594G>A	ENST00000296585.5	+	6	767	c.624G>A	c.(622-624)aaG>aaA	p.K208K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	208	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCCCCACAAAGACACAGGTAT	0.333																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(622-624)aaG>aaA		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							87.0	88.0	88.0					5																	52344594		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52344594G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.624G>A	5.37:g.52344594G>A							p.K208K	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			6	767	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	208			VWFA.		Q14595	Silent	SNP	ENST00000296585.5	37	c.624G>A	CCDS3957.1																																																																																				0.333	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		4	53	0	0	0	1	0	4	53				
TTN	7273	broad.mit.edu	37	2	179615721	179615721	+	Intron	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179615721G>C	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.F3802L|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			TTTCAGTCTGGAAAATTTCTT	0.343																																						ENST00000360870.5																			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.(11404-11406)ttC>ttG		titin							117.0	127.0	124.0					2																	179615721		2198	4293	6491	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615721G>C	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.10360+2129C>G	2.37:g.179615721G>C						TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA	p.F3802L	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11628	-			9639					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.11406C>G		.	.	.	.	.	.	.	.	.	.	G	7.795	0.712418	0.15306	.	.	ENSG00000155657	ENST00000360870	T	0.53857	0.6	5.33	3.47	0.39725	.	.	.	.	.	T	0.27027	0.0662	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04565	-1.0942	9	0.11485	T	0.65	.	8.146	0.31113	0.2623:0.0:0.7377:0.0	.	3802	Q8WZ42-6	.	L	3802	ENSP00000354117:F3802L	ENSP00000354117:F3802L	F	-	3	2	TTN	179323966	1.000000	0.71417	0.816000	0.32577	0.236000	0.25371	0.507000	0.22675	0.683000	0.31428	0.655000	0.94253	TTC		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	92	0	0	0	1	0	32	92				
ANK2	287	broad.mit.edu	37	4	114120235	114120235	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:114120235G>T	ENST00000357077.4	+	4	407	c.354G>T	c.(352-354)aaG>aaT	p.K118N	ANK2_ENST00000264366.6_Missense_Mutation_p.K118N|ANK2_ENST00000506722.1_Missense_Mutation_p.K97N|ANK2_ENST00000394537.3_Missense_Mutation_p.K118N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	118					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCTTGTTAAGGAAGGAGCCA	0.348																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(352-354)aaG>aaT		ankyrin 2, neuronal							131.0	130.0	130.0					4																	114120235		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114120235G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.354G>T	4.37:g.114120235G>T	ENSP00000349588:p.Lys118Asn					ANK2_ENST00000394537.3_Missense_Mutation_p.K118N|ANK2_ENST00000506722.1_Missense_Mutation_p.K97N|ANK2_ENST00000264366.6_Missense_Mutation_p.K118N	p.K118N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	4	407	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	118					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.354G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	8.785	0.929111	0.18131	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000508613;ENST00000343056	T;T;T;T;T;T;T;T	0.67698	-0.11;0.56;0.56;0.56;0.56;-0.28;-0.28;-0.14	5.82	3.07	0.35406	Ankyrin repeat-containing domain (3);	0.116284	0.37669	N	0.001991	T	0.62109	0.2401	N	0.20304	0.555	0.80722	D	1	D;B;P;P;P	0.54207	0.965;0.029;0.913;0.837;0.82	P;B;P;P;B	0.61533	0.89;0.02;0.772;0.457;0.442	T	0.54636	-0.8264	10	0.16420	T	0.52	.	9.8955	0.41316	0.2888:0.0:0.7112:0.0	.	118;118;118;97;97	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	N	97;97;97;133;118;118;118;133;97	ENSP00000423799:K97N;ENSP00000421011:K97N;ENSP00000421067:K97N;ENSP00000424722:K133N;ENSP00000378044:K118N;ENSP00000349588:K118N;ENSP00000264366:K118N;ENSP00000422900:K133N	ENSP00000264366:K118N	K	+	3	2	ANK2	114339684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.277000	0.33167	0.764000	0.33197	0.650000	0.86243	AAG		0.348	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		20	49	1	0	1.00905e-13	1	1.4616e-13	20	49				
KLK2	3817	broad.mit.edu	37	19	51379788	51379788	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:51379788G>A	ENST00000325321.3	+	3	492	c.267G>A	c.(265-267)agG>agA	p.R89R	AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000597509.1_3'UTR|KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Silent_p.R89R			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	89	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CAGGCCAGAGGGTCCCTGTCA	0.552			T	ETV4	prostate																																	ENST00000325321.3				Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate	KLK2/ETV1(3)|KLK2/ETV4(2)	0				large_intestine(3)|lung(6)|ovary(1)|skin(1)	11						c.(265-267)agG>agA		kallikrein-related peptidase 2							56.0	49.0	52.0					19																	51379788		2203	4300	6503	SO:0001819	synonymous_variant	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51379788G>A	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.267G>A	19.37:g.51379788G>A						KLK2_ENST00000358049.4_Silent_p.R89R|KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000597509.1_3'UTR	p.R89R			P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	3	492	+		all_neural(266;0.026)	89			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Silent	SNP	ENST00000325321.3	37	c.267G>A	CCDS12808.1																																																																																				0.552	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		17	55	0	0	0	1	0	17	55				
TRPC4	7223	broad.mit.edu	37	13	38211053	38211053	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:38211053G>T	ENST00000379705.3	-	11	3778	c.2921C>A	c.(2920-2922)aCc>aAc	p.T974N	TRPC4_ENST00000358477.2_Missense_Mutation_p.T890N|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.T833N|TRPC4_ENST00000379679.1_Missense_Mutation_p.T801N|TRPC4_ENST00000379681.3_Missense_Mutation_p.T979N|TRPC4_ENST00000338947.5_Missense_Mutation_p.T801N|TRPC4_ENST00000379673.2_Missense_Mutation_p.T825N|TRPC4_ENST00000447043.1_Missense_Mutation_p.T833N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	974	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAATCTTGTGGTCACGTAATC	0.403																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2920-2922)aCc>aAc		transient receptor potential cation channel, subfamily C, member 4							122.0	115.0	117.0					13																	38211053		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211053G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2921C>A	13.37:g.38211053G>T	ENSP00000369027:p.Thr974Asn					TRPC4_ENST00000355779.2_Missense_Mutation_p.T833N|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.T979N|TRPC4_ENST00000358477.2_Missense_Mutation_p.T890N|TRPC4_ENST00000338947.5_Missense_Mutation_p.T801N|TRPC4_ENST00000447043.1_Missense_Mutation_p.T833N|TRPC4_ENST00000379673.2_Missense_Mutation_p.T825N|TRPC4_ENST00000379679.1_Missense_Mutation_p.T801N	p.T974N			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3778	-			974			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2921C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039896	0.35989	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.73258	-0.29;-0.29;-0.1;-0.1;0.04;-0.4;-0.73;0.04	5.53	5.53	0.82687	.	0.753950	0.11909	N	0.517809	T	0.71013	0.3290	N	0.14661	0.345	0.80722	D	1	P;P;P;P;D;P	0.58620	0.701;0.946;0.908;0.946;0.983;0.91	B;P;D;P;P;B	0.64144	0.133;0.649;0.922;0.551;0.806;0.245	T	0.70583	-0.4832	10	0.87932	D	0	-25.2989	11.4277	0.50020	0.0896:0.0:0.9104:0.0	.	833;825;979;801;890;974	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	N	974;979;801;801;833;890;825;833	ENSP00000369027:T974N;ENSP00000369003:T979N;ENSP00000342580:T801N;ENSP00000369001:T801N;ENSP00000348025:T833N;ENSP00000351264:T890N;ENSP00000368995:T825N;ENSP00000414316:T833N	ENSP00000342580:T801N	T	-	2	0	TRPC4	37109053	1.000000	0.71417	0.952000	0.39060	0.076000	0.17211	4.322000	0.59215	2.612000	0.88384	0.655000	0.94253	ACC		0.403	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		10	28	1	0	1.76689e-08	1	2.20922e-08	10	28				
DTX4	23220	broad.mit.edu	37	11	58956686	58956686	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:58956686G>T	ENST00000227451.3	+	4	1153	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	DTX4_ENST00000532982.1_Missense_Mutation_p.R244M|DTX4_ENST00000531902.1_3'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	350					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				TGTCTCACCAGGCCACCAAAG	0.552																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1048-1050)aGg>aTg		deltex homolog 4 (Drosophila)							35.0	41.0	39.0					11																	58956686		1932	4136	6068	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58956686G>T	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1049G>T	11.37:g.58956686G>T	ENSP00000227451:p.Arg350Met					DTX4_ENST00000532982.1_Missense_Mutation_p.R244M|DTX4_ENST00000531902.1_3'UTR	p.R350M	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			4	1153	+		all_epithelial(135;0.125)	350					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1049G>T	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097312	0.94197	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.13420	2.59;2.79	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.77313	2.365	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	T	0.26430	-1.0103	10	0.72032	D	0.01	.	18.4066	0.90538	0.0:0.0:1.0:0.0	.	350	Q9Y2E6	DTX4_HUMAN	M	244;350	ENSP00000434055:R244M;ENSP00000227451:R350M	ENSP00000227451:R350M	R	+	2	0	DTX4	58713262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.384000	0.73177	2.634000	0.89283	0.563000	0.77884	AGG		0.552	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		3	27	1	0	0.004672	1	0.00485803	3	27				
MIR509-1	574514	broad.mit.edu	37	X	146340297	146340297	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:146340297C>A	ENST00000385265.1	-	0	94				MIR509-3_ENST00000390725.1_RNA|MIR509-2_ENST00000390724.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		AGTACTCTACCCACAGACGTA	0.463																																						ENST00000390724.1																			0																				52.0	48.0	49.0					X																	146340297		1568	3574	5142			100126301							g.chrX:146340297C>A			Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146340297C>A								NR_030586.1						0	71	-									RNA	SNP	ENST00000385265.1	37																																																																																						0.463	MIR509-1-201	KNOWN	basic	miRNA	miRNA		NR_030236		23	45	1	0	1.62565e-12	1	2.265e-12	23	45				
ANLN	54443	broad.mit.edu	37	7	36458900	36458900	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:36458900A>T	ENST00000265748.2	+	10	1902	c.1681A>T	c.(1681-1683)Agt>Tgt	p.S561C	ANLN_ENST00000396068.2_Missense_Mutation_p.S524C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	561	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGATATCAATAGTTCGAAAGT	0.363																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(1681-1683)Agt>Tgt		anillin, actin binding protein							138.0	123.0	128.0					7																	36458900		2203	4300	6503	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36458900A>T	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1681A>T	7.37:g.36458900A>T	ENSP00000265748:p.Ser561Cys					ANLN_ENST00000396068.2_Missense_Mutation_p.S524C	p.S561C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			10	1902	+			561			Interaction with F-actin.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.1681A>T	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.861347	0.91433	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.25414	1.8;2.43	5.76	5.76	0.90799	.	0.083813	0.85682	D	0.000000	T	0.51805	0.1696	M	0.72894	2.215	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.99;0.999;0.969	T	0.54840	-0.8233	10	0.87932	D	0	-20.5743	16.0659	0.80870	1.0:0.0:0.0:0.0	.	438;523;524;561	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	C	561;524	ENSP00000265748:S561C;ENSP00000379380:S524C	ENSP00000265748:S561C	S	+	1	0	ANLN	36425425	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	8.702000	0.91338	2.209000	0.71365	0.533000	0.62120	AGT		0.363	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		20	51	0	0	0	1	0	20	51				
WTAP	9589	broad.mit.edu	37	6	160174647	160174647	+	Splice_Site	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:160174647G>C	ENST00000358372.4	+	7	2364		c.e7+1		SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGTCAGGATGGTAAGGGGTTT	0.408																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.e7+1		Wilms tumor 1 associated protein							82.0	76.0	78.0					6																	160174647		2203	4300	6503	SO:0001630	splice_region_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160174647G>C	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.607+1G>C	6.37:g.160174647G>C						SOD2_ENST00000546087.1_Intron		NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	7	2364	+		Breast(66;0.000776)|Ovarian(120;0.0303)						Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Splice_Site	SNP	ENST00000358372.4	37		CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648174	0.87958	.	.	ENSG00000146457	ENST00000358372	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3509	0.94384	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WTAP	160094637	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.785000	0.99042	2.653000	0.90120	0.655000	0.94253	.		0.408	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857	Intron	14	48	0	0	0	1	0	14	48				
NAA16	79612	broad.mit.edu	37	13	41885710	41885710	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:41885710C>T	ENST00000379406.3	+	1	370	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	NAA16_ENST00000403412.3_Missense_Mutation_p.R16C|NAA16_ENST00000379367.3_Missense_Mutation_p.R16C	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	16					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CCTCTTCAAACGCATCTTGGT	0.736																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(46-48)Cgc>Tgc		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							18.0	20.0	19.0					13																	41885710		2199	4293	6492	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41885710C>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.46C>T	13.37:g.41885710C>T	ENSP00000368716:p.Arg16Cys					NAA16_ENST00000403412.3_Missense_Mutation_p.R16C|NAA16_ENST00000379367.3_Missense_Mutation_p.R16C	p.R16C	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			1	370	+			16					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.46C>T	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929088	0.52759	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.46063	0.89;0.88;0.9	4.47	4.47	0.54385	Tetratricopeptide-like helical (1);	0.325530	0.26535	N	0.023836	T	0.45836	0.1362	M	0.79805	2.47	0.58432	D	0.999995	B;B;B	0.18013	0.022;0.006;0.025	B;B;B	0.17979	0.012;0.004;0.02	T	0.52170	-0.8611	10	0.72032	D	0.01	-0.3158	11.3078	0.49345	0.1825:0.8175:0.0:0.0	.	16;16;16	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	C	16	ENSP00000368674:R16C;ENSP00000368716:R16C;ENSP00000386103:R16C	ENSP00000368674:R16C	R	+	1	0	NAA16	40783710	1.000000	0.71417	0.956000	0.39512	0.809000	0.45718	2.631000	0.46502	2.310000	0.77875	0.561000	0.74099	CGC		0.736	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		6	12	0	0	0	1	0	6	12				
PCDHAC2	56134	broad.mit.edu	37	5	140347537	140347537	+	Missense_Mutation	SNP	C	C	A	rs562783714		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140347537C>A	ENST00000289269.5	+	1	1718	c.1186C>A	c.(1186-1188)Ccc>Acc	p.P396T	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	396	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTCAGGCCCCAACCGGAA	0.577																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1186-1188)Ccc>Acc									84.0	77.0	79.0					5																	140347537		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347537C>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1186C>A	5.37:g.140347537C>A	ENSP00000289269:p.Pro396Thr					PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron	p.P396T	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1718	+			396			Cadherin 4.		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.1186C>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	2.192	-0.384987	0.04966	.	.	ENSG00000243232	ENST00000289269	T	0.54479	0.57	5.34	-1.57	0.08506	Cadherin (4);Cadherin-like (1);	1.413400	0.04971	N	0.463837	T	0.32436	0.0829	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.15052	0.009;0.012	T	0.18304	-1.0341	10	0.28530	T	0.3	.	7.451	0.27237	0.0:0.4672:0.1103:0.4225	.	396;396	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	T	396	ENSP00000289269:P396T	ENSP00000289269:P396T	P	+	1	0	PCDHAC2	140327721	0.000000	0.05858	0.364000	0.25888	0.794000	0.44872	-1.396000	0.02513	-0.230000	0.09840	0.655000	0.94253	CCC		0.577	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		14	60	1	0	1.49906e-05	1	1.69153e-05	14	60				
SPAG6	9576	broad.mit.edu	37	10	22680657	22680657	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:22680657G>A	ENST00000376624.3	+	8	1147		c.e8-1		SPAG6_ENST00000376603.2_Splice_Site|SPAG6_ENST00000313311.6_Splice_Site|SPAG6_ENST00000538630.1_Splice_Site|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Splice_Site	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6						cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CCACGCTGCAGGGTGTACCCC	0.468																																						ENST00000376603.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						c.e8-1		sperm associated antigen 6							81.0	79.0	80.0					10																	22680657		2203	4300	6503	SO:0001630	splice_region_variant	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22680657G>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1006-1G>A	10.37:g.22680657G>A						SPAG6_ENST00000313311.6_Splice_Site|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Splice_Site|SPAG6_ENST00000538630.1_Splice_Site|SPAG6_ENST00000376601.1_Splice_Site				O75602	SPAG6_HUMAN			8	1375	+								A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Splice_Site	SNP	ENST00000376624.3	37		CCDS7139.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372438	0.82573	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630;ENST00000456231;ENST00000313311	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.529	0.95219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAG6	22720663	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.302000	0.96175	2.604000	0.88044	0.585000	0.79938	.		0.468	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1		Intron	5	30	0	0	0	1	0	5	30				
PDE8B	8622	broad.mit.edu	37	5	76703236	76703236	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:76703236C>A	ENST00000264917.5	+	13	1364	c.1319C>A	c.(1318-1320)tCc>tAc	p.S440Y	PDE8B_ENST00000342343.4_Missense_Mutation_p.S420Y|PDE8B_ENST00000333194.4_Missense_Mutation_p.S440Y|PDE8B_ENST00000346042.3_Missense_Mutation_p.S343Y|PDE8B_ENST00000340978.3_Missense_Mutation_p.S393Y	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	440					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CGCTATCCGTCCATGGCGAGG	0.602																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1318-1320)tCc>tAc		phosphodiesterase 8B							157.0	103.0	121.0					5																	76703236		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76703236C>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1319C>A	5.37:g.76703236C>A	ENSP00000264917:p.Ser440Tyr					PDE8B_ENST00000342343.4_Missense_Mutation_p.S420Y|PDE8B_ENST00000333194.4_Missense_Mutation_p.S440Y|PDE8B_ENST00000346042.3_Missense_Mutation_p.S343Y|PDE8B_ENST00000340978.3_Missense_Mutation_p.S393Y	p.S440Y	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	13	1364	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	440					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1319C>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798191	0.90538	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.75260	-0.47;-0.92;-0.47;-0.47;-0.89	5.66	5.66	0.87406	.	1.651000	0.02659	N	0.107265	D	0.90191	0.6934	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.997;0.999;0.997;0.993	T	0.77297	-0.2640	10	0.87932	D	0	.	19.7597	0.96309	0.0:1.0:0.0:0.0	.	343;393;440;420;440	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	Y	393;343;440;420;440	ENSP00000345446:S393Y;ENSP00000330428:S343Y;ENSP00000264917:S440Y;ENSP00000345646:S420Y;ENSP00000331336:S440Y	ENSP00000264917:S440Y	S	+	2	0	PDE8B	76738992	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.731000	0.84895	2.680000	0.91292	0.655000	0.94253	TCC		0.602	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		14	86	1	0	5.01169e-05	1	5.57261e-05	14	86				
OR10P1	121130	broad.mit.edu	37	12	56031284	56031284	+	Silent	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:56031284C>A	ENST00000309675.2	+	1	641	c.609C>A	c.(607-609)gcC>gcA	p.A203A	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGATGACAGCCACCATAGTCT	0.567																																						ENST00000309675.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(607-609)gcC>gcA		olfactory receptor, family 10, subfamily P, member 1							125.0	102.0	110.0					12																	56031284		2203	4300	6503	SO:0001819	synonymous_variant	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031284C>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.609C>A	12.37:g.56031284C>A							p.A203A	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	641	+			203					B9EGY4	Silent	SNP	ENST00000309675.2	37	c.609C>A	CCDS31828.1																																																																																				0.567	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			23	85	1	0	2.89027e-11	1	3.90207e-11	23	85				
SCAP	22937	broad.mit.edu	37	3	47476525	47476525	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:47476525T>A	ENST00000265565.5	-	3	637	c.225A>T	c.(223-225)caA>caT	p.Q75H	SCAP_ENST00000441517.2_De_novo_Start_InFrame|SCAP_ENST00000545718.1_De_novo_Start_InFrame	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	75					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TAGGCTCTCCTTGTTTGCGGT	0.597																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(223-225)caA>caT		SREBF chaperone							99.0	96.0	97.0					3																	47476525		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47476525T>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.225A>T	3.37:g.47476525T>A	ENSP00000265565:p.Gln75His					SCAP_ENST00000441517.2_De_novo_Start_InFrame|SCAP_ENST00000545718.1_De_novo_Start_InFrame	p.Q75H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	3	637	-			75					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.225A>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	T	18.00	3.524630	0.64747	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603;ENST00000448217	T	0.79749	-1.3	5.13	-7.7	0.01259	.	0.304911	0.31188	N	0.008081	T	0.61602	0.2360	L	0.44542	1.39	0.23113	N	0.998277	B	0.29270	0.24	B	0.29942	0.109	T	0.50363	-0.8837	10	0.34782	T	0.22	-0.0411	3.1504	0.06485	0.0885:0.2984:0.2858:0.3273	.	75	Q12770	SCAP_HUMAN	H	75	ENSP00000265565:Q75H	ENSP00000265565:Q75H	Q	-	3	2	SCAP	47451529	0.107000	0.21998	0.001000	0.08648	0.323000	0.28346	-0.561000	0.05957	-1.294000	0.02360	-1.601000	0.00813	CAA		0.597	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		25	47	0	0	0	1	0	25	47				
TEX14	56155	broad.mit.edu	37	17	56651595	56651595	+	Silent	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:56651595T>C	ENST00000240361.8	-	23	3559	c.3474A>G	c.(3472-3474)caA>caG	p.Q1158Q	TEX14_ENST00000389934.3_Silent_p.Q1152Q|TEX14_ENST00000349033.5_Silent_p.Q1112Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	1158					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGTCTCTTCTTGTTCATCTT	0.378																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(3454-3456)caA>caG		testis expressed 14							273.0	226.0	242.0					17																	56651595		2203	4300	6503	SO:0001819	synonymous_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56651595T>C	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3474A>G	17.37:g.56651595T>C						TEX14_ENST00000349033.5_Silent_p.Q1112Q|TEX14_ENST00000240361.8_Silent_p.Q1158Q	p.Q1152Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			23	3573	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1158					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	c.3456A>G	CCDS56042.1																																																																																				0.378	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			15	61	0	0	0	1	0	15	61				
PPP4R1	9989	broad.mit.edu	37	18	9549283	9549283	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr18:9549283C>A	ENST00000400556.3	-	19	2674	c.2601G>T	c.(2599-2601)atG>atT	p.M867I	PPP4R1_ENST00000400555.3_Missense_Mutation_p.M850I	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	867					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						GCAGATGCGGCATGAGATGCA	0.478																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(2599-2601)atG>atT		protein phosphatase 4, regulatory subunit 1							151.0	146.0	148.0					18																	9549283		2006	4183	6189	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9549283C>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2601G>T	18.37:g.9549283C>A	ENSP00000383402:p.Met867Ile					PPP4R1_ENST00000400555.3_Missense_Mutation_p.M850I	p.M867I	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			19	2674	-			867					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.2601G>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999236	0.74818	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.28255	1.62;1.62	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.102128	0.64402	D	0.000002	T	0.31420	0.0796	L	0.47716	1.5	0.58432	D	0.999998	B;B;B	0.20887	0.012;0.049;0.024	B;B;B	0.19666	0.005;0.018;0.026	T	0.05115	-1.0905	9	.	.	.	-35.9547	19.7759	0.96393	0.0:1.0:0.0:0.0	.	850;867;850	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	I	867;850	ENSP00000383402:M867I;ENSP00000383401:M850I	.	M	-	3	0	PPP4R1	9539283	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.638000	0.67861	2.738000	0.93877	0.655000	0.94253	ATG		0.478	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		30	104	1	0	1.30897e-18	1	2.06632e-18	30	104				
ADAMTS14	140766	broad.mit.edu	37	10	72492069	72492069	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:72492069G>A	ENST00000373207.1	+	7	1162	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.D391N	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	388	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAACCATGAGGATGGCTTCTC	0.607																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1171-1173)Gat>Aat		ADAM metallopeptidase with thrombospondin type 1 motif, 14							118.0	88.0	98.0					10																	72492069		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72492069G>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1162G>A	10.37:g.72492069G>A	ENSP00000362303:p.Asp388Asn					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.D388N	p.D391N	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			7	1171	+			388			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1171G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785583	0.90282	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.86230	-2.09;-2.09	4.54	4.54	0.55810	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	N	0.21617	0.685	0.53005	D	0.99996	P;P	0.44429	0.571;0.835	P;P	0.46629	0.507;0.522	T	0.78804	-0.2060	10	0.13108	T	0.6	.	17.449	0.87587	0.0:0.0:1.0:0.0	.	388;391	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	N	391;388	ENSP00000362304:D391N;ENSP00000362303:D388N	ENSP00000362303:D388N	D	+	1	0	ADAMTS14	72162075	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.657000	0.98554	2.525000	0.85131	0.655000	0.94253	GAT		0.607	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		16	31	0	0	0	1	0	16	31				
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	RNA	SNP	T	T	C	rs375829895		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:142481888T>C	ENST00000603901.1	+	0	567					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGGGCTTCCTTGAGGGAGGCA	0.522																																						ENST00000603901.1																			0																																																			154754							g.chr7:142481888T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481888T>C								NR_001296.3						0	567	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		5	60	0	0	0	1	0	5	60				
SLC34A3	142680	broad.mit.edu	37	9	140130486	140130486	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:140130486T>A	ENST00000538474.1	+	13	1642	c.1418T>A	c.(1417-1419)cTg>cAg	p.L473Q	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L473Q	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	473					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCCATCCCGCTGGCCAGGCAC	0.692											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1417-1419)cTg>cAg		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							53.0	47.0	49.0					9																	140130486		2201	4293	6494	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140130486T>A	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1418T>A	9.37:g.140130486T>A	ENSP00000442397:p.Leu473Gln		OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1654	SLC34A3_ENST00000361134.2_Missense_Mutation_p.L473Q	p.L473Q	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	13	1642	+	all_cancers(76;0.0926)		473					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1418T>A	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760496	0.49468	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.35973	1.28;1.28	4.13	2.93	0.34026	.	0.325047	0.21352	N	0.075948	T	0.34919	0.0914	M	0.67700	2.07	0.40611	D	0.981676	P	0.37061	0.58	B	0.37550	0.253	T	0.16630	-1.0396	10	0.49607	T	0.09	-3.0171	8.0857	0.30771	0.1811:0.0:0.0:0.8189	.	473	Q8N130	NPT2C_HUMAN	Q	473	ENSP00000442397:L473Q;ENSP00000355353:L473Q	ENSP00000355353:L473Q	L	+	2	0	SLC34A3	139250307	0.995000	0.38212	0.686000	0.30086	0.234000	0.25298	2.437000	0.44828	0.696000	0.31696	0.418000	0.28097	CTG		0.692	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		74	47	0	0	0	1	0	74	47				
ADCYAP1R1	117	broad.mit.edu	37	7	31123813	31123813	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:31123813A>T	ENST00000304166.4	+	7	675	c.386A>T	c.(385-387)cAt>cTt	p.H129L	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.H108L|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.H129L|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.H129L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	129	Important for ligand binding and specificity.				activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CCCTTCCCTCATTACTTTGAT	0.542																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(385-387)cAt>cTt		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							182.0	173.0	176.0					7																	31123813		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31123813A>T		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.386A>T	7.37:g.31123813A>T	ENSP00000306620:p.His129Leu					ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.H129L|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.H129L|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.H108L	p.H129L	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			7	675	+			129			Important for ligand binding and specificity.		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.386A>T	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	A	9.383	1.073628	0.20147	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.64260	0.61;-0.09;0.61;0.61	5.66	5.66	0.87406	GPCR, family 2, extracellular hormone receptor domain (3);	0.055231	0.64402	D	0.000001	T	0.69433	0.3110	L	0.58583	1.82	0.58432	D	0.999997	P;P;P;B;P	0.51933	0.763;0.589;0.949;0.105;0.589	P;P;P;B;P	0.56163	0.589;0.507;0.793;0.066;0.507	T	0.66280	-0.5963	10	0.23891	T	0.37	.	13.8598	0.63552	1.0:0.0:0.0:0.0	.	129;129;129;108;129	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	L	129;108;129;129	ENSP00000306620:H129L;ENSP00000387335:H108L;ENSP00000379514:H129L;ENSP00000386395:H129L	ENSP00000306620:H129L	H	+	2	0	ADCYAP1R1	31090338	1.000000	0.71417	0.831000	0.32960	0.152000	0.21847	5.868000	0.69605	2.144000	0.66660	0.460000	0.39030	CAT		0.542	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		13	75	0	0	0	1	0	13	75				
CETN2	1069	broad.mit.edu	37	X	151997742	151997742	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:151997742G>C	ENST00000370277.3	-	3	308	c.242C>G	c.(241-243)aCa>aGa	p.T81R	NSDHL_ENST00000370274.3_5'Flank|NSDHL_ENST00000440023.1_5'Flank|CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	81	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CATTTTTCCTGTCCCTTCCTT	0.398								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000370277.3																			0				breast(1)|lung(4)|prostate(1)|skin(1)	7						c.(241-243)aCa>aGa	Direct reversal of damage;Nucleotide excision repair (NER)	centrin, EF-hand protein, 2							135.0	123.0	127.0					X																	151997742		2203	4300	6503	SO:0001583	missense	1069				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chrX:151997742G>C	X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"""EF-hand domain containing"""	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.242C>G	X.37:g.151997742G>C	ENSP00000359300:p.Thr81Arg					CETN2_ENST00000493482.1_5'UTR	p.T81R	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN			3	308	-	Acute lymphoblastic leukemia(192;6.56e-05)		81			EF-hand 2.		B2R4T4|Q53XW1	Missense_Mutation	SNP	ENST00000370277.3	37	c.242C>G	CCDS14716.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678188	0.47886	.	.	ENSG00000147400	ENST00000370277	T	0.71341	-0.56	5.43	4.56	0.56223	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	L	0.28649	0.875	0.58432	D	0.999999	B	0.14012	0.009	B	0.21546	0.035	T	0.60110	-0.7327	10	0.66056	D	0.02	.	11.352	0.49594	0.0932:0.0:0.9068:0.0	.	81	P41208	CETN2_HUMAN	R	81	ENSP00000359300:T81R	ENSP00000359300:T81R	T	-	2	0	CETN2	151748398	1.000000	0.71417	0.976000	0.42696	0.966000	0.64601	6.581000	0.74045	2.261000	0.74972	0.600000	0.82982	ACA		0.398	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1	NM_004344		27	79	0	0	0	1	0	27	79				
LRRK2	120892	broad.mit.edu	37	12	40631906	40631906	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:40631906G>T	ENST00000298910.7	+	5	629		c.e5+1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTGAGAGAGGTATTTTAAAA	0.313																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.e5+1		leucine-rich repeat kinase 2							75.0	78.0	77.0					12																	40631906		2203	4300	6503	SO:0001630	splice_region_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40631906G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.571+1G>T	12.37:g.40631906G>T						LRRK2_ENST00000343742.2_Splice_Site		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			5	629	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)						A6NJU2|Q6ZS50|Q8NCX9	Splice_Site	SNP	ENST00000298910.7	37		CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.501815	0.44455	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	.	.	.	5.4	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5132	0.61524	0.079:0.0:0.921:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK2	38918173	1.000000	0.71417	0.996000	0.52242	0.588000	0.36517	5.236000	0.65354	2.542000	0.85734	0.655000	0.94253	.		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Intron	5	40	1	0	1.23904e-05	1	1.40332e-05	5	40				
VWC2	375567	broad.mit.edu	37	7	49842323	49842323	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:49842323G>T	ENST00000340652.4	+	3	1269	c.713G>T	c.(712-714)aGg>aTg	p.R238M		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	238	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CCATGCGAGAGGTGTCGCTGT	0.512																																						ENST00000340652.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(712-714)aGg>aTg		von Willebrand factor C domain containing 2							251.0	198.0	216.0					7																	49842323		2203	4300	6503	SO:0001583	missense	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49842323G>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.713G>T	7.37:g.49842323G>T	ENSP00000341819:p.Arg238Met						p.R238M	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN			3	1269	+			238			VWFC 2.		Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	37	c.713G>T	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665717	0.67700	.	.	ENSG00000188730	ENST00000340652	T	0.71934	-0.61	5.32	4.32	0.51571	von Willebrand factor, type C (4);	0.064983	0.53938	D	0.000041	T	0.71685	0.3369	L	0.58510	1.815	0.30445	N	0.775757	D	0.55800	0.973	P	0.54174	0.744	T	0.71656	-0.4527	10	0.51188	T	0.08	.	6.0334	0.19692	0.3116:0.0:0.6884:0.0	.	238	Q2TAL6	VWC2_HUMAN	M	238	ENSP00000341819:R238M	ENSP00000341819:R238M	R	+	2	0	VWC2	49812869	0.994000	0.37717	0.988000	0.46212	0.984000	0.73092	2.373000	0.44266	2.484000	0.83849	0.650000	0.86243	AGG		0.512	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		36	90	1	0	6.97489e-18	1	1.08789e-17	36	90				
PDZRN4	29951	broad.mit.edu	37	12	41967120	41967120	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:41967120G>C	ENST00000402685.2	+	10	2547	c.2539G>C	c.(2539-2541)Gcc>Ccc	p.A847P	PDZRN4_ENST00000298919.7_Missense_Mutation_p.A587P|PDZRN4_ENST00000539469.2_Missense_Mutation_p.A589P	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	847							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCCAGCACACGCCCGGCATTA	0.483																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1759-1761)Gcc>Ccc		PDZ domain containing ring finger 4							130.0	135.0	133.0					12																	41967120		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967120G>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2539G>C	12.37:g.41967120G>C	ENSP00000384197:p.Ala847Pro					PDZRN4_ENST00000539469.2_Missense_Mutation_p.A589P|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A847P	p.A587P			Q6ZMN7	PZRN4_HUMAN			10	2147	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	847					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1759G>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968479	0.74131	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.48201	0.82;0.82;0.82	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	T	0.70798	0.3265	M	0.76838	2.35	0.80722	D	1	D;B;B	0.89917	1.0;0.359;0.359	D;P;B	0.72982	0.979;0.496;0.362	T	0.74051	-0.3789	10	0.72032	D	0.01	-29.9659	19.3581	0.94422	0.0:0.0:1.0:0.0	.	847;587;589	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	P	847;589;587	ENSP00000384197:A847P;ENSP00000439990:A589P;ENSP00000298919:A587P	ENSP00000298919:A587P	A	+	1	0	PDZRN4	40253387	1.000000	0.71417	0.965000	0.40720	0.901000	0.52897	9.813000	0.99286	2.741000	0.93983	0.650000	0.86243	GCC		0.483	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		39	109	0	0	0	1	0	39	109				
KCNH4	23415	broad.mit.edu	37	17	40315277	40315277	+	Silent	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr17:40315277C>T	ENST00000264661.3	-	14	2885	c.2553G>A	c.(2551-2553)ctG>ctA	p.L851L	KCNH4_ENST00000607371.1_Silent_p.L851L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	851					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGGCCTTGGCAGTTCAGGCC	0.597																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(2551-2553)ctG>ctA		potassium voltage-gated channel, subfamily H (eag-related), member 4							58.0	56.0	56.0					17																	40315277		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40315277C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2553G>A	17.37:g.40315277C>T						KCNH4_ENST00000607371.1_Silent_p.L851L	p.L851L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	2885	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	851						Silent	SNP	ENST00000264661.3	37	c.2553G>A	CCDS11420.1																																																																																				0.597	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		23	51	0	0	0	1	0	23	51				
PSMC2	5701	broad.mit.edu	37	7	103008201	103008201	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:103008201T>A	ENST00000435765.1	+	12	1500	c.1089T>A	c.(1087-1089)agT>agA	p.S363R	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.S226R|PSMC2_ENST00000292644.3_Missense_Mutation_p.S363R	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	363					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GTTCAATGAGTGTTGAAAGAG	0.358																																						ENST00000435765.1																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1087-1089)agT>agA		proteasome (prosome, macropain) 26S subunit, ATPase, 2							102.0	103.0	103.0					7																	103008201		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103008201T>A	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1089T>A	7.37:g.103008201T>A	ENSP00000391211:p.Ser363Arg					SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.S226R|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.S363R	p.S363R	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN			12	1500	+			363					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.1089T>A	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741702	0.69304	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.94793	-3.52;-3.52;-3.52	5.1	2.74	0.32292	.	0.000000	0.85682	D	0.000000	D	0.86760	0.6010	N	0.16903	0.455	0.80722	D	1	P	0.44776	0.843	B	0.37833	0.259	D	0.85266	0.1053	10	0.87932	D	0	-23.873	8.8237	0.35041	0.0:0.1543:0.0:0.8457	.	363	P35998	PRS7_HUMAN	R	363;363;226	ENSP00000391211:S363R;ENSP00000292644:S363R;ENSP00000445546:S226R	ENSP00000292644:S363R	S	+	3	2	PSMC2	102795437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.160000	0.42348	0.781000	0.33589	0.524000	0.50904	AGT		0.358	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		21	76	0	0	0	1	0	21	76				
ACTC1	70	broad.mit.edu	37	15	35086990	35086990	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:35086990G>T	ENST00000290378.4	-	2	675	c.20C>A	c.(19-21)aCc>aAc	p.T7N	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	7					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGGGCGGTGGTCTCCTCGTC	0.677																																						ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(19-21)aCc>aAc		actin, alpha, cardiac muscle 1							76.0	80.0	78.0					15																	35086990		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35086990G>T	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.20C>A	15.37:g.35086990G>T	ENSP00000290378:p.Thr7Asn					RP11-814P5.1_ENST00000503496.1_RNA	p.T7N	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	675	-		all_lung(180;2.3e-08)	7					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.20C>A	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195829	0.58126	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94457	-3.43	4.21	4.21	0.49690	.	0.000000	0.53938	U	0.000052	D	0.87446	0.6179	N	0.04063	-0.285	0.80722	D	1	B	0.14438	0.01	B	0.15484	0.013	D	0.84316	0.0513	10	0.87932	D	0	.	16.9537	0.86252	0.0:0.0:1.0:0.0	.	7	P68032	ACTC_HUMAN	N	7	ENSP00000290378:T7N	ENSP00000290378:T7N	T	-	2	0	ACTC1	32874282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.048000	0.89442	2.064000	0.61679	0.561000	0.74099	ACC		0.677	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		36	139	1	0	2.40579e-17	1	3.73327e-17	36	139				
PAPPA2	60676	broad.mit.edu	37	1	176661388	176661388	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:176661388T>C	ENST00000367662.3	+	6	3722	c.2558T>C	c.(2557-2559)aTc>aCc	p.I853T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	853					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTATGGTCATCGGACAGACC	0.527																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(2557-2559)aTc>aCc		pappalysin 2							152.0	159.0	157.0					1																	176661388		2079	4224	6303	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176661388T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2558T>C	1.37:g.176661388T>C	ENSP00000356634:p.Ile853Thr						p.I853T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			6	3722	+			853					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2558T>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	10.38	1.334043	0.24253	.	.	ENSG00000116183	ENST00000367662	T	0.01725	4.67	5.81	5.81	0.92471	Fibronectin, type III (2);	0.255104	0.42682	D	0.000674	T	0.01592	0.0051	N	0.21448	0.665	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	T	0.60156	-0.7318	10	0.23891	T	0.37	-17.9444	9.0222	0.36206	0.0:0.113:0.0:0.887	.	853	Q9BXP8	PAPP2_HUMAN	T	853	ENSP00000356634:I853T	ENSP00000356634:I853T	I	+	2	0	PAPPA2	174928011	0.801000	0.28930	1.000000	0.80357	0.925000	0.55904	1.483000	0.35497	2.217000	0.71921	0.533000	0.62120	ATC		0.527	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			42	146	0	0	0	1	0	42	146				
ITGBL1	9358	broad.mit.edu	37	13	102250524	102250524	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:102250524G>A	ENST00000376180.3	+	7	1109	c.890G>A	c.(889-891)gGa>gAa	p.G297E	ITGBL1_ENST00000376162.3_Missense_Mutation_p.G204E|ITGBL1_ENST00000545560.2_Missense_Mutation_p.G156E	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	297	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTAATTGCGGAAGATGTGAC	0.448																																						ENST00000376180.3																			0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(889-891)gGa>gAa		integrin, beta-like 1 (with EGF-like repeat domains)							154.0	131.0	139.0					13																	102250524		2203	4300	6503	SO:0001583	missense	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102250524G>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.890G>A	13.37:g.102250524G>A	ENSP00000365351:p.Gly297Glu					ITGBL1_ENST00000545560.2_Missense_Mutation_p.G156E|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G204E	p.G297E	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN			7	1109	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		297			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.890G>A	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397566	0.83120	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.97209	-4.29;-4.29;-4.29	5.42	5.42	0.78866	EGF, extracellular (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.98814	0.9600	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99449	1.0940	10	0.62326	D	0.03	.	19.2134	0.93766	0.0:0.0:1.0:0.0	.	156;297	B3KTP1;O95965	.;ITGBL_HUMAN	E	297;205;156;156;204	ENSP00000365351:G297E;ENSP00000439903:G156E;ENSP00000365332:G204E	ENSP00000365332:G204E	G	+	2	0	ITGBL1	101048525	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	9.357000	0.97099	2.528000	0.85240	0.655000	0.94253	GGA		0.448	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791		7	56	0	0	0	1	0	7	56				
LINC01098	285501	broad.mit.edu	37	4	178897046	178897046	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:178897046G>C	ENST00000507870.1	+	5	711	c.249G>C	c.(247-249)caG>caC	p.Q83H																	lung(8)|prostate(1)	9						ATGTTTTCCAGAGCCTACAGA	0.398																																						ENST00000507870.1																			0				lung(8)|prostate(1)	9						c.(247-249)caG>caC									236.0	237.0	237.0					4																	178897046		1862	4095	5957	SO:0001583	missense	285501							g.chr4:178897046G>C																												ENST00000507870.1:c.249G>C	4.37:g.178897046G>C	ENSP00000421352:p.Gln83His						p.Q83H							5	711	+									Missense_Mutation	SNP	ENST00000507870.1	37	c.249G>C		.	.	.	.	.	.	.	.	.	.	G	9.494	1.101437	0.20632	.	.	ENSG00000231171	ENST00000507870	T	0.37411	1.2	4.08	-2.18	0.07037	.	.	.	.	.	T	0.17746	0.0426	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23940	-1.0174	5	.	.	.	.	0.1512	0.00093	0.2813:0.161:0.2739:0.2838	.	.	.	.	H	83	ENSP00000421352:Q83H	.	Q	+	3	2	RP11-389E17.1	179134040	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.991000	0.03728	-0.541000	0.06257	0.650000	0.86243	CAG		0.398	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1			26	77	0	0	0	1	0	26	77				
TCERG1	10915	broad.mit.edu	37	5	145883507	145883507	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:145883507G>C	ENST00000296702.5	+	18	2706	c.2668G>C	c.(2668-2670)Gag>Cag	p.E890Q	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Missense_Mutation_p.E869Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	890					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATAGATCGAGAGAGAGAGCA	0.418																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(2668-2670)Gag>Cag		transcription elongation regulator 1							105.0	108.0	107.0					5																	145883507		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145883507G>C	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2668G>C	5.37:g.145883507G>C	ENSP00000296702:p.Glu890Gln					TCERG1_ENST00000394421.2_Missense_Mutation_p.E869Q|TCERG1_ENST00000509787.1_3'UTR	p.E890Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	2706	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	890					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.2668G>C	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336234	0.95758	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.27402	1.67;1.68	5.6	5.6	0.85130	FF domain (2);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.979	T	0.46541	-0.9184	10	0.22706	T	0.39	-16.5736	19.9855	0.97347	0.0:0.0:1.0:0.0	.	869;890	O14776-2;O14776	.;TCRG1_HUMAN	Q	890;869	ENSP00000296702:E890Q;ENSP00000377943:E869Q	ENSP00000296702:E890Q	E	+	1	0	TCERG1	145863700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.603000	0.98315	2.806000	0.96561	0.655000	0.94253	GAG		0.418	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		19	38	0	0	0	1	0	19	38				
INPP4B	8821	broad.mit.edu	37	4	143081512	143081512	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:143081512C>T	ENST00000513000.1	-	18	1995	c.1562G>A	c.(1561-1563)tGg>tAg	p.W521*	INPP4B_ENST00000308502.4_Splice_Site_p.W521*|INPP4B_ENST00000262992.4_Splice_Site_p.W521*|INPP4B_ENST00000508116.1_Splice_Site_p.W521*|INPP4B_ENST00000509777.1_Splice_Site_p.W521*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	521					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GAGACTTACCCACTCTTCCTC	0.448																																						ENST00000513000.1																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.e18+1		inositol polyphosphate-4-phosphatase, type II, 105kDa							194.0	164.0	174.0					4																	143081512		2203	4300	6503	SO:0001630	splice_region_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143081512C>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1563+1G>A	4.37:g.143081512C>T						INPP4B_ENST00000508116.1_Splice_Site_p.W521_splice|INPP4B_ENST00000509777.1_Splice_Site_p.W521_splice|INPP4B_ENST00000262992.4_Splice_Site_p.W521_splice|INPP4B_ENST00000308502.4_Splice_Site_p.W521_splice	p.W521_splice	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN			18	1995	-	all_hematologic(180;0.158)		521					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Splice_Site	SNP	ENST00000513000.1	37	c.1563_splice	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	38	7.023386	0.98010	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6053	0.88036	0.0:1.0:0.0:0.0	.	.	.	.	X	521;521;521;392;521;521;336;336;521;392	.	ENSP00000262992:W521X	W	-	2	0	INPP4B	143300962	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.013000	0.70776	2.401000	0.81631	0.650000	0.86243	TGG		0.448	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	Nonsense_Mutation	15	66	0	0	0	1	0	15	66				
DLX5	1749	broad.mit.edu	37	7	96651661	96651661	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:96651661C>G	ENST00000222598.4	-	2	849	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.E126Q	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	126					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					ATTCTCACCTCGGGCTCGGTC	0.448																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(376-378)Gag>Cag		distal-less homeobox 5							116.0	114.0	115.0					7																	96651661		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96651661C>G		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.376G>C	7.37:g.96651661C>G	ENSP00000222598:p.Glu126Gln					DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.E126Q	p.E126Q	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			2	849	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		126					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.376G>C	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063415	0.93898	.	.	ENSG00000105880	ENST00000222598	D	0.89939	-2.59	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	M	0.62723	1.935	0.80722	D	1	P;P	0.48016	0.904;0.6	P;B	0.45099	0.469;0.241	D	0.87434	0.2390	10	0.28530	T	0.3	-11.3143	18.7072	0.91643	0.0:1.0:0.0:0.0	.	126;126	B7Z4P3;P56178	.;DLX5_HUMAN	Q	126	ENSP00000222598:E126Q	ENSP00000222598:E126Q	E	-	1	0	DLX5	96489597	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.582000	0.82546	2.752000	0.94435	0.467000	0.42956	GAG		0.448	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			26	74	0	0	0	1	0	26	74				
BAGE2	85319	broad.mit.edu	37	21	11058283	11058283	+	RNA	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr21:11058283C>A	ENST00000470054.1	-	0	364							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTCTTCACAGCATTTGATAGT	0.403																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							112.0	87.0	95.0					21																	11058283		692	1591	2283			85319							g.chr21:11058283C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058283C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	364	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	155	1	0	5.9392e-07	1	7.08672e-07	4	155				
MATR3	9782	broad.mit.edu	37	5	138657702	138657702	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:138657702A>T	ENST00000394805.3	+	10	2053	c.1718A>T	c.(1717-1719)aAa>aTa	p.K573I	MATR3_ENST00000394800.2_Missense_Mutation_p.K573I|MATR3_ENST00000509990.1_Missense_Mutation_p.K573I|MATR3_ENST00000361059.2_Missense_Mutation_p.K573I|MATR3_ENST00000503811.1_Missense_Mutation_p.K285I|MATR3_ENST00000504203.1_Missense_Mutation_p.K235I|MATR3_ENST00000502499.1_Missense_Mutation_p.K235I|MATR3_ENST00000502929.1_Missense_Mutation_p.K573I|MATR3_ENST00000510056.1_Missense_Mutation_p.K573I	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	573					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGAAATATAAAAAACTGGTT	0.348																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1717-1719)aAa>aTa		matrin 3							135.0	134.0	134.0					5																	138657702		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138657702A>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1718A>T	5.37:g.138657702A>T	ENSP00000378284:p.Lys573Ile					MATR3_ENST00000503811.1_Missense_Mutation_p.K285I|MATR3_ENST00000509990.1_Missense_Mutation_p.K573I|MATR3_ENST00000361059.2_Missense_Mutation_p.K573I|MATR3_ENST00000510056.1_Missense_Mutation_p.K573I|MATR3_ENST00000504203.1_Missense_Mutation_p.K235I|MATR3_ENST00000394805.3_Missense_Mutation_p.K573I|MATR3_ENST00000502929.1_Missense_Mutation_p.K573I|MATR3_ENST00000502499.1_Missense_Mutation_p.K235I	p.K573I			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		14	2267	+			573					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.1718A>T	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.374563|4.374563	0.82573|0.82573	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811|ENST00000515833	T;T;T;T;T;T;T;T;T|.	0.76709|.	-1.03;-1.03;-0.51;-1.03;-1.03;-1.03;-0.51;-1.04;-0.48|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.090948|0.090948	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.54935|.	0.1889|.	L|L	0.29908|0.29908	0.895|0.895	0.49389|0.49389	D|D	0.999784|0.999784	D;D;D;D;D;D|.	0.71674|.	0.998;0.998;0.998;0.998;0.992;0.998|.	D;D;D;D;D;D|.	0.78314|.	0.991;0.987;0.991;0.987;0.964;0.987|.	T|.	0.51996|.	-0.8634|.	10|.	0.62326|.	D|.	0.03|.	-12.8988|-12.8988	15.1926|15.1926	0.73057|0.73057	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	285;573;285;573;573;573|.	B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243|.	.;.;.;.;.;MATR3_HUMAN|.	I|X	573;573;235;573;573;573;235;573;285|333	ENSP00000423533:K573I;ENSP00000354346:K573I;ENSP00000421218:K235I;ENSP00000422319:K573I;ENSP00000378279:K573I;ENSP00000378284:K573I;ENSP00000426030:K235I;ENSP00000426743:K573I;ENSP00000423587:K285I|.	ENSP00000354346:K573I|.	K|K	+|+	2|1	0|0	MATR3|MATR3	138685601|138685601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.650000|4.650000	0.61440|0.61440	2.041000|2.041000	0.60428|0.60428	0.455000|0.455000	0.32223|0.32223	AAA|AAA		0.348	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		19	47	0	0	0	1	0	19	47				
CTPS1	1503	broad.mit.edu	37	1	41471751	41471751	+	Silent	SNP	G	G	C	rs145143197		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:41471751G>C	ENST00000372621.4	+	13	1789	c.1281G>C	c.(1279-1281)acG>acC	p.T427T	CTPS1_ENST00000372616.1_Silent_p.T427T|CTPS1_ENST00000541520.1_Silent_p.T196T	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						TTGACCCTACGACCAGTCATC	0.393																																						ENST00000372621.4																			0				endometrium(3)|lung(10)	13						c.(1279-1281)acG>acC		CTP synthase 1	L-Glutamine(DB00130)						126.0	120.0	122.0					1																	41471751		2203	4300	6503	SO:0001819	synonymous_variant	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41471751G>C	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.1281G>C	1.37:g.41471751G>C						CTPS1_ENST00000372616.1_Silent_p.T427T|CTPS1_ENST00000541520.1_Silent_p.T196T	p.T427T	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN			13	1789	+			427			Glutamine amidotransferase type-1.			Silent	SNP	ENST00000372621.4	37	c.1281G>C	CCDS459.1																																																																																				0.393	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		10	35	0	0	0	1	0	10	35				
NLRP11	204801	broad.mit.edu	37	19	56307532	56307532	+	Silent	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:56307532G>A	ENST00000589093.1	-	6	2349	c.2256C>T	c.(2254-2256)acC>acT	p.T752T	NLRP11_ENST00000443188.1_Silent_p.T752T|NLRP11_ENST00000589824.2_Silent_p.T698T|NLRP11_ENST00000592953.1_Silent_p.T653T|NLRP11_ENST00000360133.3_Silent_p.T698T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	752							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCTGGATAAGGTCAGTTTTC	0.478																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2254-2256)acC>acT		NLR family, pyrin domain containing 11							147.0	133.0	138.0					19																	56307532		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56307532G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2256C>T	19.37:g.56307532G>A						NLRP11_ENST00000592953.1_Silent_p.T653T|NLRP11_ENST00000360133.3_Silent_p.T698T|NLRP11_ENST00000589824.2_Silent_p.T698T|NLRP11_ENST00000589093.1_Silent_p.T752T	p.T752T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	8	2966	-		Colorectal(82;0.0002)	752					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.2256C>T	CCDS12935.1																																																																																				0.478	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		45	117	0	0	0	1	0	45	117				
PREPL	9581	broad.mit.edu	37	2	44586752	44586752	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:44586752C>A	ENST00000409936.1	-	2	540	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	PREPL_ENST00000409272.1_Missense_Mutation_p.D35Y|PREPL_ENST00000378520.3_Missense_Mutation_p.D35Y|PREPL_ENST00000260648.6_Missense_Mutation_p.D35Y|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409957.1_Intron|CAMKMT_ENST00000407131.1_5'Flank|CAMKMT_ENST00000378494.3_5'Flank|PREPL_ENST00000410081.1_Missense_Mutation_p.D35Y|PREPL_ENST00000540817.1_Intron|CAMKMT_ENST00000403853.3_5'Flank|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000378511.3_Missense_Mutation_p.D35Y|CAMKMT_ENST00000402247.1_5'Flank	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	35						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TAACAATGATCAGCGAAGTTA	0.353																																						ENST00000409936.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33						c.(103-105)Gat>Tat		prolyl endopeptidase-like							136.0	135.0	135.0					2																	44586752		2203	4300	6503	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44586752C>A	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.103G>T	2.37:g.44586752C>A	ENSP00000386543:p.Asp35Tyr					PREPL_ENST00000410081.1_Missense_Mutation_p.D35Y|PREPL_ENST00000378520.3_Missense_Mutation_p.D35Y|PREPL_ENST00000409272.1_Missense_Mutation_p.D35Y|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000260648.6_Missense_Mutation_p.D35Y|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000378511.3_Missense_Mutation_p.D35Y|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409957.1_Intron	p.D35Y	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN			2	540	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	35					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.103G>T	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015334	0.75161	.	.	ENSG00000138078	ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511;ENST00000438314	.	.	.	5.27	5.27	0.74061	.	0.524166	0.18908	N	0.127822	T	0.53206	0.1782	N	0.08118	0	0.80722	D	1	P;D;D	0.89917	0.946;1.0;0.986	P;D;P	0.73380	0.808;0.98;0.733	T	0.61317	-0.7087	9	0.72032	D	0.01	-7.9303	14.2767	0.66184	0.0:1.0:0.0:0.0	.	35;35;35	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	Y	35	.	ENSP00000260648:D35Y	D	-	1	0	PREPL	44440256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.897000	0.39799	2.735000	0.93741	0.655000	0.94253	GAT		0.353	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		17	71	1	0	3.41278e-10	1	4.45612e-10	17	71				
ATP5L2	267020	broad.mit.edu	37	22	43035992	43035992	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:43035992C>G	ENST00000505920.1	-	1	615	c.289G>C	c.(289-291)Ggc>Cgc	p.G97R	CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000407623.3_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	97					ATP synthesis coupled proton transport (GO:0015986)	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(1)|kidney(1)	2						CCAATGATGCCACGCTTGCCT	0.428																																						ENST00000505920.1																			0				endometrium(1)|kidney(1)	2						c.(289-291)Ggc>Cgc		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2							115.0	79.0	90.0					22																	43035992		692	1591	2283	SO:0001583	missense	267020				ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr22:43035992C>G	AF092923	CCDS54534.1	22q13.2	2012-10-12	2010-06-11		ENSG00000249222	ENSG00000249222		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	13213	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F1F0, subunit g"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2"""	ATP5K2			Standard	NM_001165877		Approved	dJ222E13.5	uc003bda.1	Q7Z4Y8	OTTHUMG00000150890	ENST00000505920.1:c.289G>C	22.37:g.43035992C>G	ENSP00000421076:p.Gly97Arg					CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000396303.3_Intron	p.G97R	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN			1	615	-			97						Missense_Mutation	SNP	ENST00000505920.1	37	c.289G>C	CCDS54534.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328577	0.60743	.	.	ENSG00000249222	ENST00000505920	.	.	.	2.06	2.06	0.26882	.	.	.	.	.	T	0.74581	0.3735	M	0.84846	2.72	0.58432	D	0.999999	.	.	.	.	.	.	T	0.77907	-0.2412	6	0.62326	D	0.03	.	10.1741	0.42929	0.0:1.0:0.0:0.0	.	.	.	.	R	97	.	ENSP00000421076:G97R	G	-	1	0	ATP5L2	41365936	0.992000	0.36948	0.948000	0.38648	0.975000	0.68041	0.444000	0.21661	1.483000	0.48342	0.514000	0.50259	GGC		0.428	ATP5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320450.2	NM_001165877		11	25	0	0	0	1	0	11	25				
IMPG2	50939	broad.mit.edu	37	3	100949889	100949889	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:100949889G>A	ENST00000193391.7	-	16	3521	c.3334C>T	c.(3334-3336)Ctt>Ttt	p.L1112F		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1112					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ATGACAAGAAGTCCAACCACG	0.493																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(3334-3336)Ctt>Ttt		interphotoreceptor matrix proteoglycan 2							233.0	208.0	216.0					3																	100949889		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100949889G>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3334C>T	3.37:g.100949889G>A	ENSP00000193391:p.Leu1112Phe						p.L1112F	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			16	3521	-			1112					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.3334C>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	2.867	-0.234883	0.05983	.	.	ENSG00000081148	ENST00000193391	T	0.27557	1.66	5.91	1.4	0.22301	.	0.243407	0.35320	N	0.003291	T	0.11239	0.0274	N	0.11724	0.165	0.29926	N	0.822319	B;B	0.14805	0.011;0.011	B;B	0.14023	0.01;0.01	T	0.19549	-1.0302	10	0.08837	T	0.75	-3.8894	2.3261	0.04223	0.3165:0.0:0.2838:0.3998	.	1112;1112	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	F	1112	ENSP00000193391:L1112F	ENSP00000193391:L1112F	L	-	1	0	IMPG2	102432579	0.999000	0.42202	0.787000	0.31911	0.681000	0.39784	3.527000	0.53517	0.355000	0.24131	0.650000	0.86243	CTT		0.493	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			39	114	0	0	0	1	0	39	114				
MYO6	4646	broad.mit.edu	37	6	76551080	76551080	+	Silent	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:76551080A>T	ENST00000369977.3	+	9	940	c.801A>T	c.(799-801)tcA>tcT	p.S267S	MYO6_ENST00000369981.3_Silent_p.S267S|MYO6_ENST00000369985.4_Silent_p.S267S|MYO6_ENST00000369975.1_Silent_p.S267S	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	267	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ATTTGAGTTCACCAGATAATT	0.408																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(799-801)tcA>tcT		myosin VI							72.0	73.0	73.0					6																	76551080		2203	4300	6503	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76551080A>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.801A>T	6.37:g.76551080A>T						MYO6_ENST00000369977.3_Silent_p.S267S|MYO6_ENST00000369985.4_Silent_p.S267S|MYO6_ENST00000369975.1_Silent_p.S267S	p.S267S			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	9	1080	+		all_hematologic(105;0.189)	267			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.801A>T	CCDS34487.1																																																																																				0.408	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		5	34	0	0	0	1	0	5	34				
KCNA1	3736	broad.mit.edu	37	12	5021088	5021088	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:5021088G>C	ENST00000382545.3	+	2	1651	c.544G>C	c.(544-546)Gtc>Ctc	p.V182L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	182					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.V182I(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CATCTCCATCGTCATCTTTTG	0.597																																						ENST00000382545.3																			1	Substitution - Missense(1)	p.V182I(1)	lung(1)	NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(544-546)Gtc>Ctc		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						90.0	85.0	87.0					12																	5021088		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021088G>C	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.544G>C	12.37:g.5021088G>C	ENSP00000371985:p.Val182Leu					KCNA1_ENST00000543874.2_Intron	p.V182L	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN			2	1651	+			182					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.544G>C	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806766	0.50421	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.67698	-0.28	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	M	0.62209	1.925	0.80722	D	1	B	0.21753	0.06	B	0.21151	0.033	T	0.65886	-0.6059	10	0.54805	T	0.06	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	182	Q09470	KCNA1_HUMAN	L	182	ENSP00000371985:V182L	ENSP00000228858:V182L	V	+	1	0	KCNA1	4891349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.739000	0.84976	2.606000	0.88127	0.655000	0.94253	GTC		0.597	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		25	75	0	0	0	1	0	25	75				
SH3PXD2A	9644	broad.mit.edu	37	10	105361946	105361946	+	Missense_Mutation	SNP	C	C	T	rs576268163	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:105361946C>T	ENST00000369774.4	-	15	3305	c.3029G>A	c.(3028-3030)cGa>cAa	p.R1010Q	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R877Q|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R845Q|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R982Q			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1010					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCGGACGCCTCGGAGGCCATC	0.667													C|||	3	0.000599042	0.0	0.0	5008	,	,		17055	0.0		0.0	False		,,,				2504	0.0031					ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(3028-3030)cGa>cAa		SH3 and PX domains 2A							44.0	48.0	47.0					10																	105361946		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105361946C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.3029G>A	10.37:g.105361946C>T	ENSP00000358789:p.Arg1010Gln					SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R877Q|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R845Q|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R982Q	p.R1010Q			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	3305	-		Colorectal(252;0.0815)|Breast(234;0.131)	1010					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.3029G>A		.	.	.	.	.	.	.	.	.	.	C	21.3	4.129021	0.77549	.	.	ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000540321;ENST00000538130	T;T;T;T	0.58652	0.4;0.39;0.54;0.32	5.27	5.27	0.74061	.	0.064337	0.64402	D	0.000004	T	0.71324	0.3326	L	0.56769	1.78	0.53688	D	0.999974	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.77557	0.945;0.978;0.984;0.99	T	0.64922	-0.6293	10	0.13108	T	0.6	-7.5113	18.9012	0.92443	0.0:1.0:0.0:0.0	.	1010;859;855;982	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	SPD2A_HUMAN;.;.;.	Q	1010;982;817;877;845	ENSP00000358789:R1010Q;ENSP00000348215:R982Q;ENSP00000443663:R877Q;ENSP00000441514:R845Q	ENSP00000318135:R817Q	R	-	2	0	SH3PXD2A	105351936	0.898000	0.30612	0.692000	0.30179	0.565000	0.35776	6.089000	0.71384	2.463000	0.83235	0.561000	0.74099	CGA		0.667	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		15	66	0	0	0	1	0	15	66				
ZNF208	7757	broad.mit.edu	37	19	22156106	22156106	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:22156106A>C	ENST00000397126.4	-	4	1878	c.1730T>G	c.(1729-1731)gTa>gGa	p.V577G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V477G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTACAGTATGAAT	0.353																																						ENST00000397126.4																			1	Substitution - Missense(1)	p.V477G(1)	ovary(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1729-1731)gTa>gGa		zinc finger protein 208							27.0	28.0	28.0					19																	22156106		1971	4162	6133	SO:0001583	missense	7757							g.chr19:22156106A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1730T>G	19.37:g.22156106A>C	ENSP00000380315:p.Val577Gly					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.V577G	NM_007153.3	NP_009084.2					4	1878	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1730T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.541960	0.00142	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.13089	2.62	2.8	1.69	0.24217	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	.	.	.	0.34128	D	0.664942	B	0.06786	0.001	B	0.09377	0.004	T	0.45381	-0.9265	8	0.02654	T	1	.	7.3874	0.26891	0.1912:0.6236:0.1852:0.0	.	477	O43345	ZN208_HUMAN	G	577;477	ENSP00000380315:V577G	ENSP00000380315:V577G	V	-	2	0	ZNF208	21947946	0.000000	0.05858	0.011000	0.14972	0.018000	0.09664	-0.039000	0.12124	-0.204000	0.10235	-0.672000	0.03802	GTA		0.353	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	24	0	0	0	1	0	5	24				
OR5V1	81696	broad.mit.edu	37	6	29323353	29323353	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29323353C>T	ENST00000377154.1	-	4	919	c.620G>A	c.(619-621)gGt>gAt	p.G207D	OR5V1_ENST00000543825.1_Missense_Mutation_p.G207D			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGAGTCCAACCAATGAAGAC	0.443																																					Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			0				breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(619-621)gGt>gAt		olfactory receptor, family 5, subfamily V, member 1							98.0	89.0	92.0					6																	29323353		2203	4299	6502	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323353C>T		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.620G>A	6.37:g.29323353C>T	ENSP00000366359:p.Gly207Asp					OR5V1_ENST00000543825.1_Missense_Mutation_p.G207D	p.G207D			Q9UGF6	OR5V1_HUMAN			4	919	-			207					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.620G>A	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	C	8.139	0.784798	0.16189	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.37235	1.21;1.21	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33496	N	0.004844	T	0.48537	0.1505	M	0.86268	2.805	0.09310	N	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.43589	-0.9382	10	0.21014	T	0.42	-33.2963	12.9965	0.58650	0.0:0.8372:0.1628:0.0	.	207	Q9UGF6	OR5V1_HUMAN	D	207	ENSP00000366359:G207D;ENSP00000443309:G207D	ENSP00000366356:G207D	G	-	2	0	OR5V1	29431332	0.000000	0.05858	0.947000	0.38551	0.409000	0.31022	0.088000	0.14979	2.451000	0.82905	0.543000	0.68304	GGT		0.443	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			20	60	0	0	0	1	0	20	60				
KIFC1	3833	broad.mit.edu	37	6	33374378	33374378	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:33374378G>T	ENST00000428849.2	+	9	2287	c.1837G>T	c.(1837-1839)Gtg>Ttg	p.V613L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	613	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GGAGTCCCACGTGCCTTACCG	0.552																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1837-1839)Gtg>Ttg		kinesin family member C1							132.0	121.0	124.0					6																	33374378		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33374378G>T	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1837G>T	6.37:g.33374378G>T	ENSP00000393963:p.Val613Leu						p.V613L	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			9	2287	+			613					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1837G>T	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.009025	0.35415	.	.	ENSG00000237649	ENST00000428849	T	0.79749	-1.3	5.37	4.5	0.54988	Kinesin, motor domain (4);	0.280051	0.34828	N	0.003641	T	0.80675	0.4668	M	0.92649	3.33	0.45946	D	0.998773	P;B	0.36712	0.566;0.423	B;B	0.42188	0.379;0.328	D	0.84237	0.0470	10	0.72032	D	0.01	-0.3148	8.195	0.31392	0.175:0.0:0.825:0.0	.	605;613	B4E063;Q9BW19	.;KIFC1_HUMAN	L	613	ENSP00000393963:V613L	ENSP00000393963:V613L	V	+	1	0	KIFC1	33482356	0.795000	0.28851	0.787000	0.31911	0.045000	0.14185	1.083000	0.30815	1.501000	0.48654	0.651000	0.88453	GTG		0.552	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		15	66	1	0	5.01169e-05	1	5.57261e-05	15	66				
SESN1	27244	broad.mit.edu	37	6	109321818	109321818	+	Missense_Mutation	SNP	T	T	A	rs374094607		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:109321818T>A	ENST00000356644.7	-	4	522	c.428A>T	c.(427-429)cAt>cTt	p.H143L	RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000436639.2_Missense_Mutation_p.H202L|SESN1_ENST00000302071.2_Missense_Mutation_p.H77L	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	143					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CCCACCAACATGAAGGAAATC	0.383																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(604-606)cAt>cTt		sestrin 1							95.0	93.0	94.0					6																	109321818		2203	4300	6503	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109321818T>A	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.428A>T	6.37:g.109321818T>A	ENSP00000349061:p.His143Leu					SESN1_ENST00000356644.7_Missense_Mutation_p.H143L|SESN1_ENST00000302071.2_Missense_Mutation_p.H77L	p.H202L	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	4	1350	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	143					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.605A>T	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.300920	0.40694	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.21191	2.02;2.02;2.02	5.99	5.99	0.97316	.	0.045327	0.85682	D	0.000000	T	0.05410	0.0143	N	0.11284	0.12	0.80722	D	1	P;P	0.38504	0.634;0.491	B;B	0.34536	0.167;0.185	T	0.35025	-0.9805	10	0.21014	T	0.42	-48.7245	16.4943	0.84223	0.0:0.0:0.0:1.0	.	202;143	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	L	202;77;143	ENSP00000393762:H202L;ENSP00000306734:H77L;ENSP00000349061:H143L	ENSP00000306734:H77L	H	-	2	0	SESN1	109428511	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.698000	0.84413	2.291000	0.77112	0.533000	0.62120	CAT		0.383	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		17	41	0	0	0	1	0	17	41				
RGMB	285704	broad.mit.edu	37	5	98129142	98129142	+	Silent	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:98129142G>C	ENST00000513185.1	+	3	1435	c.999G>C	c.(997-999)ctG>ctC	p.L333L	RGMB_ENST00000308234.7_Silent_p.L374L			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	333					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CTGCCATCCTGGGACACAGCC	0.617																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(1120-1122)ctG>ctC		repulsive guidance molecule family member b							44.0	44.0	44.0					5																	98129142		2107	4235	6342	SO:0001819	synonymous_variant	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98129142G>C	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.999G>C	5.37:g.98129142G>C						RGMB_ENST00000513185.1_Silent_p.L333L	p.L374L	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1524	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	333					D6R9A0|Q8NC92	Silent	SNP	ENST00000513185.1	37	c.1122G>C																																																																																					0.617	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		7	12	0	0	0	1	0	7	12				
CDCA8	55143	broad.mit.edu	37	1	38161590	38161590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:38161590G>T	ENST00000373055.1	+	3	505	c.232G>T	c.(232-234)Gga>Tga	p.G78*	CDCA8_ENST00000327331.2_Nonsense_Mutation_p.G78*	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	78	Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCCTTGGAGGAAACAAACA	0.408																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(232-234)Gga>Tga		cell division cycle associated 8							92.0	94.0	93.0					1																	38161590		2203	4300	6503	SO:0001587	stop_gained	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38161590G>T	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.232G>T	1.37:g.38161590G>T	ENSP00000362146:p.Gly78*					CDCA8_ENST00000327331.2_Nonsense_Mutation_p.G78*	p.G78*	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			3	505	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	78			Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Nonsense_Mutation	SNP	ENST00000373055.1	37	c.232G>T	CCDS424.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234874	0.97399	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	.	.	.	5.19	5.19	0.71726	.	0.105878	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-17.6906	14.57	0.68205	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	ENSP00000316121:G78X	G	+	1	0	CDCA8	37934177	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.989000	0.63870	2.591000	0.87537	0.561000	0.74099	GGA		0.408	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		5	30	1	0	0.000602214	1	0.00064528	5	30				
PLXNA1	5361	broad.mit.edu	37	3	126751560	126751560	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:126751560A>G	ENST00000393409.2	+	30	5476	c.5476A>G	c.(5476-5478)Atc>Gtc	p.I1826V	PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.I1803V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1826					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GATGCCAGCCATCAGCGACCA	0.622																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5476-5478)Atc>Gtc		plexin A1							96.0	79.0	85.0					3																	126751560		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126751560A>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5476A>G	3.37:g.126751560A>G	ENSP00000377061:p.Ile1826Val					PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Missense_Mutation_p.I1803V	p.I1826V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	30	5476	+			1826						Missense_Mutation	SNP	ENST00000393409.2	37	c.5476A>G	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	15.11	2.736041	0.49045	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12039	2.72;2.72	3.63	2.41	0.29592	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.153716	0.43579	D	0.000546	T	0.14184	0.0343	L	0.43646	1.37	0.53688	D	0.999978	B;B	0.23854	0.092;0.013	B;B	0.33339	0.162;0.074	T	0.06356	-1.0831	10	0.52906	T	0.07	.	10.0392	0.42146	0.83:0.17:0.0:0.0	.	440;1826	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	V	1826;1803	ENSP00000377061:I1826V;ENSP00000251772:I1803V	ENSP00000251772:I1803V	I	+	1	0	PLXNA1	128234250	1.000000	0.71417	0.986000	0.45419	0.983000	0.72400	8.954000	0.93051	0.530000	0.28619	0.482000	0.46254	ATC		0.622	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		13	69	0	0	0	1	0	13	69				
FLNA	2316	broad.mit.edu	37	X	153588586	153588586	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:153588586G>C	ENST00000369850.3	-	22	3813	c.3577C>G	c.(3577-3579)Ctg>Gtg	p.L1193V	FLNA_ENST00000360319.4_Missense_Mutation_p.L1193V|FLNA_ENST00000422373.1_Missense_Mutation_p.L1193V|FLNA_ENST00000344736.4_Missense_Mutation_p.L1193V|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1193					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAATGGTCAGCTCCGCGCTG	0.657											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(3577-3579)Ctg>Gtg		filamin A, alpha							36.0	43.0	41.0					X																	153588586		2056	4166	6222	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588586G>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3577C>G	X.37:g.153588586G>C	ENSP00000358866:p.Leu1193Val		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000360319.4_Missense_Mutation_p.L1193V|FLNA_ENST00000369850.3_Missense_Mutation_p.L1193V|FLNA_ENST00000344736.4_Missense_Mutation_p.L1193V	p.L1193V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			22	3825	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1193					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3577C>G	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535477	0.45176	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	4.92	3.11	0.35812	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000013	D	0.90287	0.6962	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.977	D	0.88966	0.3397	10	0.87932	D	0	.	9.9245	0.41483	0.1728:0.0:0.8272:0.0	.	1193;1193	P21333-2;P21333	.;FLNA_HUMAN	V	1193;1166;1193;1193;1193	ENSP00000353467:L1193V;ENSP00000416926:L1193V;ENSP00000358866:L1193V;ENSP00000358863:L1193V	ENSP00000358863:L1193V	L	-	1	2	FLNA	153241780	1.000000	0.71417	0.998000	0.56505	0.523000	0.34469	4.085000	0.57657	0.326000	0.23384	0.525000	0.51046	CTG		0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			28	74	0	0	0	1	0	28	74				
OR4K5	79317	broad.mit.edu	37	14	20389118	20389118	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:20389118T>A	ENST00000315915.4	+	1	378	c.353T>A	c.(352-354)aTg>aAg	p.M118K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	118						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(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGTTTCGATGGCCTATGAC	0.453																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(352-354)aTg>aAg		olfactory receptor, family 4, subfamily K, member 5							218.0	221.0	220.0					14																	20389118		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389118T>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.353T>A	14.37:g.20389118T>A	ENSP00000319511:p.Met118Lys						p.M118K	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	378	+	all_cancers(95;0.00108)		118					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.353T>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	17.39	3.376742	0.61735	.	.	ENSG00000176281	ENST00000315915	T	0.01159	5.25	4.41	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.08582	0.0213	H	0.99682	4.7	0.44042	D	0.996777	P	0.45283	0.855	P	0.48738	0.588	T	0.00158	-1.1975	10	0.87932	D	0	.	7.9545	0.30033	0.0:0.1004:0.0:0.8996	.	118	Q8NGD3	OR4K5_HUMAN	K	118	ENSP00000319511:M118K	ENSP00000319511:M118K	M	+	2	0	OR4K5	19458958	1.000000	0.71417	0.962000	0.40283	0.797000	0.45037	7.161000	0.77505	0.726000	0.32339	-0.250000	0.11733	ATG		0.453	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		94	544	0	0	0	1	0	94	544				
CACNG7	59284	broad.mit.edu	37	19	54445349	54445349	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:54445349C>G	ENST00000391767.1	+	6	842	c.630C>G	c.(628-630)taC>taG	p.Y210*	CACNG7_ENST00000222212.2_Nonsense_Mutation_p.Y210*			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	210				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). {ECO:0000305}.	calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AGGAGATGTACCGTCCACACC	0.706																																						ENST00000391767.1																			0				NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(628-630)taC>taG		calcium channel, voltage-dependent, gamma subunit 7							65.0	54.0	58.0					19																	54445349		2203	4300	6503	SO:0001587	stop_gained	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54445349C>G	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.630C>G	19.37:g.54445349C>G	ENSP00000375647:p.Tyr210*					CACNG7_ENST00000222212.2_Nonsense_Mutation_p.Y210*	p.Y210*			P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	6	842	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		210	GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).				Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Nonsense_Mutation	SNP	ENST00000391767.1	37	c.630C>G	CCDS12868.1	.	.	.	.	.	.	.	.	.	.	C	36	5.932134	0.97116	.	.	ENSG00000105605	ENST00000391767;ENST00000222212	.	.	.	4.18	2.03	0.26663	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.9364	7.731	0.28788	0.0:0.7836:0.0:0.2164	.	.	.	.	X	210	.	ENSP00000222212:Y210X	Y	+	3	2	CACNG7	59137161	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	2.810000	0.47979	0.352000	0.24053	0.491000	0.48974	TAC		0.706	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			11	40	0	0	0	1	0	11	40				
PCDHGB3	56102	broad.mit.edu	37	5	140751387	140751387	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr5:140751387G>T	ENST00000576222.1	+	1	1557	c.1426G>T	c.(1426-1428)Gcc>Tcc	p.A476S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	476	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGTCAGAGCCTCGGATCC	0.592																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(1426-1428)Gcc>Tcc									102.0	105.0	104.0					5																	140751387		2087	4228	6315	SO:0001583	missense	56102							g.chr5:140751387G>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1426G>T	5.37:g.140751387G>T	ENSP00000461862:p.Ala476Ser					PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	p.A476S	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1557	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1426G>T	CCDS58980.1																																																																																				0.592	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		32	99	1	0	5.91797e-21	1	9.6075e-21	32	99				
SULF2	55959	broad.mit.edu	37	20	46313262	46313262	+	Silent	SNP	G	G	C	rs114802841		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:46313262G>C	ENST00000359930.4	-	6	1652	c.801C>G	c.(799-801)ccC>ccG	p.P267P	SULF2_ENST00000484875.1_Silent_p.P267P|SULF2_ENST00000361612.4_Silent_p.P267P|SULF2_ENST00000467815.1_Silent_p.P267P|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	267					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGGGCTTCATGGGCCCCGTGT	0.602																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(799-801)ccC>ccG		sulfatase 2							161.0	111.0	128.0					20																	46313262		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46313262G>C	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.801C>G	20.37:g.46313262G>C						SULF2_ENST00000361612.4_Silent_p.P267P|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Silent_p.P267P|SULF2_ENST00000467815.1_Silent_p.P267P	p.P267P	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			6	1652	-			267					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.801C>G	CCDS13408.1																																																																																				0.602	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		9	28	0	0	0	1	0	9	28				
HSPG2	3339	broad.mit.edu	37	1	22182345	22182345	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:22182345G>A	ENST00000374695.3	-	45	5715	c.5636C>T	c.(5635-5637)cCc>cTc	p.P1879L	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1879	Ig-like C2-type 4.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGTTGCCCGGGCTGCACTGT	0.647																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(5635-5637)cCc>cTc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						46.0	47.0	46.0					1																	22182345		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22182345G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5636C>T	1.37:g.22182345G>A	ENSP00000363827:p.Pro1879Leu						p.P1879L	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	45	5715	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1879			Ig-like C2-type 4.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.5636C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	g	17.37	3.372512	0.61624	.	.	ENSG00000142798	ENST00000374695	T	0.14766	2.48	5.07	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39407	N	0.001379	T	0.13586	0.0329	N	0.05050	-0.12	0.48901	D	0.999726	D	0.62365	0.991	P	0.60012	0.867	T	0.27297	-1.0078	10	0.24483	T	0.36	.	12.1089	0.53827	0.0:0.1732:0.8267:0.0	.	1879	P98160	PGBM_HUMAN	L	1879	ENSP00000363827:P1879L	ENSP00000363827:P1879L	P	-	2	0	HSPG2	22054932	0.992000	0.36948	0.953000	0.39169	0.517000	0.34286	2.243000	0.43115	2.534000	0.85438	0.651000	0.88453	CCC		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		10	30	0	0	0	1	0	10	30				
CEACAM8	1088	broad.mit.edu	37	19	43093794	43093794	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:43093794T>C	ENST00000244336.5	-	3	619	c.518A>G	c.(517-519)aAc>aGc	p.N173S	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	173	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GTAGGTTGTGTTCTGAGTCTC	0.567																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(517-519)aAc>aGc		carcinoembryonic antigen-related cell adhesion molecule 8							222.0	193.0	203.0					19																	43093794		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43093794T>C	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.518A>G	19.37:g.43093794T>C	ENSP00000244336:p.Asn173Ser					LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA	p.N173S	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			3	619	-		Prostate(69;0.00899)	173			Ig-like C2-type 1.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.518A>G	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	t	10.62	1.400895	0.25291	.	.	ENSG00000124469	ENST00000244336	T	0.02682	4.2	2.46	2.46	0.29980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03695	0.0105	L	0.42632	1.34	0.09310	N	1	B	0.16396	0.017	B	0.29716	0.106	T	0.38394	-0.9663	9	0.40728	T	0.16	.	6.7189	0.23318	0.0:0.0:0.0:1.0	.	173	P31997	CEAM8_HUMAN	S	173	ENSP00000244336:N173S	ENSP00000244336:N173S	N	-	2	0	CEACAM8	47785634	0.000000	0.05858	0.492000	0.27490	0.694000	0.40290	0.147000	0.16202	1.140000	0.42260	0.260000	0.18958	AAC		0.567	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			52	184	0	0	0	1	0	52	184				
CAB39L	81617	broad.mit.edu	37	13	49924927	49924927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:49924927C>A	ENST00000355854.4	-	5	1014	c.517G>T	c.(517-519)Gag>Tag	p.E173*	CAB39L_ENST00000409308.1_Nonsense_Mutation_p.E173*|CAB39L_ENST00000410043.1_Nonsense_Mutation_p.E173*|CAB39L_ENST00000409130.1_Nonsense_Mutation_p.E29*|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.E173*	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	173					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GTTGACAACTCCACGTACTTA	0.373																																						ENST00000355854.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12						c.(517-519)Gag>Tag		calcium binding protein 39-like							124.0	122.0	123.0					13																	49924927		2203	4300	6503	SO:0001587	stop_gained	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49924927C>A	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.517G>T	13.37:g.49924927C>A	ENSP00000348113:p.Glu173*					CAB39L_ENST00000410043.1_Nonsense_Mutation_p.E173*|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.E173*|CAB39L_ENST00000409130.1_Nonsense_Mutation_p.E29*|CAB39L_ENST00000409308.1_Nonsense_Mutation_p.E173*	p.E173*	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	5	1014	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	173					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Nonsense_Mutation	SNP	ENST00000355854.4	37	c.517G>T	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	C	40	7.954920	0.98580	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000409130;ENST00000425242;ENST00000410043;ENST00000457041	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-26.7702	19.0412	0.93000	0.0:1.0:0.0:0.0	.	.	.	.	X	173;173;170;173;29;136;173;173	.	.	E	-	1	0	CAB39L	48822928	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.747000	0.85070	2.807000	0.96579	0.650000	0.86243	GAG		0.373	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		27	51	1	0	1.74197e-06	1	2.04648e-06	27	51				
ERCC5	2073	broad.mit.edu	37	13	103527879	103527879	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr13:103527879A>T	ENST00000355739.4	+	15	4610	c.3187A>T	c.(3187-3189)Acc>Tcc	p.T1063S	ERCC5_ENST00000472247.1_3'UTR|ERCC5_ENST00000375954.1_Missense_Mutation_p.T296S	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	1063					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CATAACAAATACCTTAGAAGA	0.423			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3187-3189)Acc>Tcc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5							114.0	125.0	121.0					13																	103527879		2203	4300	6503	SO:0001583	missense	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103527879A>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.3187A>T	13.37:g.103527879A>T	ENSP00000347978:p.Thr1063Ser					ERCC5_ENST00000375954.1_Missense_Mutation_p.T296S|ERCC5_ENST00000472247.1_3'UTR	p.T1063S	NM_000123.3	NP_000114.2					15	4610	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.3187A>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917662	0.33815	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.06449	3.61;3.3	4.37	-1.32	0.09201	.	1.627640	0.03231	N	0.178986	T	0.04634	0.0126	L	0.29908	0.895	0.09310	N	1	B	0.23185	0.081	B	0.12156	0.007	T	0.38779	-0.9645	10	0.09590	T	0.72	-1.8511	5.4061	0.16323	0.5319:0.2511:0.217:0.0	.	1063	P28715	ERCC5_HUMAN	S	1488;1063;895;296	ENSP00000347978:T1063S;ENSP00000365121:T296S	ENSP00000347978:T1063S	T	+	1	0	ERCC5	102325880	0.000000	0.05858	0.000000	0.03702	0.348000	0.29142	-0.085000	0.11250	-0.262000	0.09392	0.528000	0.53228	ACC		0.423	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			37	91	0	0	0	1	0	37	91				
TMEM159	57146	broad.mit.edu	37	16	21190859	21190859	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:21190859G>C	ENST00000233047.4	+	5	936	c.468G>C	c.(466-468)gaG>gaC	p.E156D	TMEM159_ENST00000261388.3_Missense_Mutation_p.E156D|TMEM159_ENST00000572599.1_Missense_Mutation_p.E156D|TMEM159_ENST00000451578.2_Missense_Mutation_p.E180D|TMEM159_ENST00000572258.1_3'UTR			Q96B96	TM159_HUMAN	transmembrane protein 159	156						integral component of membrane (GO:0016021)				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CAGAATTCGAGGGGCTTTACC	0.507																																						ENST00000233047.4																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(466-468)gaG>gaC		transmembrane protein 159							96.0	90.0	92.0					16																	21190859		2200	4300	6500	SO:0001583	missense	57146					integral to membrane		g.chr16:21190859G>C	AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.468G>C	16.37:g.21190859G>C	ENSP00000233047:p.Glu156Asp					TMEM159_ENST00000261388.3_Missense_Mutation_p.E156D|TMEM159_ENST00000451578.2_Missense_Mutation_p.E180D|TMEM159_ENST00000572258.1_3'UTR|TMEM159_ENST00000572599.1_Missense_Mutation_p.E156D	p.E156D			Q96B96	TM159_HUMAN		GBM - Glioblastoma multiforme(48;0.0972)	5	936	+			156					A6NMA9|B4DEC1|O00323	Missense_Mutation	SNP	ENST00000233047.4	37	c.468G>C	CCDS10595.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758991	0.31137	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	T;T;T	0.26223	1.78;1.78;1.75	5.09	1.95	0.26073	.	0.520127	0.18219	N	0.147924	T	0.18718	0.0449	L	0.38531	1.155	0.09310	N	1	P;P	0.36535	0.557;0.557	B;B	0.39258	0.295;0.172	T	0.10870	-1.0611	10	0.46703	T	0.11	-12.8408	4.9501	0.14009	0.1816:0.0:0.6501:0.1683	.	180;156	B4DEC1;Q96B96	.;TM159_HUMAN	D	156;156;180	ENSP00000233047:E156D;ENSP00000261388:E156D;ENSP00000409879:E180D	ENSP00000233047:E156D	E	+	3	2	TMEM159	21098360	0.000000	0.05858	0.015000	0.15790	0.079000	0.17450	-0.005000	0.12855	0.347000	0.23924	0.655000	0.94253	GAG		0.507	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1	NM_020422		16	66	0	0	0	1	0	16	66				
DNA2	1763	broad.mit.edu	37	10	70181996	70181996	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:70181996G>A	ENST00000358410.3	-	17	2733	c.2683C>T	c.(2683-2685)Ctt>Ttt	p.L895F	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Missense_Mutation_p.L981F	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	895	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TCTGTATTAAGGAAACAAACA	0.313																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2941-2943)Ctt>Ttt		DNA replication helicase/nuclease 2							52.0	47.0	49.0					10																	70181996		1820	4078	5898	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70181996G>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2683C>T	10.37:g.70181996G>A	ENSP00000351185:p.Leu895Phe					DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Missense_Mutation_p.L895F	p.L981F			P51530	DNA2L_HUMAN			17	2940	-			895					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.2941C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.118974|4.118974	0.77323|0.77323	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000399180;ENST00000358410|ENST00000440722	D;D|.	0.92647|.	-3.08;-3.08|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.68109|0.68109	0.2965|0.2965	L|L	0.45744|0.45744	1.44|1.44	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.65619|0.65619	-0.6124|-0.6124	10|5	0.54805|.	T|.	0.06|.	.|.	18.1412|18.1412	0.89641|0.89641	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	895|.	P51530|.	DNA2L_HUMAN|.	F|L	981;895|216	ENSP00000382133:L981F;ENSP00000351185:L895F|.	ENSP00000351185:L895F|.	L|P	-|-	1|2	0|0	DNA2|DNA2	69852002|69852002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.288000|9.288000	0.96055|0.96055	2.282000|2.282000	0.76494|0.76494	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.313	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			4	8	0	0	0	1	0	4	8				
TUBGCP2	10844	broad.mit.edu	37	10	135094821	135094821	+	Silent	SNP	A	A	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:135094821A>G	ENST00000252936.3	-	16	2568	c.2529T>C	c.(2527-2529)taT>taC	p.Y843Y	TUBGCP2_ENST00000368563.2_Silent_p.Y843Y|TUBGCP2_ENST00000543663.1_Silent_p.Y871Y|TUBGCP2_ENST00000417178.2_Silent_p.Y713Y|TUBGCP2_ENST00000368562.1_Silent_p.Y436Y			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	843					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CACTGGTGCTATAGATGCTCA	0.632																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2527-2529)taT>taC		tubulin, gamma complex associated protein 2							97.0	83.0	88.0					10																	135094821		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135094821A>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2529T>C	10.37:g.135094821A>G						TUBGCP2_ENST00000252936.3_Silent_p.Y843Y|TUBGCP2_ENST00000417178.2_Silent_p.Y713Y|TUBGCP2_ENST00000368562.1_Silent_p.Y436Y|TUBGCP2_ENST00000543663.1_Silent_p.Y871Y	p.Y843Y	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	17	2885	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	843					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.2529T>C	CCDS7676.1																																																																																				0.632	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			10	63	0	0	0	1	0	10	63				
CDK5RAP2	55755	broad.mit.edu	37	9	123210239	123210239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:123210239G>A	ENST00000349780.4	-	22	3138	c.2959C>T	c.(2959-2961)Caa>Taa	p.Q987*	CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q955*|CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q987*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q987*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	987	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATTAACTTTTGGTGAAGTTGC	0.507																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2959-2961)Caa>Taa		CDK5 regulatory subunit associated protein 2							154.0	139.0	144.0					9																	123210239		2203	4300	6503	SO:0001587	stop_gained	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123210239G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2959C>T	9.37:g.123210239G>A	ENSP00000343818:p.Gln987*					CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.Q987*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.Q987*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.Q955*	p.Q987*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			22	3138	-			987			Interaction with MAPRE1.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Nonsense_Mutation	SNP	ENST00000349780.4	37	c.2959C>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831723	0.97003	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	.	.	.	4.94	3.03	0.35002	.	0.844456	0.10065	N	0.720394	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	8.6813	0.34209	0.0:0.1731:0.66:0.1669	.	.	.	.	X	955;987;987;987;381;38;759	.	ENSP00000341695:Q759X	Q	-	1	0	CDK5RAP2	122250060	0.989000	0.36119	0.091000	0.20842	0.941000	0.58515	1.165000	0.31822	0.453000	0.26858	0.467000	0.42956	CAA		0.507	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		79	81	0	0	0	1	0	79	81				
ZMYND12	84217	broad.mit.edu	37	1	42898878	42898879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:42898878_42898879insG	ENST00000372565.3	-	7	1179_1180	c.910_911insC	c.(910-912)caafs	p.Q304fs	ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.Q194fs|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	304						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATGGTTTTTTGGGGGGCTTTG	0.411																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(910-912)aaafs		zinc finger, MYND-type containing 12																																				SO:0001589	frameshift_variant	84217					intracellular	zinc ion binding	g.chr1:42898878_42898879insG	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.911dupC	1.37:g.42898884_42898884dupG	ENSP00000361646:p.Gln304fs					ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs	p.K304fs	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			7	1179_1180	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	304					Q5VUS6|Q8TC87|Q96M51	Frame_Shift_Ins	INS	ENST00000372565.3	37	c.910_911insC	CCDS467.1																																																																																				0.411	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		55	184						55	184	---	---	---	---
CD1A	909	broad.mit.edu	37	1	158225991	158225992	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:158225991_158225992delAC	ENST00000289429.5	+	3	1056_1057	c.523_524delAC	c.(523-525)acafs	p.T175fs		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	175					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AAATGACATAACACACAATCTT	0.48																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(523-525)afs		CD1a molecule	Antithymocyte globulin(DB00098)																																			SO:0001589	frameshift_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158225991_158225992delAC	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.523_524delAC	1.37:g.158225995_158225996delAC	ENSP00000289429:p.Thr175fs						p.T175fs	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			3	1056_1057	+	all_hematologic(112;0.0378)		175					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Frame_Shift_Del	DEL	ENST00000289429.5	37	c.523_524delAC	CCDS1174.1																																																																																				0.480	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		20	85						20	85	---	---	---	---
CD1C	911	broad.mit.edu	37	1	158262662	158262662	+	Frame_Shift_Del	DEL	G	G	-	rs144494205		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:158262662delG	ENST00000368170.3	+	4	1166	c.887delG	c.(886-888)tggfs	p.W296fs		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	296	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATCCTCTACTGGGGTAAGACT	0.522																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(886-888)tgfs		CD1c molecule							60.0	51.0	54.0					1																	158262662		2203	4300	6503	SO:0001589	frameshift_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262662delG	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.887delG	1.37:g.158262662delG	ENSP00000357152:p.Trp296fs						p.W296fs	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			4	1166	+	all_hematologic(112;0.0378)		296			Ig-like.		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Frame_Shift_Del	DEL	ENST00000368170.3	37	c.887delG	CCDS1175.1																																																																																				0.522	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		9	45						9	45	---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160385889	160385889	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:160385889delG	ENST00000368061.2	+	3	583	c.109delG	c.(109-111)gggfs	p.G38fs		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	38					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTCGAGATGGGGGCCGAGG	0.642																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(109-111)ggfs		VANGL planar cell polarity protein 2							40.0	47.0	45.0					1																	160385889		2203	4300	6503	SO:0001589	frameshift_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160385889delG	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.109delG	1.37:g.160385889delG	ENSP00000357040:p.Gly38fs						p.G38fs	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	583	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		38					D3DVE9|Q5T212	Frame_Shift_Del	DEL	ENST00000368061.2	37	c.109delG	CCDS30915.1																																																																																				0.642	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		29	66						29	66	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178427428	178427428	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:178427428delC	ENST00000462775.1	+	12	2703	c.2578delC	c.(2578-2580)ccafs	p.P860fs	RASAL2_ENST00000367649.3_Frame_Shift_Del_p.P1001fs|RASAL2_ENST00000448150.3_Frame_Shift_Del_p.P990fs	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	860					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCTTGCTTTGCCACGACAAAA	0.547																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2968-2970)cafs		RAS protein activator like 2							67.0	66.0	66.0					1																	178427428		2203	4300	6503	SO:0001589	frameshift_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427428delC	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2578delC	1.37:g.178427428delC	ENSP00000420558:p.Pro860fs					RASAL2_ENST00000367649.3_Frame_Shift_Del_p.P1001fs|RASAL2_ENST00000462775.1_Frame_Shift_Del_p.P860fs	p.P990fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			14	3786	+			860					F8W755|O95174|Q2TB22|Q5TFU9	Frame_Shift_Del	DEL	ENST00000462775.1	37	c.2968delC	CCDS1322.1																																																																																				0.547	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		15	52						15	52	---	---	---	---
PTPN7	5778	broad.mit.edu	37	1	202127306	202127306	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr1:202127306delA	ENST00000308986.5	-	3	376	c.246delT	c.(244-246)cttfs	p.L82fs	PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000309017.3_Frame_Shift_Del_p.L187fs|PTPN7_ENST00000367279.4_Frame_Shift_Del_p.L121fs|PTPN7_ENST00000544762.1_5'UTR			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	82					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CCCAGCGGGTAAGGGGGTGTC	0.607																																						ENST00000309017.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(559-561)ctfs		protein tyrosine phosphatase, non-receptor type 7							58.0	59.0	59.0					1																	202127306		2203	4300	6503	SO:0001589	frameshift_variant	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202127306delA	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.246delT	1.37:g.202127306delA	ENSP00000311133:p.Leu82fs					PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000308986.5_Frame_Shift_Del_p.L82fs|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000544762.1_5'UTR|PTPN7_ENST00000367279.4_Frame_Shift_Del_p.L121fs	p.L187fs	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN			3	1334	-			82			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Frame_Shift_Del	DEL	ENST00000308986.5	37	c.561delT																																																																																					0.607	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		9	62						9	62	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		7	181						7	181	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179733867	179733867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr2:179733867delG	ENST00000420890.2	-	15	2488	c.2371delC	c.(2371-2373)cagfs	p.Q791fs	CCDC141_ENST00000295723.5_Frame_Shift_Del_p.Q216fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	791										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGATGGAACTGGACCACCTTG	0.343																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2371-2373)agfs		coiled-coil domain containing 141							184.0	165.0	171.0					2																	179733867		2203	4300	6503	SO:0001589	frameshift_variant	285025						protein binding	g.chr2:179733867delG	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2371delC	2.37:g.179733867delG	ENSP00000395995:p.Gln791fs					CCDC141_ENST00000295723.5_Frame_Shift_Del_p.Q216fs	p.Q791fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		15	2488	-			216					H7C0P1|J3KNW6|Q8N8H3	Frame_Shift_Del	DEL	ENST00000420890.2	37	c.2371delC																																																																																					0.343	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		22	99						22	99	---	---	---	---
ZBTB11	27107	broad.mit.edu	37	3	101383838	101383838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:101383838delC	ENST00000312938.4	-	4	2173	c.1593delG	c.(1591-1593)cggfs	p.R531fs	Y_RNA_ENST00000364251.1_RNA	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAACGGCTTTCCGTTTCTGCA	0.403																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1591-1593)cgfs		zinc finger and BTB domain containing 11							156.0	152.0	153.0					3																	101383838		2203	4300	6503	SO:0001589	frameshift_variant	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101383838delC	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.1593delG	3.37:g.101383838delC	ENSP00000326200:p.Arg531fs						p.R531fs	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	2173	-			531					Q2NKP9	Frame_Shift_Del	DEL	ENST00000312938.4	37	c.1593delG	CCDS2943.1																																																																																				0.403	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		16	94						16	94	---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121340390	121340390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:121340390delC	ENST00000338040.4	+	3	528	c.114delC	c.(112-114)tgcfs	p.C38fs		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	38					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TAATAAGCTGCCACCTGCTCT	0.582																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(112-114)tgfs		F-box protein 40							95.0	85.0	88.0					3																	121340390		2203	4300	6503	SO:0001589	frameshift_variant	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340390delC	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.114delC	3.37:g.121340390delC	ENSP00000337510:p.Cys38fs						p.C38fs	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	528	+			38					B2RAX7|Q32M70|Q9ULM5	Frame_Shift_Del	DEL	ENST00000338040.4	37	c.114delC	CCDS33835.1																																																																																				0.582	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		17	90						17	90	---	---	---	---
P2RY13	53829	broad.mit.edu	37	3	151046592	151046593	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:151046592_151046593insT	ENST00000325602.5	-	2	270_271	c.251_252insA	c.(250-252)aacfs	p.N84fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	84					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CCACCAAAGTGTTTTTGAGGTA	0.485																																						ENST00000325602.5																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(250-252)aacfs		purinergic receptor P2Y, G-protein coupled, 13																																				SO:0001589	frameshift_variant	53829					integral to membrane|plasma membrane		g.chr3:151046592_151046593insT	AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.252dupA	3.37:g.151046597_151046597dupT	ENSP00000320376:p.Asn84fs					MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	p.N84fs	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)		2	270_271	-			84					B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Frame_Shift_Ins	INS	ENST00000325602.5	37	c.251_252insA	CCDS3158.2																																																																																				0.485	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341468.1	NM_023914		48	79						48	79	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155198905	155198905	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr3:155198905delC	ENST00000340059.7	-	23	4933	c.4934delG	c.(4933-4935)ggtfs	p.G1646fs	PLCH1_ENST00000460012.1_Frame_Shift_Del_p.G1608fs|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.G1608fs|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.G1608fs|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1646					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCAAGGCCACCCCCTTTCGT	0.557																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4819-4821)gtfs		phospholipase C, eta 1							57.0	60.0	59.0					3																	155198905		2203	4300	6503	SO:0001589	frameshift_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155198905delC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4934delG	3.37:g.155198905delC	ENSP00000345988:p.Gly1646fs					PLCH1_ENST00000414191.1_Frame_Shift_Del_p.G1608fs|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.G1646fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.G1608fs|PLCH1_ENST00000447496.2_3'UTR	p.G1608fs			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5177	-			1646					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Frame_Shift_Del	DEL	ENST00000340059.7	37	c.4820delG	CCDS46939.1																																																																																				0.557	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		9	53						9	53	---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26417154	26417155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr4:26417154_26417155insG	ENST00000361572.6	+	4	446_447	c.252_253insG	c.(253-255)gaafs	p.E85fs	RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.E85fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.E70fs|RBPJ_ENST00000342320.4_Frame_Shift_Ins_p.E71fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.E50fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.E71fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.E72fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.E71fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	85					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AGAAAAAAAAAGAACAAATGGA	0.381																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(208-213)aaaacafs		recombination signal binding protein for immunoglobulin kappa J region																																				SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26417154_26417155insG	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.253dupG	4.37:g.26417155_26417155dupG	ENSP00000354528:p.Glu85fs					RBPJ_ENST00000342295.1_Frame_Shift_Ins_p.T85fs|RBPJ_ENST00000361572.6_Frame_Shift_Ins_p.T85fs|RBPJ_ENST00000348160.4_Frame_Shift_Ins_p.T72fs|RBPJ_ENST00000355476.3_Frame_Shift_Ins_p.T71fs|RBPJ_ENST00000507561.1_Frame_Shift_Ins_p.T50fs|RBPJ_ENST00000345843.3_Frame_Shift_Ins_p.T70fs|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000504907.1_Frame_Shift_Ins_p.T71fs	p.T71fs			Q06330	SUH_HUMAN			4	386_387	+		Breast(46;0.0503)	85					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Ins	INS	ENST00000361572.6	37	c.210_211insG	CCDS3437.1																																																																																				0.381	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		31	119						31	119	---	---	---	---
OR10C1	442194	broad.mit.edu	37	6	29408263	29408263	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:29408263delC	ENST00000444197.2	+	1	1181	c.471delC	c.(469-471)ggcfs	p.G157fs	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGGGCTGGGCCACACCCCTT	0.617																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(469-471)ggfs		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							101.0	115.0	110.0					6																	29408263		1511	2709	4220	SO:0001589	frameshift_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408263delC		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.471delC	6.37:g.29408263delC	ENSP00000419119:p.Gly157fs					OR11A1_ENST00000377149.1_Intron	p.G157fs	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1181	+			157					Q5SUN7|Q96R18	Frame_Shift_Del	DEL	ENST00000444197.2	37	c.471delC	CCDS34364.1																																																																																				0.617	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			28	115						28	115	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87964977	87964978	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:87964977_87964978delTG	ENST00000369577.3	+	8	1673_1674	c.1630_1631delTG	c.(1630-1632)tgtfs	p.C544fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.C539fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	544						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATGCAGTATTGTGTGTTGTGT	0.391																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1630-1632)tfs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964977_87964978delTG	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1630_1631delTG	6.37:g.87964981_87964982delTG	ENSP00000358590:p.Cys544fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.C539fs	p.C544fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1673_1674	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	544					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.1630_1631delTG	CCDS47457.1																																																																																				0.391	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	35						7	35	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151089835	151089835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr6:151089835delC	ENST00000358517.2	+	3	684	c.473delC	c.(472-474)gccfs	p.A158fs	PLEKHG1_ENST00000367328.1_Frame_Shift_Del_p.A158fs			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	158	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAAAGATCAGCCCTTTTTGGA	0.388																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(472-474)gcfs		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							114.0	105.0	108.0					6																	151089835		2203	4300	6503	SO:0001589	frameshift_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151089835delC	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.473delC	6.37:g.151089835delC	ENSP00000351318:p.Ala158fs					PLEKHG1_ENST00000358517.2_Frame_Shift_Del_p.A158fs	p.A158fs	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	4	785	+			158			DH.		Q5T1F2	Frame_Shift_Del	DEL	ENST00000358517.2	37	c.473delC	CCDS34552.1																																																																																				0.388	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			7	46						7	46	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66479503	66479503	+	Frame_Shift_Del	DEL	G	G	-	rs143691852	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:66479503delG	ENST00000359626.5	+	5	689	c.525delG	c.(523-525)gcgfs	p.A175fs		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	175	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGAGATATGCGGTATTTGGCC	0.423																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(523-525)gcfs		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							212.0	191.0	198.0					7																	66479503		2203	4300	6503	SO:0001589	frameshift_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479503delG	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.525delG	7.37:g.66479503delG	ENSP00000352645:p.Ala175fs						p.A175fs	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	689	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	175			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Frame_Shift_Del	DEL	ENST00000359626.5	37	c.525delG	CCDS5538.1																																																																																				0.423	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		55	167						55	167	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82579063	82579063	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr7:82579063delG	ENST00000333891.9	-	6	11178	c.10841delC	c.(10840-10842)cctfs	p.P3614fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.P3614fs|PCLO_ENST00000437081.1_Frame_Shift_Del_p.P334fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGTGGGGAAGGAGCCAGCTG	0.498																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(10840-10842)ctfs		piccolo presynaptic cytomatrix protein							105.0	106.0	105.0					7																	82579063		2053	4216	6269	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579063delG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10841delC	7.37:g.82579063delG	ENSP00000334319:p.Pro3614fs					PCLO_ENST00000333891.8_Frame_Shift_Del_p.P3614fs|PCLO_ENST00000437081.1_Frame_Shift_Del_p.P334fs	p.P3614fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	11178	-			3545						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.10841delC	CCDS47630.1																																																																																				0.498	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		22	89						22	89	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971063	21971063	+	Frame_Shift_Del	DEL	G	G	-	rs34886500		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:21971063delG	ENST00000304494.5	-	2	565	c.295delC	c.(295-297)cggfs	p.R99fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.P113fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.P113fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.P154fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.R99fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	99			R -> P (in CMM2; loss of CDK4 binding).|R -> Q (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|R -> W (in dbSNP:rs34886500).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.R99W(2)|p.0(1)|p.T93_D105del(1)|p.A68fs*3(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCCCGGCCCGGTGCAGCACC	0.751		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1366	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(3)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.R99W(2)|p.0(1)|p.T93_D105del(1)|p.A68fs*3(1)	haematopoietic_and_lymphoid_tissue(283)|skin(175)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(50)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM045408|CM056555	CDKN2A	M	rs34886500	c.(337-339)cgfs		cyclin-dependent kinase inhibitor 2A							14.0	17.0	16.0					9																	21971063		2183	4256	6439	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971063delG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.295delC	9.37:g.21971063delG	ENSP00000307101:p.Arg99fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.P154fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.P113fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.R48fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R99fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.R48fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.R99fs	p.P113fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	630	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	129					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.338delC	CCDS6510.1																																																																																				0.751	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		37	36						37	36	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79323319	79323319	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr9:79323319delC	ENST00000376718.3	-	8	3994	c.3871delG	c.(3871-3873)gaafs	p.E1291fs	PRUNE2_ENST00000428286.1_Frame_Shift_Del_p.E932fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1291					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGCAGGGTTTCCCTCTCTGTG	0.493																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(2794-2796)aafs		prune homolog 2 (Drosophila)							91.0	84.0	86.0					9																	79323319		1568	3582	5150	SO:0001589	frameshift_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323319delC	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3871delG	9.37:g.79323319delC	ENSP00000365908:p.Glu1291fs					PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.E1291fs	p.E932fs			Q8WUY3	PRUN2_HUMAN			8	3994	-			1291					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Del	DEL	ENST00000376718.3	37	c.2794delG	CCDS47982.1																																																																																				0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		30	39						30	39	---	---	---	---
NHLRC2	374354	broad.mit.edu	37	10	115662245	115662245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:115662245delG	ENST00000369301.3	+	8	1599	c.1387delG	c.(1387-1389)ggtfs	p.G463fs		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	463										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATTTGCTTTTGGTGATGTTGA	0.303																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1387-1389)gtfs		NHL repeat containing 2							77.0	81.0	80.0					10																	115662245		2203	4300	6503	SO:0001589	frameshift_variant	374354				cell redox homeostasis			g.chr10:115662245delG	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1387delG	10.37:g.115662245delG	ENSP00000358307:p.Gly463fs						p.G463fs	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	8	1599	+			463					Q8N1H1|Q8N5A6	Frame_Shift_Del	DEL	ENST00000369301.3	37	c.1387delG	CCDS7585.1																																																																																				0.303	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		22	64						22	64	---	---	---	---
NPS	594857	broad.mit.edu	37	10	129347804	129347805	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr10:129347804_129347805insT	ENST00000398023.1	+	2	80_81	c.60_61insT	c.(61-63)tttfs	p.F21fs		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	21					neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|visual learning (GO:0008542)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CAATGCATGTGTTTTGGTGTTA	0.356																																						ENST00000398023.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						c.(58-63)gttttgfs		neuropeptide S																																				SO:0001589	frameshift_variant	594857				neuropeptide signaling pathway	extracellular region		g.chr10:129347804_129347805insT	BC148465	CCDS41577.1	10q26.2	2013-02-26			ENSG00000214285	ENSG00000214285		"""Endogenous ligands"""	33940	protein-coding gene	gene with protein product	"""prepro-neuropeptide S"""	609513				18181564, 15312648	Standard	NM_001030013		Approved		uc001ljx.1	P0C0P6		ENST00000398023.1:c.64dupT	10.37:g.129347808_129347808dupT	ENSP00000381105:p.Phe21fs						p.L21fs	NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN			2	80_81	+			21						Frame_Shift_Ins	INS	ENST00000398023.1	37	c.60_61insT	CCDS41577.1																																																																																				0.356	NPS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001030013		8	54						8	54	---	---	---	---
TRPM5	29850	broad.mit.edu	37	11	2432736	2432738	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr11:2432736_2432738delGAA	ENST00000155858.6	-	18	2634_2636	c.2626_2628delTTC	c.(2626-2628)ttcdel	p.F876del	TRPM5_ENST00000528453.1_In_Frame_Del_p.F876del|TRPM5_ENST00000533060.1_In_Frame_Del_p.F876del|TRPM5_ENST00000452833.1_In_Frame_Del_p.F878del	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAAAGAAGAGGAAGAAGAAGACG	0.675																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2632-2634)del		transient receptor potential cation channel, subfamily M, member 5																																				SO:0001651	inframe_deletion	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432736_2432738delGAA	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2626_2628delTTC	11.37:g.2432742_2432744delGAA	ENSP00000155858:p.Phe876del					TRPM5_ENST00000533060.1_In_Frame_Del_p.F876del|TRPM5_ENST00000155858.6_In_Frame_Del_p.F876del|TRPM5_ENST00000528453.1_In_Frame_Del_p.F876del	p.F878del			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	18	2640_2642	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	876						In_Frame_Del	DEL	ENST00000155858.6	37	c.2632_2634delTTC	CCDS31340.1																																																																																				0.675	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		19	42						19	42	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30827001	30827001	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:30827001delT	ENST00000256079.4	-	8	1170	c.832delA	c.(832-834)agcfs	p.S278fs	IPO8_ENST00000544829.1_Frame_Shift_Del_p.S73fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	278					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTCCTGGGCTTCCATATCTT	0.303																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(832-834)gcfs		importin 8							37.0	40.0	39.0					12																	30827001		2201	4290	6491	SO:0001589	frameshift_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30827001delT	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.832delA	12.37:g.30827001delT	ENSP00000256079:p.Ser278fs					IPO8_ENST00000544829.1_Frame_Shift_Del_p.S73fs	p.S278fs	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			8	1170	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		278					B7Z7M3	Frame_Shift_Del	DEL	ENST00000256079.4	37	c.832delA	CCDS8719.1																																																																																				0.303	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		13	31						13	31	---	---	---	---
IFNG-AS1	100885789	broad.mit.edu	37	12	68430536	68430536	+	RNA	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:68430536delC	ENST00000536914.1	+	0	336									IFNG antisense RNA 1																		GAAGCTCTGACCCCTATGGTG	0.453																																						ENST00000536914.1																			0																																																			100885789							g.chr12:68430536delC	AK124066, BF510189		12q15	2013-10-07	2012-08-15		ENSG00000255733	ENSG00000255733		"""Long non-coding RNAs"", ""-"""	43910	non-coding RNA	RNA, long non-coding	"""Theiler's murine encephalomyelitis virus persistence candidate gene 1"""		"""IFNG antisense RNA 1 (non-protein coding)"""			11735227, 24056746	Standard	NR_104124		Approved	Tmevpg1, LincR-Ifng-3'AS			OTTHUMG00000169108		12.37:g.68430536delC														0	336	+									RNA	DEL	ENST00000536914.1	37																																																																																						0.453	IFNG-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000402296.1			15	38						15	38	---	---	---	---
MKRN9P	400058	broad.mit.edu	37	12	88177083	88177083	+	RNA	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:88177083delC	ENST00000599191.1	-	0	150							Q6NVV0	MKRN5_HUMAN	makorin ring finger protein 9, pseudogene																		TCAATGAGTTCCCAGAAGTGG	0.498																																						ENST00000599191.1																			0																																																			400058							g.chr12:88177083delC	BC067894		12q21.3	2010-02-04	2010-02-04	2010-02-04		ENSG00000258128		"""RING-type (C3HC4) zinc fingers"""	7116	pseudogene	pseudogene			"""makorin ring finger protein 5"", ""makorin ring finger protein pseudogene 6"""	ZNF127L3, MKRN5, MKRNP6			Standard	NR_033410		Approved	MKRN9, RNF65	uc021rbq.1	Q6NVV0			12.37:g.88177083delC														0	150	-									RNA	DEL	ENST00000599191.1	37																																																																																						0.498	MKRN9P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000463506.1	NG_004764		14	52						14	52	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129566531	129566531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr12:129566531delG	ENST00000422113.2	-	7	2022	c.1696delC	c.(1696-1698)cgcfs	p.R566fs	TMEM132D_ENST00000389441.4_Frame_Shift_Del_p.R104fs	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	566					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTGCAGCCGCGGCCCCTCCGC	0.642																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1696-1698)gcfs		transmembrane protein 132D							47.0	50.0	49.0					12																	129566531		2203	4300	6503	SO:0001589	frameshift_variant	121256					integral to membrane		g.chr12:129566531delG	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1696delC	12.37:g.129566531delG	ENSP00000408581:p.Arg566fs					TMEM132D_ENST00000389441.4_Frame_Shift_Del_p.R104fs	p.R566fs	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	2022	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	566					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Frame_Shift_Del	DEL	ENST00000422113.2	37	c.1696delC	CCDS9266.1																																																																																				0.642	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		34	105						34	105	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24729847	24729847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr14:24729847delC	ENST00000206765.6	-	4	689	c.566delG	c.(565-567)ggcfs	p.G189fs	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	189					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCCTCCACTGCCCCCCTTGCC	0.592																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(565-567)gcfs		transglutaminase 1	L-Glutamine(DB00130)						137.0	118.0	124.0					14																	24729847		2203	4300	6503	SO:0001589	frameshift_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24729847delC	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.566delG	14.37:g.24729847delC	ENSP00000206765:p.Gly189fs					TGM1_ENST00000544573.1_Intron	p.G189fs	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	4	689	-			189					B4DWR7|Q197M4	Frame_Shift_Del	DEL	ENST00000206765.6	37	c.566delG	CCDS9622.1																																																																																				0.592	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		28	155						28	155	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		4	6						4	6	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	6						3	6	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356295	77356296	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr16:77356295_77356296insT	ENST00000282849.5	-	14	2518_2519	c.2100_2101insA	c.(2098-2103)aaagtgfs	p.V701fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	701	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCATCTTTCACTTTGCCGGACA	0.411																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(2098-2103)aatgaafs		ADAM metallopeptidase with thrombospondin type 1 motif, 18																																				SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356295_77356296insT	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2101dupA	16.37:g.77356298_77356298dupT	ENSP00000282849:p.Val701fs						p.NE700fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2518_2519	-			700			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Ins	INS	ENST00000282849.5	37	c.2100_2101insA	CCDS10926.1																																																																																				0.411	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			20	118						20	118	---	---	---	---
LAIR2	3904	broad.mit.edu	37	19	55019138	55019138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr19:55019138delC	ENST00000301202.2	+	3	225	c.103delC	c.(103-105)ccafs	p.P35fs	LAIR2_ENST00000351841.2_Frame_Shift_Del_p.P35fs	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	35	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CTCGGCTGAGCCAGGCACTGT	0.577																																						ENST00000301202.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18						c.(103-105)cafs		leukocyte-associated immunoglobulin-like receptor 2							111.0	124.0	119.0					19																	55019138		2203	4300	6503	SO:0001589	frameshift_variant	3904					extracellular region	receptor activity	g.chr19:55019138delC	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6478	protein-coding gene	gene with protein product		602993	"""leukocyte-associated Ig-like receptor 2"""			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.103delC	19.37:g.55019138delC	ENSP00000301202:p.Pro35fs					LAIR2_ENST00000351841.2_Frame_Shift_Del_p.P35fs	p.P35fs	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	3	225	+	Ovarian(34;0.19)		35			Ig-like C2-type.		Q6PEZ4	Frame_Shift_Del	DEL	ENST00000301202.2	37	c.103delC	CCDS12897.1																																																																																				0.577	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			60	239						60	239	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57766807	57766807	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr20:57766807delC	ENST00000371030.2	+	1	733	c.733delC	c.(733-735)cccfs	p.P245fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	245							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCGGAGAGACCCCTTTCTCC	0.672																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(733-735)ccfs		zinc finger protein 831							34.0	40.0	38.0					20																	57766807		1916	4118	6034	SO:0001589	frameshift_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766807delC	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.733delC	20.37:g.57766807delC	ENSP00000360069:p.Pro245fs						p.P245fs	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	733	+	all_lung(29;0.0085)		245					Q5TDR4|Q8TCP0	Frame_Shift_Del	DEL	ENST00000371030.2	37	c.733delC	CCDS42894.1																																																																																				0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		26	67						26	67	---	---	---	---
BCRP7	100133163	broad.mit.edu	37	22	18843613	18843613	+	Intron	DEL	G	G	-	rs201642685	byFrequency	TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chr22:18843613delG	ENST00000412938.1	+	4	2337																											AGGAGAGGCAGGGGCGGGGGT	0.622													gggg|GGGG|GGG|deletion	680	0.135783	0.2247	0.0994	5008	,	,		26818	0.003		0.1948	False		,,,				2504	0.1176					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	100133163							g.chr22:18843613delG																												ENST00000412938.1:c.2337+182G>-	22.37:g.18843613delG														0	2337	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	3						4	3	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152106684	152106684	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DA-01A-31D-A31L-08	TCGA-BA-A6DA-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df52a9dd-f52b-4b25-bd60-df86a8c27b69	6c96c881-1109-4a2c-a757-57271b0b8531	g.chrX:152106684delG	ENST00000370268.4	+	15	1222	c.1185delG	c.(1183-1185)gagfs	p.E395fs	ZNF185_ENST00000318504.7_Frame_Shift_Del_p.E336fs|ZNF185_ENST00000318529.8_Frame_Shift_Del_p.E174fs|ZNF185_ENST00000535861.1_Frame_Shift_Del_p.E427fs|ZNF185_ENST00000324823.6_Frame_Shift_Del_p.E163fs|ZNF185_ENST00000370270.2_Frame_Shift_Del_p.E427fs|ZNF185_ENST00000539731.1_Frame_Shift_Del_p.E398fs|ZNF185_ENST00000449285.2_Frame_Shift_Del_p.E396fs			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	395						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCAGGAGGATGCAAAGG	0.567																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(1279-1281)gafs		zinc finger protein 185 (LIM domain)							51.0	53.0	53.0					X																	152106684		2098	4182	6280	SO:0001589	frameshift_variant	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152106684delG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1185delG	X.37:g.152106684delG	ENSP00000359291:p.Glu395fs					ZNF185_ENST00000370270.1_Frame_Shift_Del_p.E158fs|ZNF185_ENST00000318504.7_Frame_Shift_Del_p.E336fs|ZNF185_ENST00000370268.4_Frame_Shift_Del_p.E395fs|ZNF185_ENST00000324823.6_Frame_Shift_Del_p.E163fs|ZNF185_ENST00000318529.8_Frame_Shift_Del_p.E174fs|ZNF185_ENST00000449285.2_Frame_Shift_Del_p.E396fs|ZNF185_ENST00000539731.1_Frame_Shift_Del_p.E398fs	p.E427fs	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			16	1329	+	Acute lymphoblastic leukemia(192;6.56e-05)		395					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Frame_Shift_Del	DEL	ENST00000370268.4	37	c.1281delG	CCDS48184.1																																																																																				0.567	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		2	4						2	4	---	---	---	---
