#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
ZNF750	79755	broad.mit.edu	37	17	80790248	80790248	+	Missense_Mutation	SNP	A	A	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:80790248A>T	ENST00000269394.3	-	2	916	c.83T>A	c.(82-84)tTc>tAc	p.F28Y	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	28					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGGACATTGGAAACATTTATA	0.408																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(82-84)tTc>tAc		zinc finger protein 750							98.0	105.0	103.0					17																	80790248		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80790248A>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.83T>A	17.37:g.80790248A>T	ENSP00000269394:p.Phe28Tyr					TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron	p.F28Y	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	916	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	28					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.83T>A	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	A	30	5.052064	0.93793	.	.	ENSG00000141579	ENST00000269394	T	0.55760	0.5	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.72244	0.3436	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73610	-0.3928	9	.	.	.	-35.4974	15.3545	0.74418	1.0:0.0:0.0:0.0	.	28	Q32MQ0	ZN750_HUMAN	Y	28	ENSP00000269394:F28Y	.	F	-	2	0	ZNF750	78383537	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	9.160000	0.94734	2.214000	0.71695	0.533000	0.62120	TTC		0.408	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		47	45	0	0	0	1	0	47	45				
NOX5	79400	broad.mit.edu	37	15	69348931	69348931	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:69348931G>A	ENST00000388866.3	+	16	2234	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	NOX5_ENST00000448182.3_Silent_p.K685K|NOX5_ENST00000260364.5_Silent_p.K713K|NOX5_ENST00000455873.3_Silent_p.K696K|NOX5_ENST00000530406.2_Silent_p.K703K	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	731					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGCTGAGAAGAAGGGCAAGG	0.532																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2137-2139)aaG>aaA		NADPH oxidase, EF-hand calcium binding domain 5							89.0	85.0	87.0					15																	69348931		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69348931G>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2193G>A	15.37:g.69348931G>A						NOX5_ENST00000530406.2_Silent_p.K703K|NOX5_ENST00000448182.3_Silent_p.K685K|NOX5_ENST00000388866.3_Silent_p.K731K|NOX5_ENST00000455873.3_Silent_p.K696K	p.K713K			Q96PH1	NOX5_HUMAN			17	2440	+			731					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.2139G>A	CCDS32276.2																																																																																				0.532	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		25	78	0	0	0	1	0	25	78				
IDE	3416	broad.mit.edu	37	10	94291595	94291595	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:94291595C>T	ENST00000265986.6	-	4	627	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	191					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	ACATTCTTCTCATGTTCTGAA	0.408																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(571-573)Gag>Aag		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						100.0	92.0	95.0					10																	94291595		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94291595C>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.571G>A	10.37:g.94291595C>T	ENSP00000265986:p.Glu191Lys						p.E191K	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			4	627	-			191					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.571G>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780839	0.31502	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.28666	1.6;1.6	5.62	5.62	0.85841	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	N	0.13235	0.315	0.80722	D	1	B	0.32245	0.361	B	0.43301	0.415	T	0.02047	-1.1223	10	0.02654	T	1	-15.2797	19.6584	0.95853	0.0:1.0:0.0:0.0	.	191	P14735	IDE_HUMAN	K	191;177	ENSP00000265986:E191K;ENSP00000408850:E177K	ENSP00000265986:E191K	E	-	1	0	IDE	94281575	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.747000	0.85070	2.646000	0.89796	0.655000	0.94253	GAG		0.408	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		17	51	0	0	0	1	0	17	51				
DDX59	83479	broad.mit.edu	37	1	200635852	200635852	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:200635852G>A	ENST00000331314.6	-	2	230	c.17C>T	c.(16-18)tCt>tTt	p.S6F	RP11-92G12.3_ENST00000568695.1_lincRNA|DDX59_ENST00000367348.3_Missense_Mutation_p.S6F|DDX59_ENST00000447706.2_Missense_Mutation_p.S6F	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	6						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GATTTTTAGAGATCTTGGAAC	0.313																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(16-18)tCt>tTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							115.0	116.0	116.0					1																	200635852		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635852G>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.17C>T	1.37:g.200635852G>A	ENSP00000330460:p.Ser6Phe					DDX59_ENST00000331314.6_Missense_Mutation_p.S6F|DDX59_ENST00000367348.3_Missense_Mutation_p.S6F	p.S6F			Q5T1V6	DDX59_HUMAN			2	168	-			6					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.17C>T	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681854	0.88542	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.57273	1.27;1.29;1.66;0.41	4.87	4.87	0.63330	.	0.135890	0.51477	D	0.000095	T	0.60508	0.2274	L	0.36672	1.1	0.52501	D	0.999952	D;D	0.59357	0.985;0.985	P;P	0.59703	0.862;0.862	T	0.64664	-0.6354	10	0.72032	D	0.01	-11.5411	16.2765	0.82646	0.0:0.0:1.0:0.0	.	6;6	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	F	6	ENSP00000394367:S6F;ENSP00000356317:S6F;ENSP00000330460:S6F;ENSP00000391312:S6F	ENSP00000330460:S6F	S	-	2	0	DDX59	198902475	1.000000	0.71417	0.916000	0.36221	0.912000	0.54170	8.711000	0.91396	2.264000	0.75181	0.555000	0.69702	TCT		0.313	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		39	126	0	0	0	1	0	39	126				
RFX7	64864	broad.mit.edu	37	15	56387309	56387309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56387309C>A	ENST00000559447.2	-	9	2597	c.2326G>T	c.(2326-2328)Gaa>Taa	p.E776*	RFX7_ENST00000422057.1_Nonsense_Mutation_p.E776*|RFX7_ENST00000423270.1_Nonsense_Mutation_p.E873*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.E873*			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	776					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAGTAGCTTTCATTTGTCTGG	0.373																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2617-2619)Gaa>Taa		regulatory factor X, 7							86.0	82.0	83.0					15																	56387309		1891	4119	6010	SO:0001587	stop_gained	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387309C>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2326G>T	15.37:g.56387309C>A	ENSP00000453281:p.Glu776*					RFX7_ENST00000422057.1_Nonsense_Mutation_p.E776*|RFX7_ENST00000559447.2_Nonsense_Mutation_p.E776*|RFX7_ENST00000317318.6_Nonsense_Mutation_p.E873*	p.E873*	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	2616	-			776					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Nonsense_Mutation	SNP	ENST00000559447.2	37	c.2617G>T		.	.	.	.	.	.	.	.	.	.	C	36	5.961014	0.97151	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	.	.	.	5.64	5.64	0.86602	.	0.372936	0.27618	N	0.018575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-10.9343	16.8571	0.86009	0.0:1.0:0.0:0.0	.	.	.	.	X	776;873;873	.	ENSP00000313299:E873X	E	-	1	0	RFX7	54174601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.853000	0.55941	2.637000	0.89404	0.563000	0.77884	GAA		0.373	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		16	49	1	0	1.52009e-12	1	1.60983e-12	16	49				
NSFL1C	55968	broad.mit.edu	37	20	1438876	1438876	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:1438876C>G	ENST00000216879.4	-	3	1114	c.247G>C	c.(247-249)Gat>Cat	p.D83H	NSFL1C_ENST00000353088.2_Missense_Mutation_p.D83H|NSFL1C_ENST00000350991.4_Missense_Mutation_p.D83H|NSFL1C_ENST00000461211.1_5'Flank|NSFL1C_ENST00000381658.4_Missense_Mutation_p.K3N|NSFL1C_ENST00000476071.1_Missense_Mutation_p.D83H	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	83						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCATCTTCATCTTGGTCATGA	0.478																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(247-249)Gat>Cat		NSFL1 (p97) cofactor (p47)							143.0	124.0	130.0					20																	1438876		2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1438876C>G	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.247G>C	20.37:g.1438876C>G	ENSP00000216879:p.Asp83His					NSFL1C_ENST00000476071.1_Missense_Mutation_p.D83H|NSFL1C_ENST00000350991.4_Missense_Mutation_p.D83H|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000353088.2_Missense_Mutation_p.D83H|NSFL1C_ENST00000381658.4_Missense_Mutation_p.K3N	p.D83H	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			3	1114	-			83					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.247G>C	CCDS13015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.98|16.98	3.272013|3.272013	0.59649|0.59649	.|.	.|.	ENSG00000088833|ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000350991|ENST00000381658	T;T;T;T|T	0.53640|0.46063	0.61;0.71;0.62;0.7|0.88	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.169287|.	0.51477|.	D|.	0.000087|.	T|T	0.43277|0.43277	0.1240|0.1240	L|L	0.52905|0.52905	1.665|1.665	0.27456|0.27456	N|N	0.953307|0.953307	P;P|B	0.37955|0.26195	0.514;0.612|0.144	P;B|B	0.44518|0.24848	0.452;0.347|0.056	T|T	0.43114|0.43114	-0.9411|-0.9411	10|9	0.72032|0.87932	D|D	0.01|0	-17.2762|-17.2762	15.9661|15.9661	0.79970|0.79970	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	83;83|3	Q9UNZ2-4;Q9UNZ2|Q9UNZ2-6	.;NSF1C_HUMAN|.	H|N	83|3	ENSP00000338643:D83H;ENSP00000418529:D83H;ENSP00000216879:D83H;ENSP00000202584:D83H|ENSP00000371074:K3N	ENSP00000216879:D83H|ENSP00000371074:K3N	D|K	-|-	1|3	0|2	NSFL1C|NSFL1C	1386876|1386876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.576000|3.576000	0.53878|0.53878	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.478	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		17	101	0	0	0	1	0	17	101				
LNPEP	4012	broad.mit.edu	37	5	96315345	96315345	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:96315345C>G	ENST00000231368.5	+	2	1215	c.523C>G	c.(523-525)Cta>Gta	p.L175V	LNPEP_ENST00000395770.3_Missense_Mutation_p.L161V	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	175					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CGTTGTGCCACTACGCTATGA	0.453																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(523-525)Cta>Gta		leucyl/cystinyl aminopeptidase							105.0	101.0	102.0					5																	96315345		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96315345C>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.523C>G	5.37:g.96315345C>G	ENSP00000231368:p.Leu175Val					LNPEP_ENST00000395770.3_Missense_Mutation_p.L161V	p.L175V	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	2	1215	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	175					O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.523C>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.484530	0.01027	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.02787	4.16;4.16	5.63	0.753	0.18404	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.585977	0.17350	N	0.177421	T	0.01320	0.0043	N	0.16130	0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.48091	-0.9065	10	0.02654	T	1	.	3.4091	0.07352	0.1005:0.3569:0.3429:0.1997	.	175	Q9UIQ6	LCAP_HUMAN	V	175;161	ENSP00000231368:L175V;ENSP00000379117:L161V	ENSP00000231368:L175V	L	+	1	2	LNPEP	96341101	0.006000	0.16342	0.006000	0.13384	0.197000	0.23852	0.088000	0.14979	0.129000	0.18514	0.591000	0.81541	CTA		0.453	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		34	108	0	0	0	1	0	34	108				
ATAD5	79915	broad.mit.edu	37	17	29220658	29220658	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:29220658C>T	ENST00000321990.4	+	21	5165	c.4787C>T	c.(4786-4788)tCa>tTa	p.S1596L		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1596	Poly-Ser.				cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCTCTGTATCATCTTCCTCA	0.368																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4786-4788)tCa>tTa		ATPase family, AAA domain containing 5							45.0	50.0	48.0					17																	29220658		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220658C>T		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4787C>T	17.37:g.29220658C>T	ENSP00000313171:p.Ser1596Leu						p.S1596L	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			21	5165	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1596			Poly-Ser.		Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.4787C>T	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	2.856	-0.237206	0.05944	.	.	ENSG00000176208	ENST00000321990	T	0.06933	3.24	4.26	-1.12	0.09808	.	2.262250	0.02718	U	0.113732	T	0.09512	0.0234	L	0.50333	1.59	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37731	-0.9693	10	0.32370	T	0.25	.	6.6642	0.23031	0.0:0.4213:0.2157:0.3631	.	1596	Q96QE3	ATAD5_HUMAN	L	1596	ENSP00000313171:S1596L	ENSP00000313171:S1596L	S	+	2	0	ATAD5	26244784	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.105000	0.10907	0.001000	0.14605	-1.094000	0.02160	TCA		0.368	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		14	61	0	0	0	1	0	14	61				
OSR1	130497	broad.mit.edu	37	2	19552946	19552946	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:19552946G>A	ENST00000272223.2	-	2	965	c.621C>T	c.(619-621)atC>atT	p.I207I	OSR1_ENST00000536433.1_Silent_p.I207I	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	207					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CTTTGTGGCAGATGTCACAGG	0.592																																						ENST00000536433.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(619-621)atC>atT		odd-skipped related transciption factor 1							98.0	96.0	96.0					2																	19552946		2203	4300	6503	SO:0001819	synonymous_variant	130497				chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding	g.chr2:19552946G>A	BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.621C>T	2.37:g.19552946G>A						OSR1_ENST00000272223.2_Silent_p.I207I	p.I207I			Q8TAX0	OSR1_HUMAN			1	3731	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)	207					B3KV97|D6W521	Silent	SNP	ENST00000272223.2	37	c.621C>T	CCDS1694.1																																																																																				0.592	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	NM_145260		32	46	0	0	0	1	0	32	46				
SNX18	112574	broad.mit.edu	37	5	53839208	53839208	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:53839208C>A	ENST00000381410.4	+	2	2011	c.1821C>A	c.(1819-1821)ttC>ttA	p.F607L	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	460	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TAATATTTTTCCAAAAAGTTA	0.348																																						ENST00000381410.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1819-1821)ttC>ttA		sorting nexin 18							57.0	56.0	56.0					5																	53839208		1822	4080	5902	SO:0001583	missense	112574				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	g.chr5:53839208C>A	AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000381410.4:c.1821C>A	5.37:g.53839208C>A	ENSP00000370817:p.Phe607Leu					SNX18_ENST00000343017.6_3'UTR	p.F607L	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN			2	2011	+		Lung NSC(810;3.46e-05)|Breast(144;0.102)	460			BAR.		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	ENST00000381410.4	37	c.1821C>A	CCDS43317.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861579	0.71949	.	.	ENSG00000178996	ENST00000381410	T	0.15718	2.4	5.71	5.71	0.89125	.	.	.	.	.	T	0.25606	0.0623	.	.	.	0.80722	D	1	P	0.44734	0.842	P	0.47645	0.553	T	0.00657	-1.1623	8	0.87932	D	0	.	11.7821	0.52021	0.0:0.913:0.0:0.087	.	607	Q96RF0-2	.	L	607	ENSP00000370817:F607L	ENSP00000370817:F607L	F	+	3	2	SNX18	53874965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.819000	0.55686	2.684000	0.91462	0.650000	0.86243	TTC		0.348	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214073.2			22	86	1	0	6.44725e-10	1	6.73857e-10	22	86				
PRB4	5545	broad.mit.edu	37	12	11461589	11461589	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:11461589A>G	ENST00000535904.1	-	3	361	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PRB4_ENST00000279575.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	131	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTACCTTGGGACTGGTTTCCT	0.602										HNSCC(22;0.051)																												ENST00000279575.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						c.(328-330)Tcc>Ccc		proline-rich protein BstNI subfamily 4							166.0	175.0	172.0					12																	11461589		2202	4300	6502	SO:0001583	missense	5545					extracellular region		g.chr12:11461589A>G		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.328T>C	12.37:g.11461589A>G	ENSP00000442834:p.Ser110Pro	HNSCC(22;0.051)				PRB4_ENST00000535904.1_Missense_Mutation_p.S110P|PRB4_ENST00000445719.2_Missense_Mutation_p.S110P	p.S110P	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN			3	361	-			152			9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	ENST00000535904.1	37	c.328T>C	CCDS8641.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.945176	0.00479	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04706	3.57;3.57;3.57	0.678	-1.36	0.09085	.	.	.	.	.	T	0.02380	0.0073	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	8	0.32370	T	0.25	.	.	.	.	.	110	E9PAL0	.	P	110	ENSP00000279575:S110P;ENSP00000442834:S110P;ENSP00000412740:S110P	ENSP00000279575:S110P	S	-	1	0	PRB4	11352856	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.351000	0.02622	-3.181000	0.00222	-3.255000	0.00050	TCC		0.602	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		6	395	0	0	0	1	0	6	395				
GPR148	344561	broad.mit.edu	37	2	131487611	131487611	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:131487611C>G	ENST00000309926.4	+	1	969	c.887C>G	c.(886-888)aCt>aGt	p.T296S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GACTCTGGGACTCACACATGG	0.567																																						ENST00000309926.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27						c.(886-888)aCt>aGt		G protein-coupled receptor 148							157.0	120.0	133.0					2																	131487611		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131487611C>G	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.887C>G	2.37:g.131487611C>G	ENSP00000308908:p.Thr296Ser						p.T296S	NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN			1	969	+	Colorectal(110;0.1)		296					Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.887C>G	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	0.941	-0.709674	0.03230	.	.	ENSG00000173302	ENST00000309926	T	0.36340	1.26	3.17	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.976771	0.08314	U	0.964842	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B	0.30634	0.288	B	0.25884	0.064	T	0.13308	-1.0514	10	0.07482	T	0.82	-3.8423	7.5466	0.27770	0.0:0.8627:0.0:0.1373	.	296	Q8TDV2	GP148_HUMAN	S	296	ENSP00000308908:T296S	ENSP00000308908:T296S	T	+	2	0	GPR148	131204081	0.000000	0.05858	0.002000	0.10522	0.244000	0.25665	0.567000	0.23608	1.506000	0.48736	0.462000	0.41574	ACT		0.567	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		12	47	0	0	0	1	0	12	47				
WDR70	55100	broad.mit.edu	37	5	37379491	37379491	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:37379491G>A	ENST00000265107.4	+	1	178	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	WDR70_ENST00000504564.1_Missense_Mutation_p.E8K	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	8							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGCCCAGCGAAGGTGGGTT	0.642																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(22-24)Gaa>Aaa		WD repeat domain 70							68.0	82.0	77.0					5																	37379491		2202	4300	6502	SO:0001583	missense	55100							g.chr5:37379491G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.22G>A	5.37:g.37379491G>A	ENSP00000265107:p.Glu8Lys					WDR70_ENST00000504564.1_Missense_Mutation_p.E8K	p.E8K	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	178	+	all_lung(31;0.000285)		8					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.22G>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259275	0.39995	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.86030	-0.22;-2.06	4.07	4.07	0.47477	.	0.899143	0.09214	U	0.832803	T	0.74589	0.3736	N	0.22421	0.69	0.37157	D	0.902421	B;B	0.27068	0.167;0.001	B;B	0.15052	0.012;0.0	T	0.72567	-0.4254	10	0.52906	T	0.07	-5.0159	7.8749	0.29589	0.113:0.0:0.887:0.0	.	8;8	D6RIW8;Q9NW82	.;WDR70_HUMAN	K	8	ENSP00000265107:E8K;ENSP00000425841:E8K	ENSP00000265107:E8K	E	+	1	0	WDR70	37415248	0.998000	0.40836	1.000000	0.80357	0.504000	0.33889	1.983000	0.40648	2.273000	0.75805	0.557000	0.71058	GAA		0.642	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		40	129	0	0	0	1	0	40	129				
ZNF639	51193	broad.mit.edu	37	3	179050801	179050801	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:179050801C>G	ENST00000326361.3	+	6	639	c.194C>G	c.(193-195)tCa>tGa	p.S65*	ZNF639_ENST00000496856.1_Nonsense_Mutation_p.S65*|ZNF639_ENST00000484866.1_Nonsense_Mutation_p.S65*|ZNF639_ENST00000466663.1_3'UTR	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	65					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			accgagacgtcaaatgacttg	0.358																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(193-195)tCa>tGa		zinc finger protein 639							63.0	57.0	59.0					3																	179050801		2122	4140	6262	SO:0001587	stop_gained	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179050801C>G	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.194C>G	3.37:g.179050801C>G	ENSP00000325634:p.Ser65*					ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Nonsense_Mutation_p.S65*|ZNF639_ENST00000484866.1_Nonsense_Mutation_p.S65*	p.S65*	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	639	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		65					A9X3Z9|D3DNR3	Nonsense_Mutation	SNP	ENST00000326361.3	37	c.194C>G	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	37	6.042689	0.97231	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000481587;ENST00000326361;ENST00000466264;ENST00000484866;ENST00000494234	.	.	.	5.86	5.86	0.93980	.	1.066270	0.07368	N	0.885270	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	16.0536	0.80779	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000325634:S65X	S	+	2	0	ZNF639	180533495	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	3.230000	0.51286	2.937000	0.99478	0.650000	0.86243	TCA		0.358	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		4	7	0	0	0	1	0	4	7				
MTOR	2475	broad.mit.edu	37	1	11288856	11288856	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:11288856G>A	ENST00000361445.4	-	19	2975	c.2899C>T	c.(2899-2901)Cat>Tat	p.H967Y	RNU6-291P_ENST00000384720.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	967					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATGGTGTGATGATGAGAGAGT	0.532																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(2899-2901)Cat>Tat		mechanistic target of rapamycin (serine/threonine kinase)							170.0	132.0	145.0					1																	11288856		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11288856G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2899C>T	1.37:g.11288856G>A	ENSP00000354558:p.His967Tyr						p.H967Y	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			19	2975	-			967					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2899C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564039	0.86335	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.64991	-0.13	5.49	5.49	0.81192	Domain of unknown function DUF3385,  target of rapamycin protein (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	L	0.45285	1.41	0.80722	D	1	D	0.63046	0.992	D	0.64042	0.921	T	0.64580	-0.6374	10	0.20046	T	0.44	-18.6459	19.3531	0.94398	0.0:0.0:1.0:0.0	.	967	P42345	MTOR_HUMAN	Y	967	ENSP00000354558:H967Y	ENSP00000354558:H967Y	H	-	1	0	MTOR	11211443	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.167000	0.94773	2.584000	0.87258	0.591000	0.81541	CAT		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		24	47	0	0	0	1	0	24	47				
MACF1	23499	broad.mit.edu	37	1	39800377	39800377	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:39800377C>T	ENST00000372915.3	+	36	8219	c.8132C>T	c.(8131-8133)tCa>tTa	p.S2711L	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2743L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1146L|MACF1_ENST00000564288.1_Missense_Mutation_p.S2706L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2711					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACATTGGCATCAGCTTTGGAA	0.403																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(8116-8118)tCa>tTa		microtubule-actin crosslinking factor 1							52.0	53.0	53.0					1																	39800377		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800377C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8132C>T	1.37:g.39800377C>T	ENSP00000362006:p.Ser2711Leu					MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2743L|MACF1_ENST00000372915.3_Missense_Mutation_p.S2711L|MACF1_ENST00000289893.4_Missense_Mutation_p.S1146L|MACF1_ENST00000545844.1_Intron	p.S2706L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	8894	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2711					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8117C>T		.	.	.	.	.	.	.	.	.	.	C	12.23	1.876258	0.33162	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.72942	-0.7;-0.7	4.98	4.07	0.47477	.	1.075190	0.07277	N	0.870227	T	0.64962	0.2646	L	0.40543	1.245	0.80722	D	1	P	0.52842	0.956	B	0.44224	0.444	T	0.60167	-0.7316	10	0.62326	D	0.03	.	7.3942	0.26927	0.2814:0.6405:0.0:0.0781	.	2711	Q9UPN3	MACF1_HUMAN	L	2711;1146	ENSP00000362006:S2711L;ENSP00000289893:S1146L	ENSP00000289893:S1146L	S	+	2	0	MACF1	39572964	0.997000	0.39634	1.000000	0.80357	0.903000	0.53119	1.890000	0.39728	1.340000	0.45581	0.491000	0.48974	TCA		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		23	46	0	0	0	1	0	23	46				
UGT2B10	7365	broad.mit.edu	37	4	69683801	69683801	+	Missense_Mutation	SNP	G	G	A	rs201500332		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:69683801G>A	ENST00000265403.7	+	2	800	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R174Q	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	258					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGGCTTATGCGAAACTCCTGG	0.383													g|||	1	0.000199681	0.0	0.0	5008	,	,		16205	0.001		0.0	False		,,,				2504	0.0				Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(772-774)cGa>cAa		UDP glucuronosyltransferase 2 family, polypeptide B10		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	134.0	139.0	138.0		773,521	2.7	0.0	4		138	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	UGT2B10	NM_001075.4,NM_001144767.1	43,43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	258/529,174/445	69683801	1,13003	2203	4299	6502	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69683801G>A	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.773G>A	4.37:g.69683801G>A	ENSP00000265403:p.Arg258Gln					UGT2B10_ENST00000458688.2_Missense_Mutation_p.R174Q	p.R258Q	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			2	800	+			258					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.773G>A		.	.	.	.	.	.	.	.	.	.	g	13.87	2.366662	0.41902	0.0	1.16E-4	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.62105	0.05;3.25	2.66	2.66	0.31614	.	0.000000	0.64402	U	0.000005	T	0.73321	0.3572	M	0.77406	2.37	0.26879	N	0.967583	D;D	0.65815	0.995;0.987	P;P	0.60012	0.867;0.668	T	0.65676	-0.6110	10	0.59425	D	0.04	.	10.7681	0.46305	0.0:0.0:1.0:0.0	.	174;258	B4DPP1;P36537	.;UDB10_HUMAN	Q	258;174	ENSP00000265403:R258Q;ENSP00000413420:R174Q	ENSP00000265403:R258Q	R	+	2	0	UGT2B10	69718390	1.000000	0.71417	0.004000	0.12327	0.012000	0.07955	6.557000	0.73937	1.317000	0.45149	0.184000	0.17185	CGA		0.383	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		52	203	0	0	0	1	0	52	203				
CENPB	1059	broad.mit.edu	37	20	3766589	3766589	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3766589G>A	ENST00000379751.4	-	1	748	c.542C>T	c.(541-543)tCg>tTg	p.S181L	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	181					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CTCGGCCACCGACGGCGGCTG	0.746																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(541-543)tCg>tTg		centromere protein B, 80kDa							15.0	16.0	15.0					20																	3766589		1892	3673	5565	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766589G>A	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.542C>T	20.37:g.3766589G>A	ENSP00000369075:p.Ser181Leu						p.S181L	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	748	-			181					Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.542C>T	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	g	13.35	2.210424	0.39003	.	.	ENSG00000125817	ENST00000379751	T	0.18174	2.23	3.73	3.73	0.42828	.	0.284988	0.18726	U	0.132889	T	0.09202	0.0227	N	0.24115	0.695	0.31853	N	0.621974	B	0.34181	0.44	B	0.20767	0.031	T	0.09997	-1.0649	10	0.11485	T	0.65	-5.1201	13.0083	0.58718	0.0:0.0:1.0:0.0	.	181	P07199	CENPB_HUMAN	L	181	ENSP00000369075:S181L	ENSP00000369075:S181L	S	-	2	0	CENPB	3714589	0.697000	0.27767	1.000000	0.80357	0.908000	0.53690	2.963000	0.49184	1.627000	0.50400	0.306000	0.20318	TCG		0.746	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		5	36	0	0	0	1	0	5	36				
GRIP1	23426	broad.mit.edu	37	12	66856789	66856789	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:66856789C>A	ENST00000398016.3	-	9	1025	c.957G>T	c.(955-957)caG>caT	p.Q319H	GRIP1_ENST00000286445.7_Missense_Mutation_p.Q319H|GRIP1_ENST00000359742.4_Missense_Mutation_p.Q319H	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGCCAGGAACTGGGTTGCTT	0.552																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(955-957)caG>caT		glutamate receptor interacting protein 1							149.0	147.0	147.0					12																	66856789		2028	4201	6229	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66856789C>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.957G>T	12.37:g.66856789C>A	ENSP00000381098:p.Gln319His					GRIP1_ENST00000398016.3_Missense_Mutation_p.Q319H|GRIP1_ENST00000286445.7_Missense_Mutation_p.Q319H	p.Q319H			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	9	1197	-			319			PDZ 3.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.957G>T	CCDS41807.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.22|13.22|13.22	2.172598|2.172598|2.172598	0.38413|0.38413|0.38413	.|.|.	.|.|.	ENSG00000155974|ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164|ENST00000543172	T;T;T;T;T;T|.|.	0.30182|.|.	1.54;1.54;1.54;1.54;1.54;1.54|.|.	5.23|5.23|5.23	3.41|3.41|3.41	0.39046|0.39046|0.39046	PDZ/DHR/GLGF (4);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.62478|0.62478|0.62478	0.2431|0.2431|0.2431	M|M|M	0.63843|0.63843|0.63843	1.955|1.955|1.955	0.53688|0.53688|0.53688	D|D|D	0.999979|0.999979|0.999979	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;0.997;1.0|.|.	D;D;D;D|.|.	0.91635|.|.	0.976;0.995;0.967;0.999|.|.	T|T|T	0.59204|0.59204|0.59204	-0.7498|-0.7498|-0.7498	9|5|5	.|.|.	.|.|.	.|.|.	-13.5992|-13.5992|-13.5992	9.827|9.827|9.827	0.40919|0.40919|0.40919	0.0:0.7847:0.0:0.2153|0.0:0.7847:0.0:0.2153|0.0:0.7847:0.0:0.2153	.|.|.	319;319;319;319|.|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.|.	.;GRIP1_HUMAN;.;.|.|.	H|I|F	319;319;319;319;263;263|134|140	ENSP00000381098:Q319H;ENSP00000352780:Q319H;ENSP00000286445:Q319H;ENSP00000446047:Q319H;ENSP00000446024:Q263H;ENSP00000446011:Q263H|.|.	.|.|.	Q|S|V	-|-|-	3|2|1	2|0|0	GRIP1|GRIP1|GRIP1	65143056|65143056|65143056	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.007000|0.007000|0.007000	0.05969|0.05969|0.05969	2.178000|2.178000|2.178000	0.42519|0.42519|0.42519	0.867000|0.867000|0.867000	0.35654|0.35654|0.35654	-0.136000|-0.136000|-0.136000	0.14681|0.14681|0.14681	CAG|AGT|GTT		0.552	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			6	25	1	0	1	1	1	6	25				
SART3	9733	broad.mit.edu	37	12	108924012	108924012	+	Missense_Mutation	SNP	T	T	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:108924012T>G	ENST00000228284.3	-	15	2056	c.1822A>C	c.(1822-1824)Aag>Cag	p.K608Q	SART3_ENST00000431469.2_Missense_Mutation_p.K572Q	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	608	Required for nuclear localization.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AACGCTTTCTTCTCAGCCCGA	0.478									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(1822-1824)Aag>Cag		squamous cell carcinoma antigen recognized by T cells 3							130.0	119.0	122.0					12																	108924012		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108924012T>G	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1822A>C	12.37:g.108924012T>G	ENSP00000228284:p.Lys608Gln					SART3_ENST00000431469.2_Missense_Mutation_p.K572Q	p.K608Q	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			15	2056	-			608			Required for nuclear localization.		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.1822A>C	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044033	0.75732	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000412617;ENST00000546815	T;T;T	0.58060	2.32;2.26;0.36	6.03	6.03	0.97812	.	0.046654	0.85682	D	0.000000	T	0.58892	0.2154	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.969;0.986	D;D;P;P	0.85130	0.997;0.954;0.787;0.776	T	0.55509	-0.8130	10	0.23302	T	0.38	-34.7743	15.7467	0.77949	0.0:0.0:0.0:1.0	.	556;626;572;608	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	Q	608;572;184;556;626	ENSP00000228284:K608Q;ENSP00000414453:K572Q;ENSP00000449386:K626Q	ENSP00000228284:K608Q	K	-	1	0	SART3	107448142	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	6.629000	0.74267	2.302000	0.77476	0.533000	0.62120	AAG		0.478	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			31	125	0	0	0	1	0	31	125				
ILDR1	286676	broad.mit.edu	37	3	121725931	121725931	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:121725931C>T	ENST00000344209.5	-	2	262	c.136G>A	c.(136-138)Gac>Aac	p.D46N	ILDR1_ENST00000462014.1_Missense_Mutation_p.D58N|ILDR1_ENST00000273691.3_Missense_Mutation_p.D46N|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.D46N	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	46	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTGGTGTAGTCACATTTGAGG	0.522																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(136-138)Gac>Aac		immunoglobulin-like domain containing receptor 1							199.0	151.0	167.0					3																	121725931		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121725931C>T	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.136G>A	3.37:g.121725931C>T	ENSP00000345667:p.Asp46Asn					ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.D58N|ILDR1_ENST00000344209.5_Missense_Mutation_p.D46N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D46N	p.D46N	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	2	241	-			46			Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.136G>A	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077454	0.94000	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000383663;ENST00000393631;ENST00000462014	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.64	5.64	0.86602	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	L	0.50333	1.59	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;0.996;0.998;1.0	T	0.68014	-0.5521	10	0.54805	T	0.06	-24.7588	17.1986	0.86900	0.0:1.0:0.0:0.0	.	46;46;46;58	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	N	46;46;46;46;58	ENSP00000273691:D46N;ENSP00000345667:D46N;ENSP00000377251:D46N;ENSP00000419414:D58N	ENSP00000273691:D46N	D	-	1	0	ILDR1	123208621	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.487000	0.81328	2.654000	0.90174	0.650000	0.86243	GAC		0.522	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		9	58	0	0	0	1	0	9	58				
C15orf59	388135	broad.mit.edu	37	15	74032295	74032295	+	Missense_Mutation	SNP	T	T	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:74032295T>G	ENST00000569673.1	-	3	2049	c.845A>C	c.(844-846)tAc>tCc	p.Y282S	C15orf59_ENST00000379822.4_Missense_Mutation_p.Y282S|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	282										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTGGCTGTGTAGGGCAGAAC	0.547																																						ENST00000569673.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(844-846)tAc>tCc		chromosome 15 open reading frame 59							86.0	95.0	92.0					15																	74032295		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74032295T>G		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.845A>C	15.37:g.74032295T>G	ENSP00000457205:p.Tyr282Ser					C15orf59_ENST00000379822.4_Missense_Mutation_p.Y282S|C15orf59_ENST00000558834.1_5'UTR	p.Y282S			Q2T9L4	CO059_HUMAN			3	2049	-			282						Missense_Mutation	SNP	ENST00000569673.1	37	c.845A>C	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203889	0.79127	.	.	ENSG00000205363	ENST00000379822	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.74943	0.3783	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77869	-0.2427	9	0.87932	D	0	.	14.5288	0.67909	0.0:0.0:0.0:1.0	.	282	Q2T9L4	CO059_HUMAN	S	282	.	ENSP00000369150:Y282S	Y	-	2	0	C15orf59	71819348	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.372000	0.79612	1.906000	0.55180	0.459000	0.35465	TAC		0.547	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		39	146	0	0	0	1	0	39	146				
POLR2A	5430	broad.mit.edu	37	17	7416662	7416662	+	Silent	SNP	G	G	A	rs137857356	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:7416662G>A	ENST00000322644.6	+	29	5478	c.5079G>A	c.(5077-5079)tcG>tcA	p.S1693S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1693	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				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)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ctagctactcgccaacgtctc	0.597																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5077-5079)tcG>tcA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							324.0	271.0	289.0					17																	7416662		2200	4290	6490	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7416662G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5079G>A	17.37:g.7416662G>A							p.S1693S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	5478	+		Prostate(122;0.173)	1693			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.5079G>A	CCDS32548.1																																																																																				0.597	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		3	18	0	0	0	1	0	3	18				
MICU3	286097	broad.mit.edu	37	8	16942798	16942798	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:16942798G>A	ENST00000318063.5	+	6	790	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	250	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										TGATGGCAATGAGATGGTGGA	0.328																																						ENST00000318063.5																			0											c.(748-750)Gag>Aag		mitochondrial calcium uptake family, member 3							128.0	131.0	130.0					8																	16942798		2203	4300	6503	SO:0001583	missense	286097							g.chr8:16942798G>A	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.748G>A	8.37:g.16942798G>A	ENSP00000321455:p.Glu250Lys						p.E250K	NM_181723.2	NP_859074.1					6	790	+								Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.748G>A	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488391|3.488391	0.64074|0.64074	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.78707|.	-1.2|.	5.19|5.19	5.19|5.19	0.71726|0.71726	EF-hand-like domain (1);|.	0.058354|.	0.64402|.	D|.	0.000001|.	T|T	0.70727|0.70727	0.3257|0.3257	M|M	0.61703|0.61703	1.905|1.905	0.47407|0.47407	D|D	0.999415|0.999415	P|.	0.41498|.	0.752|.	P|.	0.45099|.	0.469|.	T|T	0.69146|0.69146	-0.5222|-0.5222	10|5	0.54805|.	T|.	0.06|.	-17.8646|-17.8646	14.6821|14.6821	0.69026|0.69026	0.0:0.145:0.855:0.0|0.0:0.145:0.855:0.0	.|.	250|.	Q86XE3|.	EFHA2_HUMAN|.	K|I	250|107	ENSP00000321455:E250K|.	ENSP00000321455:E250K|.	E|M	+|+	1|3	0|0	EFHA2|EFHA2	16987169|16987169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.679000|3.679000	0.54634|0.54634	2.583000|2.583000	0.87209|0.87209	0.591000|0.591000	0.81541|0.81541	GAG|ATG		0.328	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		22	86	0	0	0	1	0	22	86				
FKBP9P1	360132	broad.mit.edu	37	7	55755684	55755684	+	RNA	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:55755684G>A	ENST00000455909.1	-	0	389				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						GTTCCTAtgagaagaacacat	0.403																																						ENST00000455909.1																			0				endometrium(1)|kidney(1)|lung(3)	5								FK506 binding protein 9-like																																						360132							g.chr7:55755684G>A																													7.37:g.55755684G>A								NR_027340.1|NR_027342.1						0	389	-								B2R7H1	RNA	SNP	ENST00000455909.1	37																																																																																						0.403	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			17	50	0	0	0	1	0	17	50				
LRRIQ1	84125	broad.mit.edu	37	12	85450000	85450000	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85450000G>A	ENST00000393217.2	+	8	1490	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	477										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATTCTGGCAGATTTTAAAAT	0.269																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1429-1431)Gat>Aat		leucine-rich repeats and IQ motif containing 1							22.0	25.0	24.0					12																	85450000		2143	4252	6395	SO:0001583	missense	84125							g.chr12:85450000G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1429G>A	12.37:g.85450000G>A	ENSP00000376910:p.Asp477Asn						p.D477N	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1490	+			477					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.1429G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364976	0.24684	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.53423	0.62	3.93	3.03	0.35002	.	0.527792	0.18063	N	0.152888	T	0.30355	0.0762	N	0.22421	0.69	0.09310	N	1	B;P	0.34462	0.421;0.454	B;B	0.29785	0.107;0.105	T	0.17868	-1.0355	10	0.59425	D	0.04	.	9.0996	0.36660	0.1031:0.0:0.8969:0.0	.	477;452	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	477;452;477	ENSP00000376910:D477N	ENSP00000256007:D477N	D	+	1	0	LRRIQ1	83974131	0.008000	0.16893	0.197000	0.23402	0.293000	0.27360	-0.180000	0.09754	0.999000	0.39023	0.491000	0.48974	GAT		0.269	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		21	62	0	0	0	1	0	21	62				
TRIM16	10626	broad.mit.edu	37	17	15554855	15554855	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:15554855G>C	ENST00000578237.1	-	6	924	c.69C>G	c.(67-69)ctC>ctG	p.L23L	RP11-385D13.1_ENST00000455584.2_Silent_p.L23L|RP11-640I15.1_ENST00000584540.1_RNA|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000336708.7_Silent_p.L23L|TRIM16_ENST00000581224.1_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	23					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		AGTCTGGGCTGAGAGGGGCTG	0.632																																						ENST00000455584.2																			0											c.(67-69)ctC>ctG									34.0	39.0	37.0					17																	15554855		2202	4290	6492	SO:0001819	synonymous_variant	10626							g.chr17:15554855G>C	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.69C>G	17.37:g.15554855G>C						TRIM16_ENST00000336708.7_Silent_p.L23L|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000578237.1_Silent_p.L23L	p.L23L							1	112	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	37	c.69C>G	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	g	2.281	-0.364756	0.05103	.	.	ENSG00000251537	ENST00000455584	.	.	.	5.17	0.479	0.16796	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.574	0.12225	0.2617:0.3121:0.4263:0.0	.	.	.	.	X	38	.	.	S	-	2	0	RP11-385D13.1	15495580	0.999000	0.42202	0.882000	0.34594	0.250000	0.25880	1.027000	0.30115	0.551000	0.29008	0.462000	0.41574	TCA		0.632	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		23	40	0	0	0	1	0	23	40				
SNAPC4	6621	broad.mit.edu	37	9	139292804	139292804	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:139292804G>A	ENST00000298532.2	-	1	445	c.77C>T	c.(76-78)tCg>tTg	p.S26L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGGGAGCCCGAGGAGCCGGG	0.527																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(76-78)tCg>tTg		small nuclear RNA activating complex, polypeptide 4, 190kDa							158.0	165.0	163.0					9																	139292804		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139292804G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.77C>T	9.37:g.139292804G>A	ENSP00000298532:p.Ser26Leu						p.S26L	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	1	445	-		Myeloproliferative disorder(178;0.0511)	26						Missense_Mutation	SNP	ENST00000298532.2	37	c.77C>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	g	9.241	1.038275	0.19669	.	.	ENSG00000165684	ENST00000298532	T	0.30981	1.51	4.7	3.81	0.43845	.	0.773311	0.11565	N	0.551312	T	0.23014	0.0556	L	0.44542	1.39	0.09310	N	1	P	0.42161	0.772	B	0.27262	0.078	T	0.09314	-1.0680	10	0.72032	D	0.01	-5.4773	11.8005	0.52124	0.0867:0.0:0.9133:0.0	.	26	Q5SXM2	SNPC4_HUMAN	L	26	ENSP00000298532:S26L	ENSP00000298532:S26L	S	-	2	0	SNAPC4	138412625	0.183000	0.23186	0.001000	0.08648	0.002000	0.02628	3.794000	0.55492	1.115000	0.41800	0.651000	0.88453	TCG		0.527	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		30	83	0	0	0	1	0	30	83				
NPIPA5	100288332	broad.mit.edu	37	16	15457646	15457646	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:15457646G>C	ENST00000360151.4	-	8	922	c.923C>G	c.(922-924)cCt>cGt	p.P308R		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	308	Pro-rich.																ACACTCGGCAGGTGTCTTGAG	0.572																																						ENST00000360151.4																			0											c.(922-924)cCt>cGt		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457646G>C		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.923C>G	16.37:g.15457646G>C	ENSP00000433597:p.Pro308Arg						p.P308R	NM_001277325.1	NP_001264254.1					8	922	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.923C>G	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	7.626	0.677834	0.14841	.	.	ENSG00000183793	ENST00000360151	T	0.55930	0.49	.	.	.	.	.	.	.	.	T	0.41166	0.1147	L	0.28115	0.83	0.09310	N	1	.	.	.	.	.	.	T	0.39542	-0.9609	4	0.87932	D	0	.	.	.	.	.	.	.	.	R	308	ENSP00000433597:P308R	ENSP00000433597:P308R	P	-	2	0	RP11-82O18.1	15365147	0.003000	0.15002	.	.	.	.	0.075000	0.14686	.	.	.	.	CCT		0.572	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			18	104	0	0	0	1	0	18	104				
MROH8	140699	broad.mit.edu	37	20	35766276	35766276	+	Missense_Mutation	SNP	G	G	A	rs370012359		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35766276G>A	ENST00000400441.3	-	13	1585	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F	MROH8_ENST00000441008.2_Missense_Mutation_p.S515F|MROH8_ENST00000217333.8_Missense_Mutation_p.S358F			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	414																	CTTGGGTCTGGATATAAATAA	0.443																																						ENST00000400441.3																			0											c.(1585-1587)tCc>tTc		maestro heat-like repeat family member 8							112.0	105.0	107.0					20																	35766276		1865	4111	5976	SO:0001583	missense	140699							g.chr20:35766276G>A	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1586C>T	20.37:g.35766276G>A	ENSP00000383291:p.Ser529Phe					MROH8_ENST00000441008.2_Missense_Mutation_p.S515F|MROH8_ENST00000217333.8_Missense_Mutation_p.S358F	p.S529F							13	1585	-								Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.1586C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.78|16.78	3.217770|3.217770	0.58560|0.58560	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811;ENST00000400440|ENST00000441008;ENST00000400441;ENST00000217333	.|T;T;T	.|0.34072	.|3.26;3.26;1.38	5.49|5.49	4.52|4.52	0.55395|0.55395	.|.	.|0.635701	.|0.15577	.|N	.|0.255102	T|T	0.56046|0.56046	0.1959|0.1959	M|M	0.66939|0.66939	2.045|2.045	0.32488|0.32488	N|N	0.540618|0.540618	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.998	.|D;D;D;D	.|0.76575	.|0.942;0.988;0.988;0.962	T|T	0.62445|0.62445	-0.6853|-0.6853	5|10	.|0.34782	.|T	.|0.22	-9.6318|-9.6318	12.0856|12.0856	0.53695|0.53695	0.0:0.1732:0.8268:0.0|0.0:0.1732:0.8268:0.0	.|.	.|529;414;539;363	.|E7ETR9;Q9H579;Q6PF12;Q9H579-2	.|.;CT132_HUMAN;.;.	S|F	556;560|515;529;358	.|ENSP00000392144:S515F;ENSP00000383291:S529F;ENSP00000217333:S358F	.|ENSP00000217333:S358F	P|S	-|-	1|2	0|0	C20orf132|C20orf132	35199690|35199690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.721000|0.721000	0.41392|0.41392	2.851000|2.851000	0.48302|0.48302	1.263000|1.263000	0.44181|0.44181	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.443	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		6	27	0	0	0	1	0	6	27				
ADAMTS7	11173	broad.mit.edu	37	15	79089016	79089016	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:79089016C>T	ENST00000388820.4	-	4	945	c.735G>A	c.(733-735)gaG>gaA	p.E245E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	245	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTACCAGGGTCTCCACCCACT	0.607																																						ENST00000388820.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(733-735)gaG>gaA		ADAM metallopeptidase with thrombospondin type 1 motif, 7							158.0	128.0	138.0					15																	79089016		2196	4293	6489	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79089016C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.735G>A	15.37:g.79089016C>T						ADAMTS7_ENST00000566303.1_5'UTR	p.E245E	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			4	945	-			245			Peptidase M12B.		Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.735G>A	CCDS32303.1																																																																																				0.607	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		36	110	0	0	0	1	0	36	110				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							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)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	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.11098863A>G												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	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	16	0	0	0	1	0	6	16				
MED29	55588	broad.mit.edu	37	19	39882005	39882005	+	5'Flank	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:39882005G>A	ENST00000599213.2	+	0	0				MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000595564.1_5'Flank|PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000315588.5_Silent_p.L2L			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TAGGGATGCTGAAAAGCAACG	0.572																																						ENST00000315588.5																			0				lung(2)|ovary(1)|pancreas(1)	4						c.(4-6)ctG>ctA		mediator complex subunit 29							35.0	33.0	34.0					19																	39882005		2203	4300	6503	SO:0001631	upstream_gene_variant	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39882005G>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39882005G>A	Exception_encountered						p.L2L	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		1	55	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		0					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.6G>A																																																																																					0.572	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		8	15	0	0	0	1	0	8	15				
DST	667	broad.mit.edu	37	6	56325006	56325006	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:56325006G>A	ENST00000361203.3	-	97	22053	c.22046C>T	c.(22045-22047)tCa>tTa	p.S7349L	DST_ENST00000370769.4_Missense_Mutation_p.S7460L|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S5345L|DST_ENST00000370754.5_Missense_Mutation_p.S7638L|DST_ENST00000446842.2_Missense_Mutation_p.S7134L|DST_ENST00000370788.2_Missense_Mutation_p.S5263L|DST_ENST00000244364.6_Missense_Mutation_p.S5059L			Q03001	DYST_HUMAN	dystonin	7458	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCTTTCCCTGATAAATATCC	0.453																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(22912-22914)tCa>tTa		dystonin							87.0	91.0	90.0					6																	56325006		1920	4133	6053	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56325006G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22046C>T	6.37:g.56325006G>A	ENSP00000354508:p.Ser7349Leu					DST_ENST00000421834.2_Missense_Mutation_p.S5345L|DST_ENST00000446842.2_Missense_Mutation_p.S7134L|DST_ENST00000244364.6_Missense_Mutation_p.S5059L|DST_ENST00000370788.2_Missense_Mutation_p.S5263L|DST_ENST00000361203.3_Missense_Mutation_p.S7349L|DST_ENST00000370769.4_Missense_Mutation_p.S7460L|DST_ENST00000312431.6_3'UTR	p.S7638L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		101	22912	-	Lung NSC(77;0.103)		7458					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.22913C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.871038|4.871038	0.91587|0.91587	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.70045	.|0.38;-0.42;-0.45;-0.32;0.49;-0.21;-0.31	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.46145	.|D	.|0.000312	.|T	.|0.81735	.|0.4885	M|M	0.78801|0.78801	2.425|2.425	.|.	.|.	.|.	.|D;D;D;D;B;D;D;B	.|0.89917	.|0.999;1.0;0.997;0.999;0.022;0.994;0.999;0.002	.|D;D;D;D;B;D;D;B	.|0.83275	.|0.994;0.996;0.989;0.994;0.037;0.983;0.996;0.011	.|T	.|0.81625	.|-0.0848	.|9	.|0.87932	.|D	.|0	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5345;7460;7638;7458;5059;146;146;5263	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	X|L	147|5059;7638;7460;5345;7134;5263;7349	.|ENSP00000244364:S5059L;ENSP00000359790:S7638L;ENSP00000359805:S7460L;ENSP00000400883:S5345L;ENSP00000393645:S7134L;ENSP00000359824:S5263L;ENSP00000354508:S7349L	.|ENSP00000244364:S5059L	Q|S	-|-	1|2	0|0	DST|DST	56432965|56432965	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.985000|0.985000	0.73830|0.73830	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		6	58	0	0	0	1	0	6	58				
SCO1	6341	broad.mit.edu	37	17	10590123	10590123	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:10590123C>G	ENST00000255390.5	-	5	752	c.692G>C	c.(691-693)aGa>aCa	p.R231T	SCO1_ENST00000577427.1_Missense_Mutation_p.R200T|CTC-297N7.10_ENST00000584139.1_RNA	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	231					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						GACCTCTTCTCTCGTGCCAGT	0.423																																					Melanoma(128;591 1731 19711 31891 44645)	ENST00000255390.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						c.(691-693)aGa>aCa		SCO1 cytochrome c oxidase assembly protein							123.0	121.0	122.0					17																	10590123		2203	4300	6503	SO:0001583	missense	6341				cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr17:10590123C>G	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.692G>C	17.37:g.10590123C>G	ENSP00000255390:p.Arg231Thr					SCO1_ENST00000577427.1_Missense_Mutation_p.R200T	p.R231T	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN			5	752	-			231					B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	c.692G>C	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	C	1.192	-0.634888	0.03584	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.86562	-2.14	5.88	3.53	0.40419	Thioredoxin-like fold (2);	0.437122	0.27122	N	0.020823	T	0.70596	0.3242	N	0.11255	0.115	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.15870	0.012;0.014	T	0.53865	-0.8378	10	0.12766	T	0.61	-20.7364	7.6184	0.28171	0.0:0.1489:0.1934:0.6577	.	200;231	A8MY34;O75880	.;SCO1_HUMAN	T	231;200	ENSP00000255390:R231T	ENSP00000255390:R231T	R	-	2	0	SCO1	10530848	0.554000	0.26522	0.964000	0.40570	0.061000	0.15899	0.141000	0.16076	1.041000	0.40125	-0.474000	0.04947	AGA		0.423	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		33	87	0	0	0	1	0	33	87				
PTPRT	11122	broad.mit.edu	37	20	40828010	40828010	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:40828010C>G	ENST00000373187.1	-	16	2360	c.2361G>C	c.(2359-2361)caG>caC	p.Q787H	PTPRT_ENST00000373198.4_Missense_Mutation_p.Q806H|PTPRT_ENST00000373193.3_Missense_Mutation_p.Q790H|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q787H|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q777H|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q796H|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q777H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	787					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)				GGGTCTCCTTCTGCTTCTTGG	0.552																																						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.(2425-2427)caG>caC		protein tyrosine phosphatase, receptor type, T							113.0	120.0	118.0					20																	40828010		1984	4162	6146	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.chr20:40828010C>G	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.2361G>C	20.37:g.40828010C>G	ENSP00000362283:p.Gln787His					PTPRT_ENST00000373193.3_Missense_Mutation_p.Q790H|PTPRT_ENST00000373187.1_Missense_Mutation_p.Q787H|PTPRT_ENST00000373201.1_Missense_Mutation_p.Q777H|PTPRT_ENST00000356100.2_Missense_Mutation_p.Q796H|PTPRT_ENST00000373184.1_Missense_Mutation_p.Q777H|PTPRT_ENST00000373190.1_Missense_Mutation_p.Q787H	p.Q809H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			17	2662	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	787					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2427G>C	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143432	0.77888	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.36157	1.29;1.28;1.27;1.32;1.31;1.28;1.29	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	L	0.51422	1.61	0.80722	D	1	D;D	0.63880	0.993;0.988	D;P	0.65443	0.935;0.707	T	0.47812	-0.9088	10	0.54805	T	0.06	.	14.495	0.67680	0.0:0.9303:0.0:0.0697	.	809;787	O14522-1;O14522	.;PTPRT_HUMAN	H	787;787;790;796;809;777;777	ENSP00000362286:Q787H;ENSP00000362283:Q787H;ENSP00000362289:Q790H;ENSP00000348408:Q796H;ENSP00000362294:Q809H;ENSP00000362280:Q777H;ENSP00000362297:Q777H	ENSP00000348408:Q796H	Q	-	3	2	PTPRT	40261424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.380000	0.59581	2.814000	0.96858	0.591000	0.81541	CAG		0.552	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			45	135	0	0	0	1	0	45	135				
LZIC	84328	broad.mit.edu	37	1	9992908	9992908	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:9992908G>C	ENST00000377223.1	-	6	632	c.385C>G	c.(385-387)Caa>Gaa	p.Q129E	LZIC_ENST00000400903.2_Missense_Mutation_p.Q129E|LZIC_ENST00000377213.1_Missense_Mutation_p.Q129E|LZIC_ENST00000541052.1_Missense_Mutation_p.Q150E	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	129					response to ionizing radiation (GO:0010212)					breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		ACTTTCTGTTGAGTGTACAGG	0.343																																						ENST00000377223.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(385-387)Caa>Gaa		leucine zipper and CTNNBIP1 domain containing							185.0	173.0	177.0					1																	9992908		2203	4299	6502	SO:0001583	missense	84328						beta-catenin binding	g.chr1:9992908G>C	AB060688	CCDS107.1	1p36.22	2008-02-05			ENSG00000162441	ENSG00000162441			17497	protein-coding gene	gene with protein product		610458				11712074	Standard	NM_032368		Approved	MGC15436	uc001aqm.3	Q8WZA0	OTTHUMG00000001804	ENST00000377223.1:c.385C>G	1.37:g.9992908G>C	ENSP00000366430:p.Gln129Glu					LZIC_ENST00000400903.2_Missense_Mutation_p.Q129E|LZIC_ENST00000541052.1_Missense_Mutation_p.Q150E|LZIC_ENST00000377213.1_Missense_Mutation_p.Q129E	p.Q129E			Q8WZA0	LZIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)	6	632	-		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	129					B2R6F0|B4E2N0|Q96IU1	Missense_Mutation	SNP	ENST00000377223.1	37	c.385C>G	CCDS107.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593347	0.28357	.	.	ENSG00000162441	ENST00000377223;ENST00000400903;ENST00000541052;ENST00000377213	T;T;T;T	0.44083	0.95;0.95;0.93;0.95	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	L	0.49640	1.575	0.58432	D	0.999995	B;B	0.15473	0.013;0.003	B;B	0.15052	0.012;0.005	T	0.18209	-1.0344	9	.	.	.	-20.8386	19.62	0.95651	0.0:0.0:1.0:0.0	.	150;129	B4E2N0;Q8WZA0	.;LZIC_HUMAN	E	129;129;150;129	ENSP00000366430:Q129E;ENSP00000383695:Q129E;ENSP00000437432:Q150E;ENSP00000366418:Q129E	.	Q	-	1	0	LZIC	9915495	1.000000	0.71417	0.703000	0.30354	0.991000	0.79684	7.862000	0.87013	2.618000	0.88619	0.591000	0.81541	CAA		0.343	LZIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005037.1	NM_032368		24	64	0	0	0	1	0	24	64				
MYO5A	4644	broad.mit.edu	37	15	52725455	52725455	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:52725455C>G	ENST00000399231.3	-	2	298	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	MYO5A_ENST00000399233.2_Missense_Mutation_p.E19Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.E19Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.E19Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.E19Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	19					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CAGACTTCCTCTGGATCAGGT	0.373																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(55-57)Gag>Cag		myosin VA (heavy chain 12, myoxin)							87.0	79.0	82.0					15																	52725455		1806	4073	5879	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52725455C>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.55G>C	15.37:g.52725455C>G	ENSP00000382177:p.Glu19Gln					MYO5A_ENST00000358212.6_Missense_Mutation_p.E19Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.E19Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.E19Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.E19Q	p.E19Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	2	298	-			19			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.55G>C	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170738	0.94807	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	M	0.68728	2.09	0.80722	D	1	P;P	0.50443	0.935;0.902	P;P	0.53450	0.726;0.463	T	0.71507	-0.4572	10	0.56958	D	0.05	.	19.8379	0.96666	0.0:1.0:0.0:0.0	.	19;19	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	Q	19	ENSP00000382177:E19Q;ENSP00000382179:E19Q;ENSP00000348693:E19Q;ENSP00000350945:E19Q;ENSP00000451109:E19Q	ENSP00000348693:E19Q	E	-	1	0	MYO5A	50512747	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	7.487000	0.81328	2.694000	0.91930	0.555000	0.69702	GAG		0.373	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		40	102	0	0	0	1	0	40	102				
HIST2H2BB	338391	broad.mit.edu	37	1	149378170	149378170	+	lincRNA	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:149378170G>A	ENST00000415338.1	-	0	1061				HIST2H2BB_ENST00000609585.1_RNA																							GATCTGGACCGTCCCCTGTCC	0.547																																						ENST00000415338.1																			0																																																			338391							g.chr1:149378170G>A																													1.37:g.149378170G>A														0	1061	-									RNA	SNP	ENST00000415338.1	37																																																																																						0.547	RP5-998N21.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098435.1			10	30	0	0	0	1	0	10	30				
TRPC1	7220	broad.mit.edu	37	3	142499837	142499837	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:142499837G>A	ENST00000476941.1	+	6	1412	c.926G>A	c.(925-927)cGt>cAt	p.R309H	TRPC1_ENST00000273482.6_Missense_Mutation_p.R275H	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	309					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.R275H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AATTTAAGTCGTCTAAAACTT	0.368																																						ENST00000273482.6																			1	Substitution - Missense(1)	p.R275H(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(823-825)cGt>cAt		transient receptor potential cation channel, subfamily C, member 1							49.0	52.0	51.0					3																	142499837		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142499837G>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.926G>A	3.37:g.142499837G>A	ENSP00000419313:p.Arg309His					TRPC1_ENST00000476941.1_Missense_Mutation_p.R309H	p.R275H	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN			5	1215	+			309					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.824G>A	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353964	0.95830	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.74315	-0.83;-0.83	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.976;0.997	D	0.88404	0.3017	10	0.87932	D	0	-18.6433	20.04	0.97581	0.0:0.0:1.0:0.0	.	309;275	P48995;P48995-2	TRPC1_HUMAN;.	H	309;275	ENSP00000419313:R309H;ENSP00000273482:R275H	ENSP00000273482:R275H	R	+	2	0	TRPC1	143982527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.733000	0.93635	0.655000	0.94253	CGT		0.368	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		30	94	0	0	0	1	0	30	94				
KRT5	3852	broad.mit.edu	37	12	52912867	52912867	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:52912867C>T	ENST00000252242.4	-	2	1023	c.633G>A	c.(631-633)gtG>gtA	p.V211V		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	211	Linker 1.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTTCTGCCTCACAGTCTTGG	0.607																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(631-633)gtG>gtA		keratin 5							81.0	76.0	77.0					12																	52912867		2203	4296	6499	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52912867C>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.633G>A	12.37:g.52912867C>T							p.V211V	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	1023	-			211			Linker 1.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.633G>A	CCDS8830.1																																																																																				0.607	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			37	101	0	0	0	1	0	37	101				
CRHBP	1393	broad.mit.edu	37	5	76264639	76264639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:76264639C>T	ENST00000274368.4	+	7	1320	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	300					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TGAGTATCGTCAGCTGGAGCC	0.458																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(898-900)Cag>Tag		corticotropin releasing hormone binding protein							147.0	131.0	137.0					5																	76264639		2203	4300	6503	SO:0001587	stop_gained	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76264639C>T	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.898C>T	5.37:g.76264639C>T	ENSP00000274368:p.Gln300*					CRHBP_ENST00000514258.1_Intron	p.Q300*	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	7	1320	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	300					Q53F32|Q6FHT5	Nonsense_Mutation	SNP	ENST00000274368.4	37	c.898C>T	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	C	39	7.714260	0.98450	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.64	5.64	0.86602	.	0.354886	0.29964	N	0.010752	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-25.5987	20.0578	0.97660	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000274368:Q300X	Q	+	1	0	CRHBP	76300395	1.000000	0.71417	0.964000	0.40570	0.619000	0.37552	5.641000	0.67881	2.817000	0.96982	0.655000	0.94253	CAG		0.458	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		20	75	0	0	0	1	0	20	75				
DOCK2	1794	broad.mit.edu	37	5	169446073	169446073	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:169446073G>C	ENST00000256935.8	+	33	3422	c.3342G>C	c.(3340-3342)atG>atC	p.M1114I	DOCK2_ENST00000540750.1_Missense_Mutation_p.M175I|DOCK2_ENST00000520908.1_Missense_Mutation_p.M606I|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1114	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTCGACATGATGCTGTGTG	0.458																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3340-3342)atG>atC		dedicator of cytokinesis 2							176.0	176.0	176.0					5																	169446073		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169446073G>C	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3342G>C	5.37:g.169446073G>C	ENSP00000256935:p.Met1114Ile					DOCK2_ENST00000540750.1_Missense_Mutation_p.M175I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.M606I	p.M1114I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		33	3422	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1114			Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3342G>C	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925830	0.92319	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.27890	1.64;1.64;1.64	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	M	0.87547	2.89	0.58432	D	0.999996	P;B	0.39831	0.69;0.172	B;B	0.36666	0.23;0.025	T	0.55108	-0.8192	10	0.48119	T	0.1	.	17.871	0.88811	0.0:0.0:1.0:0.0	.	606;1114	E7ERW7;Q92608	.;DOCK2_HUMAN	I	1114;606;175	ENSP00000256935:M1114I;ENSP00000429283:M606I;ENSP00000438827:M175I	ENSP00000256935:M1114I	M	+	3	0	DOCK2	169378651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.739000	0.98837	2.210000	0.71456	0.650000	0.86243	ATG		0.458	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		66	225	0	0	0	1	0	66	225				
KLF3	51274	broad.mit.edu	37	4	38690408	38690408	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:38690408C>G	ENST00000261438.5	+	3	565	c.260C>G	c.(259-261)tCa>tGa	p.S87*	KLF3_ENST00000514033.1_Nonsense_Mutation_p.S87*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	87	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TTCCCGTCCTCACACCGGAGA	0.602																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(259-261)tCa>tGa		Kruppel-like factor 3 (basic)							79.0	72.0	74.0					4																	38690408		2203	4300	6503	SO:0001587	stop_gained	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38690408C>G	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.260C>G	4.37:g.38690408C>G	ENSP00000261438:p.Ser87*					KLF3_ENST00000514033.1_Nonsense_Mutation_p.S87*	p.S87*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			3	565	+			87			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Nonsense_Mutation	SNP	ENST00000261438.5	37	c.260C>G	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	C	37	6.236901	0.97403	.	.	ENSG00000109787	ENST00000261438;ENST00000514033	.	.	.	5.5	4.66	0.58398	.	0.394075	0.24520	N	0.037812	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	11.3386	0.49520	0.0:0.8419:0.0:0.1581	.	.	.	.	X	87	.	ENSP00000261438:S87X	S	+	2	0	KLF3	38366803	0.000000	0.05858	0.020000	0.16555	0.994000	0.84299	0.786000	0.26844	1.326000	0.45319	0.655000	0.94253	TCA		0.602	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			16	53	0	0	0	1	0	16	53				
PRR25	388199	broad.mit.edu	37	16	855560	855560	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:855560C>G	ENST00000301698.1	+	1	118	c.118C>G	c.(118-120)Cga>Gga	p.R40G		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	40										large_intestine(1)|lung(1)|skin(1)	3						TCACAGGCCTCGAACGTGCAT	0.667																																						ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(118-120)Cga>Gga		proline rich 25							32.0	40.0	38.0					16																	855560		2031	4178	6209	SO:0001583	missense	388199							g.chr16:855560C>G	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.118C>G	16.37:g.855560C>G	ENSP00000301698:p.Arg40Gly						p.R40G	NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN			1	118	+			40						Missense_Mutation	SNP	ENST00000301698.1	37	c.118C>G	CCDS45372.1	.	.	.	.	.	.	.	.	.	.	C	2.688	-0.273842	0.05679	.	.	ENSG00000167945	ENST00000301698	T	0.39592	1.07	0.43	-0.72	0.11195	.	.	.	.	.	T	0.18759	0.0450	N	0.14661	0.345	0.09310	N	1	D	0.56287	0.975	B	0.36464	0.225	T	0.15150	-1.0447	8	0.87932	D	0	.	.	.	.	.	40	Q96S07	PRR25_HUMAN	G	40	ENSP00000301698:R40G	ENSP00000301698:R40G	R	+	1	2	PRR25	795561	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.474000	0.06607	-0.449000	0.07117	-0.448000	0.05591	CGA		0.667	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		5	25	0	0	0	1	0	5	25				
VCX3B	425054	broad.mit.edu	37	X	8433467	8433467	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:8433467G>A	ENST00000381032.1	+	0	283				VCX3B_ENST00000453306.1_De_novo_Start_InFrame|VCX3B_ENST00000381029.4_5'UTR|VCX3B_ENST00000440654.2_De_novo_Start_InFrame|VCX3B_ENST00000444481.1_De_novo_Start_InFrame	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B							nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						TTAGTCGACCGTTGCGAGACG	0.597																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11								variable charge, X-linked 3B							35.0	43.0	40.0					X																	8433467		1461	2670	4131			425054					nucleolus		g.chrX:8433467G>A		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106		X.37:g.8433467G>A						VCX3B_ENST00000381029.4_5'UTR|VCX3B_ENST00000453306.1_De_novo_Start_InFrame|VCX3B_ENST00000444481.1_De_novo_Start_InFrame|VCX3B_ENST00000440654.2_De_novo_Start_InFrame		NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			0	283	+								C9JS46|Q4KN12	Translation_Start_Site	SNP	ENST00000381032.1	37		CCDS48077.2																																																																																				0.597	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			3	15	0	0	0	1	0	3	15				
SLC9A5	6553	broad.mit.edu	37	16	67291449	67291449	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:67291449C>G	ENST00000299798.11	+	9	1506	c.1441C>G	c.(1441-1443)Ctg>Gtg	p.L481V		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	481					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGACCACATTCTGGCTGCAGT	0.617																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1441-1443)Ctg>Gtg		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							75.0	80.0	78.0					16																	67291449		1975	4139	6114	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67291449C>G		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1441C>G	16.37:g.67291449C>G	ENSP00000299798:p.Leu481Val						p.L481V	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	9	1506	+		Ovarian(137;0.0563)	481					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1441C>G	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.590781	0.28357	.	.	ENSG00000135740	ENST00000299798	T	0.58060	0.36	5.36	4.2	0.49525	.	0.181067	0.38005	N	0.001856	T	0.47377	0.1442	M	0.65975	2.015	0.39324	D	0.965309	P	0.43857	0.819	B	0.39876	0.312	T	0.54516	-0.8282	10	0.52906	T	0.07	.	7.5843	0.27982	0.1555:0.7084:0.0:0.1361	.	481	Q14940	SL9A5_HUMAN	V	481	ENSP00000299798:L481V	ENSP00000299798:L481V	L	+	1	2	SLC9A5	65848950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.213000	0.51153	2.501000	0.84356	0.655000	0.94253	CTG		0.617	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			20	43	0	0	0	1	0	20	43				
FARP2	9855	broad.mit.edu	37	2	242433534	242433534	+	Missense_Mutation	SNP	G	G	C	rs145352184	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:242433534G>C	ENST00000264042.3	+	27	3329	c.3159G>C	c.(3157-3159)gaG>gaC	p.E1053D	STK25_ENST00000478403.1_5'Flank|STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1053					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGGGGAAGGAGGAATGACGCT	0.612																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(3157-3159)gaG>gaC		FERM, RhoGEF and pleckstrin domain protein 2							39.0	40.0	39.0					2																	242433534		2203	4299	6502	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242433534G>C	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.3159G>C	2.37:g.242433534G>C	ENSP00000264042:p.Glu1053Asp					STK25_ENST00000316586.4_3'UTR	p.E1053D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	27	3329	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	1053					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.3159G>C	CCDS33424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.597|8.597	0.886043|0.886043	0.17540|0.17540	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000264042|ENST00000412332	T|.	0.75154|.	-0.91|.	2.55|2.55	0.712|0.712	0.18167|0.18167	.|.	0.653709|.	0.11022|.	U|.	0.608239|.	T|T	0.15478|0.15478	0.0373|0.0373	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.31318|.	0.319|.	B|.	0.20955|.	0.032|.	T|T	0.26950|0.26950	-1.0088|-1.0088	10|5	0.51188|.	T|.	0.08|.	.|.	4.7923|4.7923	0.13254|0.13254	0.3105:0.0:0.6895:0.0|0.3105:0.0:0.6895:0.0	.|.	1053|.	O94887|.	FARP2_HUMAN|.	D|T	1053|55	ENSP00000264042:E1053D|.	ENSP00000264042:E1053D|.	E|R	+|+	3|2	2|0	FARP2|FARP2	242082207|242082207	0.002000|0.002000	0.14202|0.14202	0.006000|0.006000	0.13384|0.13384	0.013000|0.013000	0.08279|0.08279	0.249000|0.249000	0.18216|0.18216	0.189000|0.189000	0.20188|0.20188	-0.291000|-0.291000	0.09656|0.09656	GAG|AGG		0.612	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			10	55	0	0	0	1	0	10	55				
MROH8	140699	broad.mit.edu	37	20	35743606	35743606	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35743606C>G	ENST00000400441.3	-	19	2504	c.2505G>C	c.(2503-2505)atG>atC	p.M835I	MROH8_ENST00000441008.2_Missense_Mutation_p.M821I|MROH8_ENST00000217333.8_Missense_Mutation_p.M664I			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0								p.M835I(1)									GGGTCCTCATCATGGCAGCCA	0.463																																						ENST00000400441.3																			1	Substitution - Missense(1)	p.M835I(1)	large_intestine(1)								c.(2503-2505)atG>atC		maestro heat-like repeat family member 8							125.0	123.0	123.0					20																	35743606		2008	4175	6183	SO:0001583	missense	140699							g.chr20:35743606C>G	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2505G>C	20.37:g.35743606C>G	ENSP00000383291:p.Met835Ile					MROH8_ENST00000441008.2_Missense_Mutation_p.M821I|MROH8_ENST00000217333.8_Missense_Mutation_p.M664I	p.M835I							19	2504	-								Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.2505G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.32|12.32|12.32	1.903930|1.903930|1.903930	0.33628|0.33628|0.33628	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000417458|ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811	.|T;T;T|.	.|0.61627|.	.|0.11;1.78;0.09|.	5.27|5.27|5.27	4.25|4.25|4.25	0.50352|0.50352|0.50352	.|.|.	.|0.386929|.	.|0.26377|.	.|N|.	.|0.024724|.	T|T|.	0.40119|0.40119|.	0.1104|0.1104|.	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.32388|0.32388|0.32388	N|N|N	0.553689|0.553689|0.553689	.|B;B|.	.|0.06786|.	.|0.0;0.001|.	.|B;B|.	.|0.10450|.	.|0.001;0.005|.	T|T|.	0.44267|0.44267|.	-0.9339|-0.9339|.	5|10|.	.|0.05351|.	.|T|.	.|0.99|.	-17.8986|-17.8986|-17.8986	10.7892|10.7892|10.7892	0.46424|0.46424|0.46424	0.0:0.7544:0.2456:0.0|0.0:0.7544:0.2456:0.0|0.0:0.7544:0.2456:0.0	.|.|.	.|835;669|.	.|E7ETR9;Q9H579-2|.	.|.;.|.	H|I|S	463|821;835;664|862	.|ENSP00000392144:M821I;ENSP00000383291:M835I;ENSP00000217333:M664I|.	.|ENSP00000217333:M664I|.	D|M|X	-|-|-	1|3|2	0|0|2	C20orf132|C20orf132|C20orf132	35177020|35177020|35177020	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	1.042000|1.042000|1.042000	0.30303|0.30303|0.30303	2.615000|2.615000|2.615000	0.88500|0.88500|0.88500	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|ATG|TGA		0.463	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		29	109	0	0	0	1	0	29	109				
CREBBP	1387	broad.mit.edu	37	16	3789610	3789610	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3789610A>G	ENST00000262367.5	-	25	5058	c.4249T>C	c.(4249-4251)Tac>Cac	p.Y1417H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1379H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1417	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCAGAGCCGTATTCTTGGACG	0.488			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4249-4251)Tac>Cac		CREB binding protein							85.0	78.0	80.0					16																	3789610		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3789610A>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4249T>C	16.37:g.3789610A>G	ENSP00000262367:p.Tyr1417His					CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1379H	p.Y1417H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	25	5058	-		Ovarian(90;0.0266)	1417			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4249T>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	17.05	3.289338	0.59976	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.97924	-4.61;-4.61	5.36	5.36	0.76844	.	0.179136	0.39274	N	0.001415	D	0.98729	0.9573	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99777	1.1026	10	0.66056	D	0.02	-12.3771	15.6411	0.77001	1.0:0.0:0.0:0.0	.	1447;1417	Q4LE28;Q92793	.;CBP_HUMAN	H	1417;1447;1379;6	ENSP00000262367:Y1417H;ENSP00000371502:Y1379H	ENSP00000262367:Y1417H	Y	-	1	0	CREBBP	3729611	1.000000	0.71417	0.167000	0.22817	0.595000	0.36748	9.210000	0.95106	2.153000	0.67306	0.459000	0.35465	TAC		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		27	41	0	0	0	1	0	27	41				
S1PR4	8698	broad.mit.edu	37	19	3179392	3179392	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:3179392C>G	ENST00000246115.3	+	1	657	c.602C>G	c.(601-603)tCc>tGc	p.S201C	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	201					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCCCTCTACTCCAAGCGCTAC	0.657																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(601-603)tCc>tGc		sphingosine-1-phosphate receptor 4							146.0	150.0	149.0					19																	3179392		2203	4299	6502	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179392C>G	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.602C>G	19.37:g.3179392C>G	ENSP00000246115:p.Ser201Cys					S1PR4_ENST00000591346.1_3'UTR	p.S201C	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	657	+			201					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.602C>G	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108252	0.77096	.	.	ENSG00000125910	ENST00000246115	T	0.38240	1.15	3.93	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.139333	0.49305	D	0.000149	T	0.61211	0.2329	M	0.85462	2.755	0.51482	D	0.99992	D	0.71674	0.998	D	0.64321	0.924	T	0.70436	-0.4872	10	0.72032	D	0.01	.	14.8939	0.70630	0.0:1.0:0.0:0.0	.	201	O95977	S1PR4_HUMAN	C	201	ENSP00000246115:S201C	ENSP00000246115:S201C	S	+	2	0	S1PR4	3130392	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.317000	0.79018	1.923000	0.55706	0.462000	0.41574	TCC		0.657	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		44	270	0	0	0	1	0	44	270				
KANK4	163782	broad.mit.edu	37	1	62740699	62740699	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:62740699G>A	ENST00000371153.4	-	3	455	c.77C>T	c.(76-78)tCt>tTt	p.S26F	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	26						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGTCTCCACAGAATAAGGGTG	0.438																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(76-78)tCt>tTt		KN motif and ankyrin repeat domains 4							97.0	101.0	100.0					1																	62740699		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62740699G>A	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.77C>T	1.37:g.62740699G>A	ENSP00000360195:p.Ser26Phe					KANK4_ENST00000354381.3_Intron	p.S26F	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	455	-			26					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.77C>T	CCDS620.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879712	0.51801	.	.	ENSG00000132854	ENST00000371153	T	0.60797	0.16	4.86	3.95	0.45737	Kank N-terminal motif (1);	0.208442	0.24452	N	0.038410	T	0.54078	0.1836	L	0.52905	1.665	0.80722	D	1	B	0.33477	0.413	B	0.36186	0.219	T	0.54807	-0.8238	10	0.40728	T	0.16	-7.3082	13.1865	0.59684	0.0764:0.0:0.9236:0.0	.	26	Q5T7N3	KANK4_HUMAN	F	26	ENSP00000360195:S26F	ENSP00000360195:S26F	S	-	2	0	KANK4	62513287	1.000000	0.71417	0.860000	0.33809	0.582000	0.36321	3.674000	0.54598	1.280000	0.44463	0.563000	0.77884	TCT		0.438	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		23	81	0	0	0	1	0	23	81				
SULF1	23213	broad.mit.edu	37	8	70551084	70551084	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:70551084C>T	ENST00000260128.4	+	21	3259	c.2542C>T	c.(2542-2544)Ctt>Ttt	p.L848F	SULF1_ENST00000402687.4_Missense_Mutation_p.L848F|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.L848F|SULF1_ENST00000419716.3_Missense_Mutation_p.L848F	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	848					apoptotic process (GO:0006915)|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 angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACCTAAGAATCTTGATGTTGG	0.378																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2542-2544)Ctt>Ttt		sulfatase 1							65.0	58.0	61.0					8																	70551084		2203	4300	6503	SO:0001583	missense	23213				apoptosis|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.chr8:70551084C>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2542C>T	8.37:g.70551084C>T	ENSP00000260128:p.Leu848Phe					SULF1_ENST00000402687.4_Missense_Mutation_p.L848F|SULF1_ENST00000419716.3_Missense_Mutation_p.L848F|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.L848F	p.L848F	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		21	3259	+	Breast(64;0.0654)		848					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2542C>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960083	0.53400	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33	5.19	5.19	0.71726	.	0.528179	0.20395	N	0.093168	D	0.97461	0.9169	L	0.53249	1.67	0.32539	N	0.533929	P	0.51351	0.944	B	0.41619	0.361	D	0.99663	1.0994	10	0.45353	T	0.12	.	12.4961	0.55929	0.0:0.923:0.0:0.0769	.	848	Q8IWU6	SULF1_HUMAN	F	848	ENSP00000403040:L848F;ENSP00000260128:L848F;ENSP00000385704:L848F;ENSP00000390315:L848F	ENSP00000260128:L848F	L	+	1	0	SULF1	70713638	0.753000	0.28349	0.998000	0.56505	0.922000	0.55478	1.886000	0.39688	2.598000	0.87819	0.585000	0.79938	CTT		0.378	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		22	73	0	0	0	1	0	22	73				
PRAM1	84106	broad.mit.edu	37	19	8564664	8564664	+	Splice_Site	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:8564664C>G	ENST00000423345.4	-	2	548	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	PRAM1_ENST00000255612.3_Splice_Site_p.E10Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	10					integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TGATGGCTCTCCTAGGAGACG	0.597																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.e2-1		PML-RARA regulated adaptor molecule 1							13.0	16.0	15.0					19																	8564664		2011	4167	6178	SO:0001630	splice_region_variant	84106						lipid binding|protein binding	g.chr19:8564664C>G	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.28-1G>C	19.37:g.8564664C>G						PRAM1_ENST00000255612.3_Splice_Site_p.E10_splice	p.E10_splice			Q96QH2	PRAM_HUMAN			2	548	-			10					Q8N6W7	Splice_Site	SNP	ENST00000423345.4	37	c.27_splice	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656081	0.29425	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.15952	2.38;2.38	5.25	4.18	0.49190	.	0.666655	0.12463	N	0.466738	T	0.25644	0.0624	L	0.54323	1.7	0.23555	N	0.997424	D;P	0.58620	0.983;0.891	P;B	0.53649	0.731;0.244	T	0.06162	-1.0842	10	0.30078	T	0.28	.	9.0227	0.36209	0.1639:0.6773:0.1588:0.0	.	10;10	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	Q	10	ENSP00000255612:E10Q;ENSP00000408342:E10Q	ENSP00000255612:E10Q	E	-	1	0	PRAM1	8470664	0.756000	0.28383	0.997000	0.53966	0.616000	0.37450	1.024000	0.30077	2.467000	0.83353	0.579000	0.79373	GAG		0.597	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152	Missense_Mutation	4	17	0	0	0	1	0	4	17				
ZNF445	353274	broad.mit.edu	37	3	44489429	44489429	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:44489429G>A	ENST00000396077.2	-	8	2081	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L	ZNF445_ENST00000425708.2_Silent_p.L578L	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	578					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(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGCTGTAGGTGAGAGCTGCCC	0.468																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(1732-1734)ctC>ctT		zinc finger protein 445							83.0	87.0	86.0					3																	44489429		2203	4300	6503	SO:0001819	synonymous_variant	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44489429G>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1734C>T	3.37:g.44489429G>A						ZNF445_ENST00000396077.2_Silent_p.L578L	p.L578L			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	2075	-			578					Q3MJD1	Silent	SNP	ENST00000396077.2	37	c.1734C>T	CCDS2713.1																																																																																				0.468	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		23	59	0	0	0	1	0	23	59				
ADAMTSL4	54507	broad.mit.edu	37	1	150529266	150529266	+	Silent	SNP	C	C	G	rs199966387		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150529266C>G	ENST00000369038.2	+	8	1947	c.1746C>G	c.(1744-1746)gtC>gtG	p.V582V	ADAMTSL4_ENST00000271643.4_Silent_p.V582V|ADAMTSL4_ENST00000369041.5_Silent_p.V582V|ADAMTSL4_ENST00000369039.5_Silent_p.V605V|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	582					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGTGGATGTCTATGTGAGCC	0.637																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1744-1746)gtC>gtG		ADAMTS-like 4							84.0	99.0	93.0					1																	150529266		2203	4300	6503	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150529266C>G	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1746C>G	1.37:g.150529266C>G						RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.V582V|ADAMTSL4_ENST00000369039.5_Silent_p.V605V|ADAMTSL4_ENST00000369041.5_Silent_p.V582V	p.V582V	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1982	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		582					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.1746C>G	CCDS955.1																																																																																				0.637	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		37	129	0	0	0	1	0	37	129				
BECN1	8678	broad.mit.edu	37	17	40970304	40970304	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:40970304C>G	ENST00000361523.4	-	7	750	c.618G>C	c.(616-618)aaG>aaC	p.K206N	BECN1_ENST00000438274.3_Missense_Mutation_p.K130N|BECN1_ENST00000590099.1_Missense_Mutation_p.K206N	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	206					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTGCCACTATCTTGCGGTTCT	0.517																																						ENST00000361523.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(616-618)aaG>aaC		beclin 1, autophagy related							216.0	197.0	204.0					17																	40970304		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40970304C>G	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.618G>C	17.37:g.40970304C>G	ENSP00000355231:p.Lys206Asn					BECN1_ENST00000590099.1_Missense_Mutation_p.K206N|BECN1_ENST00000438274.3_Missense_Mutation_p.K130N	p.K206N	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	7	750	-		Breast(137;0.00104)	206					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.618G>C	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	4.479	0.088745	0.08583	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.44881	0.91;1.61	6.03	1.21	0.21127	.	0.344191	0.36628	N	0.002488	T	0.25791	0.0628	L	0.27053	0.805	0.09310	N	1	B;B	0.26635	0.155;0.001	B;B	0.24006	0.05;0.007	T	0.17592	-1.0364	10	0.18276	T	0.48	.	11.2115	0.48802	0.0:0.6979:0.0:0.3021	.	130;206	E7EV84;Q14457	.;BECN1_HUMAN	N	206;130;119	ENSP00000355231:K206N;ENSP00000416173:K130N	ENSP00000355231:K206N	K	-	3	2	BECN1	38223830	0.055000	0.20627	0.008000	0.14137	0.214000	0.24535	0.496000	0.22499	0.387000	0.25024	0.655000	0.94253	AAG		0.517	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		44	119	0	0	0	1	0	44	119				
STX1A	6804	broad.mit.edu	37	7	73118703	73118703	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:73118703C>A	ENST00000222812.3	-	5	360	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	STX1A_ENST00000395156.3_Missense_Mutation_p.D112Y|WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395155.3_Missense_Mutation_p.D112Y|STX1A_ENST00000395154.3_Missense_Mutation_p.D112Y	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	112					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				ATCCTCAGGTCAGCGGAGGAG	0.652																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(334-336)Gac>Tac		syntaxin 1A (brain)							76.0	62.0	67.0					7																	73118703		2203	4300	6503	SO:0001583	missense	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73118703C>A		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.334G>T	7.37:g.73118703C>A	ENSP00000222812:p.Asp112Tyr					WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Missense_Mutation_p.D112Y|STX1A_ENST00000395155.3_Missense_Mutation_p.D112Y|STX1A_ENST00000395156.3_Missense_Mutation_p.D112Y	p.D112Y	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			5	360	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	112					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	c.334G>T	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855931	0.91355	.	.	ENSG00000106089	ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.71	4.71	0.59529	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	M	0.81239	2.535	0.80722	D	1	B;P;B	0.52061	0.267;0.95;0.322	B;B;B	0.40038	0.258;0.317;0.264	T	0.37478	-0.9704	10	0.72032	D	0.01	-40.9713	15.1884	0.73023	0.0:1.0:0.0:0.0	.	112;112;112	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	Y	112	ENSP00000222812:D112Y;ENSP00000378585:D112Y;ENSP00000378583:D112Y;ENSP00000378584:D112Y	ENSP00000222812:D112Y	D	-	1	0	STX1A	72756639	1.000000	0.71417	0.946000	0.38457	0.903000	0.53119	7.410000	0.80065	2.458000	0.83093	0.462000	0.41574	GAC		0.652	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		10	54	1	0	1.58986e-06	1	1.63449e-06	10	54				
UBE3A	7337	broad.mit.edu	37	15	25615787	25615787	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:25615787G>C	ENST00000397954.2	-	4	1542	c.1543C>G	c.(1543-1545)Caa>Gaa	p.Q515E	UBE3A_ENST00000566215.1_Missense_Mutation_p.Q492E|UBE3A_ENST00000438097.1_Missense_Mutation_p.Q492E|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000232165.3_Missense_Mutation_p.Q512E|UBE3A_ENST00000428984.2_Missense_Mutation_p.Q492E			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	515	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGCTGTCCTTGAACTAAGCTG	0.373																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1534-1536)Caa>Gaa		ubiquitin protein ligase E3A							116.0	107.0	110.0					15																	25615787		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25615787G>C	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1543C>G	15.37:g.25615787G>C	ENSP00000381045:p.Gln515Glu					UBE3A_ENST00000397954.2_Missense_Mutation_p.Q515E|UBE3A_ENST00000566215.1_Missense_Mutation_p.Q492E|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.Q492E|UBE3A_ENST00000428984.2_Missense_Mutation_p.Q492E	p.Q512E	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	2190	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	515			Interaction with HCV core protein.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.1534C>G	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191470	0.38707	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	L	0.31476	0.935	0.80722	D	1	P;P	0.50943	0.94;0.92	P;B	0.44946	0.465;0.345	T	0.64322	-0.6435	10	0.02654	T	1	.	18.9943	0.92806	0.0:0.0:1.0:0.0	.	512;515	Q05086-3;Q05086	.;UBE3A_HUMAN	E	512;512;515;492;492	ENSP00000232165:Q512E;ENSP00000381045:Q515E;ENSP00000411258:Q492E;ENSP00000401265:Q492E	ENSP00000232165:Q512E	Q	-	1	0	UBE3A	23166880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.501000	0.84356	0.591000	0.81541	CAA		0.373	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		47	123	0	0	0	1	0	47	123				
ZNF202	7753	broad.mit.edu	37	11	123601509	123601509	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:123601509G>A	ENST00000529691.1	-	2	307	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	ZNF202_ENST00000336139.4_Missense_Mutation_p.R30W|ZNF202_ENST00000530393.1_Missense_Mutation_p.R30W			O95125	ZN202_HUMAN	zinc finger protein 202	30					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GACTCTGGCCGACAGGTGAAA	0.542																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(88-90)Cgg>Tgg		zinc finger protein 202							97.0	100.0	99.0					11																	123601509		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601509G>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.88C>T	11.37:g.123601509G>A	ENSP00000433881:p.Arg30Trp					ZNF202_ENST00000529691.1_Missense_Mutation_p.R30W|ZNF202_ENST00000530393.1_Missense_Mutation_p.R30W	p.R30W			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	3	450	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	30					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.88C>T	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883169	0.51908	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463;ENST00000528306	T;T;T;T	0.06371	3.31;3.31;3.31;3.33	4.7	-6.55	0.01854	.	0.248786	0.28425	N	0.015391	T	0.02193	0.0068	N	0.08118	0	0.27152	N	0.961391	B	0.16802	0.019	B	0.10450	0.005	T	0.24693	-1.0153	10	0.59425	D	0.04	-3.9703	3.8817	0.09080	0.1145:0.1658:0.5104:0.2093	.	30	O95125	ZN202_HUMAN	W	30	ENSP00000337724:R30W;ENSP00000432504:R30W;ENSP00000433881:R30W;ENSP00000431223:R30W	ENSP00000337724:R30W	R	-	1	2	ZNF202	123106719	0.002000	0.14202	0.697000	0.30258	0.993000	0.82548	-0.610000	0.05629	-1.560000	0.01686	-0.376000	0.06991	CGG		0.542	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		23	60	0	0	0	1	0	23	60				
BRINP2	57795	broad.mit.edu	37	1	177249839	177249839	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:177249839G>A	ENST00000361539.4	+	8	1839	c.1527G>A	c.(1525-1527)ttG>ttA	p.L509L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	509					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)	extracellular region (GO:0005576)											AGACAGACTTGCAGGACCTGG	0.592																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1525-1527)ttG>ttA									34.0	35.0	35.0					1																	177249839		2203	4300	6503	SO:0001819	synonymous_variant	57795					extracellular region		g.chr1:177249839G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1527G>A	1.37:g.177249839G>A						FAM5B_ENST00000478325.1_3'UTR	p.L509L	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			8	1839	+			509					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.1527G>A	CCDS1320.1																																																																																				0.592	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		17	36	0	0	0	1	0	17	36				
MAP10	54627	broad.mit.edu	37	1	232943324	232943324	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:232943324C>G	ENST00000418460.1	+	1	2682	c.2555C>G	c.(2554-2556)tCt>tGt	p.S852C		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	710	Ser-rich.				cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CCTTGCTATTCTGAAGATTTC	0.373																																						ENST00000418460.1																			0											c.(2554-2556)tCt>tGt		microtubule-associated protein 10							38.0	36.0	37.0					1																	232943324		1857	4097	5954	SO:0001583	missense	54627							g.chr1:232943324C>G	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2555C>G	1.37:g.232943324C>G	ENSP00000403208:p.Ser852Cys						p.S852C	NM_019090.2	NP_061963.2					1	2682	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.2555C>G	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021944	0.54576	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.58	4.67	0.58626	.	0.000000	0.38164	U	0.001781	T	0.77405	0.4125	M	0.71581	2.175	0.41991	D	0.990849	D	0.89917	1.0	D	0.81914	0.995	T	0.80529	-0.1342	9	0.72032	D	0.01	-13.4712	14.3188	0.66470	0.0:0.9283:0.0:0.0717	.	710	Q9P2G4	K1383_HUMAN	C	852	.	ENSP00000403208:S852C	S	+	2	0	KIAA1383	231009947	1.000000	0.71417	0.995000	0.50966	0.663000	0.39108	3.798000	0.55522	1.343000	0.45638	0.591000	0.81541	TCT		0.373	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		10	25	0	0	0	1	0	10	25				
SIRPB1	10326	broad.mit.edu	37	20	1592215	1592215	+	Intron	SNP	C	C	G	rs41289057	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:1592215C>G	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.G74A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.G74A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAATTCCCGGCCTGGTCCAGC	0.522													c|||	3213	0.641573	0.7254	0.5029	5008	,	,		7138	0.7351		0.4781	False		,,,				2504	0.6984					ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(220-222)gGc>gCc		signal-regulatory protein beta 1							66.0	79.0	75.0					20																	1592215		452	1342	1794	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592215C>G	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8299G>C	20.37:g.1592215C>G						SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Missense_Mutation_p.G74A|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	p.G74A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	285	-			74			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.221G>C	CCDS13019.1	821	0.3759157509157509	204	0.4146341463414634	117	0.32320441988950277	293	0.5122377622377622	207	0.27308707124010556	.	5.490	0.275498	0.10403	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.66995	-0.24	2.75	-5.49	0.02584	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00012	0.0000	L	0.52905	1.665	0.80722	P	0.0	B	0.09022	0.002	B	0.13407	0.009	T	0.35151	-0.9800	8	0.36615	T	0.2	.	9.7994	0.40755	0.0:0.6565:0.0:0.3435	rs41289057	74	Q5TFQ8	SIRBL_HUMAN	A	74	ENSP00000279477:G74A	ENSP00000279477:G74A	G	-	2	0	SIRPB1	1540215	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.679000	0.01940	-1.538000	0.01734	-0.474000	0.04947	GGC		0.522	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		13	124	0	0	0	1	0	13	124				
CFAP43	80217	broad.mit.edu	37	10	105927438	105927438	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:105927438C>G	ENST00000278064.2	-	22	2867	c.2542G>C	c.(2542-2544)Gag>Cag	p.E848Q	WDR96_ENST00000428666.1_Missense_Mutation_p.E918Q|WDR96_ENST00000357060.3_Missense_Mutation_p.E917Q																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTTTCAGCTCTTCAACCGTG	0.358																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2749-2751)Gag>Cag		WD repeat domain 96							107.0	110.0	109.0					10																	105927438		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105927438C>G																												ENST00000278064.2:c.2542G>C	10.37:g.105927438C>G	ENSP00000278064:p.Glu848Gln					WDR96_ENST00000278064.2_Missense_Mutation_p.E848Q|WDR96_ENST00000428666.1_Missense_Mutation_p.E918Q	p.E917Q	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			22	2864	-			917						Missense_Mutation	SNP	ENST00000278064.2	37	c.2749G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.63|19.63	3.864504|3.864504	0.71949|0.71949	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064|ENST00000434629	T;T;T|.	0.22743|.	2.24;2.25;1.94|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.128441|.	0.52532|.	D|.	0.000067|.	T|T	0.76659|0.76659	0.4018|0.4018	M|M	0.72894|0.72894	2.215|2.215	0.48236|0.48236	D|D	0.999615|0.999615	D;D;D|.	0.89917|.	0.981;1.0;1.0|.	D;D;D|.	0.87578|.	0.936;0.998;0.995|.	T|T	0.74757|0.74757	-0.3557|-0.3557	10|5	0.72032|.	D|.	0.01|.	.|.	19.5353|19.5353	0.95251|0.95251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	918;918;917|.	G5E9L1;B4DHB6;Q8NDM7|.	.;.;WDR96_HUMAN|.	Q|N	917;918;848|277	ENSP00000349568:E917Q;ENSP00000400289:E918Q;ENSP00000278064:E848Q|.	ENSP00000278064:E848Q|.	E|K	-|-	1|3	0|2	WDR96|WDR96	105917428|105917428	1.000000|1.000000	0.71417|0.71417	0.660000|0.660000	0.29694|0.29694	0.340000|0.340000	0.28889|0.28889	5.566000|5.566000	0.67372|0.67372	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	GAG|AAG		0.358	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			27	72	0	0	0	1	0	27	72				
HDGF	3068	broad.mit.edu	37	1	156721214	156721214	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:156721214C>T	ENST00000357325.5	-	1	322	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	HDGF_ENST00000416666.2_5'Flank|HDGF_ENST00000537739.1_Missense_Mutation_p.R3Q|HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368209.5_Intron|PRCC_ENST00000491853.1_Intron|HDGF_ENST00000368206.5_Intron	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	3					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CCGGTTGGATCGCGACATggc	0.751																																						ENST00000357325.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(7-9)cGa>cAa		hepatoma-derived growth factor							30.0	29.0	29.0					1																	156721214		2203	4299	6502	SO:0001583	missense	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156721214C>T	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.8G>A	1.37:g.156721214C>T	ENSP00000349878:p.Arg3Gln					HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368206.5_Intron|HDGF_ENST00000368209.5_Intron|PRCC_ENST00000491853.1_Intron|HDGF_ENST00000537739.1_Missense_Mutation_p.R3Q	p.R3Q	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	1	322	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	3					B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	c.8G>A	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025416	0.54683	.	.	ENSG00000143321	ENST00000357325;ENST00000537739;ENST00000406805	T;T	0.26660	1.72;1.72	3.63	1.72	0.24424	.	.	.	.	.	T	0.16557	0.0398	L	0.58101	1.795	0.80722	D	1	D;P	0.64830	0.994;0.86	P;B	0.48166	0.569;0.115	T	0.02471	-1.1154	9	0.87932	D	0	.	7.6135	0.28144	0.0:0.7785:0.0:0.2215	.	3;3	B2RDE8;P51858	.;HDGF_HUMAN	Q	3	ENSP00000349878:R3Q;ENSP00000443120:R3Q	ENSP00000349878:R3Q	R	-	2	0	HDGF	154987838	0.997000	0.39634	0.180000	0.23079	0.003000	0.03518	3.076000	0.50081	0.179000	0.19938	-0.237000	0.12165	CGA		0.751	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		4	16	0	0	0	1	0	4	16				
UGT1A5	54579	broad.mit.edu	37	2	234621862	234621862	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:234621862C>T	ENST00000373414.3	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Silent_p.F75F|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	75						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		AGAACTTTTTCACCCTGACAA	0.502																																						ENST00000373414.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22						c.(223-225)ttC>ttT									104.0	96.0	99.0					2																	234621862		2203	4300	6503	SO:0001819	synonymous_variant	54579							g.chr2:234621862C>T	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.225C>T	2.37:g.234621862C>T						UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000373445.1_Intron	p.F75F	NM_019078.1	NP_061951.1				Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	225	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K294	Silent	SNP	ENST00000373414.3	37	c.225C>T	CCDS33404.1																																																																																				0.502	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		35	135	0	0	0	1	0	35	135				
TESK2	10420	broad.mit.edu	37	1	45851629	45851629	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:45851629G>T	ENST00000372086.3	-	4	748	c.348C>A	c.(346-348)ttC>ttA	p.F116L	TESK2_ENST00000486676.1_Intron|TESK2_ENST00000372084.1_Missense_Mutation_p.F116L|TESK2_ENST00000538496.1_Missense_Mutation_p.F33L|TESK2_ENST00000341771.6_Missense_Mutation_p.F116L	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|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)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATACACCCATGAACCTAAAGA	0.338																																						ENST00000372086.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(346-348)ttC>ttA		testis-specific kinase 2							122.0	107.0	112.0					1																	45851629		1894	4123	6017	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45851629G>T	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.348C>A	1.37:g.45851629G>T	ENSP00000361158:p.Phe116Leu					TESK2_ENST00000372084.1_Missense_Mutation_p.F116L|TESK2_ENST00000341771.6_Missense_Mutation_p.F116L|TESK2_ENST00000538496.1_Missense_Mutation_p.F33L|TESK2_ENST00000486676.1_Intron	p.F116L	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN			4	748	-	Acute lymphoblastic leukemia(166;0.155)		116			Protein kinase.		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.348C>A	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641945	0.67244	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000341771;ENST00000538496	D;T;D;T	0.85773	-2.03;0.49;-2.03;0.49	5.52	4.61	0.57282	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.256178	0.34652	N	0.003790	T	0.80160	0.4572	N	0.16130	0.375	0.80722	D	1	P;B	0.36837	0.571;0.364	B;P	0.48770	0.377;0.589	T	0.80238	-0.1465	10	0.62326	D	0.03	-3.6393	8.5526	0.33460	0.1742:0.0:0.8258:0.0	.	116;116	Q96S53-3;Q96S53	.;TESK2_HUMAN	L	116;116;116;33	ENSP00000361156:F116L;ENSP00000361158:F116L;ENSP00000343940:F116L;ENSP00000441746:F33L	ENSP00000343940:F116L	F	-	3	2	TESK2	45624216	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.938000	0.40203	1.329000	0.45376	0.655000	0.94253	TTC		0.338	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		17	64	1	0	1.62849e-17	1	1.7393e-17	17	64				
CERS3	204219	broad.mit.edu	37	15	100943013	100943013	+	Missense_Mutation	SNP	C	C	T	rs541833197	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:100943013C>T	ENST00000394113.1	-	14	1747	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000538112.2_Missense_Mutation_p.E353K|CERS3_ENST00000284382.4_Missense_Mutation_p.E353K|CERS3_ENST00000560944.1_5'UTR|RP11-168G16.2_ENST00000560718.1_RNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3	353	Poly-Glu.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										Gcctcttcttcttcctcttcc	0.488																																						ENST00000284382.4																			0											c.(1057-1059)Gaa>Aaa		ceramide synthase 3							132.0	100.0	111.0					15																	100943013		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:100943013C>T		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.1057G>A	15.37:g.100943013C>T	ENSP00000377672:p.Glu353Lys					CERS3_ENST00000394113.1_Missense_Mutation_p.E353K|RP11-168G16.2_ENST00000560643.1_RNA|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000538112.2_Missense_Mutation_p.E353K|CERS3_ENST00000560944.1_5'UTR	p.E353K	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN			13	1480	-			353			Poly-Glu.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.1057G>A	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	7.942	0.743049	0.15642	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.06933	3.24;3.24	5.33	5.33	0.75918	.	3.481150	0.01285	N	0.009878	T	0.13586	0.0329	M	0.68952	2.095	0.09310	N	0.999999	P	0.46784	0.884	B	0.37731	0.257	T	0.51020	-0.8758	10	0.09338	T	0.73	-15.0876	14.5258	0.67887	0.0:1.0:0.0:0.0	.	353	Q8IU89	CERS3_HUMAN	K	353;364;353	ENSP00000284382:E353K;ENSP00000437640:E353K	ENSP00000284382:E353K	E	-	1	0	CERS3	98760536	0.000000	0.05858	0.233000	0.24025	0.018000	0.09664	-1.086000	0.03386	2.493000	0.84123	0.643000	0.83706	GAA		0.488	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		11	34	0	0	0	1	0	11	34				
EMILIN1	11117	broad.mit.edu	37	2	27306410	27306410	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:27306410C>G	ENST00000380320.4	+	4	2470	c.1971C>G	c.(1969-1971)ctC>ctG	p.L657L		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	657					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCTCCCTCAATGACTCAC	0.587																																						ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(1969-1971)ctC>ctG		elastin microfibril interfacer 1							42.0	43.0	43.0					2																	27306410		2203	4300	6503	SO:0001819	synonymous_variant	11117				cell adhesion	collagen		g.chr2:27306410C>G	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1971C>G	2.37:g.27306410C>G							p.L657L	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			4	2470	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		657					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Silent	SNP	ENST00000380320.4	37	c.1971C>G	CCDS1733.1																																																																																				0.587	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		15	56	0	0	0	1	0	15	56				
WIPI1	55062	broad.mit.edu	37	17	66429704	66429704	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:66429704G>A	ENST00000262139.5	-	8	704	c.705C>T	c.(703-705)atC>atT	p.I235I	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.I153I	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	235					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CTAGAGAGCTGATTGTCACAT	0.453																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(703-705)atC>atT		WD repeat domain, phosphoinositide interacting 1							138.0	99.0	112.0					17																	66429704		2203	4300	6503	SO:0001819	synonymous_variant	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66429704G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.705C>T	17.37:g.66429704G>A						WIPI1_ENST00000546360.1_Silent_p.I153I|WIPI1_ENST00000589459.1_5'UTR	p.I235I	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			8	704	-			235					Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	c.705C>T	CCDS11677.1																																																																																				0.453	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		11	48	0	0	0	1	0	11	48				
NR4A2	4929	broad.mit.edu	37	2	157182274	157182274	+	Silent	SNP	C	C	T	rs141522485		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:157182274C>T	ENST00000339562.4	-	8	2141	c.1779G>A	c.(1777-1779)ctG>ctA	p.L593L	NR4A2_ENST00000429376.1_3'UTR|NR4A2_ENST00000539077.1_Silent_p.L604L|NR4A2_ENST00000409572.1_Silent_p.L593L|NR4A2_ENST00000409108.2_3'UTR|NR4A2_ENST00000426264.1_Silent_p.L530L	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	593					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GTAAAGTGTCCAGGAAAAGTT	0.473																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1777-1779)ctG>ctA		nuclear receptor subfamily 4, group A, member 2		C		1,4405		0,1,2202	107.0	110.0	109.0		1779	6.1	1.0	2	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	NR4A2	NM_006186.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		593/599	157182274	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182274C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1779G>A	2.37:g.157182274C>T						NR4A2_ENST00000409572.1_Silent_p.L593L|NR4A2_ENST00000409108.2_3'UTR|NR4A2_ENST00000429376.1_3'UTR|NR4A2_ENST00000539077.1_Silent_p.L604L|NR4A2_ENST00000426264.1_Silent_p.L530L	p.L593L	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			8	2141	-			593					Q16311|Q53RZ2|Q6NXU0	Silent	SNP	ENST00000339562.4	37	c.1779G>A	CCDS2201.1																																																																																				0.473	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			34	103	0	0	0	1	0	34	103				
KIAA2026	158358	broad.mit.edu	37	9	5988525	5988525	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:5988525G>A	ENST00000399933.3	-	2	613	c.614C>T	c.(613-615)aCg>aTg	p.T205M	KIAA2026_ENST00000381461.2_Missense_Mutation_p.T205M	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	205										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACTGCTATCGTTGTCTTTTC	0.448																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(613-615)aCg>aTg		KIAA2026							87.0	81.0	83.0					9																	5988525		1879	4118	5997	SO:0001583	missense	158358							g.chr9:5988525G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.614C>T	9.37:g.5988525G>A	ENSP00000382815:p.Thr205Met					KIAA2026_ENST00000381461.2_Missense_Mutation_p.T205M	p.T205M	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	2	613	-		Acute lymphoblastic leukemia(23;0.158)	205					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.614C>T		.	.	.	.	.	.	.	.	.	.	G	24.1	4.488930	0.84962	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	4.68	4.68	0.58851	.	0.142348	0.30584	U	0.009306	T	0.59569	0.2203	N	0.22421	0.69	0.34068	D	0.658079	D	0.89917	1.0	D	0.65773	0.938	T	0.72060	-0.4404	9	0.72032	D	0.01	.	17.937	0.89015	0.0:0.0:1.0:0.0	.	205	Q5HYC2	K2026_HUMAN	M	205	.	ENSP00000370870:T205M	T	-	2	0	KIAA2026	5978525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.235000	0.89803	2.309000	0.77851	0.484000	0.47621	ACG		0.448	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		4	122	0	0	0	1	0	4	122				
DAPL1	92196	broad.mit.edu	37	2	159672323	159672323	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:159672323G>A	ENST00000309950.3	+	4	370	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	105					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						CAGCAGCCTCGAAAATGTTAA	0.463																																						ENST00000309950.3																			0				prostate(1)	1						c.(313-315)cGa>cAa		death associated protein-like 1							91.0	84.0	86.0					2																	159672323		2203	4300	6503	SO:0001583	missense	92196				apoptosis|cell differentiation			g.chr2:159672323G>A		CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000309950.3:c.314G>A	2.37:g.159672323G>A	ENSP00000309538:p.Arg105Gln					DAPL1_ENST00000409042.1_Intron	p.R105Q	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN			4	370	+			105					A0PJW9|B9EIK6	Missense_Mutation	SNP	ENST00000309950.3	37	c.314G>A	CCDS33307.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405549	0.83230	.	.	ENSG00000163331	ENST00000309950	T	0.42131	0.98	5.58	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	M	0.89968	3.075	0.80722	D	1	B	0.31318	0.319	B	0.19946	0.027	T	0.50154	-0.8861	10	0.72032	D	0.01	.	8.9434	0.35745	0.0783:0.0:0.7738:0.148	.	105	A0PJW8	DAPL1_HUMAN	Q	105	ENSP00000309538:R105Q	ENSP00000309538:R105Q	R	+	2	0	DAPL1	159380569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.947000	0.70242	0.720000	0.32209	0.563000	0.77884	CGA		0.463	DAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333265.1	NM_001017920		28	97	0	0	0	1	0	28	97				
ADCY8	114	broad.mit.edu	37	8	131793005	131793005	+	Silent	SNP	C	C	T	rs564497019	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:131793005C>T	ENST00000286355.5	-	18	5479	c.3387G>A	c.(3385-3387)cgG>cgA	p.R1129R	ADCY8_ENST00000377928.3_Silent_p.R998R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1129					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGACTTGGATCCGGCCACTAA	0.527										HNSCC(32;0.087)			C|||	4	0.000798722	0.0	0.0	5008	,	,		19134	0.0		0.0	False		,,,				2504	0.0041					ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(3385-3387)cgG>cgA		adenylate cyclase 8 (brain)							132.0	132.0	132.0					8																	131793005		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131793005C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3387G>A	8.37:g.131793005C>T		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.R998R	p.R1129R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		18	5479	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1129						Silent	SNP	ENST00000286355.5	37	c.3387G>A	CCDS6363.1																																																																																				0.527	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			37	135	0	0	0	1	0	37	135				
OR1F1	4992	broad.mit.edu	37	16	3254586	3254586	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3254586C>T	ENST00000304646.2	+	1	340	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	114					signal transduction (GO:0007165)	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(1)|large_intestine(2)|lung(7)	11						GGACAATTTCCTCCTAGCTGT	0.507																																						ENST00000304646.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						c.(340-342)Ctc>Ttc		olfactory receptor, family 1, subfamily F, member 1							239.0	196.0	211.0					16																	3254586		2197	4300	6497	SO:0001583	missense	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254586C>T	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.340C>T	16.37:g.3254586C>T	ENSP00000305424:p.Leu114Phe					AJ003147.9_ENST00000576468.1_RNA	p.L114F	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN			1	340	+			114					O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.340C>T	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465577	0.43839	.	.	ENSG00000168124	ENST00000304646	T	0.02737	4.18	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000126	T	0.10165	0.0249	M	0.88105	2.93	0.31992	N	0.604511	P	0.37061	0.58	B	0.40134	0.32	T	0.01287	-1.1395	10	0.87932	D	0	.	16.3652	0.83317	0.0:1.0:0.0:0.0	.	114	O43749	OR1F1_HUMAN	F	114	ENSP00000305424:L114F	ENSP00000305424:L114F	L	+	1	0	OR1F1	3194587	0.006000	0.16342	1.000000	0.80357	0.862000	0.49288	0.323000	0.19593	2.456000	0.83038	0.393000	0.25936	CTC		0.507	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			45	204	0	0	0	1	0	45	204				
SULF2	55959	broad.mit.edu	37	20	46311796	46311796	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:46311796C>G	ENST00000359930.4	-	7	1857	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	SULF2_ENST00000484875.1_Missense_Mutation_p.E336Q|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.E336Q|SULF2_ENST00000467815.1_Missense_Mutation_p.E336Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	336					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						ATGTCAAACTCATATGGCATG	0.597																																						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.(1006-1008)Gag>Cag		sulfatase 2							98.0	74.0	83.0					20																	46311796		2203	4300	6503	SO:0001583	missense	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.chr20:46311796C>G	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.1006G>C	20.37:g.46311796C>G	ENSP00000353007:p.Glu336Gln					SULF2_ENST00000484875.1_Missense_Mutation_p.E336Q|SULF2_ENST00000467815.1_Missense_Mutation_p.E336Q|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.E336Q	p.E336Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			7	1857	-			336					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1006G>C	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.304254	0.81136	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	4.85	4.85	0.62838	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.046217	0.85682	D	0.000000	D	0.98798	0.9595	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	0.971;1.0	P;D	0.91635	0.779;0.999	D	0.99589	1.0975	10	0.72032	D	0.01	-29.4562	18.567	0.91120	0.0:1.0:0.0:0.0	.	336;336	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	Q	336	ENSP00000353007:E336Q;ENSP00000418290:E336Q;ENSP00000354662:E336Q;ENSP00000418442:E336Q	ENSP00000353007:E336Q	E	-	1	0	SULF2	45745203	1.000000	0.71417	0.981000	0.43875	0.377000	0.30045	7.606000	0.82863	2.695000	0.91970	0.537000	0.68136	GAG		0.597	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		24	37	0	0	0	1	0	24	37				
ZC2HC1C	79696	broad.mit.edu	37	14	75538544	75538544	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:75538544C>T	ENST00000524913.1	+	2	1757	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	ZC2HC1C_ENST00000526748.1_Intron|ACYP1_ENST00000555463.1_5'Flank|ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000238686.8_Intron	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	423							metal ion binding (GO:0046872)										GTGTTTGACTCCTCCAGGGCC	0.552																																						ENST00000524913.1																			0											c.(1267-1269)tCc>tTc		zinc finger, C2HC-type containing 1C							41.0	44.0	43.0					14																	75538544		1933	4128	6061	SO:0001583	missense	79696							g.chr14:75538544C>T	AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"""Zinc fingers, C2HC-type containing"""	20354	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 140"", ""family with sequence similarity 164, member C"""	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.1268C>T	14.37:g.75538544C>T	ENSP00000435550:p.Ser423Phe					ZC2HC1C_ENST00000238686.8_Intron|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Intron	p.S423F	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN			2	1757	+			0					E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	ENST00000524913.1	37	c.1268C>T	CCDS41972.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032783	0.75504	.	.	ENSG00000119703	ENST00000524913	T	0.55234	0.53	5.42	5.42	0.78866	.	0.179734	0.39759	N	0.001275	T	0.78194	0.4245	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.81035	-0.1115	9	.	.	.	-11.5964	19.5868	0.95493	0.0:1.0:0.0:0.0	.	423	E9PJQ0	.	F	423	ENSP00000435550:S423F	.	S	+	2	0	FAM164C	74608297	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	4.475000	0.60210	2.694000	0.91930	0.655000	0.94253	TCC		0.552	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430		21	42	0	0	0	1	0	21	42				
ZBED4	9889	broad.mit.edu	37	22	50278454	50278454	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:50278454G>A	ENST00000216268.5	+	2	1621	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	382						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGTCAGAGAGTCCCCTTC	0.632																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1144-1146)Gag>Aag		zinc finger, BED-type containing 4							52.0	56.0	55.0					22																	50278454		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278454G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1144G>A	22.37:g.50278454G>A	ENSP00000216268:p.Glu382Lys						p.E382K	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1621	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	382					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1144G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644985	0.29246	.	.	ENSG00000100426	ENST00000216268	T	0.52526	0.66	5.18	1.81	0.25067	.	0.056785	0.64402	D	0.000002	T	0.41003	0.1140	L	0.56769	1.78	0.24982	N	0.991598	B	0.18741	0.03	B	0.12837	0.008	T	0.35301	-0.9794	10	0.46703	T	0.11	-11.3054	9.7757	0.40618	0.0743:0.2607:0.665:0.0	.	382	O75132	ZBED4_HUMAN	K	382	ENSP00000216268:E382K	ENSP00000216268:E382K	E	+	1	0	ZBED4	48664458	1.000000	0.71417	0.000000	0.03702	0.066000	0.16364	5.522000	0.67092	0.289000	0.22422	0.655000	0.94253	GAG		0.632	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		16	56	0	0	0	1	0	16	56				
SLC16A12	387700	broad.mit.edu	37	10	91198720	91198720	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:91198720C>G	ENST00000341233.4	-	6	969	c.579G>C	c.(577-579)ttG>ttC	p.L193F	SLC16A12_ENST00000371790.4_Missense_Mutation_p.L223F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TTGGCCTCATCAAGGCACCAC	0.473																																						ENST00000341233.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(577-579)ttG>ttC		solute carrier family 16, member 12							87.0	81.0	83.0					10																	91198720		2203	4300	6503	SO:0001583	missense	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91198720C>G		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.579G>C	10.37:g.91198720C>G	ENSP00000343022:p.Leu193Phe					SLC16A12_ENST00000371790.4_Missense_Mutation_p.L223F	p.L193F	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN			6	969	-			193					Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.579G>C		.	.	.	.	.	.	.	.	.	.	C	18.38	3.611278	0.66558	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.60171	0.21;0.21	5.87	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	M	0.87038	2.855	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.83359	0.0001	10	0.87932	D	0	.	14.732	0.69388	0.0:0.9309:0.0:0.0691	.	193	Q6ZSM3	MOT12_HUMAN	F	193;223	ENSP00000343022:L193F;ENSP00000360855:L223F	ENSP00000343022:L193F	L	-	3	2	SLC16A12	91188700	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.102000	0.41796	1.643000	0.50594	-0.122000	0.15005	TTG		0.473	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		15	59	0	0	0	1	0	15	59				
MYH7	4625	broad.mit.edu	37	14	23901905	23901905	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:23901905C>T	ENST00000355349.3	-	5	607	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	149	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCGGGGCCTCGCTCCTCTTC	0.597																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(445-447)Gag>Aag		myosin, heavy chain 7, cardiac muscle, beta							95.0	91.0	92.0					14																	23901905		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23901905C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.445G>A	14.37:g.23901905C>T	ENSP00000347507:p.Glu149Lys						p.E149K	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	5	607	-	all_cancers(95;2.54e-05)		149			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.445G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.998595	0.74818	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.91464	-2.85	3.61	3.61	0.41365	Myosin head, motor domain (2);	.	.	.	.	D	0.92283	0.7552	M	0.90542	3.125	0.80722	D	1	B	0.20459	0.045	B	0.21708	0.036	D	0.92619	0.6106	9	0.87932	D	0	.	15.807	0.78520	0.0:1.0:0.0:0.0	.	149	P12883	MYH7_HUMAN	K	149	ENSP00000347507:E149K	ENSP00000347507:E149K	E	-	1	0	MYH7	22971745	1.000000	0.71417	0.955000	0.39395	0.886000	0.51366	5.737000	0.68606	2.015000	0.59207	0.455000	0.32223	GAG		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		38	145	0	0	0	1	0	38	145				
MUC4	4585	broad.mit.edu	37	3	195505851	195505851	+	Silent	SNP	T	T	C	rs200522168		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:195505851T>C	ENST00000463781.3	-	2	13059	c.12600A>G	c.(12598-12600)tcA>tcG	p.S4200S	MUC4_ENST00000475231.1_Silent_p.S4200S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGTGT	0.592																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12598-12600)tcA>tcG		mucin 4, cell surface associated							18.0	14.0	15.0					3																	195505851		689	1574	2263	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505851T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12600A>G	3.37:g.195505851T>C						MUC4_ENST00000475231.1_Silent_p.S4200S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.S4200S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13059	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	963					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.12600A>G	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	11	0	0	0	1	0	3	11				
CCDC27	148870	broad.mit.edu	37	1	3683959	3683959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:3683959C>T	ENST00000294600.2	+	10	1777	c.1693C>T	c.(1693-1695)Cag>Tag	p.Q565*		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	565										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGAGATGATTCAGCAGGCAGA	0.627																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(1693-1695)Cag>Tag		coiled-coil domain containing 27							59.0	51.0	54.0					1																	3683959		2203	4300	6503	SO:0001587	stop_gained	148870							g.chr1:3683959C>T		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1693C>T	1.37:g.3683959C>T	ENSP00000294600:p.Gln565*						p.Q565*	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	10	1777	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	565					Q5TBV3|Q96M50	Nonsense_Mutation	SNP	ENST00000294600.2	37	c.1693C>T	CCDS50.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524805	0.64747	.	.	ENSG00000162592	ENST00000294600	.	.	.	5.3	3.38	0.38709	.	0.830764	0.10568	N	0.659490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-9.9449	8.6936	0.34282	0.1724:0.6615:0.166:0.0	.	.	.	.	X	565	.	ENSP00000294600:Q565X	Q	+	1	0	CCDC27	3673819	0.217000	0.23597	0.000000	0.03702	0.000000	0.00434	1.618000	0.36954	0.567000	0.29293	-0.165000	0.13383	CAG		0.627	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		5	30	0	0	0	1	0	5	30				
TRAV39	28642	broad.mit.edu	37	14	22772313	22772313	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:22772313C>G	ENST00000390466.1	+	0	206									T cell receptor alpha variable 39																		GTGTTGCTATCAAATGGAGCA	0.478																																						ENST00000390466.1																			0																				65.0	68.0	67.0					14																	22772313		1977	4163	6140			28642							g.chr14:22772313C>G	AE000661		14q11.2	2012-02-07			ENSG00000211818	ENSG00000211818		"""T cell receptors / TRA locus"""	12139	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV27S1, TCRAV39S1			OTTHUMG00000170839		14.37:g.22772313C>G														0	206	+									RNA	SNP	ENST00000390466.1	37																																																																																						0.478	TRAV39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000410665.1	NG_001332		18	9	0	0	0	1	0	18	9				
EFCAB13	124989	broad.mit.edu	37	17	45479497	45479497	+	Splice_Site	SNP	G	G	A	rs138059918	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:45479497G>A	ENST00000331493.2	+	18	2356		c.e18-1		EFCAB13_ENST00000517484.1_Splice_Site	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13							cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TTTTCTCACAGAAGGTGACAA	0.338																																						ENST00000331493.2																			0											c.e18-1		EF-hand calcium binding domain 13							91.0	94.0	93.0					17																	45479497		2203	4300	6503	SO:0001630	splice_region_variant	124989							g.chr17:45479497G>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1946-1G>A	17.37:g.45479497G>A						EFCAB13_ENST00000517484.1_Splice_Site		NM_152347.4	NP_689560.3					18	2356	+								G3V128|Q49AG9	Splice_Site	SNP	ENST00000331493.2	37		CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238244	0.22711	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	.	.	.	2.71	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.45914	D	0.99875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.7566	0.13086	0.1949:0.0:0.8051:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C17orf57	42834496	0.632000	0.27172	0.197000	0.23402	0.214000	0.24535	1.102000	0.31050	0.436000	0.26393	0.298000	0.19748	.		0.338	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	Intron	15	45	0	0	0	1	0	15	45				
OR4K1	79544	broad.mit.edu	37	14	20404616	20404616	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:20404616G>C	ENST00000285600.4	+	1	850	c.791G>C	c.(790-792)aGa>aCa	p.R264T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCTTTTAGCAGACTTCCTGTG	0.418																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(790-792)aGa>aCa		olfactory receptor, family 4, subfamily K, member 1							126.0	132.0	130.0					14																	20404616		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404616G>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.791G>C	14.37:g.20404616G>C	ENSP00000285600:p.Arg264Thr						p.R264T	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	850	+	all_cancers(95;0.00108)		264					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.791G>C	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	0.022	-1.416900	0.01136	.	.	ENSG00000155249	ENST00000285600	T	0.35789	1.29	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.095428	0.46442	D	0.000291	T	0.11067	0.0270	N	0.01284	-0.91	0.09310	N	1	B	0.14012	0.009	B	0.18263	0.021	T	0.28396	-1.0045	10	0.02654	T	1	.	9.4095	0.38482	0.0948:0.0:0.9052:0.0	.	264	Q8NGD4	OR4K1_HUMAN	T	264	ENSP00000285600:R264T	ENSP00000285600:R264T	R	+	2	0	OR4K1	19474456	0.000000	0.05858	0.973000	0.42090	0.690000	0.40134	0.096000	0.15147	2.644000	0.89710	0.655000	0.94253	AGA		0.418	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			15	325	0	0	0	1	0	15	325				
LRFN4	78999	broad.mit.edu	37	11	66626559	66626559	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:66626559C>G	ENST00000309602.4	+	1	1587	c.1344C>G	c.(1342-1344)atC>atG	p.I448M	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	448	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						AGACCCTCATCTACCGGTGAG	0.657																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(1342-1344)atC>atG		leucine rich repeat and fibronectin type III domain containing 4							56.0	56.0	56.0					11																	66626559		2193	4278	6471	SO:0001583	missense	78999					integral to membrane		g.chr11:66626559C>G	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1344C>G	11.37:g.66626559C>G	ENSP00000312535:p.Ile448Met					LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron	p.I448M	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	1587	+			448			Fibronectin type-III.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1344C>G	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230730	0.39399	.	.	ENSG00000173621	ENST00000309602	T	0.57752	0.38	4.26	1.21	0.21127	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000123	T	0.57873	0.2083	L	0.52011	1.625	0.80722	D	1	D	0.58620	0.983	D	0.65684	0.937	T	0.56275	-0.8006	10	0.72032	D	0.01	.	5.1021	0.14764	0.0:0.481:0.325:0.194	.	448	Q6PJG9	LRFN4_HUMAN	M	448	ENSP00000312535:I448M	ENSP00000312535:I448M	I	+	3	3	LRFN4	66383135	0.412000	0.25392	1.000000	0.80357	0.843000	0.47879	-0.690000	0.05138	0.433000	0.26313	0.462000	0.41574	ATC		0.657	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		28	67	0	0	0	1	0	28	67				
ISG15	9636	broad.mit.edu	37	1	949534	949534	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:949534C>T	ENST00000379389.4	+	2	325	c.174C>T	c.(172-174)gtC>gtT	p.V58V	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	58	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGGACAGGGTCCCCCTTGCCA	0.652																																						ENST00000379389.4																			0				endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(172-174)gtC>gtT		ISG15 ubiquitin-like modifier							45.0	47.0	46.0					1																	949534		2203	4299	6502	SO:0001819	synonymous_variant	9636				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding	g.chr1:949534C>T	BC009507	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608			4053	protein-coding gene	gene with protein product		147571	"""interferon, alpha-inducible protein (clone IFI-15K)"""	G1P2		3087979	Standard	NM_005101		Approved	IFI15, UCRP	uc001acj.4	P05161	OTTHUMG00000040777	ENST00000379389.4:c.174C>T	1.37:g.949534C>T							p.V58V	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	2	325	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	58			Ubiquitin-like 1.		Q5SVA4|Q7Z2G2|Q96GF0	Silent	SNP	ENST00000379389.4	37	c.174C>T	CCDS6.1																																																																																				0.652	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097989.1	NM_005101		14	36	0	0	0	1	0	14	36				
SENP3	26168	broad.mit.edu	37	17	7474754	7474754	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:7474754C>T	ENST00000429205.2	+	12	1727	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C	SENP3_ENST00000321337.7_Missense_Mutation_p.R559C|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|EIF4A1_ENST00000582746.1_5'Flank|EIF4A1_ENST00000577269.1_5'Flank|EIF4A1_ENST00000293831.8_5'Flank|EIF4A1_ENST00000380512.5_5'Flank			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	560						cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GCCCAAACTTCGTCGGCAGAT	0.552																																						ENST00000321337.7																			0				central_nervous_system(1)|ovary(1)	2						c.(1675-1677)Cgt>Tgt		SUMO1/sentrin/SMT3 specific peptidase 3							101.0	101.0	101.0					17																	7474754		1996	4188	6184	SO:0001583	missense	26168				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity	g.chr17:7474754C>T	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.1678C>T	17.37:g.7474754C>T	ENSP00000403712:p.Arg560Cys					SENP3_ENST00000429205.2_Missense_Mutation_p.R560C|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR	p.R559C	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN			12	1995	+		Prostate(122;0.157)	560					Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	ENST00000429205.2	37	c.1675C>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.949281	0.73787	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.75821	-0.64;-0.97	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.87434	0.2390	9	0.87932	D	0	-7.2221	15.6886	0.77430	0.0:1.0:0.0:0.0	.	560	Q9H4L4	SENP3_HUMAN	C	559;560	ENSP00000314029:R559C;ENSP00000403712:R560C	ENSP00000314029:R559C	R	+	1	0	SENP3	7415478	0.642000	0.27260	1.000000	0.80357	0.974000	0.67602	0.922000	0.28734	2.556000	0.86216	0.561000	0.74099	CGT		0.552	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015670		21	52	0	0	0	1	0	21	52				
BUB1B	701	broad.mit.edu	37	15	40512778	40512778	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40512778G>A	ENST00000287598.6	+	23	3166	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	RP11-133K1.2_ENST00000558658.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.E1005K|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	991	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AAAAGATGGTGAATTGTGGAA	0.353			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(2971-2973)Gaa>Aaa		BUB1 mitotic checkpoint serine/threonine kinase B							92.0	95.0	94.0					15																	40512778		2203	4300	6503	SO:0001583	missense	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40512778G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2971G>A	15.37:g.40512778G>A	ENSP00000287598:p.Glu991Lys					PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.E1005K|PAK6_ENST00000453867.1_Intron|RP11-133K1.2_ENST00000558658.1_Intron	p.E991K	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	23	3166	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	991			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.2971G>A	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192603	0.94960	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.17054	2.31;2.3	5.96	5.96	0.96718	.	0.377447	0.28527	N	0.015027	T	0.14614	0.0353	L	0.29908	0.895	0.80722	D	1	P	0.40144	0.704	B	0.32762	0.152	T	0.01858	-1.1259	10	0.66056	D	0.02	-6.3045	18.6025	0.91253	0.0:0.0:1.0:0.0	.	991	O60566	BUB1B_HUMAN	K	991;1005;874	ENSP00000287598:E991K;ENSP00000398470:E1005K	ENSP00000287598:E991K	E	+	1	0	BUB1B	38300070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.008000	0.70739	2.832000	0.97577	0.655000	0.94253	GAA		0.353	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			39	145	0	0	0	1	0	39	145				
SEMA3C	10512	broad.mit.edu	37	7	80418629	80418629	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:80418629G>A	ENST00000265361.3	-	12	1908	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	SEMA3C_ENST00000544525.1_Silent_p.L467L|SEMA3C_ENST00000419255.2_Silent_p.L449L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	449	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.L449L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TACCTGTTCCGAGAAACAGGA	0.393																																						ENST00000265361.3																			1	Substitution - coding silent(1)	p.L449L(1)	lung(1)	NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1345-1347)ctC>ctT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							139.0	131.0	133.0					7																	80418629		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80418629G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1347C>T	7.37:g.80418629G>A						SEMA3C_ENST00000419255.2_Silent_p.L449L|SEMA3C_ENST00000544525.1_Silent_p.L467L	p.L449L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			12	1908	-			449			Sema.		B4DRL8	Silent	SNP	ENST00000265361.3	37	c.1347C>T	CCDS5596.1																																																																																				0.393	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		31	105	0	0	0	1	0	31	105				
PLAGL2	5326	broad.mit.edu	37	20	30784442	30784442	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:30784442C>A	ENST00000246229.4	-	3	1568	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	435					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GACCAGGCCTCCTGTGGCCCC	0.607																																					Colon(163;15 1893 11280 16306 47518)	ENST00000246229.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1303-1305)gGa>gTa		pleiomorphic adenoma gene-like 2							30.0	32.0	31.0					20																	30784442		2203	4300	6503	SO:0001583	missense	5326					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:30784442C>A		CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"""Zinc fingers, C2H2-type"""	9047	protein-coding gene	gene with protein product	"""C2H2-type zinc finger protein"""	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1304G>T	20.37:g.30784442C>A	ENSP00000246229:p.Gly435Val						p.G435V	NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1568	-			435					A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	ENST00000246229.4	37	c.1304G>T	CCDS13197.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581754	0.65992	.	.	ENSG00000126003	ENST00000246229	T	0.48836	0.8	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69595	-0.5103	10	0.87932	D	0	.	18.4893	0.90841	0.0:1.0:0.0:0.0	.	435	Q9UPG8	PLAL2_HUMAN	V	435	ENSP00000246229:G435V	ENSP00000246229:G435V	G	-	2	0	PLAGL2	30248103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.643000	0.83403	2.590000	0.87494	0.650000	0.86243	GGA		0.607	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078615.2	NM_002657		5	101	1	0	0.014758	1	0.0148765	5	101				
ZNF709	163051	broad.mit.edu	37	19	12575149	12575149	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12575149C>T	ENST00000397732.3	-	4	1758	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.E529E	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	529					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)|upper_aerodigestive_tract(3)	6						CATAGGGTTTCTCCCCAGTGT	0.428																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1585-1587)gaG>gaA		zinc finger protein 709							124.0	130.0	128.0					19																	12575149		2202	4300	6502	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575149C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1587G>A	19.37:g.12575149C>T						CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.E529E	p.E529E	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1758	-			529					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1587G>A	CCDS42504.1																																																																																				0.428	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		56	257	0	0	0	1	0	56	257				
SPEN	23013	broad.mit.edu	37	1	16259289	16259289	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16259289C>A	ENST00000375759.3	+	11	6758	c.6554C>A	c.(6553-6555)tCt>tAt	p.S2185Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2185	Interaction with MSX2. {ECO:0000250}.				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 neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGAGGCCTCTGCCTCTGCT	0.622																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6553-6555)tCt>tAt		spen family transcriptional repressor							55.0	54.0	54.0					1																	16259289		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259289C>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6554C>A	1.37:g.16259289C>A	ENSP00000364912:p.Ser2185Tyr						p.S2185Y	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6758	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2185			Interaction with MSX2 (By similarity).		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.6554C>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	5.552	0.286779	0.10513	.	.	ENSG00000065526	ENST00000375759	T	0.09445	2.98	4.42	4.42	0.53409	.	.	.	.	.	T	0.13286	0.0322	L	0.44542	1.39	0.26180	N	0.979748	P	0.49447	0.924	B	0.40782	0.34	T	0.09292	-1.0681	9	0.66056	D	0.02	-1.2301	17.4143	0.87495	0.0:1.0:0.0:0.0	.	2185	Q96T58	MINT_HUMAN	Y	2185	ENSP00000364912:S2185Y	ENSP00000364912:S2185Y	S	+	2	0	SPEN	16131876	0.525000	0.26290	0.009000	0.14445	0.038000	0.13279	4.347000	0.59373	2.164000	0.68074	0.462000	0.41574	TCT		0.622	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		24	77	1	0	2.89027e-11	1	3.03893e-11	24	77				
ERCC6L2	375748	broad.mit.edu	37	9	98728877	98728877	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:98728877G>A	ENST00000288985.7	+	14	2319	c.2014G>A	c.(2014-2016)Gcc>Acc	p.A672T	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.A483T|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	672	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										AAGTGAAAATGCCAAACGATA	0.393																																						ENST00000288985.7																			0											c.(2014-2016)Gcc>Acc		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							137.0	125.0	129.0					9																	98728877		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98728877G>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.2014G>A	9.37:g.98728877G>A	ENSP00000288985:p.Ala672Thr					ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.A483T	p.A672T	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			14	2319	+			672			Helicase C-terminal.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.2014G>A	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588090	0.66105	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	T;T	0.76316	-1.01;-1.01	5.64	5.64	0.86602	Helicase, C-terminal (1);	0.000000	0.49916	D	0.000130	T	0.69070	0.3070	L	0.39085	1.19	0.80722	D	1	P;B	0.38078	0.617;0.085	B;B	0.33960	0.173;0.033	T	0.65734	-0.6096	10	0.19590	T	0.45	-13.8579	19.5025	0.95103	0.0:0.0:1.0:0.0	.	483;672	Q5T890-2;Q5T890	.;RAD26_HUMAN	T	672;483	ENSP00000288985:A672T;ENSP00000416286:A483T	ENSP00000288985:A672T	A	+	1	0	C9orf102	97768698	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.172000	0.71932	2.937000	0.99478	0.650000	0.86243	GCC		0.393	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		27	78	0	0	0	1	0	27	78				
ZBBX	79740	broad.mit.edu	37	3	167016198	167016198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:167016198G>A	ENST00000392766.2	-	18	2114	c.1774C>T	c.(1774-1776)Caa>Taa	p.Q592*	ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q563*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q592*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q592*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q592*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	592						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAAGTCCTTGATATTGTTTT	0.299																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1774-1776)Caa>Taa		zinc finger, B-box domain containing							131.0	132.0	132.0					3																	167016198		1819	4067	5886	SO:0001587	stop_gained	79740					intracellular	zinc ion binding	g.chr3:167016198G>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1774C>T	3.37:g.167016198G>A	ENSP00000376519:p.Gln592*					ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Q563*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Q592*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Q592*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Q592*	p.Q592*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			18	2114	-			592					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	ENST00000392766.2	37	c.1774C>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	40	8.031409	0.98619	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	4.9	4.9	0.64082	.	0.215388	0.39985	N	0.001202	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.2393	13.9234	0.63948	0.0:0.0:1.0:0.0	.	.	.	.	X	592;592;592;592;563	.	ENSP00000305065:Q592X	Q	-	1	0	ZBBX	168498892	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.700000	0.61803	2.416000	0.81992	0.591000	0.81541	CAA		0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		78	155	0	0	0	1	0	78	155				
CELF1	10658	broad.mit.edu	37	11	47494778	47494778	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:47494778C>T	ENST00000358597.3	-	11	1194	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	CELF1_ENST00000531165.1_Missense_Mutation_p.E427K|CELF1_ENST00000361904.3_Missense_Mutation_p.E396K|CELF1_ENST00000310513.5_Missense_Mutation_p.E395K|CELF1_ENST00000395292.2_Missense_Mutation_p.E396K|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000395290.2_Missense_Mutation_p.E398K|CELF1_ENST00000532048.1_Missense_Mutation_p.E425K			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	399					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TTGGCTCCCTCTGGACCTTCA	0.488																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(1192-1194)Gag>Aag		CUGBP, Elav-like family member 1							93.0	86.0	88.0					11																	47494778		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47494778C>T	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1195G>A	11.37:g.47494778C>T	ENSP00000351409:p.Glu399Lys					CELF1_ENST00000395292.2_Missense_Mutation_p.E396K|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000531165.1_Missense_Mutation_p.E427K|CELF1_ENST00000532048.1_Missense_Mutation_p.E425K|CELF1_ENST00000361904.3_Missense_Mutation_p.E396K|CELF1_ENST00000358597.3_Missense_Mutation_p.E399K|CELF1_ENST00000310513.5_Missense_Mutation_p.E395K	p.E398K	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			11	1201	-			399					B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.1192G>A	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	C	36	5.854499	0.97030	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);	0.096973	0.64402	D	0.000002	T	0.76601	0.4010	M	0.72479	2.2	0.80722	D	1	P;P;D;D;P;D	0.56035	0.886;0.886;0.974;0.974;0.886;0.957	D;D;P;P;D;P	0.66351	0.943;0.943;0.859;0.859;0.943;0.86	T	0.75345	-0.3350	10	0.62326	D	0.03	-19.5324	20.8794	0.99867	0.0:1.0:0.0:0.0	.	398;427;425;395;396;399	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	K	398;399;396;395;396;427;425	ENSP00000378705:E398K;ENSP00000351409:E399K;ENSP00000378706:E396K;ENSP00000308386:E395K;ENSP00000354639:E396K;ENSP00000436864:E427K;ENSP00000435926:E425K	ENSP00000308386:E395K	E	-	1	0	CELF1	47451354	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG		0.488	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		16	49	0	0	0	1	0	16	49				
SLC25A16	8034	broad.mit.edu	37	10	70253232	70253232	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:70253232G>A	ENST00000609923.1	-	5	615	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	SLC25A16_ENST00000539557.1_Missense_Mutation_p.H75Y|SLC25A16_ENST00000265870.3_Intron	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	173					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TTGAAAGCATGAATAATTCCT	0.363																																						ENST00000265870.2																			0				endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						c.(517-519)Cat>Tat		solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16							104.0	94.0	97.0					10																	70253232		2203	4300	6503	SO:0001583	missense	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70253232G>A	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.517C>T	10.37:g.70253232G>A	ENSP00000476815:p.His173Tyr					SLC25A16_ENST00000539557.1_Missense_Mutation_p.H75Y|SLC25A16_ENST00000493963.1_5'UTR	p.H173Y	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN			5	615	-			173					Q8N2U1	Missense_Mutation	SNP	ENST00000609923.1	37	c.517C>T	CCDS7280.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677297	0.88445	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	T;T	0.79247	-1.25;-1.25	6.07	6.07	0.98685	Mitochondrial carrier domain (2);	0.049941	0.85682	D	0.000000	D	0.89139	0.6630	M	0.81682	2.555	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.88839	0.3311	10	0.66056	D	0.02	-25.4331	20.6593	0.99626	0.0:0.0:1.0:0.0	.	173	P16260	GDC_HUMAN	Y	173;75	ENSP00000265870:H173Y;ENSP00000443914:H75Y	ENSP00000265870:H173Y	H	-	1	0	SLC25A16	69923238	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.002000	0.70693	2.885000	0.99019	0.655000	0.94253	CAT		0.363	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			18	65	0	0	0	1	0	18	65				
KCTD16	57528	broad.mit.edu	37	5	143586985	143586985	+	Silent	SNP	T	T	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:143586985T>A	ENST00000507359.3	+	2	1799	c.708T>A	c.(706-708)gcT>gcA	p.A236A	KCTD16_ENST00000512467.1_Silent_p.A236A	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	236					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGGAAAGGGCTTTTGATATGT	0.428																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(706-708)gcT>gcA		potassium channel tetramerization domain containing 16							74.0	76.0	75.0					5																	143586985		2203	4300	6503	SO:0001819	synonymous_variant	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586985T>A	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.708T>A	5.37:g.143586985T>A						KCTD16_ENST00000512467.1_Silent_p.A236A	p.A236A	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1799	+		all_hematologic(541;0.118)	236					Q9P2M9	Silent	SNP	ENST00000507359.3	37	c.708T>A	CCDS34260.1																																																																																				0.428	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		4	131	0	0	0	1	0	4	131				
DNAH11	8701	broad.mit.edu	37	7	21765447	21765447	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:21765447G>C	ENST00000409508.3	+	45	7316	c.7285G>C	c.(7285-7287)Gac>Cac	p.D2429H	DNAH11_ENST00000328843.6_Missense_Mutation_p.D2436H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2436					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						TTATCAAGCTGACTTCAGTCG	0.328									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.(7306-7308)Gac>Cac		dynein, axonemal, heavy chain 11							78.0	75.0	76.0					7																	21765447		1821	4079	5900	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.chr7:21765447G>C	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.7285G>C	7.37:g.21765447G>C	ENSP00000475939:p.Asp2429His					DNAH11_ENST00000409508.3_Missense_Mutation_p.D2429H	p.D2436H			Q96DT5	DYH11_HUMAN			46	7337	+			2436					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7306G>C		.	.	.	.	.	.	.	.	.	.	G	15.17	2.754479	0.49362	.	.	ENSG00000105877	ENST00000328843	T	0.24723	1.84	5.69	4.81	0.61882	.	0.100132	0.64402	D	0.000003	T	0.18882	0.0453	.	.	.	0.44207	D	0.997037	B	0.02656	0.0	B	0.08055	0.003	T	0.04053	-1.0981	9	0.15952	T	0.53	.	15.7489	0.77967	0.0:0.1371:0.8629:0.0	.	2436	Q96DT5	DYH11_HUMAN	H	2436	ENSP00000330671:D2436H	ENSP00000330671:D2436H	D	+	1	0	DNAH11	21731972	1.000000	0.71417	0.950000	0.38849	0.972000	0.66771	3.039000	0.49791	1.406000	0.46857	-0.264000	0.10439	GAC		0.328	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	10	0	0	0	1	0	3	10				
GPSM3	63940	broad.mit.edu	37	6	32159206	32159206	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:32159206C>T	ENST00000375040.3	-	4	812	c.420G>A	c.(418-420)ctG>ctA	p.L140L	GPSM3_ENST00000375043.3_Silent_p.L140L|PBX2_ENST00000375050.4_5'Flank|GPSM3_ENST00000487761.1_Silent_p.L137L	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	140	GoLoco 3. {ECO:0000255|PROSITE- ProRule:PRU00097}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cytoplasm (GO:0005737)	GDP-dissociation inhibitor activity (GO:0005092)			large_intestine(1)	1						CCTGAACTCTCAGCAGCAACT	0.652																																						ENST00000375040.3																			0				large_intestine(1)	1						c.(418-420)ctG>ctA		G-protein signaling modulator 3							60.0	67.0	64.0					6																	32159206		2203	4300	6503	SO:0001819	synonymous_variant	63940				signal transduction	cytoplasm	GTPase activator activity|protein binding	g.chr6:32159206C>T	AF155657	CCDS34419.1	6p21.3	2010-06-24	2010-06-24	2004-02-04	ENSG00000213654	ENSG00000213654			13945	protein-coding gene	gene with protein product	"""activator of G-protein signaling 4"""		"""chromosome 6 open reading frame 9"", ""G-protein signalling modulator 3 (AGS3-like, C. elegans)"""	C6orf9		2259622, 15096500	Standard	NM_022107		Approved	NG1, G18, G18.1a, G18.1b, G18.2, AGS4	uc003oaz.3	Q9Y4H4	OTTHUMG00000031244	ENST00000375040.3:c.420G>A	6.37:g.32159206C>T						GPSM3_ENST00000375043.3_Silent_p.L140L|GPSM3_ENST00000487761.1_Silent_p.L137L	p.L140L	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN			4	812	-			140			GoLoco 3.		A2BFJ3	Silent	SNP	ENST00000375040.3	37	c.420G>A	CCDS34419.1																																																																																				0.652	GPSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076509.1	NM_022107		23	73	0	0	0	1	0	23	73				
TMEM252	169693	broad.mit.edu	37	9	71152315	71152315	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:71152315G>C	ENST00000377311.3	-	2	425	c.373C>G	c.(373-375)Cta>Gta	p.L125V		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	125						integral component of membrane (GO:0016021)											TCTGTATATAGAGGTGGAGGA	0.552																																						ENST00000377311.3																			0											c.(373-375)Cta>Gta		transmembrane protein 252							59.0	62.0	61.0					9																	71152315		2203	4300	6503	SO:0001583	missense	169693							g.chr9:71152315G>C	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.373C>G	9.37:g.71152315G>C	ENSP00000366528:p.Leu125Val						p.L125V	NM_153237.1	NP_694969.1					2	425	-									Missense_Mutation	SNP	ENST00000377311.3	37	c.373C>G	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	G	5.362	0.252006	0.10185	.	.	ENSG00000181778	ENST00000377311	.	.	.	5.43	2.48	0.30137	.	0.696064	0.12851	N	0.433945	T	0.50086	0.1595	L	0.55481	1.735	0.09310	N	1	B	0.15930	0.015	B	0.17722	0.019	T	0.42032	-0.9475	9	0.36615	T	0.2	-0.0189	15.5437	0.76077	0.0:0.3934:0.6066:0.0	.	125	Q8N6L7	CI071_HUMAN	V	125	.	ENSP00000366528:L125V	L	-	1	2	C9orf71	70342135	0.001000	0.12720	0.013000	0.15412	0.076000	0.17211	0.968000	0.29357	0.362000	0.24319	0.655000	0.94253	CTA		0.552	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		15	50	0	0	0	1	0	15	50				
MYBPC2	4606	broad.mit.edu	37	19	50962509	50962509	+	Missense_Mutation	SNP	A	A	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:50962509A>T	ENST00000357701.5	+	23	2788	c.2737A>T	c.(2737-2739)Agc>Tgc	p.S913C		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	913	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTACGAGCTGAGCGTGCAGAT	0.701																																						ENST00000357701.5																			0				breast(1)	1						c.(2737-2739)Agc>Tgc		myosin binding protein C, fast type							23.0	27.0	26.0					19																	50962509		2103	4225	6328	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50962509A>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2737A>T	19.37:g.50962509A>T	ENSP00000350332:p.Ser913Cys						p.S913C	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	23	2788	+		all_neural(266;0.057)	913			Ig-like C2-type 6.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2737A>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	a	14.28	2.489130	0.44249	.	.	ENSG00000086967	ENST00000357701	T	0.68025	-0.3	3.74	2.66	0.31614	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.828407	0.09764	U	0.758911	T	0.51839	0.1698	N	0.13327	0.33	0.27765	N	0.943706	B	0.18863	0.031	B	0.32677	0.15	T	0.50684	-0.8799	10	0.45353	T	0.12	.	7.2856	0.26337	0.647:0.0:0.0:0.353	.	913	Q14324	MYPC2_HUMAN	C	913	ENSP00000350332:S913C	ENSP00000350332:S913C	S	+	1	0	MYBPC2	55654321	0.015000	0.18098	0.970000	0.41538	0.883000	0.51084	0.257000	0.18369	0.518000	0.28383	0.330000	0.21533	AGC		0.701	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		8	39	0	0	0	1	0	8	39				
ITPR3	3710	broad.mit.edu	37	6	33657052	33657052	+	Missense_Mutation	SNP	G	G	C	rs569109913		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:33657052G>C	ENST00000374316.5	+	51	7792	c.6732G>C	c.(6730-6732)tgG>tgC	p.W2244C	ITPR3_ENST00000605930.1_Missense_Mutation_p.W2244C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2244					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGCTCTTCTGGATCCTCATCT	0.642																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6730-6732)tgG>tgC		inositol 1,4,5-trisphosphate receptor, type 3							159.0	136.0	144.0					6																	33657052		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33657052G>C	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6732G>C	6.37:g.33657052G>C	ENSP00000363435:p.Trp2244Cys					ITPR3_ENST00000605930.1_Missense_Mutation_p.W2244C	p.W2244C			Q14573	ITPR3_HUMAN			51	7792	+			2244					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6732G>C	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584267	0.86748	.	.	ENSG00000096433	ENST00000374316	D	0.92397	-3.03	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.94371	0.8190	L	0.52759	1.655	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.76071	0.987;0.819	D	0.94426	0.7645	10	0.72032	D	0.01	-16.6482	19.1626	0.93539	0.0:0.0:1.0:0.0	.	2244;1914	Q14573;Q59ES2	ITPR3_HUMAN;.	C	2244	ENSP00000363435:W2244C	ENSP00000363435:W2244C	W	+	3	0	ITPR3	33765030	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.263000	0.95617	2.768000	0.95171	0.561000	0.74099	TGG		0.642	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		21	76	0	0	0	1	0	21	76				
SGCE	8910	broad.mit.edu	37	7	94230021	94230021	+	Missense_Mutation	SNP	G	G	A	rs559353446		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:94230021G>A	ENST00000265735.7	-	7	1084	c.974C>T	c.(973-975)tCg>tTg	p.S325L	SGCE_ENST00000447873.1_Missense_Mutation_p.S325L|SGCE_ENST00000445866.2_Missense_Mutation_p.S325L|SGCE_ENST00000428696.2_Missense_Mutation_p.S325L|SGCE_ENST00000437425.2_Missense_Mutation_p.S284L|SGCE_ENST00000415788.2_Missense_Mutation_p.S361L	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	325	Cys-rich.				cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCACTGCCGAGGGCACAGC	0.433																																						ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	GRCh37	CD032135	SGCE	D		c.(1081-1083)tCg>tTg		sarcoglycan, epsilon							71.0	70.0	71.0					7																	94230021		2203	4300	6503	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94230021G>A	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.974C>T	7.37:g.94230021G>A	ENSP00000265735:p.Ser325Leu					SGCE_ENST00000437425.2_Missense_Mutation_p.S284L|SGCE_ENST00000428696.2_Missense_Mutation_p.S325L|SGCE_ENST00000445866.2_Missense_Mutation_p.S325L|SGCE_ENST00000265735.7_Missense_Mutation_p.S325L|SGCE_ENST00000447873.1_Missense_Mutation_p.S325L	p.S361L			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	1169	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		325					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.1082C>T	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	4.613	0.113971	0.08831	.	.	ENSG00000127990	ENST00000522045;ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.96207	0.8763	N	0.15975	0.35	0.80722	D	1	P;D;B;B;D;D	0.76494	0.857;0.997;0.146;0.123;0.999;0.998	B;D;B;B;D;D	0.79108	0.275;0.979;0.102;0.023;0.986;0.992	D	0.95509	0.8584	10	0.28530	T	0.3	-21.1995	17.3515	0.87326	0.0:0.0:1.0:0.0	.	361;284;325;325;325;325	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556;C9JR67	.;.;.;.;SGCE_HUMAN;.	L	11;325;325;284;325;325;361	ENSP00000431080:S11L;ENSP00000265735:S325L;ENSP00000398930:S325L;ENSP00000394061:S284L;ENSP00000388734:S325L;ENSP00000397536:S325L;ENSP00000405313:S361L	ENSP00000265735:S325L	S	-	2	0	SGCE	94067957	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.267000	0.72546	2.264000	0.75181	0.467000	0.42956	TCG		0.433	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			16	73	0	0	0	1	0	16	73				
GGTLC1	92086	broad.mit.edu	37	20	23966319	23966319	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:23966319C>G	ENST00000335694.4	-	5	720	c.516G>C	c.(514-516)gaG>gaC	p.E172D	GGTLC1_ENST00000278765.4_Missense_Mutation_p.E172D|GGTLC1_ENST00000286890.4_Missense_Mutation_p.E172D	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	172					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CAATGTTTCTCTCCACTGTCG	0.607																																						ENST00000335694.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(514-516)gaG>gaC		gamma-glutamyltransferase light chain 1							51.0	54.0	53.0					20																	23966319		2203	4295	6498	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966319C>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.516G>C	20.37:g.23966319C>G	ENSP00000337587:p.Glu172Asp					GGTLC1_ENST00000278765.4_Missense_Mutation_p.E172D|GGTLC1_ENST00000286890.4_Missense_Mutation_p.E172D	p.E172D	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			5	720	-			172					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.516G>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	16.01	3.000948	0.54254	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.21932	1.98;1.98;1.98	0.844	0.844	0.18943	.	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.89163	3.01	0.34722	D	0.72883	D	0.69078	0.997	D	0.71870	0.975	T	0.56751	-0.7927	10	0.87932	D	0	-30.6651	7.477	0.27382	0.0:0.9999:0.0:1.0E-4	.	172	Q9BX51	GGTL1_HUMAN	D	172	ENSP00000286890:E172D;ENSP00000278765:E172D;ENSP00000337587:E172D	ENSP00000278765:E172D	E	-	3	2	GGTLC1	23914319	0.951000	0.32395	0.363000	0.25875	0.365000	0.29674	1.779000	0.38624	0.088000	0.17205	0.089000	0.15464	GAG		0.607	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		14	121	0	0	0	1	0	14	121				
DYX1C1	161582	broad.mit.edu	37	15	55783446	55783446	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:55783446C>G	ENST00000321149.3	-	4	647	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.E94Q|DYX1C1_ENST00000348518.3_Missense_Mutation_p.E94Q|DYX1C1_ENST00000380679.1_Missense_Mutation_p.E94Q|DYX1C1_ENST00000457155.2_Missense_Mutation_p.E94Q	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	94	Mediates interaction with ESR1 and STUB1.				cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TGCATCATCTCTTTGTCAACT	0.323																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(280-282)Gag>Cag		dyslexia susceptibility 1 candidate 1							117.0	102.0	107.0					15																	55783446		2193	4292	6485	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55783446C>G		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.280G>C	15.37:g.55783446C>G	ENSP00000323275:p.Glu94Gln					DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.E94Q|DYX1C1_ENST00000457155.2_Missense_Mutation_p.E94Q|DYX1C1_ENST00000348518.3_Missense_Mutation_p.E94Q|DYX1C1_ENST00000380679.1_Missense_Mutation_p.E94Q	p.E94Q	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	4	647	-			94			Mediates interaction with ESR1 and STUB1.		Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.280G>C	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415407	0.62511	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.72	5.72	0.89469	HSP20-like chaperone (1);	0.000000	0.85682	U	0.000000	T	0.40767	0.1130	L	0.34521	1.04	0.58432	D	0.999993	D;P;P	0.56521	0.976;0.93;0.639	P;B;B	0.56163	0.793;0.345;0.11	T	0.06285	-1.0835	10	0.44086	T	0.13	.	18.4376	0.90652	0.0:1.0:0.0:0.0	.	94;94;94	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	Q	94	ENSP00000403412:E94Q;ENSP00000370054:E94Q;ENSP00000402640:E94Q;ENSP00000323275:E94Q;ENSP00000299561:E94Q	ENSP00000323275:E94Q	E	-	1	0	DYX1C1	53570738	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.799000	0.47892	2.700000	0.92200	0.643000	0.83706	GAG		0.323	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		13	47	0	0	0	1	0	13	47				
ALB	213	broad.mit.edu	37	4	74274350	74274350	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:74274350C>G	ENST00000295897.4	+	4	399	c.310C>G	c.(310-312)Ctt>Gtt	p.L104V	ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.L104V	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGTTGCAACTCTTCGTGAAAC	0.413																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(310-312)Ctt>Gtt		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						91.0	84.0	86.0					4																	74274350		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74274350C>G	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.310C>G	4.37:g.74274350C>G	ENSP00000295897:p.Leu104Val					ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.L104V|ALB_ENST00000401494.3_Intron|ALB_ENST00000415165.2_Intron	p.L104V	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	399	+	Breast(15;0.00102)		104			Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.310C>G	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	C	9.504	1.104106	0.20632	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.73152	-0.72;-0.72;-0.72	6.04	4.33	0.51752	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.167634	0.40385	N	0.001112	T	0.67581	0.2908	M	0.65320	2	0.24288	N	0.995179	B;B	0.30542	0.115;0.284	B;B	0.35727	0.024;0.209	T	0.63800	-0.6555	10	0.87932	D	0	-14.0835	7.5576	0.27833	0.0:0.7272:0.1376:0.1352	.	104;104	A6NBZ8;P02768	.;ALBU_HUMAN	V	106;104;104;104;113	ENSP00000392541:L106V;ENSP00000295897:L104V;ENSP00000422784:L104V	ENSP00000295897:L104V	L	+	1	0	ALB	74493214	0.007000	0.16637	0.007000	0.13788	0.063000	0.16089	0.761000	0.26489	0.896000	0.36366	0.563000	0.77884	CTT		0.413	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		13	67	0	0	0	1	0	13	67				
CHD5	26038	broad.mit.edu	37	1	6214862	6214862	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:6214862G>C	ENST00000262450.3	-	5	702	c.603C>G	c.(601-603)ttC>ttG	p.F201L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCTGCCCTTGAAGGGGTTGT	0.657																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(601-603)ttC>ttG		chromodomain helicase DNA binding protein 5							41.0	44.0	43.0					1																	6214862		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6214862G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.603C>G	1.37:g.6214862G>C	ENSP00000262450:p.Phe201Leu					CHD5_ENST00000378021.1_5'UTR	p.F201L	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	5	702	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	201					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.603C>G	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926537	0.34002	.	.	ENSG00000116254	ENST00000262450	D	0.90261	-2.64	3.84	-1.8	0.07907	.	0.000000	0.85682	D	0.000000	T	0.78685	0.4322	N	0.21097	0.63	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.58595	-0.7609	10	0.36615	T	0.2	-21.2112	5.1179	0.14845	0.3674:0.0:0.5007:0.132	.	201	Q8TDI0	CHD5_HUMAN	L	201	ENSP00000262450:F201L	ENSP00000262450:F201L	F	-	3	2	CHD5	6137449	1.000000	0.71417	0.980000	0.43619	0.944000	0.59088	1.276000	0.33156	-0.336000	0.08438	0.313000	0.20887	TTC		0.657	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		15	52	0	0	0	1	0	15	52				
TRIO	7204	broad.mit.edu	37	5	14291174	14291174	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:14291174C>G	ENST00000344204.4	+	5	914	c.890C>G	c.(889-891)tCa>tGa	p.S297*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.S297*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.S248*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	297					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAAAAGAACTCAGGCTCAGGC	0.547																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(889-891)tCa>tGa		trio Rho guanine nucleotide exchange factor							72.0	75.0	74.0					5																	14291174		2203	4300	6503	SO:0001587	stop_gained	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14291174C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.890C>G	5.37:g.14291174C>G	ENSP00000339299:p.Ser297*					TRIO_ENST00000537187.1_Nonsense_Mutation_p.S297*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.S248*	p.S297*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			5	914	+	Lung NSC(4;0.000742)		297					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	c.890C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	36	5.692201	0.96793	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	.	.	.	5.19	5.19	0.71726	.	0.406919	0.26959	N	0.021634	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.7059	0.91639	0.0:1.0:0.0:0.0	.	.	.	.	X	297;297;248	.	ENSP00000339299:S297X	S	+	2	0	TRIO	14344174	1.000000	0.71417	0.950000	0.38849	0.833000	0.47200	5.142000	0.64820	2.436000	0.82500	0.462000	0.41574	TCA		0.547	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		16	76	0	0	0	1	0	16	76				
SNX5	27131	broad.mit.edu	37	20	17932200	17932200	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:17932200C>T	ENST00000377768.3	-	7	865	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	SNX5_ENST00000377759.4_Missense_Mutation_p.G185S|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	185					intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TTGAAGAAGCCACCAAACATC	0.348																																						ENST00000377768.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						c.(553-555)Ggc>Agc		sorting nexin 5							118.0	113.0	115.0					20																	17932200		2203	4300	6503	SO:0001583	missense	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17932200C>T	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.553G>A	20.37:g.17932200C>T	ENSP00000366998:p.Gly185Ser					SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.G185S	p.G185S	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN			7	865	-			185					B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.553G>A	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764659	0.69878	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.28069	1.63;1.63;1.63;1.81	5.21	5.21	0.72293	Vps5 C-terminal (1);	0.145914	0.64402	D	0.000009	T	0.37100	0.0991	L	0.46741	1.465	0.52099	D	0.999943	B;P	0.34662	0.107;0.462	B;B	0.43360	0.091;0.417	T	0.10497	-1.0627	10	0.41790	T	0.15	.	15.5767	0.76397	0.1382:0.8618:0.0:0.0	.	206;185	B7Z476;Q9Y5X3	.;SNX5_HUMAN	S	185;185;148;150	ENSP00000366998:G185S;ENSP00000366988:G185S;ENSP00000404448:G148S;ENSP00000406731:G150S	ENSP00000366988:G185S	G	-	1	0	SNX5	17880200	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.032000	0.70918	2.596000	0.87737	0.556000	0.70494	GGC		0.348	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			22	123	0	0	0	1	0	22	123				
FER	2241	broad.mit.edu	37	5	108290552	108290552	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:108290552G>C	ENST00000281092.4	+	12	1836	c.1452G>C	c.(1450-1452)gaG>gaC	p.E484D	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.E309D	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	484	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGTGCGAGAGAGTCATGGGA	0.403																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1450-1452)gaG>gaC		fer (fps/fes related) tyrosine kinase							126.0	127.0	126.0					5																	108290552		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108290552G>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1452G>C	5.37:g.108290552G>C	ENSP00000281092:p.Glu484Asp					FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.E309D	p.E484D	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	12	1836	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	484			SH2.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1452G>C	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918853	0.73098	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.89681	-2.55;-2.55	5.01	3.23	0.37069	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	L	0.45422	1.42	0.54753	D	0.999988	P	0.49185	0.92	P	0.60117	0.869	D	0.87516	0.2443	10	0.59425	D	0.04	-17.4884	8.3289	0.32173	0.2405:0.0:0.7595:0.0	.	484	P16591	FER_HUMAN	D	484;309	ENSP00000281092:E484D;ENSP00000394297:E309D	ENSP00000281092:E484D	E	+	3	2	FER	108318451	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.002000	0.40835	0.504000	0.28082	-0.259000	0.10710	GAG		0.403	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		17	91	0	0	0	1	0	17	91				
ELK3	2004	broad.mit.edu	37	12	96653599	96653599	+	Missense_Mutation	SNP	G	G	A	rs143649233		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:96653599G>A	ENST00000228741.3	+	4	1419	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	ELK3_ENST00000549529.1_3'UTR|ELK3_ENST00000552142.1_Missense_Mutation_p.A100T	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	365					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GCTGAGTCCTGCCAGGCTGCA	0.498																																						ENST00000228741.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(1093-1095)Gcc>Acc		ELK3, ETS-domain protein (SRF accessory protein 2)		G	THR/ALA	0,4406		0,0,2203	89.0	87.0	88.0		1093	5.5	1.0	12	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ELK3	NM_005230.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	365/408	96653599	1,13005	2203	4300	6503	SO:0001583	missense	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96653599G>A	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.1093G>A	12.37:g.96653599G>A	ENSP00000228741:p.Ala365Thr					ELK3_ENST00000552142.1_Missense_Mutation_p.A100T|ELK3_ENST00000549529.1_3'UTR	p.A365T	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN			4	1419	+	all_cancers(2;0.00173)		365					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	c.1093G>A	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621439	0.96660	0.0	1.16E-4	ENSG00000111145	ENST00000228741;ENST00000552142	T;T	0.44881	0.91;0.91	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	M	0.81341	2.54	0.46631	D	0.999131	D	0.89917	1.0	D	0.80764	0.994	T	0.72656	-0.4227	10	0.87932	D	0	.	19.3249	0.94258	0.0:0.0:1.0:0.0	.	365	P41970	ELK3_HUMAN	T	365;100	ENSP00000228741:A365T;ENSP00000449430:A100T	ENSP00000228741:A365T	A	+	1	0	ELK3	95177730	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.452000	0.97615	2.567000	0.86603	0.561000	0.74099	GCC		0.498	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		13	79	0	0	0	1	0	13	79				
CCT6A	908	broad.mit.edu	37	7	56129470	56129470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:56129470C>T	ENST00000275603.4	+	12	1597	c.1378C>T	c.(1378-1380)Cag>Tag	p.Q460*	CCT6A_ENST00000462133.1_3'UTR|SUMF2_ENST00000434526.2_5'Flank|CCT6A_ENST00000540286.1_Nonsense_Mutation_p.Q429*|SUMF2_ENST00000395435.2_5'Flank|SUMF2_ENST00000395436.2_5'Flank|CCT6A_ENST00000335503.3_Nonsense_Mutation_p.Q415*|SUMF2_ENST00000275607.9_5'Flank|SUMF2_ENST00000437307.2_5'Flank|SUMF2_ENST00000342190.6_5'Flank|SNORA15_ENST00000384439.1_RNA|SUMF2_ENST00000413756.1_5'Flank	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	460					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTTGACCTTCAGGAAACATT	0.343																																						ENST00000275603.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1378-1380)Cag>Tag		chaperonin containing TCP1, subunit 6A (zeta 1)							44.0	45.0	45.0					7																	56129470		2203	4300	6503	SO:0001587	stop_gained	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56129470C>T	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1378C>T	7.37:g.56129470C>T	ENSP00000275603:p.Gln460*					CCT6A_ENST00000335503.3_Nonsense_Mutation_p.Q415*|CCT6A_ENST00000540286.1_Nonsense_Mutation_p.Q429*|CCT6A_ENST00000462133.1_3'UTR	p.Q460*	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		12	1597	+	Breast(14;0.214)		460					A6NCD2|Q3KP28|Q75LP4|Q96S46	Nonsense_Mutation	SNP	ENST00000275603.4	37	c.1378C>T	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	C	38	6.716147	0.97784	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	.	.	.	4.96	4.96	0.65561	.	0.257775	0.40302	N	0.001135	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	0.0902	16.8268	0.85933	0.0:1.0:0.0:0.0	.	.	.	.	X	460;415;429;318	.	ENSP00000275603:Q460X	Q	+	1	0	CCT6A	56096964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.494000	0.66905	2.296000	0.77279	0.456000	0.33151	CAG		0.343	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		8	38	0	0	0	1	0	8	38				
TMCO5A	145942	broad.mit.edu	37	15	38229091	38229091	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:38229091G>A	ENST00000319669.4	+	3	286	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	TMCO5A_ENST00000558158.1_Missense_Mutation_p.E62K|TMCO5A_ENST00000540944.1_Missense_Mutation_p.E62K|TMCO5A_ENST00000559502.1_Missense_Mutation_p.E62K	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	62						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GGTGGAAGATGAAGAGTGGGA	0.522																																						ENST00000558158.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(184-186)Gaa>Aaa		transmembrane and coiled-coil domains 5A							104.0	103.0	103.0					15																	38229091		2200	4297	6497	SO:0001583	missense	145942					integral to membrane		g.chr15:38229091G>A	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.184G>A	15.37:g.38229091G>A	ENSP00000327234:p.Glu62Lys					TMCO5A_ENST00000559502.1_Missense_Mutation_p.E62K|TMCO5A_ENST00000319669.4_Missense_Mutation_p.E62K|TMCO5A_ENST00000540944.1_Missense_Mutation_p.E62K	p.E62K			Q8N6Q1	TMC5A_HUMAN			4	338	+			62					Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.184G>A	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038446	0.19669	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.42	4.42	0.53409	.	0.104953	0.42964	D	0.000633	T	0.67795	0.2931	M	0.74881	2.28	0.35878	D	0.828708	D;D	0.64830	0.994;0.994	P;D	0.65773	0.851;0.938	T	0.67624	-0.5623	9	0.02654	T	1	-8.9222	12.8514	0.57860	0.0:0.0:1.0:0.0	.	62;62	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	K	62	.	ENSP00000327234:E62K	E	+	1	0	TMCO5A	36016383	0.974000	0.33945	0.977000	0.42913	0.033000	0.12548	1.656000	0.37355	2.746000	0.94184	0.655000	0.94253	GAA		0.522	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		13	35	0	0	0	1	0	13	35				
SH3TC2	79628	broad.mit.edu	37	5	148389898	148389898	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:148389898C>T	ENST00000515425.1	-	14	3363	c.3262G>A	c.(3262-3264)Gaa>Aaa	p.E1088K	SH3TC2_ENST00000512049.1_Missense_Mutation_p.E1081K|SH3TC2_ENST00000502274.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.E635K	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1088					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTTCTTCATAAAGTTTG	0.532																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1903-1905)Gaa>Aaa		SH3 domain and tetratricopeptide repeats 2							85.0	80.0	82.0					5																	148389898		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148389898C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3262G>A	5.37:g.148389898C>T	ENSP00000423660:p.Glu1088Lys					SH3TC2_ENST00000515425.1_Missense_Mutation_p.E1088K|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E1081K	p.E635K			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	2791	-			1088					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1903G>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372417	0.95923	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049	T;T;T	0.79940	-1.32;-1.32;-1.13	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.89715	0.3915	10	0.62326	D	0.03	-13.9071	20.3242	0.98691	0.0:1.0:0.0:0.0	.	1081;1088;1088	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	K	635;1088;1081	ENSP00000441427:E635K;ENSP00000423660:E1088K;ENSP00000421860:E1081K	ENSP00000425627:E1088K	E	-	1	0	SH3TC2	148370091	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	7.117000	0.77129	2.882000	0.98803	0.655000	0.94253	GAA		0.532	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		17	60	0	0	0	1	0	17	60				
SULT1C4	27233	broad.mit.edu	37	2	108998900	108998900	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:108998900C>T	ENST00000272452.2	+	3	681	c.355C>T	c.(355-357)Cac>Tac	p.H119Y	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	119					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TCTTCCCTTTCACTTGCTGCC	0.393																																						ENST00000272452.2																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(355-357)Cac>Tac		sulfotransferase family, cytosolic, 1C, member 4							231.0	216.0	221.0					2																	108998900		2203	4300	6503	SO:0001583	missense	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108998900C>T	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.355C>T	2.37:g.108998900C>T	ENSP00000272452:p.His119Tyr					SULT1C4_ENST00000409309.3_Intron	p.H119Y	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN			3	681	+			119					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	c.355C>T	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	C	8.502	0.864599	0.17250	.	.	ENSG00000198075	ENST00000272452	D	0.81996	-1.56	4.44	1.52	0.23074	Sulfotransferase domain (1);	1.466690	0.04100	N	0.312707	T	0.76378	0.3979	L	0.35723	1.085	0.35325	D	0.785144	B	0.11235	0.004	B	0.15052	0.012	T	0.59773	-0.7391	10	0.30854	T	0.27	.	7.9651	0.30094	0.2649:0.3785:0.3566:0.0	.	119	O75897	ST1C4_HUMAN	Y	119	ENSP00000272452:H119Y	ENSP00000272452:H119Y	H	+	1	0	SULT1C4	108365332	0.056000	0.20664	0.001000	0.08648	0.399000	0.30720	0.848000	0.27710	0.182000	0.20032	0.609000	0.83330	CAC		0.393	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		49	173	0	0	0	1	0	49	173				
PABPC5	140886	broad.mit.edu	37	X	90691441	90691441	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:90691441G>C	ENST00000312600.3	+	2	1079	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	PABPC5_ENST00000373105.1_Missense_Mutation_p.E125Q|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	289						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GCGGAGATTTGAACGGCTGAG	0.448																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(865-867)Gaa>Caa		poly(A) binding protein, cytoplasmic 5							37.0	37.0	37.0					X																	90691441		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691441G>C	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.865G>C	X.37:g.90691441G>C	ENSP00000308012:p.Glu289Gln					PABPC5_ENST00000373105.1_Missense_Mutation_p.E125Q	p.E289Q	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	1079	+			289					A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.865G>C	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256551	0.59321	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.23147	2.05;1.92	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	L	0.53561	1.675	0.58432	D	0.999994	D	0.76494	0.999	D	0.80764	0.994	T	0.42085	-0.9472	10	0.87932	D	0	.	13.362	0.60661	0.0:0.0:1.0:0.0	.	289	Q96DU9	PABP5_HUMAN	Q	125;289;257	ENSP00000362197:E125Q;ENSP00000308012:E289Q	ENSP00000308012:E289Q	E	+	1	0	PABPC5	90578097	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.240000	0.95396	2.318000	0.78349	0.529000	0.55759	GAA		0.448	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		12	23	0	0	0	1	0	12	23				
MAFB	9935	broad.mit.edu	37	20	39317034	39317034	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:39317034C>G	ENST00000373313.2	-	1	846	c.457G>C	c.(457-459)Gac>Cac	p.D153H	MAFB_ENST00000396967.1_Missense_Mutation_p.D153H	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	153					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CCCAGCTCGTCGTGGGCCACG	0.711			T	IGH@	MM																																	ENST00000373313.2				Dom	yes		20	20q11.2-q13.1	9935	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)			L	IGH@		MM		0				kidney(1)|large_intestine(1)	2						c.(457-459)Gac>Cac		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B							7.0	10.0	9.0					20																	39317034		2133	4171	6304	SO:0001583	missense	9935				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr20:39317034C>G	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.457G>C	20.37:g.39317034C>G	ENSP00000362410:p.Asp153His					MAFB_ENST00000396967.1_Missense_Mutation_p.D153H	p.D153H	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN			1	846	-		Myeloproliferative disorder(115;0.00878)	153					B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	c.457G>C	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	C	9.898	1.206120	0.22205	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.97642	-4.47;-4.47	4.86	3.85	0.44370	.	0.512215	0.19075	N	0.123391	D	0.90844	0.7124	N	0.08118	0	0.51012	D	0.9999	B	0.15473	0.013	B	0.12837	0.008	D	0.86901	0.2054	10	0.15499	T	0.54	-8.2031	13.5312	0.61623	0.0:0.8422:0.1578:0.0	.	153	Q9Y5Q3	MAFB_HUMAN	H	153	ENSP00000362410:D153H;ENSP00000380167:D153H	ENSP00000362410:D153H	D	-	1	0	MAFB	38750448	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	4.063000	0.57499	2.274000	0.75844	0.456000	0.33151	GAC		0.711	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2			6	13	0	0	0	1	0	6	13				
SH3BP4	23677	broad.mit.edu	37	2	235950877	235950877	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:235950877C>G	ENST00000409212.1	+	4	1971	c.1464C>G	c.(1462-1464)ttC>ttG	p.F488L	SH3BP4_ENST00000392011.2_Missense_Mutation_p.F488L|SH3BP4_ENST00000344528.4_Missense_Mutation_p.F488L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	488					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ACCCATCCTTCAAGACGGTAG	0.577																																						ENST00000409212.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(1462-1464)ttC>ttG		SH3-domain binding protein 4							75.0	80.0	78.0					2																	235950877		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950877C>G	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1464C>G	2.37:g.235950877C>G	ENSP00000386862:p.Phe488Leu					SH3BP4_ENST00000392011.2_Missense_Mutation_p.F488L|SH3BP4_ENST00000344528.4_Missense_Mutation_p.F488L	p.F488L			Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1971	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	488					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1464C>G	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957977	0.53400	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.11495	2.77;2.77;2.77	5.18	2.37	0.29283	.	0.105151	0.64402	D	0.000003	T	0.16514	0.0397	M	0.63843	1.955	0.58432	D	0.999997	D;D	0.57899	0.981;0.981	P;P	0.52554	0.702;0.702	T	0.01587	-1.1318	10	0.42905	T	0.14	-43.9291	6.2566	0.20877	0.0:0.5992:0.0:0.4008	.	488;488	A8K594;Q9P0V3	.;SH3B4_HUMAN	L	488	ENSP00000375867:F488L;ENSP00000386862:F488L;ENSP00000340237:F488L	ENSP00000340237:F488L	F	+	3	2	SH3BP4	235615616	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.718000	0.38001	1.182000	0.42928	0.655000	0.94253	TTC		0.577	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			25	74	0	0	0	1	0	25	74				
ZMYND12	84217	broad.mit.edu	37	1	42914180	42914180	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:42914180C>G	ENST00000372565.3	-	3	651	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	128						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)				GGCACAAGCTCTACGGAGCTC	0.527																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(382-384)Gag>Cag		zinc finger, MYND-type containing 12							76.0	69.0	71.0					1																	42914180		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42914180C>G	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.382G>C	1.37:g.42914180C>G	ENSP00000361646:p.Glu128Gln					ZMYND12_ENST00000433602.2_Intron	p.E128Q	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			3	651	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	128					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.382G>C	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793457	0.31685	.	.	ENSG00000066185	ENST00000372565	T	0.63580	-0.05	5.58	4.64	0.57946	Tetratricopeptide-like helical (1);	0.231634	0.43416	D	0.000566	T	0.51432	0.1674	L	0.37630	1.12	0.80722	D	1	B	0.32653	0.379	B	0.30943	0.122	T	0.53092	-0.8487	10	0.40728	T	0.16	-15.3625	14.3063	0.66386	0.0:0.8511:0.1488:0.0	.	128	Q9H0C1	ZMY12_HUMAN	Q	128	ENSP00000361646:E128Q	ENSP00000361646:E128Q	E	-	1	0	ZMYND12	42686767	0.624000	0.27102	1.000000	0.80357	0.542000	0.35054	0.784000	0.26816	2.621000	0.88768	0.561000	0.74099	GAG		0.527	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		15	30	0	0	0	1	0	15	30				
SNAP91	9892	broad.mit.edu	37	6	84375259	84375259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:84375259G>A	ENST00000439399.2	-	3	488	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	SNAP91_ENST00000369694.2_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000521743.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000195649.6_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000437520.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000520302.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000520213.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000428679.2_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000521485.1_Nonsense_Mutation_p.Q58*	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	58	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCGGCCATCTGAGGAATATTA	0.378																																						ENST00000428679.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(172-174)Cag>Tag		synaptosomal-associated protein, 91kDa							157.0	147.0	150.0					6																	84375259		1859	4091	5950	SO:0001587	stop_gained	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84375259G>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.172C>T	6.37:g.84375259G>A	ENSP00000400459:p.Gln58*					SNAP91_ENST00000439399.2_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000369694.2_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000520302.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000521485.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000437520.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000520213.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000521743.1_Nonsense_Mutation_p.Q58*|SNAP91_ENST00000195649.6_Nonsense_Mutation_p.Q58*	p.Q58*			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	3	765	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	58			ENTH.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Nonsense_Mutation	SNP	ENST00000439399.2	37	c.172C>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	37	6.419612	0.97550	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690;ENST00000523484;ENST00000519825	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.3368	19.9756	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000195649:Q58X	Q	-	1	0	SNAP91	84431978	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.793000	0.96121	0.563000	0.77884	CAG		0.378	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			20	99	0	0	0	1	0	20	99				
SURF6	6838	broad.mit.edu	37	9	136199081	136199081	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:136199081C>T	ENST00000372022.4	-	5	975	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	237					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CAGCAGCTGCCGGTAGTTCCT	0.672																																						ENST00000372022.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12						c.(709-711)cGg>cAg		surfeit 6							47.0	53.0	51.0					9																	136199081		2203	4298	6501	SO:0001583	missense	6838					granular component	DNA binding|RNA binding	g.chr9:136199081C>T	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.710G>A	9.37:g.136199081C>T	ENSP00000361092:p.Arg237Gln					SURF6_ENST00000468290.1_5'UTR	p.R237Q	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)	5	975	-			237					Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	ENST00000372022.4	37	c.710G>A	CCDS6962.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403945	0.83230	.	.	ENSG00000148296	ENST00000372022	T	0.13901	2.55	5.08	3.12	0.35913	.	0.111469	0.56097	D	0.000021	T	0.16385	0.0394	M	0.62723	1.935	0.34425	D	0.69784	D	0.60575	0.988	P	0.48227	0.571	T	0.12243	-1.0555	10	0.48119	T	0.1	-39.2678	4.7849	0.13220	0.0:0.5854:0.1965:0.218	.	237	O75683	SURF6_HUMAN	Q	237	ENSP00000361092:R237Q	ENSP00000361092:R237Q	R	-	2	0	SURF6	135188902	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.388000	0.44398	2.351000	0.79841	0.467000	0.42956	CGG		0.672	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054905.1	NM_006753		12	74	0	0	0	1	0	12	74				
DNPEP	23549	broad.mit.edu	37	2	220247868	220247868	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:220247868G>C	ENST00000273075.4	-	10	1141	c.921C>G	c.(919-921)ctC>ctG	p.L307L	DNPEP_ENST00000490371.1_5'Flank|DNPEP_ENST00000373972.1_Silent_p.L232L|DNPEP_ENST00000523282.1_Silent_p.L315L	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	297					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTTGTCATAGAGTGTGACCA	0.582																																						ENST00000273075.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(919-921)ctC>ctG		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						81.0	85.0	84.0					2																	220247868		2063	4192	6255	SO:0001819	synonymous_variant	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220247868G>C		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.921C>G	2.37:g.220247868G>C						DNPEP_ENST00000373972.1_Silent_p.L232L|DNPEP_ENST00000523282.1_Silent_p.L315L	p.L307L	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1141	-		Renal(207;0.0474)	297					Q9BW44|Q9NUV5	Silent	SNP	ENST00000273075.4	37	c.921C>G	CCDS42823.1																																																																																				0.582	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100		22	44	0	0	0	1	0	22	44				
NSD1	64324	broad.mit.edu	37	5	176684087	176684087	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:176684087G>A	ENST00000439151.2	+	13	4946	c.4901G>A	c.(4900-4902)cGg>cAg	p.R1634Q	NSD1_ENST00000347982.4_Missense_Mutation_p.R1365Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1365Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R1531Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1634					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGGGCTTCCGGTGCTCCCTC	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4900-4902)cGg>cAg		nuclear receptor binding SET domain protein 1							120.0	99.0	106.0					5																	176684087		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176684087G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4901G>A	5.37:g.176684087G>A	ENSP00000395929:p.Arg1634Gln	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Missense_Mutation_p.R1365Q|NSD1_ENST00000354179.4_Missense_Mutation_p.R1365Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R1531Q	p.R1634Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	13	4946	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1634					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4901G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269046	0.95429	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91	5.33	4.46	0.54185	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.56097	D	0.000040	D	0.97692	0.9243	M	0.85630	2.765	0.50632	D	0.999882	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.996;0.961	D	0.98340	1.0538	10	0.72032	D	0.01	.	14.4871	0.67624	0.0712:0.0:0.9288:0.0	.	1365;1531;1634	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1365;1634;1365;1531	ENSP00000346111:R1365Q;ENSP00000395929:R1634Q;ENSP00000343209:R1365Q;ENSP00000354310:R1531Q	ENSP00000343209:R1365Q	R	+	2	0	NSD1	176616693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.809000	0.99208	1.377000	0.46286	0.650000	0.86243	CGG		0.443	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		16	51	0	0	0	1	0	16	51				
SH3TC1	54436	broad.mit.edu	37	4	8229622	8229622	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:8229622C>G	ENST00000245105.3	+	12	2268	c.2201C>G	c.(2200-2202)tCa>tGa	p.S734*	SH3TC1_ENST00000539824.1_Nonsense_Mutation_p.S658*	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	734										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AAGGTGGCCTCATTGCGGACA	0.657																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(1972-1974)tCa>tGa		SH3 domain and tetratricopeptide repeats 1							56.0	54.0	54.0					4																	8229622		2203	4300	6503	SO:0001587	stop_gained	54436						binding	g.chr4:8229622C>G	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2201C>G	4.37:g.8229622C>G	ENSP00000245105:p.Ser734*					SH3TC1_ENST00000245105.3_Nonsense_Mutation_p.S734*	p.S658*			Q8TE82	S3TC1_HUMAN			12	2347	+			734					Q4W5G5	Nonsense_Mutation	SNP	ENST00000245105.3	37	c.1973C>G	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	37	5.979832	0.97168	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	.	.	.	4.37	4.37	0.52481	.	0.070469	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.9416	16.9117	0.86142	0.0:1.0:0.0:0.0	.	.	.	.	X	472;734;658;563	.	ENSP00000245105:S734X	S	+	2	0	SH3TC1	8280522	0.977000	0.34250	0.625000	0.29200	0.112000	0.19704	3.942000	0.56614	1.967000	0.57214	0.462000	0.41574	TCA		0.657	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		13	51	0	0	0	1	0	13	51				
ACSBG2	81616	broad.mit.edu	37	19	6185518	6185518	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:6185518G>C	ENST00000586696.1	+	11	1670	c.1394G>C	c.(1393-1395)tGc>tCc	p.C465S	ACSBG2_ENST00000588485.1_Missense_Mutation_p.C278S|ACSBG2_ENST00000588304.1_Missense_Mutation_p.C415S|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.C465S|ACSBG2_ENST00000591403.1_Missense_Mutation_p.C465S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	465					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGAGATCTGCCTCTGGGGT	0.527																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1243-1245)tGc>tCc		acyl-CoA synthetase bubblegum family member 2							215.0	196.0	203.0					19																	6185518		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6185518G>C		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1394G>C	19.37:g.6185518G>C	ENSP00000465589:p.Cys465Ser					ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000586696.1_Missense_Mutation_p.C465S|ACSBG2_ENST00000591403.1_Missense_Mutation_p.C465S|ACSBG2_ENST00000588485.1_Missense_Mutation_p.C278S|ACSBG2_ENST00000252669.5_Missense_Mutation_p.C465S	p.C415S			Q5FVE4	ACBG2_HUMAN			11	1690	+			465					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.1244G>C	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335222	0.41398	.	.	ENSG00000130377	ENST00000252669	T	0.45668	0.89	4.81	3.73	0.42828	AMP-dependent synthetase/ligase (1);	0.000000	0.50627	D	0.000120	T	0.68375	0.2994	M	0.91249	3.19	0.52501	D	0.999955	D;D	0.76494	0.969;0.999	P;D	0.76071	0.9;0.987	T	0.75416	-0.3325	10	0.87932	D	0	-25.455	11.2611	0.49083	0.0:0.0:0.6766:0.3234	.	465;465	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	S	465	ENSP00000252669:C465S	ENSP00000252669:C465S	C	+	2	0	ACSBG2	6136518	1.000000	0.71417	0.905000	0.35620	0.109000	0.19521	6.199000	0.72112	2.228000	0.72767	0.555000	0.69702	TGC		0.527	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		49	216	0	0	0	1	0	49	216				
NLRC3	197358	broad.mit.edu	37	16	3611708	3611708	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3611708C>G	ENST00000301749.7	-	0	2415				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTACCTGATCTTCTGAATGC	0.612																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							86.0	96.0	93.0					16																	3611708		2091	4203	6294			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3611708C>G	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3611708C>G						NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	2415	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	13.19	2.164622	0.38217	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.54071	0.59;0.59;0.59	5.55	2.56	0.30785	.	0.114465	0.64402	D	0.000018	T	0.35189	0.0923	.	.	.	0.22253	N	0.999258	B	0.11235	0.004	B	0.16722	0.016	T	0.18429	-1.0337	9	0.22109	T	0.4	.	8.9847	0.35986	0.0:0.757:0.0:0.243	.	717	C9JLH9	.	N	670;670;670;717	ENSP00000301749:K670N;ENSP00000352039:K670N;ENSP00000414415:K717N	ENSP00000301749:K670N	K	-	3	2	NLRC3	3551709	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.903000	0.28475	0.320000	0.23234	0.555000	0.69702	AAG		0.612	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		22	89	0	0	0	1	0	22	89				
OR4L1	122742	broad.mit.edu	37	14	20528443	20528443	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:20528443G>A	ENST00000315683.1	+	1	240	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	80						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)		CAACACCCAAGATGATCATAG	0.478																																						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.(238-240)aaG>aaA		olfactory receptor, family 4, subfamily L, member 1							141.0	139.0	140.0					14																	20528443		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528443G>A		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.240G>A	14.37:g.20528443G>A							p.K80K	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	240	+	all_cancers(95;0.00108)		80					Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.240G>A	CCDS32029.1																																																																																				0.478	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			73	71	0	0	0	1	0	73	71				
THBS1	7057	broad.mit.edu	37	15	39874094	39874094	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:39874094G>C	ENST00000260356.5	+	2	201	c.36G>C	c.(34-36)ctG>ctC	p.L12L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	12					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TCCTGTTCCTGATGCATGTGT	0.597											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(34-36)ctG>ctC		thrombospondin 1	Becaplermin(DB00102)						125.0	104.0	111.0					15																	39874094		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874094G>C		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.36G>C	15.37:g.39874094G>C			OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889		p.L12L	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	2	201	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	12					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.36G>C	CCDS32194.1																																																																																				0.597	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	44	0	0	0	1	0	5	44				
THEMIS	387357	broad.mit.edu	37	6	128176229	128176229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:128176229G>A	ENST00000368248.2	-	2	344	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	THEMIS_ENST00000543064.1_Nonsense_Mutation_p.Q66*|THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000537166.1_Nonsense_Mutation_p.Q31*	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	66	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCTTCAATCTGCTCACAAATT	0.338																																						ENST00000543064.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(196-198)Cag>Tag		thymocyte selection associated							116.0	114.0	115.0					6																	128176229		2203	4300	6503	SO:0001587	stop_gained	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128176229G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.196C>T	6.37:g.128176229G>A	ENSP00000357231:p.Gln66*					THEMIS_ENST00000368248.2_Nonsense_Mutation_p.Q66*|THEMIS_ENST00000537166.1_Nonsense_Mutation_p.Q31*|THEMIS_ENST00000368250.1_5'UTR	p.Q66*	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN			2	344	-			66			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Nonsense_Mutation	SNP	ENST00000368248.2	37	c.196C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442352	0.63067	.	.	ENSG00000172673	ENST00000543064;ENST00000368248;ENST00000537166	.	.	.	5.3	0.69	0.18039	.	1.333820	0.04727	N	0.420424	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-0.0192	8.1413	0.31084	0.0:0.3623:0.2115:0.4262	.	.	.	.	X	66;66;31	.	ENSP00000357231:Q66X	Q	-	1	0	THEMIS	128217922	0.009000	0.17119	0.155000	0.22561	0.448000	0.32197	1.018000	0.30002	0.245000	0.21373	0.557000	0.71058	CAG		0.338	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		18	69	0	0	0	1	0	18	69				
FMNL2	114793	broad.mit.edu	37	2	153475613	153475613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:153475613C>A	ENST00000288670.9	+	14	1935	c.1568C>A	c.(1567-1569)tCa>tAa	p.S523*	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	523					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCCGCTTCCTCAGGACCCTTG	0.557																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1567-1569)tCa>tAa		formin-like 2							49.0	52.0	51.0					2																	153475613		1958	4141	6099	SO:0001587	stop_gained	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153475613C>A	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1568C>A	2.37:g.153475613C>A	ENSP00000288670:p.Ser523*						p.S523*	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			14	1935	+			523					B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Nonsense_Mutation	SNP	ENST00000288670.9	37	c.1568C>A	CCDS46429.1	.	.	.	.	.	.	.	.	.	.	C	40	8.313108	0.98754	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	.	.	.	5.57	4.69	0.59074	.	0.226339	0.38663	N	0.001609	.	.	.	.	.	.	0.33658	D	0.609353	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.4025	0.67056	0.0:0.929:0.0:0.071	.	.	.	.	X	523;20	.	ENSP00000288670:S523X	S	+	2	0	FMNL2	153183859	0.097000	0.21791	0.065000	0.19835	0.031000	0.12232	1.957000	0.40392	1.351000	0.45789	0.650000	0.86243	TCA		0.557	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		16	36	1	0	6.94344e-10	1	7.24856e-10	16	36				
RGS12	6002	broad.mit.edu	37	4	3427279	3427279	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:3427279G>C	ENST00000344733.5	+	14	4227	c.3323G>C	c.(3322-3324)aGa>aCa	p.R1108T	RGS12_ENST00000306648.7_Missense_Mutation_p.R506T|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000538395.1_Missense_Mutation_p.R450T|RGS12_ENST00000336727.3_Missense_Mutation_p.R1108T|RGS12_ENST00000382788.3_Missense_Mutation_p.R1108T|RGS12_ENST00000338806.4_Missense_Mutation_p.R460T	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1108					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATCCTTCCAGAGGAAAGGGT	0.632																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3322-3324)aGa>aCa		regulator of G-protein signaling 12							94.0	97.0	96.0					4																	3427279		2202	4300	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3427279G>C	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3323G>C	4.37:g.3427279G>C	ENSP00000339381:p.Arg1108Thr					RGS12_ENST00000538395.1_Missense_Mutation_p.R450T|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.R1108T|RGS12_ENST00000344733.5_Missense_Mutation_p.R1108T|RGS12_ENST00000338806.4_Missense_Mutation_p.R460T|RGS12_ENST00000306648.7_Missense_Mutation_p.R506T	p.R1108T	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	14	4227	+			1108					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3323G>C	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417192	0.25552	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.36157	1.61;1.61;1.61;1.27;1.29;1.28	4.55	3.68	0.42216	.	0.435813	0.23457	N	0.047967	T	0.34366	0.0895	L	0.60455	1.87	0.09310	N	1	B;P;P;P;P;B;B;B	0.48911	0.073;0.917;0.917;0.734;0.486;0.128;0.415;0.248	B;B;B;B;B;B;B;B	0.44278	0.055;0.445;0.445;0.281;0.138;0.055;0.146;0.209	T	0.17107	-1.0380	10	0.27082	T	0.32	-22.9207	9.5893	0.39537	0.162:0.0:0.838:0.0	.	450;307;307;450;460;506;1108;1108	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	T	1108;1108;1108;506;460;450	ENSP00000339381:R1108T;ENSP00000338509:R1108T;ENSP00000372238:R1108T;ENSP00000304459:R506T;ENSP00000342133:R460T;ENSP00000438888:R450T	ENSP00000304459:R506T	R	+	2	0	RGS12	3397077	0.487000	0.25988	0.019000	0.16419	0.824000	0.46624	1.555000	0.36277	2.237000	0.73441	0.651000	0.88453	AGA		0.632	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		24	99	0	0	0	1	0	24	99				
RANBP2	5903	broad.mit.edu	37	2	109398721	109398721	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:109398721G>A	ENST00000283195.6	+	27	9024	c.8898G>A	c.(8896-8898)aaG>aaA	p.K2966K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2966	RanBD1 4. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATACAATGAAGAATTATTACC	0.378																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(8896-8898)aaG>aaA		RAN binding protein 2							101.0	106.0	104.0					2																	109398721		2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109398721G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.8898G>A	2.37:g.109398721G>A							p.K2966K	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			27	9024	+			2966			RanBD1 4.		Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.8898G>A	CCDS2079.1																																																																																				0.378	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		32	107	0	0	0	1	0	32	107				
CAMTA1	23261	broad.mit.edu	37	1	7796589	7796589	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:7796589C>T	ENST00000303635.7	+	13	3459	c.3252C>T	c.(3250-3252)ctC>ctT	p.L1084L	CAMTA1_ENST00000439411.2_Silent_p.L1084L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1084					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)		TCCAGACCCTCATCAAATGGC	0.582			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.(3250-3252)ctC>ctT		calmodulin binding transcription activator 1							84.0	81.0	82.0					1																	7796589		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7796589C>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.3252C>T	1.37:g.7796589C>T						CAMTA1_ENST00000439411.2_Silent_p.L1084L	p.L1084L	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)	13	3459	+	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)	1084					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.3252C>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238997	0.22711	.	.	ENSG00000171735	ENST00000495233	.	.	.	5.79	4.88	0.63580	.	.	.	.	.	T	0.63721	0.2535	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62383	-0.6866	4	.	.	.	-18.4174	11.929	0.52835	0.1372:0.7309:0.1319:0.0	.	.	.	.	L	41	.	.	S	+	2	0	CAMTA1	7719176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.108000	0.50337	1.446000	0.47643	0.655000	0.94253	TCA		0.582	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		19	63	0	0	0	1	0	19	63				
NMNAT1	64802	broad.mit.edu	37	1	10041193	10041193	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:10041193C>G	ENST00000377205.1	+	4	548	c.404C>G	c.(403-405)tCt>tGt	p.S135C	NMNAT1_ENST00000403197.1_Missense_Mutation_p.S135C|RP11-807G9.2_ENST00000413148.1_RNA	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	135					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ACACAAGATTCTAGTCAAAAG	0.438																																						ENST00000377205.1																			0				large_intestine(2)|lung(2)|stomach(1)	5						c.(403-405)tCt>tGt		nicotinamide nucleotide adenylyltransferase 1							73.0	70.0	71.0					1																	10041193		2203	4300	6503	SO:0001583	missense	64802				water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	g.chr1:10041193C>G	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.404C>G	1.37:g.10041193C>G	ENSP00000366410:p.Ser135Cys					NMNAT1_ENST00000403197.1_Missense_Mutation_p.S135C	p.S135C	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)	4	548	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	135					B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	c.404C>G	CCDS108.1	.	.	.	.	.	.	.	.	.	.	C	5.774	0.327263	0.10900	.	.	ENSG00000173614	ENST00000403197;ENST00000377205	D;D	0.97791	-4.54;-4.54	5.04	1.7	0.24286	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	2.535540	0.01414	N	0.014138	D	0.94440	0.8211	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	D	0.86203	0.1620	10	0.38643	T	0.18	-2.484	3.9829	0.09503	0.0:0.4895:0.2388:0.2717	.	135	Q9HAN9	NMNA1_HUMAN	C	135	ENSP00000385131:S135C;ENSP00000366410:S135C	ENSP00000366410:S135C	S	+	2	0	NMNAT1	9963780	0.000000	0.05858	0.001000	0.08648	0.471000	0.32888	0.425000	0.21346	0.471000	0.27319	0.449000	0.29647	TCT		0.438	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			29	65	0	0	0	1	0	29	65				
ST5	6764	broad.mit.edu	37	11	8752626	8752626	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:8752626G>T	ENST00000534127.1	-	6	596	c.211C>A	c.(211-213)Cac>Aac	p.H71N	ST5_ENST00000357665.1_Missense_Mutation_p.H71N|ST5_ENST00000313726.6_Missense_Mutation_p.H71N|ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	71	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GCTGGGGGGTGCCGGTCCTTG	0.607																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(211-213)Cac>Aac		suppression of tumorigenicity 5							38.0	43.0	41.0					11																	8752626		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752626G>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.211C>A	11.37:g.8752626G>T	ENSP00000433528:p.His71Asn					ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.H71N|ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.H71N	p.H71N	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	596	-			71			Pro-rich.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.211C>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	5.958	0.360806	0.11296	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665;ENST00000528523;ENST00000527930;ENST00000533681;ENST00000526241;ENST00000530959;ENST00000533580;ENST00000526155;ENST00000534248;ENST00000527347;ENST00000533016;ENST00000527516;ENST00000527473;ENST00000530938;ENST00000533471	T;T;T	0.04360	3.64;3.64;3.64	5.64	3.61	0.41365	.	1.295140	0.04672	N	0.410909	T	0.03915	0.0110	N	0.25647	0.755	0.33595	D	0.601617	B	0.02656	0.0	B	0.01281	0.0	T	0.42632	-0.9440	10	0.02654	T	1	-0.2948	6.8582	0.24052	0.0918:0.0:0.542:0.3662	.	71	P78524	ST5_HUMAN	N	71;71;71;71;101;71;71;71;88;71;71;71;91;71;71;71;71	ENSP00000433528:H71N;ENSP00000319678:H71N;ENSP00000350294:H71N	ENSP00000319678:H71N	H	-	1	0	ST5	8709202	1.000000	0.71417	0.936000	0.37596	0.481000	0.33189	5.971000	0.70440	1.385000	0.46445	0.563000	0.77884	CAC		0.607	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		19	42	1	0	1.37657e-19	1	1.47202e-19	19	42				
HNRNPUL2	221092	broad.mit.edu	37	11	62489736	62489736	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62489736G>A	ENST00000301785.5	-	7	1404	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.L404L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	404	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AATTTTTGCAGAGGACATGGG	0.488																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1210-1212)ctC>ctT		heterogeneous nuclear ribonucleoprotein U-like 2							96.0	100.0	99.0					11																	62489736		1918	4120	6038	SO:0001819	synonymous_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62489736G>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1212C>T	11.37:g.62489736G>A						RP11-831H9.16_ENST00000403734.2_Silent_p.L404L	p.L404L	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			7	1404	-			404			B30.2/SPRY.		Q8N3B3	Silent	SNP	ENST00000301785.5	37	c.1212C>T	CCDS41659.1																																																																																				0.488	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		25	104	0	0	0	1	0	25	104				
FBXO18	84893	broad.mit.edu	37	10	5963255	5963255	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:5963255G>A	ENST00000362091.4	+	14	2250	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	FBXO18_ENST00000379999.5_Missense_Mutation_p.G763E|FBXO18_ENST00000397269.3_Missense_Mutation_p.G199E	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	712					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCTTATGTGGGAGCTACTATC	0.448																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(2287-2289)gGa>gAa		F-box protein, helicase, 18							136.0	135.0	135.0					10																	5963255		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5963255G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2135G>A	10.37:g.5963255G>A	ENSP00000355415:p.Gly712Glu					FBXO18_ENST00000397269.3_Missense_Mutation_p.G199E|FBXO18_ENST00000362091.4_Missense_Mutation_p.G712E|FBXO18_ENST00000379994.1_Intron	p.G763E	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			15	2392	+			712					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.2288G>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979977	0.92982	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	D;D;D	0.81821	-1.54;-1.54;-1.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.88994	0.6589	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.983	D	0.88865	0.3329	10	0.87932	D	0	-20.3397	19.3957	0.94605	0.0:0.0:1.0:0.0	.	763;712;638	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	E	199;712;763	ENSP00000380439:G199E;ENSP00000355415:G712E;ENSP00000369335:G763E	ENSP00000355415:G712E	G	+	2	0	FBXO18	6003261	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.575000	0.90766	2.880000	0.98712	0.650000	0.86243	GGA		0.448	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		23	85	0	0	0	1	0	23	85				
MEST	4232	broad.mit.edu	37	7	130138034	130138034	+	Missense_Mutation	SNP	C	C	T	rs551376794		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:130138034C>T	ENST00000223215.4	+	5	615	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	MEST_ENST00000393187.1_Missense_Mutation_p.R123W|MEST_ENST00000378576.4_Missense_Mutation_p.R123W|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000416162.2_Missense_Mutation_p.R123W|MEST_ENST00000437945.1_Missense_Mutation_p.R132W|MEST_ENST00000341441.5_Missense_Mutation_p.R123W|MIR335_ENST00000362173.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	132					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					AGCGCTTTTGCGGCATCTGGG	0.498																																					Colon(126;2182 2305 6517 35181)	ENST00000223215.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12						c.(394-396)Cgg>Tgg		mesoderm specific transcript							83.0	83.0	83.0					7																	130138034		2203	4300	6503	SO:0001583	missense	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130138034C>T		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.394C>T	7.37:g.130138034C>T	ENSP00000223215:p.Arg132Trp					MEST_ENST00000462132.1_3'UTR|MEST_ENST00000393187.1_Missense_Mutation_p.R123W|MEST_ENST00000437945.1_Missense_Mutation_p.R132W|MEST_ENST00000416162.2_Missense_Mutation_p.R123W|MEST_ENST00000378576.4_Missense_Mutation_p.R123W|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000341441.4_Missense_Mutation_p.R123W	p.R132W	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN			5	615	+	Melanoma(18;0.0435)		132					B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	c.394C>T	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318743	0.41096	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000433159;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945;ENST00000437637;ENST00000458161	T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.33	3.36	0.38483	.	0.442058	0.24597	N	0.037170	T	0.56307	0.1976	L	0.39514	1.22	0.34260	D	0.679792	B;B;B;B	0.16603	0.018;0.002;0.001;0.0	B;B;B;B	0.18561	0.022;0.003;0.002;0.001	T	0.65492	-0.6155	10	0.66056	D	0.02	-15.6391	10.736	0.46126	0.1183:0.6332:0.2485:0.0	.	118;132;132;123	B4DQW6;C9JW74;Q5EB52;Q5EB52-3	.;.;MEST_HUMAN;.	W	123;123;123;123;123;123;123;132;132;123;123	ENSP00000342749:R123W;ENSP00000409505:R123W;ENSP00000408933:R123W;ENSP00000367839:R123W;ENSP00000409768:R123W;ENSP00000376884:R123W;ENSP00000407222:R123W;ENSP00000223215:R132W;ENSP00000401657:R132W;ENSP00000393709:R123W	ENSP00000223215:R132W	R	+	1	2	MEST	129925270	1.000000	0.71417	0.999000	0.59377	0.493000	0.33554	2.901000	0.48695	1.378000	0.46305	-0.268000	0.10319	CGG		0.498	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		18	111	0	0	0	1	0	18	111				
SLC4A5	57835	broad.mit.edu	37	2	74491407	74491407	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:74491407C>A	ENST00000377634.4	-	10	981	c.582G>T	c.(580-582)caG>caT	p.Q194H	SLC4A5_ENST00000358683.4_Missense_Mutation_p.Q130H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Q194H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.Q194H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Q130H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Q194H|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.Q194H|SLC4A5_ENST00000423644.1_Missense_Mutation_p.Q194H|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CATCCTCAATCTGCTTCTCAA	0.537																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(580-582)caG>caT		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							118.0	108.0	111.0					2																	74491407		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74491407C>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.582G>T	2.37:g.74491407C>A	ENSP00000366861:p.Gln194His					RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.Q194H|SLC4A5_ENST00000377632.1_Missense_Mutation_p.Q194H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.Q194H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Q130H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.Q130H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Q194H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Q194H|SLC4A5_ENST00000483195.1_5'UTR	p.Q194H	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			10	979	-			194						Missense_Mutation	SNP	ENST00000377634.4	37	c.582G>T	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473742	0.43942	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000432728	T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	4.72	2.77	0.32553	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	M	0.78049	2.395	0.36990	D	0.894734	P;D;B;D;P	0.76494	0.48;0.998;0.2;0.999;0.574	B;D;B;D;B	0.91635	0.29;0.998;0.211;0.999;0.401	T	0.77327	-0.2629	10	0.54805	T	0.06	.	5.1656	0.15084	0.0:0.5582:0.0:0.4418	.	194;194;130;194;194	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	H	194;194;194;130;194;130;194;194;194;194;78	ENSP00000377587:Q194H;ENSP00000251768:Q194H;ENSP00000352461:Q130H;ENSP00000395804:Q194H;ENSP00000351513:Q130H;ENSP00000350475:Q194H;ENSP00000366859:Q194H;ENSP00000366861:Q194H;ENSP00000405678:Q194H;ENSP00000414162:Q78H	ENSP00000251768:Q194H	Q	-	3	2	SLC4A5	74344915	1.000000	0.71417	0.997000	0.53966	0.493000	0.33554	1.082000	0.30803	0.594000	0.29761	-0.136000	0.14681	CAG		0.537	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			13	36	1	0	7.03913e-09	1	7.3137e-09	13	36				
DTX3	196403	broad.mit.edu	37	12	58002900	58002900	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:58002900G>A	ENST00000548198.1	+	5	2513	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	DTX3_ENST00000548804.1_Missense_Mutation_p.E337K|ARHGEF25_ENST00000286494.4_5'Flank|DTX3_ENST00000551632.1_Missense_Mutation_p.E340K|ARHGEF25_ENST00000333972.7_5'Flank|AC025165.8_ENST00000356672.3_RNA|DTX3_ENST00000337737.3_Missense_Mutation_p.E337K			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	337					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCGGGTGCAAGAGGAGCTGAG	0.547																																						ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(1009-1011)Gag>Aag		deltex homolog 3 (Drosophila)							112.0	114.0	113.0					12																	58002900		1975	4156	6131	SO:0001583	missense	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58002900G>A	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.1009G>A	12.37:g.58002900G>A	ENSP00000447873:p.Glu337Lys					DTX3_ENST00000337737.3_Missense_Mutation_p.E337K|DTX3_ENST00000548804.1_Missense_Mutation_p.E337K|DTX3_ENST00000551632.1_Missense_Mutation_p.E340K	p.E337K			Q8N9I9	DTX3_HUMAN			5	2513	+	Melanoma(17;0.122)		337					Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	ENST00000548198.1	37	c.1009G>A	CCDS41800.1	.	.	.	.	.	.	.	.	.	.	g	14.18	2.459913	0.43736	.	.	ENSG00000178498	ENST00000548804;ENST00000337737;ENST00000548198;ENST00000551632	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.19	3.19	0.36642	.	0.147142	0.43416	U	0.000577	T	0.41581	0.1165	M	0.69185	2.1	0.58432	D	0.999999	B	0.26902	0.163	B	0.26517	0.07	T	0.44283	-0.9338	10	0.37606	T	0.19	.	13.9819	0.64310	0.0:0.0:1.0:0.0	.	337	Q8N9I9	DTX3_HUMAN	K	337;337;337;340	ENSP00000449294:E337K;ENSP00000338050:E337K;ENSP00000447873:E337K;ENSP00000448696:E340K	ENSP00000338050:E337K	E	+	1	0	DTX3	56289167	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	5.945000	0.70226	1.751000	0.51876	0.586000	0.80456	GAG		0.547	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		5	50	0	0	0	1	0	5	50				
EOMES	8320	broad.mit.edu	37	3	27758815	27758815	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:27758815C>T	ENST00000295743.4	-	6	2010	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	EOMES_ENST00000537516.1_Missense_Mutation_p.D327N|EOMES_ENST00000449599.1_Missense_Mutation_p.D622N|EOMES_ENST00000461503.1_5'Flank			O95936	EOMES_HUMAN	eomesodermin	603	Required for transcription activation. {ECO:0000250}.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAGAGCTGATCTTCAGAGAAC	0.493																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(1807-1809)Gat>Aat		eomesodermin							89.0	93.0	92.0					3																	27758815		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27758815C>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1807G>A	3.37:g.27758815C>T	ENSP00000295743:p.Asp603Asn					EOMES_ENST00000537516.1_Missense_Mutation_p.D327N|EOMES_ENST00000449599.1_Missense_Mutation_p.D622N	p.D603N			O95936	EOMES_HUMAN			6	2010	-			603			Required for transcription activation (By similarity).		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.1807G>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834126	0.71373	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.86030	-2.04;-2.06;-1.74	5.05	5.05	0.67936	.	0.107337	0.64402	D	0.000004	D	0.91236	0.7238	M	0.65498	2.005	0.80722	D	1	P;D;D	0.71674	0.82;0.983;0.998	P;P;D	0.65987	0.552;0.857;0.94	D	0.91067	0.4890	10	0.52906	T	0.07	.	19.3091	0.94177	0.0:1.0:0.0:0.0	.	336;622;603	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	N	603;622;327;487	ENSP00000295743:D603N;ENSP00000388620:D622N;ENSP00000442097:D327N	ENSP00000295743:D603N	D	-	1	0	EOMES	27733819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.678000	0.68153	2.724000	0.93272	0.563000	0.77884	GAT		0.493	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		19	86	0	0	0	1	0	19	86				
FAM129C	199786	broad.mit.edu	37	19	17664289	17664289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:17664289C>T	ENST00000335393.4	+	16	2149	c.2011C>T	c.(2011-2013)Cag>Tag	p.Q671*	COLGALT1_ENST00000252599.4_5'Flank|FAM129C_ENST00000601861.1_Nonsense_Mutation_p.Q640*|FAM129C_ENST00000449408.2_Nonsense_Mutation_p.Q397*	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	671										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GTTCTTGGTTCAGCTTGCAGA	0.522																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(2011-2013)Cag>Tag		family with sequence similarity 129, member C							184.0	160.0	168.0					19																	17664289		2203	4300	6503	SO:0001587	stop_gained	199786							g.chr19:17664289C>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.2011C>T	19.37:g.17664289C>T	ENSP00000335040:p.Gln671*					FAM129C_ENST00000449408.2_Nonsense_Mutation_p.Q397*|FAM129C_ENST00000601861.1_Nonsense_Mutation_p.Q640*	p.Q671*	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			16	2149	+			671					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Nonsense_Mutation	SNP	ENST00000335393.4	37	c.2011C>T	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	C	38	7.219259	0.98143	.	.	ENSG00000167483	ENST00000335393;ENST00000449408	.	.	.	2.2	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.41574	D	0.988709	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	4.8585	0.13571	0.0:0.8209:0.0:0.1791	.	.	.	.	X	671;397	.	ENSP00000335040:Q671X	Q	+	1	0	FAM129C	17525289	0.332000	0.24722	0.877000	0.34402	0.152000	0.21847	0.921000	0.28718	0.524000	0.28502	0.306000	0.20318	CAG		0.522	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		28	109	0	0	0	1	0	28	109				
NUP93	9688	broad.mit.edu	37	16	56782220	56782220	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:56782220G>C	ENST00000308159.5	+	2	182	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	NUP93_ENST00000569842.1_Missense_Mutation_p.E21Q	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	21					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGCTGAGACTGAGGGCATCTC	0.537																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(61-63)Gag>Cag		nucleoporin 93kDa							66.0	63.0	64.0					16																	56782220		2198	4300	6498	SO:0001583	missense	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782220G>C	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.61G>C	16.37:g.56782220G>C	ENSP00000310668:p.Glu21Gln					NUP93_ENST00000308159.5_Missense_Mutation_p.E21Q	p.E21Q			Q8N1F7	NUP93_HUMAN			2	157	+			21					B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	c.61G>C	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745680	0.69418	.	.	ENSG00000102900	ENST00000308159	T	0.43294	0.95	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	L	0.28014	0.82	0.80722	D	1	B	0.16396	0.017	B	0.14023	0.01	T	0.13045	-1.0524	10	0.14656	T	0.56	-27.6699	20.8598	0.99761	0.0:0.0:1.0:0.0	.	21	Q8N1F7	NUP93_HUMAN	Q	21	ENSP00000310668:E21Q	ENSP00000310668:E21Q	E	+	1	0	NUP93	55339721	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.685000	0.98661	2.937000	0.99478	0.650000	0.86243	GAG		0.537	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		18	78	0	0	0	1	0	18	78				
ROCK2	9475	broad.mit.edu	37	2	11355687	11355687	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:11355687G>C	ENST00000315872.6	-	14	1994	c.1546C>G	c.(1546-1548)Cag>Gag	p.Q516E	ROCK2_ENST00000401753.1_Missense_Mutation_p.Q273E	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	516	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GCTTTCCTCTGATATTCTGCA	0.333																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(1546-1548)Cag>Gag		Rho-associated, coiled-coil containing protein kinase 2							98.0	96.0	97.0					2																	11355687		1819	4085	5904	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11355687G>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1546C>G	2.37:g.11355687G>C	ENSP00000317985:p.Gln516Glu					ROCK2_ENST00000401753.1_Missense_Mutation_p.Q273E	p.Q516E	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	14	1994	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		516			Interaction with PPP1R12A.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.1546C>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354419	0.82243	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	T;T	0.80393	-1.37;-1.37	4.9	4.9	0.64082	.	0.171825	0.51477	D	0.000081	T	0.80839	0.4700	L	0.54323	1.7	0.48511	D	0.999667	P	0.45768	0.866	P	0.46208	0.507	T	0.78590	-0.2145	10	0.25106	T	0.35	.	18.4356	0.90645	0.0:0.0:1.0:0.0	.	516	O75116	ROCK2_HUMAN	E	516;273	ENSP00000317985:Q516E;ENSP00000385509:Q273E	ENSP00000317985:Q516E	Q	-	1	0	ROCK2	11273138	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.779000	0.99018	2.434000	0.82447	0.655000	0.94253	CAG		0.333	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			26	130	0	0	0	1	0	26	130				
ALDOA	226	broad.mit.edu	37	16	30081230	30081230	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:30081230G>A	ENST00000566897.1	+	11	2031	c.879G>A	c.(877-879)ctG>ctA	p.L293L	ALDOA_ENST00000564546.1_Silent_p.L293L|ALDOA_ENST00000569798.1_Silent_p.L293L|ALDOA_ENST00000395248.1_Silent_p.L347L|ALDOA_ENST00000412304.2_Silent_p.L293L|ALDOA_ENST00000564595.2_Silent_p.L347L|ALDOA_ENST00000395240.3_Silent_p.L297L|ALDOA_ENST00000338110.5_Silent_p.L293L|ALDOA_ENST00000563060.2_Silent_p.L293L|ALDOA_ENST00000569545.1_Silent_p.L293L			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	293					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCCCCCTGCTGAAGCCCTGGG	0.637																																						ENST00000566897.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(877-879)ctG>ctA		aldolase A, fructose-bisphosphate							51.0	50.0	51.0					16																	30081230		2197	4300	6497	SO:0001819	synonymous_variant	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30081230G>A	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.879G>A	16.37:g.30081230G>A						ALDOA_ENST00000569798.1_Silent_p.L293L|ALDOA_ENST00000569545.1_Silent_p.L293L|ALDOA_ENST00000563060.2_Silent_p.L293L|ALDOA_ENST00000338110.5_Silent_p.L293L|ALDOA_ENST00000395240.3_Silent_p.L297L|ALDOA_ENST00000564595.2_Silent_p.L347L|ALDOA_ENST00000395248.1_Silent_p.L347L|ALDOA_ENST00000564546.1_Silent_p.L293L|ALDOA_ENST00000412304.2_Silent_p.L293L	p.L293L			P04075	ALDOA_HUMAN			11	2031	+			293					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Silent	SNP	ENST00000566897.1	37	c.879G>A	CCDS10668.1																																																																																				0.637	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		14	40	0	0	0	1	0	14	40				
SLC9A5	6553	broad.mit.edu	37	16	67293492	67293492	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:67293492C>T	ENST00000299798.11	+	11	1708	c.1643C>T	c.(1642-1644)tCt>tTt	p.S548F	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	548					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CACGTCTTGTCTTCCACAGGT	0.522																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1642-1644)tCt>tTt		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							80.0	83.0	82.0					16																	67293492		2089	4213	6302	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67293492C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1643C>T	16.37:g.67293492C>T	ENSP00000299798:p.Ser548Phe						p.S548F	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	11	1708	+		Ovarian(137;0.0563)	548					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1643C>T	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253769	0.59212	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.58506	0.33	4.82	4.82	0.62117	.	0.386355	0.27122	N	0.020829	T	0.74099	0.3672	M	0.75447	2.3	0.51233	D	0.999919	D;B	0.71674	0.998;0.244	P;B	0.62560	0.904;0.055	T	0.77773	-0.2462	10	0.87932	D	0	.	17.4213	0.87516	0.0:1.0:0.0:0.0	.	36;548	F8WDV9;Q14940	.;SL9A5_HUMAN	F	548;36	ENSP00000299798:S548F	ENSP00000299798:S548F	S	+	2	0	SLC9A5	65850993	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	6.529000	0.73812	2.675000	0.91044	0.462000	0.41574	TCT		0.522	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			14	37	0	0	0	1	0	14	37				
ZNF217	7764	broad.mit.edu	37	20	52198540	52198540	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:52198540G>A	ENST00000371471.2	-	2	1251	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	ZNF217_ENST00000302342.3_Missense_Mutation_p.H276Y|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	276					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTTTCAGGGTGAGATTTTGGT	0.547																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(826-828)Cac>Tac		zinc finger protein 217							107.0	101.0	103.0					20																	52198540		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198540G>A	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.826C>T	20.37:g.52198540G>A	ENSP00000360526:p.His276Tyr					ZNF217_ENST00000302342.3_Missense_Mutation_p.H276Y	p.H276Y			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1251	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		276					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.826C>T	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	1.218	-0.627858	0.03610	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08282	3.11;3.11	5.7	2.37	0.29283	.	0.914581	0.09464	N	0.798541	T	0.08537	0.0212	L	0.54323	1.7	0.09310	N	1	B	0.24533	0.105	B	0.22601	0.04	T	0.42849	-0.9427	10	0.17369	T	0.5	-11.8178	6.2289	0.20724	0.0749:0.0984:0.5568:0.2699	.	276	O75362	ZN217_HUMAN	Y	276	ENSP00000360526:H276Y;ENSP00000304308:H276Y	ENSP00000304308:H276Y	H	-	1	0	ZNF217	51631947	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.016000	0.13377	0.707000	0.31934	0.591000	0.81541	CAC		0.547	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		31	125	0	0	0	1	0	31	125				
ZNF831	128611	broad.mit.edu	37	20	57769308	57769308	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:57769308C>T	ENST00000371030.2	+	1	3234	c.3234C>T	c.(3232-3234)ctC>ctT	p.L1078L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1078							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)					TCCATCGCCTCTGCATGGGCA	0.637																																						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.(3232-3234)ctC>ctT		zinc finger protein 831							33.0	37.0	36.0					20																	57769308		2043	4207	6250	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769308C>T	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.3234C>T	20.37:g.57769308C>T							p.L1078L	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3234	+	all_lung(29;0.0085)		1078					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3234C>T	CCDS42894.1																																																																																				0.637	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		4	20	0	0	0	1	0	4	20				
RBM47	54502	broad.mit.edu	37	4	40439927	40439927	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:40439927C>T	ENST00000381793.2	-	3	1380	c.984G>A	c.(982-984)caG>caA	p.Q328Q	RBM47_ENST00000319592.4_Silent_p.Q328Q|RBM47_ENST00000295971.7_Silent_p.Q328Q|RBM47_ENST00000514014.1_Silent_p.Q290Q|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.Q328Q			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	328					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGGCTGCCTTCTGGTAGCGCG	0.652																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(982-984)caG>caA		RNA binding motif protein 47							41.0	39.0	40.0					4																	40439927		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40439927C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.984G>A	4.37:g.40439927C>T						RBM47_ENST00000295971.7_Silent_p.Q328Q|RBM47_ENST00000381795.6_Silent_p.Q328Q|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.Q290Q|RBM47_ENST00000381793.2_Silent_p.Q328Q	p.Q328Q			A0AV96	RBM47_HUMAN			4	1693	-			328					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.984G>A	CCDS43223.1																																																																																				0.652	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		14	46	0	0	0	1	0	14	46				
FAM118A	55007	broad.mit.edu	37	22	45719278	45719278	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:45719278C>T	ENST00000216214.3	+	4	1104	c.270C>T	c.(268-270)gtC>gtT	p.V90V	FAM118A_ENST00000405673.1_Silent_p.V90V|FAM118A_ENST00000441876.2_Silent_p.V90V	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	90						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGTTGGTTGTCGCCCATGATC	0.572																																						ENST00000216214.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(268-270)gtC>gtT		family with sequence similarity 118, member A							75.0	70.0	72.0					22																	45719278		2203	4300	6503	SO:0001819	synonymous_variant	55007					integral to membrane		g.chr22:45719278C>T	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.270C>T	22.37:g.45719278C>T						FAM118A_ENST00000441876.2_Silent_p.V90V|FAM118A_ENST00000405673.1_Silent_p.V90V	p.V90V	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	4	1104	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	90					B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	c.270C>T	CCDS14065.1																																																																																				0.572	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		19	58	0	0	0	1	0	19	58				
PCSK2	5126	broad.mit.edu	37	20	17417514	17417514	+	Missense_Mutation	SNP	G	G	A	rs540431424		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:17417514G>A	ENST00000262545.2	+	8	1186	c.871G>A	c.(871-873)Gat>Aat	p.D291N	PCSK2_ENST00000536609.1_Missense_Mutation_p.D256N|PCSK2_ENST00000377899.1_Missense_Mutation_p.D272N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	291	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGCCATGGCCGATGGCGTGAA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		17401	0.0		0.0	False		,,,				2504	0.001					ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(871-873)Gat>Aat		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						25.0	25.0	25.0					20																	17417514		2203	4298	6501	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17417514G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.871G>A	20.37:g.17417514G>A	ENSP00000262545:p.Asp291Asn					PCSK2_ENST00000377899.1_Missense_Mutation_p.D272N|PCSK2_ENST00000536609.1_Missense_Mutation_p.D256N	p.D291N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			8	1186	+			291			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.871G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103981	0.56291	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87412	-2.25;-2.25;-2.25	5.38	5.38	0.77491	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.71409	0.3336	N	0.03948	-0.315	0.80722	D	1	B;B	0.21520	0.057;0.028	B;B	0.21708	0.036;0.016	T	0.69431	-0.5147	10	0.02654	T	1	-28.3751	17.6879	0.88261	0.0:0.0:1.0:0.0	.	256;291	B4DFQ3;P16519	.;NEC2_HUMAN	N	272;291;256	ENSP00000367131:D272N;ENSP00000262545:D291N;ENSP00000437458:D256N	ENSP00000262545:D291N	D	+	1	0	PCSK2	17365514	1.000000	0.71417	0.092000	0.20876	0.980000	0.70556	7.597000	0.82733	2.519000	0.84933	0.655000	0.94253	GAT		0.632	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		8	28	0	0	0	1	0	8	28				
NUP153	9972	broad.mit.edu	37	6	17629246	17629246	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:17629246G>C	ENST00000262077.2	-	18	3183	c.3184C>G	c.(3184-3186)Cct>Gct	p.P1062A	NUP153_ENST00000537253.1_Missense_Mutation_p.P1093A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1062					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CATGTGAAAGGAGCCACTGAA	0.478																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(3184-3186)Cct>Gct		nucleoporin 153kDa							97.0	91.0	93.0					6																	17629246		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17629246G>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3184C>G	6.37:g.17629246G>C	ENSP00000262077:p.Pro1062Ala					NUP153_ENST00000537253.1_Missense_Mutation_p.P1093A	p.P1062A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		18	3183	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1062					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.3184C>G	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	5.992	0.366872	0.11352	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.07021	3.24;3.23	5.57	4.71	0.59529	.	0.000000	0.47852	D	0.000209	T	0.01661	0.0053	L	0.48362	1.52	0.30765	N	0.743647	B;B;B	0.25441	0.126;0.036;0.077	B;B;B	0.17433	0.018;0.008;0.008	T	0.44112	-0.9349	10	0.08381	T	0.77	-12.2663	3.0142	0.06054	0.148:0.2389:0.4829:0.1303	.	1093;1042;1062	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	A	1062;1042;1093	ENSP00000262077:P1062A;ENSP00000444029:P1093A	ENSP00000262077:P1062A	P	-	1	0	NUP153	17737225	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	1.304000	0.33482	1.359000	0.45940	-0.136000	0.14681	CCT		0.478	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			33	103	0	0	0	1	0	33	103				
DNAH3	55567	broad.mit.edu	37	16	21151926	21151926	+	Silent	SNP	G	G	A	rs201448297		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:21151926G>A	ENST00000261383.3	-	5	626	c.627C>T	c.(625-627)ctC>ctT	p.L209L	DNAH3_ENST00000415178.1_Silent_p.L209L|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	209	Stem. {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)|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)		ACATGACATCGAGCTGCTGTT	0.483																																						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.(625-627)ctC>ctT		dynein, axonemal, heavy chain 3							269.0	216.0	234.0					16																	21151926		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.chr16:21151926G>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.627C>T	16.37:g.21151926G>A						DNAH3_ENST00000415178.1_Silent_p.L209L|DNAH3_ENST00000575491.1_5'UTR	p.L209L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	5	626	-			209			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.627C>T	CCDS10594.1																																																																																				0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		29	79	0	0	0	1	0	29	79				
PTPRJ	5795	broad.mit.edu	37	11	48157658	48157658	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:48157658G>C	ENST00000418331.2	+	9	2035	c.1683G>C	c.(1681-1683)aaG>aaC	p.K561N		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	561	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGACTGGAAGAGCCCTGACG	0.507																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1681-1683)aaG>aaC		protein tyrosine phosphatase, receptor type, J							153.0	131.0	139.0					11																	48157658		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48157658G>C	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1683G>C	11.37:g.48157658G>C	ENSP00000400010:p.Lys561Asn						p.K561N	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			9	2035	+			561			Fibronectin type-III 6.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.1683G>C	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853510	0.32791	.	.	ENSG00000149177	ENST00000418331	T	0.58060	0.36	5.62	3.75	0.43078	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47229	0.1434	L	0.54323	1.7	0.41788	D	0.989854	P	0.37731	0.607	B	0.42692	0.395	T	0.32719	-0.9896	9	0.17369	T	0.5	.	7.511	0.27573	0.1871:0.0:0.8129:0.0	.	561	Q12913	PTPRJ_HUMAN	N	561	ENSP00000400010:K561N	ENSP00000400010:K561N	K	+	3	2	PTPRJ	48114234	0.546000	0.26457	0.215000	0.23724	0.004000	0.04260	1.357000	0.34090	1.392000	0.46585	0.591000	0.81541	AAG		0.507	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			23	94	0	0	0	1	0	23	94				
TMEM223	79064	broad.mit.edu	37	11	62559383	62559383	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62559383C>T	ENST00000307366.7	-	1	110	c.84G>A	c.(82-84)acG>acA	p.T28T	NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000525631.1_Silent_p.T28T	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	28			T -> A (in dbSNP:rs2584918). {ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)											GTTGCAGCGTCGTGCCTTGCA	0.692																																						ENST00000307366.7																			0											c.(82-84)acG>acA		transmembrane protein 223							16.0	21.0	19.0					11																	62559383		1966	4150	6116	SO:0001819	synonymous_variant	79064					integral to membrane		g.chr11:62559383C>T		CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.84G>A	11.37:g.62559383C>T						TMEM223_ENST00000525631.1_Silent_p.T28T	p.T28T	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN			1	110	-			28		T -> A (in dbSNP:rs2584918).			Q504S0|Q86YD4|Q8WUC5|Q96HG0	Silent	SNP	ENST00000307366.7	37	c.84G>A	CCDS44628.1	.	.	.	.	.	.	.	.	.	.	C	6.976	0.550012	0.13374	.	.	ENSG00000168569	ENST00000528367	.	.	.	5.7	0.365	0.16131	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	18.7803	5.4437	0.16523	0.1342:0.3622:0.4255:0.0781	.	.	.	.	N	28	.	.	D	-	1	0	TMEM223	62315959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.256000	0.08757	-0.168000	0.10853	-0.314000	0.08810	GAC		0.692	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395674.1			4	9	0	0	0	1	0	4	9				
POU2F3	25833	broad.mit.edu	37	11	120170351	120170351	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:120170351C>G	ENST00000543440.2	+	5	427	c.277C>G	c.(277-279)Ccg>Gcg	p.P93A	POU2F3_ENST00000260264.4_Missense_Mutation_p.P95A	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	93					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTCCCTCCATCCGCTCCAGCA	0.577											OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(283-285)Ccg>Gcg		POU class 2 homeobox 3							127.0	103.0	111.0					11																	120170351		2203	4300	6503	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120170351C>G	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.277C>G	11.37:g.120170351C>G	ENSP00000441687:p.Pro93Ala		OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1501	POU2F3_ENST00000543440.2_Missense_Mutation_p.P93A	p.P95A	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	5	317	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	93					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.283C>G	CCDS8431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.35|13.35	2.212306|2.212306	0.39102|0.39102	.|.	.|.	ENSG00000137709|ENSG00000137709	ENST00000543440;ENST00000260264|ENST00000533620	D;D|D	0.81659|0.84370	-1.52;-1.51|-1.84	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.225469|.	0.22840|.	N|.	0.055000|.	T|T	0.79040|0.79040	0.4379|0.4379	L|L	0.29908|0.29908	0.895|0.895	0.35427|0.35427	D|D	0.793719|0.793719	B|B	0.25667|0.32425	0.131|0.371	B|B	0.22386|0.35971	0.039|0.215	T|T	0.83322|0.83322	-0.0017|-0.0017	10|9	0.27785|0.52906	T|T	0.31|0.07	.|.	12.5736|12.5736	0.56352|0.56352	0.1775:0.8225:0.0:0.0|0.1775:0.8225:0.0:0.0	.|.	93|31	Q9UKI9|E9PIN6	PO2F3_HUMAN|.	A|C	95;93|31	ENSP00000441687:P95A;ENSP00000260264:P93A|ENSP00000435738:S31C	ENSP00000260264:P93A|ENSP00000435738:S31C	P|S	+|+	1|2	0|0	POU2F3|POU2F3	119675561|119675561	0.069000|0.069000	0.21087|0.21087	0.928000|0.928000	0.36995|0.36995	0.997000|0.997000	0.91878|0.91878	2.689000|2.689000	0.46993|0.46993	2.545000|2.545000	0.85829|0.85829	0.563000|0.563000	0.77884|0.77884	CCG|TCC		0.577	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			24	33	0	0	0	1	0	24	33				
ADCY8	114	broad.mit.edu	37	8	131826440	131826440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:131826440G>A	ENST00000286355.5	-	14	4880	c.2788C>T	c.(2788-2790)Cga>Tga	p.R930*	ADCY8_ENST00000377928.3_Nonsense_Mutation_p.R799*	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	930					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R930*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCCTGTACTCGCCAAAGGAAG	0.512										HNSCC(32;0.087)																												ENST00000286355.5																			1	Substitution - Nonsense(1)	p.R930*(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2788-2790)Cga>Tga		adenylate cyclase 8 (brain)							161.0	127.0	139.0					8																	131826440		2203	4300	6503	SO:0001587	stop_gained	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131826440G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2788C>T	8.37:g.131826440G>A	ENSP00000286355:p.Arg930*	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Nonsense_Mutation_p.R799*	p.R930*	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		14	4880	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		930						Nonsense_Mutation	SNP	ENST00000286355.5	37	c.2788C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	55	24.084376	0.99958	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	.	.	.	5.87	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	14.2701	0.66147	0.0:0.0:0.8513:0.1487	.	.	.	.	X	930;799	.	ENSP00000286355:R930X	R	-	1	2	ADCY8	131895622	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.346000	0.72999	1.615000	0.50252	0.655000	0.94253	CGA		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			21	87	0	0	0	1	0	21	87				
PRKCQ	5588	broad.mit.edu	37	10	6527218	6527218	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:6527218C>G	ENST00000263125.5	-	10	1013	c.914G>C	c.(913-915)aGa>aCa	p.R305T	PRKCQ_ENST00000397176.2_Missense_Mutation_p.R305T|PRKCQ_ENST00000539722.1_Missense_Mutation_p.R180T	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	305					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TTCAGTATCTCTTAAGCAGCG	0.507																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(913-915)aGa>aCa		protein kinase C, theta							123.0	117.0	119.0					10																	6527218		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6527218C>G	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.914G>C	10.37:g.6527218C>G	ENSP00000263125:p.Arg305Thr					PRKCQ_ENST00000539722.1_Missense_Mutation_p.R180T|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R305T	p.R305T	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			10	1013	-			305					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.914G>C	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.031|8.031	0.761681|0.761681	0.15914|0.15914	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|T;T;T	.|0.68479	.|-0.33;-0.28;-0.32	5.22|5.22	4.32|4.32	0.51571|0.51571	.|.	.|0.095452	.|0.64402	.|D	.|0.000001	T|T	0.50922|0.50922	0.1644|0.1644	L|L	0.36672|0.36672	1.1|1.1	0.41681|0.41681	D|D	0.989291|0.989291	.|B;B;B;B	.|0.31125	.|0.001;0.004;0.004;0.309	.|B;B;B;B	.|0.19666	.|0.004;0.004;0.008;0.026	T|T	0.49744|0.49744	-0.8907|-0.8907	5|10	.|0.33940	.|T	.|0.23	.|.	9.6849|9.6849	0.40091|0.40091	0.0:0.841:0.0:0.159|0.0:0.841:0.0:0.159	.|.	.|180;77;305;305	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	Q|T	78|305;305;180	.|ENSP00000263125:R305T;ENSP00000380361:R305T;ENSP00000441752:R180T	.|ENSP00000263125:R305T	E|R	-|-	1|2	0|0	PRKCQ|PRKCQ	6567224|6567224	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.237000|0.237000	0.25408|0.25408	3.677000|3.677000	0.54619|0.54619	1.341000|1.341000	0.45600|0.45600	-0.136000|-0.136000	0.14681|0.14681	GAG|AGA		0.507	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		34	81	0	0	0	1	0	34	81				
C9orf3	84909	broad.mit.edu	37	9	97823003	97823003	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:97823003C>T	ENST00000375315.2	+	13	2143	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	C9orf3_ENST00000425634.2_Silent_p.L77L|C9orf3_ENST00000297979.5_Silent_p.L616L|C9orf3_ENST00000433691.2_Silent_p.L56L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	715					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGTCTTGCTTCTGGAGCATCT	0.488																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2143-2145)Ctg>Ttg		chromosome 9 open reading frame 3							118.0	106.0	111.0					9																	97823003		2203	4300	6503	SO:0001819	synonymous_variant	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97823003C>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2143C>T	9.37:g.97823003C>T						C9orf3_ENST00000297979.5_Silent_p.L616L|C9orf3_ENST00000425634.2_Silent_p.L77L|C9orf3_ENST00000433691.2_Silent_p.L56L	p.L715L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	13	2143	+			715					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Silent	SNP	ENST00000375315.2	37	c.2143C>T	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	9.765	1.171179	0.21621	.	.	ENSG00000148120	ENST00000445181	.	.	.	5.34	0.156	0.14910	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47873	-0.9083	4	.	.	.	-11.185	9.3094	0.37895	0.0:0.6297:0.0:0.3703	.	.	.	.	F	79	.	.	S	+	2	0	C9orf3	96862824	0.997000	0.39634	0.994000	0.49952	0.998000	0.95712	0.311000	0.19380	-0.057000	0.13199	0.650000	0.86243	TCT		0.488	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		23	77	0	0	0	1	0	23	77				
ACTN3	89	broad.mit.edu	37	11	66326809	66326809	+	lincRNA	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:66326809C>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000502692.1_RNA|ACTN3_ENST00000513398.1_RNA																							GACCTGGCGGCGCACCAGGAC	0.721																																						ENST00000504911.1																			0																				22.0	26.0	24.0					11																	66326809		2192	4287	6479			89							g.chr11:66326809C>T																													11.37:g.66326809C>T						ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA								0	220	-									RNA	SNP	ENST00000504911.1	37																																																																																						0.721	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			4	24	0	0	0	1	0	4	24				
PPP5C	5536	broad.mit.edu	37	19	46857086	46857086	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46857086G>T	ENST00000012443.4	+	2	306	c.203G>T	c.(202-204)cGc>cTc	p.R68L	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	68					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TATGGCAACCGCAGCCTGGCC	0.572																																						ENST00000012443.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(202-204)cGc>cTc		protein phosphatase 5, catalytic subunit							64.0	45.0	51.0					19																	46857086		2203	4300	6503	SO:0001583	missense	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46857086G>T		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.203G>T	19.37:g.46857086G>T	ENSP00000012443:p.Arg68Leu					PPP5C_ENST00000391919.1_5'UTR	p.R68L	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	2	306	+		Ovarian(192;0.0731)|all_neural(266;0.196)	68					Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	c.203G>T	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226658	0.95173	.	.	ENSG00000011485	ENST00000012443	T	0.55413	0.52	5.01	5.01	0.66863	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83935	0.0308	10	0.62326	D	0.03	-19.9359	16.1918	0.81996	0.0:0.0:1.0:0.0	.	68;68	B2R6R6;P53041	.;PPP5_HUMAN	L	68	ENSP00000012443:R68L	ENSP00000012443:R68L	R	+	2	0	PPP5C	51548926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.038000	0.93771	2.490000	0.84030	0.563000	0.77884	CGC		0.572	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		5	15	1	0	0.014758	1	0.0148765	5	15				
CACNA1I	8911	broad.mit.edu	37	22	40037145	40037145	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:40037145C>G	ENST00000402142.3	+	6	1014	c.1014C>G	c.(1012-1014)atC>atG	p.I338M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.I338M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000336649.4_Missense_Mutation_p.I338M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I338M	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	338					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGGTGCCATCAACTTTGACA	0.602																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1012-1014)atC>atG		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						68.0	71.0	70.0					22																	40037145		2069	4193	6262	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40037145C>G	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1014C>G	22.37:g.40037145C>G	ENSP00000385019:p.Ile338Met					CACNA1I_ENST00000402142.3_Missense_Mutation_p.I338M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I338M|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I338M	p.I338M			Q9P0X4	CAC1I_HUMAN			8	1014	+	Melanoma(58;0.0749)		338					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.1014C>G	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976410	0.74360	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	5.21	5.21	0.72293	Ion transport (1);	0.054208	0.64402	D	0.000001	D	0.98845	0.9610	M	0.76727	2.345	0.48452	D	0.99965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.99882	1.1115	10	0.72032	D	0.01	.	18.7618	0.91855	0.0:1.0:0.0:0.0	.	338;338;338;338	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	M	338	ENSP00000385019:I338M;ENSP00000384093:I338M;ENSP00000383887:I338M;ENSP00000385680:I338M;ENSP00000337829:I338M;ENSP00000383028:I338M	ENSP00000337829:I338M	I	+	3	3	CACNA1I	38367091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.359000	0.44142	2.445000	0.82738	0.563000	0.77884	ATC		0.602	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		14	68	0	0	0	1	0	14	68				
DCLRE1C	64421	broad.mit.edu	37	10	14950616	14950616	+	Missense_Mutation	SNP	G	G	C	rs11259389	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:14950616G>C	ENST00000378278.2	-	14	1907	c.1870C>G	c.(1870-1872)Cta>Gta	p.L624V	DCLRE1C_ENST00000378249.1_Missense_Mutation_p.L509V|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.L509V|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.L509V|DCLRE1C_ENST00000492201.1_5'Flank|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.L277V|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.L504V|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.L504V			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	624					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCACTGCTTAGAGTAGTTGGT	0.388								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(1510-1512)Cta>Gta	Non-homologous end-joining	DNA cross-link repair 1C							186.0	185.0	185.0					10																	14950616		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14950616G>C	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1870C>G	10.37:g.14950616G>C	ENSP00000367527:p.Leu624Val					DCLRE1C_ENST00000378246.2_Missense_Mutation_p.L509V|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.L624V|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.L509V|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.L277V|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.L504V|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.L509V	p.L504V	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			14	1954	-			624					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.1510C>G	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.193376	0.00302	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.18	-10.4	0.00318	.	1.155570	0.06481	N	0.732943	T	0.17280	0.0415	L	0.42245	1.32	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.14615	-1.0466	10	0.30854	T	0.27	.	10.014	0.42003	0.1183:0.5568:0.1454:0.1795	.	509;624	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	V	504;509;509;509;504;504;504;624;504;277	ENSP00000400529:L504V;ENSP00000367492:L509V;ENSP00000350349:L509V;ENSP00000367496:L509V;ENSP00000380030:L504V;ENSP00000367503:L504V;ENSP00000367502:L504V;ENSP00000367527:L624V;ENSP00000367506:L504V;ENSP00000367488:L277V	ENSP00000350349:L509V	L	-	1	2	DCLRE1C	14990622	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.971000	0.00322	-3.324000	0.00187	-1.504000	0.00955	CTA		0.388	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		43	167	0	0	0	1	0	43	167				
PTPRG	5793	broad.mit.edu	37	3	62063842	62063842	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:62063842G>A	ENST00000474889.1	+	5	902	c.525G>A	c.(523-525)caG>caA	p.Q175Q	PTPRG_ENST00000295874.10_Silent_p.Q175Q	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	175	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TACAGATGCAGATTTTCTTTT	0.308																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(523-525)caG>caA		protein tyrosine phosphatase, receptor type, G							52.0	52.0	52.0					3																	62063842		2203	4299	6502	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62063842G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.525G>A	3.37:g.62063842G>A						PTPRG_ENST00000295874.10_Silent_p.Q175Q	p.Q175Q	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	5	902	+			175			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.525G>A	CCDS2895.1																																																																																				0.308	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		13	55	0	0	0	1	0	13	55				
SLC10A2	6555	broad.mit.edu	37	13	103710723	103710723	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:103710723C>A	ENST00000245312.3	-	2	983	c.387G>T	c.(385-387)atG>atT	p.M129I		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	129					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	AGCATGTGGTCATGCTGACGC	0.433																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(385-387)atG>atT		solute carrier family 10 (sodium/bile acid cotransporter), member 2							105.0	88.0	94.0					13																	103710723		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103710723C>A	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.387G>T	13.37:g.103710723C>A	ENSP00000245312:p.Met129Ile						p.M129I	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			2	983	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		129					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.387G>T	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103166	0.94245	.	.	ENSG00000125255	ENST00000245312	T	0.14266	2.52	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.73217	2.22	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.00852	-1.1540	10	0.37606	T	0.19	-3.3871	18.4783	0.90800	0.0:1.0:0.0:0.0	.	129	Q12908	NTCP2_HUMAN	I	129	ENSP00000245312:M129I	ENSP00000245312:M129I	M	-	3	0	SLC10A2	102508724	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.642000	0.83385	2.873000	0.98535	0.563000	0.77884	ATG		0.433	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			10	25	1	0	1.76689e-08	1	1.83149e-08	10	25				
PLEKHS1	79949	broad.mit.edu	37	10	115540397	115540397	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:115540397G>A	ENST00000354462.3	+	6	612	c.454G>A	c.(454-456)Gag>Aag	p.E152K	PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E320K|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.E236K			Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	416																	CCCAAATTCAGAGACATTCCA	0.418																																						ENST00000354462.3																			0											c.(454-456)Gag>Aag		pleckstrin homology domain containing, family S member 1							98.0	93.0	95.0					10																	115540397		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115540397G>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000354462.3:c.454G>A	10.37:g.115540397G>A	ENSP00000346451:p.Glu152Lys					PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E320K|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.E236K	p.E152K							6	612	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000354462.3	37	c.454G>A		.	.	.	.	.	.	.	.	.	.	G	13.58	2.278838	0.40294	.	.	ENSG00000148735	ENST00000369312;ENST00000369309;ENST00000354462	T;T;T	0.32023	1.47;1.47;1.47	5.49	2.55	0.30701	.	.	.	.	.	T	0.25158	0.0611	L	0.51422	1.61	0.25101	N	0.990788	B;B	0.28350	0.11;0.208	B;B	0.22152	0.011;0.038	T	0.20505	-1.0273	9	0.59425	D	0.04	.	6.0939	0.20008	0.1699:0.1538:0.6763:0.0	.	416;402	Q5SXH7;Q5SXH7-2	CJ081_HUMAN;.	K	320;236;152	ENSP00000358318:E320K;ENSP00000358315:E236K;ENSP00000346451:E152K	ENSP00000346451:E152K	E	+	1	0	C10orf81	115530387	0.995000	0.38212	0.973000	0.42090	0.502000	0.33828	1.078000	0.30754	0.345000	0.23873	0.655000	0.94253	GAG		0.418	PLEKHS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050431.2	NM_024889		17	60	0	0	0	1	0	17	60				
RP1	6101	broad.mit.edu	37	8	55540613	55540613	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:55540613C>G	ENST00000220676.1	+	4	4319	c.4171C>G	c.(4171-4173)Caa>Gaa	p.Q1391E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1391					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTGTCACATCAAAATGTCAG	0.323																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4171-4173)Caa>Gaa		retinitis pigmentosa 1 (autosomal dominant)							56.0	62.0	60.0					8																	55540613		2201	4300	6501	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540613C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4171C>G	8.37:g.55540613C>G	ENSP00000220676:p.Gln1391Glu						p.Q1391E	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4319	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1391						Missense_Mutation	SNP	ENST00000220676.1	37	c.4171C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	5.412	0.261176	0.10239	.	.	ENSG00000104237	ENST00000220676	T	0.23348	1.91	5.63	3.72	0.42706	.	0.388372	0.21929	N	0.067045	T	0.16854	0.0405	L	0.34521	1.04	0.21527	N	0.999651	B	0.15141	0.012	B	0.11329	0.006	T	0.12293	-1.0553	10	0.38643	T	0.18	-5.4306	5.509	0.16870	0.1365:0.5279:0.2643:0.0713	.	1391	P56715	RP1_HUMAN	E	1391	ENSP00000220676:Q1391E	ENSP00000220676:Q1391E	Q	+	1	0	RP1	55703166	0.090000	0.21635	0.284000	0.24805	0.929000	0.56500	0.017000	0.13399	1.365000	0.46057	0.655000	0.94253	CAA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		23	72	0	0	0	1	0	23	72				
KIAA1407	57577	broad.mit.edu	37	3	113729643	113729643	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:113729643C>T	ENST00000295878.3	-	9	1535	c.1389G>A	c.(1387-1389)gtG>gtA	p.V463V	KIAA1407_ENST00000545063.1_Silent_p.V294V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	463										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTGGTGGACCCACCATGGCTG	0.473																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1387-1389)gtG>gtA		KIAA1407							156.0	144.0	148.0					3																	113729643		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113729643C>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1389G>A	3.37:g.113729643C>T						KIAA1407_ENST00000545063.1_Silent_p.V294V	p.V463V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			9	1535	-			463					B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.1389G>A	CCDS2977.1																																																																																				0.473	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		34	164	0	0	0	1	0	34	164				
PSIP1	11168	broad.mit.edu	37	9	15468978	15468978	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:15468978C>T	ENST00000380733.4	-	13	1526	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	PSIP1_ENST00000380738.4_Missense_Mutation_p.E395K			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	395					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GTAATCATCTCTGTGTGTTTC	0.328																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(1183-1185)Gag>Aag		PC4 and SFRS1 interacting protein 1							87.0	81.0	83.0					9																	15468978		2202	4300	6502	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15468978C>T	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1183G>A	9.37:g.15468978C>T	ENSP00000370109:p.Glu395Lys					PSIP1_ENST00000380738.4_Missense_Mutation_p.E395K	p.E395K			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	13	1526	-			395					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.1183G>A	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219963	0.95139	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.52295	0.67;0.67	5.55	5.55	0.83447	.	0.046331	0.85682	D	0.000000	T	0.64461	0.2600	L	0.53249	1.67	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	T	0.65063	-0.6259	10	0.72032	D	0.01	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	395	O75475	PSIP1_HUMAN	K	395	ENSP00000370109:E395K;ENSP00000370114:E395K	ENSP00000370109:E395K	E	-	1	0	PSIP1	15458978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.232000	0.78116	2.766000	0.95052	0.650000	0.86243	GAG		0.328	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		9	35	0	0	0	1	0	9	35				
EXOSC10	5394	broad.mit.edu	37	1	11133993	11133993	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:11133993C>G	ENST00000376936.4	-	19	2204	c.2155G>C	c.(2155-2157)Gaa>Caa	p.E719Q	EXOSC10_ENST00000304457.7_Intron|EXOSC10_ENST00000544779.1_3'UTR|RP4-635E18.7_ENST00000452378.1_RNA	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	719					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCACTTACTTCATAGATTTTG	0.458																																					Colon(179;105 1987 14326 27364 29542)	ENST00000376936.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(2155-2157)Gaa>Caa		exosome component 10							69.0	65.0	67.0					1																	11133993		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11133993C>G	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2155G>C	1.37:g.11133993C>G	ENSP00000366135:p.Glu719Gln					EXOSC10_ENST00000304457.7_Intron|EXOSC10_ENST00000544779.1_3'UTR	p.E719Q	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	19	2204	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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)	719					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.2155G>C	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504095	0.85176	.	.	ENSG00000171824	ENST00000376936	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	M	0.66939	2.045	0.80722	D	1	D	0.53619	0.961	P	0.44597	0.454	T	0.63954	-0.6520	9	0.41790	T	0.15	-31.6507	18.8072	0.92041	0.0:1.0:0.0:0.0	.	719	Q01780	EXOSX_HUMAN	Q	719	.	ENSP00000366135:E719Q	E	-	1	0	EXOSC10	11056580	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.057000	0.71119	2.691000	0.91804	0.655000	0.94253	GAA		0.458	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		12	29	0	0	0	1	0	12	29				
ALMS1	7840	broad.mit.edu	37	2	73718100	73718100	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:73718100C>T	ENST00000264448.6	+	10	9122	c.9011C>T	c.(9010-9012)tCa>tTa	p.S3004L	ALMS1_ENST00000409009.1_Missense_Mutation_p.S2962L|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3004					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						AAGCCTAAATCACACATTTCT	0.408																																						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.(9010-9012)tCa>tTa		Alstrom syndrome 1							98.0	94.0	95.0					2																	73718100		1927	4128	6055	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73718100C>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.9011C>T	2.37:g.73718100C>T	ENSP00000264448:p.Ser3004Leu					ALMS1_ENST00000409009.1_Missense_Mutation_p.S2962L	p.S3004L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			10	9122	+			3004					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9011C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	8.132	0.783292	0.16189	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08008	3.14;3.14	4.78	2.96	0.34315	.	0.397857	0.19128	N	0.122000	T	0.06554	0.0168	L	0.36672	1.1	0.22762	N	0.998766	B;B;B	0.28552	0.215;0.215;0.087	B;B;B	0.25140	0.058;0.058;0.058	T	0.29792	-1.0000	10	0.44086	T	0.13	.	6.36	0.21422	0.0:0.777:0.0:0.223	.	3004;2962;3004	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	2962;3004	ENSP00000386627:S2962L;ENSP00000264448:S3004L	ENSP00000264448:S3004L	S	+	2	0	ALMS1	73571608	0.042000	0.20092	0.068000	0.19968	0.536000	0.34869	0.780000	0.26760	0.908000	0.36671	0.650000	0.86243	TCA		0.408	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		38	103	0	0	0	1	0	38	103				
STAT4	6775	broad.mit.edu	37	2	191898712	191898712	+	Missense_Mutation	SNP	G	G	A	rs144091208		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:191898712G>A	ENST00000392320.2	-	19	1954	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	STAT4_ENST00000470708.1_5'Flank|STAT4_ENST00000358470.4_Missense_Mutation_p.S547L|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	547					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S547L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAAGGTAAATGATTTACCAGG	0.294																																						ENST00000392320.2																			1	Substitution - Missense(1)	p.S547L(1)	skin(1)	breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1639-1641)tCa>tTa		signal transducer and activator of transcription 4							117.0	125.0	122.0					2																	191898712		2203	4295	6498	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191898712G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1640C>T	2.37:g.191898712G>A	ENSP00000376134:p.Ser547Leu					STAT4_ENST00000358470.4_Missense_Mutation_p.S547L	p.S547L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		19	1954	-			547					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.1640C>T	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146214	0.57044	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.77358	-1.09;-1.09	5.65	5.65	0.86999	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.322421	0.33553	N	0.004786	T	0.79125	0.4393	L	0.55990	1.75	0.80722	D	1	B;B;B	0.25169	0.119;0.119;0.119	B;B;B	0.33846	0.171;0.171;0.171	T	0.75288	-0.3370	10	0.54805	T	0.06	-2.5757	20.0845	0.97795	0.0:0.0:1.0:0.0	.	456;547;547	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	L	547	ENSP00000351255:S547L;ENSP00000376134:S547L	ENSP00000351255:S547L	S	-	2	0	STAT4	191606957	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	4.751000	0.62169	2.821000	0.97095	0.650000	0.86243	TCA		0.294	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		48	139	0	0	0	1	0	48	139				
ST6GALNAC1	55808	broad.mit.edu	37	17	74625778	74625778	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:74625778C>T	ENST00000156626.7	-	2	346	c.147G>A	c.(145-147)gaG>gaA	p.E49E	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	49					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTTTAATGTTCTCTGTGCGTT	0.448																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(145-147)gaG>gaA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							108.0	101.0	103.0					17																	74625778		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625778C>T	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.147G>A	17.37:g.74625778C>T						ST6GALNAC1_ENST00000590878.1_5'UTR	p.E49E	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			2	346	-			49					Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.147G>A	CCDS11748.1																																																																																				0.448	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		24	91	0	0	0	1	0	24	91				
CAPRIN2	65981	broad.mit.edu	37	12	30878975	30878975	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:30878975C>T	ENST00000395805.2	-	9	2377	c.1830G>A	c.(1828-1830)ccG>ccA	p.P610P	CAPRIN2_ENST00000251071.5_Silent_p.P610P|CAPRIN2_ENST00000308433.5_Silent_p.P277P|CAPRIN2_ENST00000417045.1_Silent_p.P610P|CAPRIN2_ENST00000538387.1_5'Flank|CAPRIN2_ENST00000298892.5_Silent_p.P610P	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTGGATCCTTCGGAAGGGTAG	0.393																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1828-1830)ccG>ccA		caprin family member 2							94.0	89.0	91.0					12																	30878975		2203	4300	6503	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30878975C>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1830G>A	12.37:g.30878975C>T						CAPRIN2_ENST00000395805.2_Silent_p.P610P|CAPRIN2_ENST00000417045.1_Silent_p.P610P|CAPRIN2_ENST00000308433.5_Silent_p.P277P|CAPRIN2_ENST00000298892.5_Silent_p.P610P	p.P610P	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			9	2580	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		610						Silent	SNP	ENST00000395805.2	37	c.1830G>A	CCDS55816.1																																																																																				0.393	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		17	77	0	0	0	1	0	17	77				
TMEM246	84302	broad.mit.edu	37	9	104238789	104238789	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:104238789C>G	ENST00000374851.1	-	4	1733	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	TMEM246_ENST00000374847.1_Missense_Mutation_p.E196Q|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.E196Q|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	196						integral component of membrane (GO:0016021)											AGGGATGACTCCAGGCAATAG	0.517																																						ENST00000374851.1																			0											c.(586-588)Gag>Cag		transmembrane protein 246							100.0	79.0	86.0					9																	104238789		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238789C>G	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.586G>C	9.37:g.104238789C>G	ENSP00000363984:p.Glu196Gln					TMEM246_ENST00000374848.3_Missense_Mutation_p.E196Q|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.E196Q|RP11-490D19.6_ENST00000431507.1_RNA	p.E196Q			Q9BRR3	CI125_HUMAN			4	1733	-			196					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.586G>C	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.956347	0.53293	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.95	5.95	0.96441	.	0.116668	0.64402	D	0.000013	T	0.49864	0.1582	L	0.46157	1.445	0.36503	D	0.869122	P	0.45827	0.867	P	0.44447	0.45	T	0.54207	-0.8328	9	0.27785	T	0.31	-17.2485	14.2271	0.65868	0.149:0.851:0.0:0.0	.	196	Q9BRR3	CI125_HUMAN	Q	196	.	ENSP00000363980:E196Q	E	-	1	0	C9orf125	103278610	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.859000	0.55987	2.809000	0.96659	0.650000	0.86243	GAG		0.517	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		12	43	0	0	0	1	0	12	43				
TAS2R10	50839	broad.mit.edu	37	12	10978173	10978173	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:10978173G>A	ENST00000240619.2	-	1	784	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	232					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGAGGATGATGAAAGATATCA	0.393																																						ENST00000240619.2																			0				breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(694-696)ttC>ttT		taste receptor, type 2, member 10							109.0	106.0	107.0					12																	10978173		2203	4300	6503	SO:0001819	synonymous_variant	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978173G>A	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.696C>T	12.37:g.10978173G>A							p.F232F	NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN			1	784	-			232					Q3MIM9|Q6NTD9	Silent	SNP	ENST00000240619.2	37	c.696C>T	CCDS8634.1																																																																																				0.393	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			32	117	0	0	0	1	0	32	117				
MACROD2	140733	broad.mit.edu	37	20	15967446	15967446	+	Splice_Site	SNP	G	G	T	rs201336835	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:15967446G>T	ENST00000310348.4	+	14	1060	c.1060G>T	c.(1060-1062)Gaa>Taa	p.E354*	MACROD2_ENST00000378058.3_Splice_Site_p.E119*|MACROD2_ENST00000217246.4_Splice_Site_p.E354*|MACROD2_ENST00000407045.3_Splice_Site_p.E5*|MACROD2_ENST00000402914.1_Splice_Site_p.E119*			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	354	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGAAACAGAAGGTACTGAAAC	0.338																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.e14+1		MACRO domain containing 2							60.0	59.0	59.0					20																	15967446		2203	4300	6503	SO:0001630	splice_region_variant	140733							g.chr20:15967446G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1060+1G>T	20.37:g.15967446G>T						MACROD2_ENST00000378058.3_Splice_Site_p.E119_splice|MACROD2_ENST00000407045.3_Splice_Site_p.E5_splice|MACROD2_ENST00000310348.4_Splice_Site_p.E354_splice|MACROD2_ENST00000402914.1_Splice_Site_p.E119_splice	p.E354_splice	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			14	1455	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	354			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Splice_Site	SNP	ENST00000310348.4	37	c.1060_splice	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	37	6.189449	0.97362	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	.	.	.	5.92	5.92	0.95590	.	0.119412	0.38272	N	0.001748	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.7072	18.0869	0.89461	0.0:0.0:1.0:0.0	.	.	.	.	X	354;354;119;119;5	.	ENSP00000217246:E354X	E	+	1	0	MACROD2	15915446	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.681000	0.68175	2.814000	0.96858	0.585000	0.79938	GAA		0.338	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	Nonsense_Mutation	12	37	1	0	6.40141e-05	1	6.49751e-05	12	37				
MUC16	94025	broad.mit.edu	37	19	9086117	9086117	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:9086117C>T	ENST00000397910.4	-	1	5901	c.5698G>A	c.(5698-5700)Gag>Aag	p.E1900K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1900	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACTCTTCTCTGTGTAAGTC	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5698-5700)Gag>Aag		mucin 16, cell surface associated							96.0	89.0	91.0					19																	9086117		1943	4157	6100	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086117C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5698G>A	19.37:g.9086117C>T	ENSP00000381008:p.Glu1900Lys						p.E1900K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5901	-			1900			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5698G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.307	-0.141598	0.06669	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	0.225	0.225	0.15325	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	.	.	.	P	0.49696	0.927	P	0.56563	0.801	T	0.45862	-0.9232	7	0.87932	D	0	.	.	.	.	.	1900	B5ME49	.	K	1900	ENSP00000381008:E1900K	ENSP00000381008:E1900K	E	-	1	0	MUC16	8947117	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-0.637000	0.05459	0.300000	0.22699	0.305000	0.20034	GAG		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	46	0	0	0	1	0	17	46				
ESF1	51575	broad.mit.edu	37	20	13740396	13740396	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:13740396C>G	ENST00000202816.1	-	9	1878	c.1771G>C	c.(1771-1773)Gaa>Caa	p.E591Q		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	591	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTTCTTTTTCTTGAATAACC	0.328																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(1771-1773)Gaa>Caa		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							84.0	76.0	78.0					20																	13740396		2203	4298	6501	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13740396C>G		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1771G>C	20.37:g.13740396C>G	ENSP00000202816:p.Glu591Gln						p.E591Q	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			9	1878	-			591			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.1771G>C	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491110	0.64074	.	.	ENSG00000089048	ENST00000202816	T	0.51071	0.72	5.52	4.58	0.56647	.	0.409574	0.31071	N	0.008315	T	0.42177	0.1191	L	0.43152	1.355	0.41730	D	0.989556	P	0.43633	0.813	B	0.42798	0.398	T	0.34875	-0.9811	10	0.42905	T	0.14	.	10.9667	0.47416	0.0:0.856:0.0:0.144	.	591	Q9H501	ESF1_HUMAN	Q	591	ENSP00000202816:E591Q	ENSP00000202816:E591Q	E	-	1	0	ESF1	13688396	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.177000	0.58276	1.470000	0.48102	-0.150000	0.13652	GAA		0.328	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		18	61	0	0	0	1	0	18	61				
SLCO4A1	28231	broad.mit.edu	37	20	61299845	61299845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:61299845C>T	ENST00000370507.1	+	9	1924	c.1828C>T	c.(1828-1830)Cag>Tag	p.Q610*	RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000217159.1_Nonsense_Mutation_p.Q610*			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	610					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCGTGACCCTCAGAGATCCTT	0.542											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(1828-1830)Cag>Tag		solute carrier organic anion transporter family, member 4A1							199.0	175.0	183.0					20																	61299845		2203	4300	6503	SO:0001587	stop_gained	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61299845C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1828C>T	20.37:g.61299845C>T	ENSP00000359538:p.Gln610*		OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	SLCO4A1_ENST00000370507.1_Nonsense_Mutation_p.Q610*|SLCO4A1_ENST00000470412.1_3'UTR	p.Q610*	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		10	2033	+	Breast(26;3.65e-08)		610					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Nonsense_Mutation	SNP	ENST00000370507.1	37	c.1828C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	41	8.886084	0.98990	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674;ENST00000451793	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	18.708	0.91645	0.0:1.0:0.0:0.0	.	.	.	.	X	610;610;610;462;39	.	ENSP00000217159:Q610X	Q	+	1	0	SLCO4A1	60770290	1.000000	0.71417	0.844000	0.33320	0.727000	0.41649	7.243000	0.78219	2.413000	0.81919	0.491000	0.48974	CAG		0.542	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		37	96	0	0	0	1	0	37	96				
AP1AR	55435	broad.mit.edu	37	4	113189560	113189560	+	Nonsense_Mutation	SNP	C	C	T	rs552933023		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:113189560C>T	ENST00000274000.5	+	10	1259	c.904C>T	c.(904-906)Cga>Tga	p.R302*	AP1AR_ENST00000309703.6_Nonsense_Mutation_p.R269*	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated regulatory protein	302					cellular protein localization (GO:0034613)|negative regulation of cell motility (GO:2000146)|negative regulation of receptor recycling (GO:0001920)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|transport vesicle (GO:0030133)	AP-1 adaptor complex binding (GO:0035650)|kinesin binding (GO:0019894)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						TCAACAGACTCGATAGGGTAA	0.358																																						ENST00000274000.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						c.(904-906)Cga>Tga		adaptor-related protein complex 1 associated regulatory protein							69.0	65.0	67.0					4																	113189560		2203	4300	6503	SO:0001587	stop_gained	55435				protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle		g.chr4:113189560C>T	AL136628	CCDS3696.1, CCDS47125.1	4q25	2009-09-28	2009-09-25	2009-09-25	ENSG00000138660	ENSG00000138660			28808	protein-coding gene	gene with protein product	"""gamma1-adaptin brefeldin A resistance"""	610851	"""chromosome 4 open reading frame 16"""	C4orf16		15775984	Standard	NM_018569		Approved	PRO0971, 2C18, gamma-BAR	uc003iaj.4	Q63HQ0	OTTHUMG00000132849	ENST00000274000.5:c.904C>T	4.37:g.113189560C>T	ENSP00000274000:p.Arg302*					AP1AR_ENST00000309703.6_Nonsense_Mutation_p.R269*	p.R302*	NM_018569.4	NP_061039.3	Q63HQ0	AP1AR_HUMAN			10	1259	+			302					B2RCV7|Q96GG6|Q9H0V0|Q9P1L4	Nonsense_Mutation	SNP	ENST00000274000.5	37	c.904C>T	CCDS3696.1	.	.	.	.	.	.	.	.	.	.	C	36	5.855089	0.97030	.	.	ENSG00000138660	ENST00000274000;ENST00000309703	.	.	.	5.47	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.27013	N	0.964632	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4973	6.0267	0.19658	0.3183:0.582:0.0:0.0998	.	.	.	.	X	302;269	.	ENSP00000274000:R302X	R	+	1	2	AP1AR	113409009	1.000000	0.71417	0.770000	0.31555	0.988000	0.76386	4.946000	0.63576	1.301000	0.44836	0.650000	0.86243	CGA		0.358	AP1AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256323.2	NM_018569		17	67	0	0	0	1	0	17	67				
CEP192	55125	broad.mit.edu	37	18	13068894	13068894	+	Silent	SNP	C	C	T	rs527904087		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:13068894C>T	ENST00000325971.8	+	23	4671	c.3078C>T	c.(3076-3078)atC>atT	p.I1026I	CEP192_ENST00000430049.2_Silent_p.I1147I|CEP192_ENST00000506447.1_Silent_p.I1622I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1026					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGTTGATATCGAAGTTGACA	0.433																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4864-4866)atC>atT		centrosomal protein 192kDa							106.0	106.0	106.0					18																	13068894		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13068894C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3078C>T	18.37:g.13068894C>T						CEP192_ENST00000430049.2_Silent_p.I1147I|CEP192_ENST00000325971.8_Silent_p.I1026I	p.I1622I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			25	4946	+			1217					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.4866C>T																																																																																					0.433	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		38	115	0	0	0	1	0	38	115				
TNFSF4	7292	broad.mit.edu	37	1	173155697	173155697	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:173155697C>G	ENST00000281834.3	-	3	646	c.510G>C	c.(508-510)ctG>ctC	p.L170L	TNFSF4_ENST00000488053.1_5'Flank|TNFSF4_ENST00000367718.1_Silent_p.L120L	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	170					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GGATAAGAATCAGTTCTCCGC	0.473																																						ENST00000281834.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						c.(508-510)ctG>ctC		tumor necrosis factor (ligand) superfamily, member 4							76.0	70.0	72.0					1																	173155697		2203	4300	6503	SO:0001819	synonymous_variant	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155697C>G	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.510G>C	1.37:g.173155697C>G						TNFSF4_ENST00000367718.1_Silent_p.L120L	p.L170L	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN			3	646	-			170					Q5JZA5|Q8IV74|Q9HCN9	Silent	SNP	ENST00000281834.3	37	c.510G>C	CCDS1306.1																																																																																				0.473	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			13	68	0	0	0	1	0	13	68				
TLR1	7096	broad.mit.edu	37	4	38800263	38800263	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:38800263C>T	ENST00000502213.2	-	3	419	c.190G>A	c.(190-192)Gac>Aac	p.D64N	TLR1_ENST00000308979.2_Missense_Mutation_p.D64N			Q15399	TLR1_HUMAN	toll-like receptor 1	64					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GATAAGATGTCAGAAGTCCAA	0.328																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(190-192)Gac>Aac		toll-like receptor 1							102.0	114.0	110.0					4																	38800263		2201	4300	6501	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800263C>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.190G>A	4.37:g.38800263C>T	ENSP00000421259:p.Asp64Asn					TLR1_ENST00000502213.2_Missense_Mutation_p.D64N	p.D64N	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	463	-			64					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.190G>A	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483112	0.44147	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940;ENST00000515861	T;T;T;D	0.83673	4.37;4.37;4.3;-1.75	4.93	4.09	0.47781	.	0.415829	0.23237	N	0.050386	D	0.87192	0.6116	L	0.45051	1.395	0.23893	N	0.996544	D	0.89917	1.0	D	0.87578	0.998	T	0.79916	-0.1601	10	0.87932	D	0	.	13.2808	0.60212	0.0:0.9226:0.0:0.0774	.	64	Q15399	TLR1_HUMAN	N	64	ENSP00000354932:D64N;ENSP00000421259:D64N;ENSP00000421856:D64N;ENSP00000423017:D64N	ENSP00000354932:D64N	D	-	1	0	TLR1	38476658	0.011000	0.17503	0.883000	0.34634	0.151000	0.21798	1.217000	0.32455	1.426000	0.47256	0.655000	0.94253	GAC		0.328	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			42	207	0	0	0	1	0	42	207				
PLK3	1263	broad.mit.edu	37	1	45266614	45266614	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:45266614G>C	ENST00000372201.4	+	2	552	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCATCAGCGCGAGAAGGTGGG	0.662																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(313-315)Gag>Cag		polo-like kinase 3							27.0	31.0	30.0					1																	45266614		2201	4298	6499	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45266614G>C	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.313G>C	1.37:g.45266614G>C	ENSP00000361275:p.Glu105Gln					PLK3_ENST00000465443.1_3'UTR	p.E105Q	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			2	552	+	Acute lymphoblastic leukemia(166;0.155)		105			Protein kinase.		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.313G>C	CCDS515.1	.	.	.	.	.	.	.	.	.	.	g	32	5.179070	0.94846	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.65178	-0.14	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.58148	0.2102	L	0.41573	1.285	0.80722	D	1	B	0.30104	0.268	B	0.35039	0.194	T	0.60717	-0.7208	9	0.51188	T	0.08	-19.9034	16.6171	0.84919	0.0:0.0:1.0:0.0	.	105	Q9H4B4	PLK3_HUMAN	Q	105;80	ENSP00000361275:E105Q	ENSP00000361275:E105Q	E	+	1	0	PLK3	45039201	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.472000	0.97709	2.166000	0.68216	0.550000	0.68814	GAG		0.662	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		7	31	0	0	0	1	0	7	31				
MIOX	55586	broad.mit.edu	37	22	50928244	50928244	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:50928244G>A	ENST00000216075.6	+	10	891	c.817G>A	c.(817-819)Ggg>Agg	p.G273R	MIOX_ENST00000395733.3_Missense_Mutation_p.G229E|MIOX_ENST00000395732.3_Missense_Mutation_p.G268E	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	273					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTACTACCAGGGGCTCATTGA	0.657																																						ENST00000395732.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13						c.(802-804)gGg>gAg		myo-inositol oxygenase							73.0	62.0	66.0					22																	50928244		2203	4300	6503	SO:0001583	missense	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50928244G>A	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.817G>A	22.37:g.50928244G>A	ENSP00000216075:p.Gly273Arg					MIOX_ENST00000216075.6_Missense_Mutation_p.G273R|MIOX_ENST00000395733.3_Missense_Mutation_p.G229E	p.G268E			Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	10	825	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	0					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	c.803G>A	CCDS14092.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.70|12.70	2.016336|2.016336	0.35606|0.35606	.|.	.|.	ENSG00000100253|ENSG00000100253	ENST00000395733;ENST00000395732|ENST00000216075;ENST00000451761	.|.	.|.	.|.	5.22|5.22	4.19|4.19	0.49359|0.49359	.|.	0.329707|0.329707	0.31721|0.31721	N|N	0.007167|0.007167	T|T	0.45013|0.45013	0.1321|0.1321	L|L	0.46741|0.46741	1.465|1.465	0.22675|0.22675	N|N	0.998863|0.998863	B;B|P	0.26809|0.40197	0.16;0.009|0.706	B;B|P	0.26770|0.47941	0.073;0.006|0.562	T|T	0.37407|0.37407	-0.9707|-0.9707	9|9	0.87932|0.51188	D|T	0|0.08	-2.2834|-2.2834	12.0576|12.0576	0.53544|0.53544	0.0877:0.0:0.9122:0.0|0.0877:0.0:0.9122:0.0	.|.	229;268|273	Q9UGB7-2;A6PVH2|Q9UGB7	.;.|MIOX_HUMAN	E|R	229;268|273;253	.|.	ENSP00000379081:G268E|ENSP00000216075:G273R	G|G	+|+	2|1	0|0	MIOX|MIOX	49275110|49275110	0.990000|0.990000	0.36364|0.36364	0.988000|0.988000	0.46212|0.46212	0.986000|0.986000	0.74619|0.74619	1.342000|1.342000	0.33919|0.33919	2.413000|2.413000	0.81919|0.81919	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.657	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584		17	63	0	0	0	1	0	17	63				
FLT3	2322	broad.mit.edu	37	13	28601325	28601325	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:28601325G>A	ENST00000241453.7	-	17	2188	c.2107C>T	c.(2107-2109)Cta>Tta	p.L703L	FLT3_ENST00000537084.1_Silent_p.L703L|FLT3_ENST00000380982.4_Silent_p.L703L	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	703	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTACTTCTTAGATAGTTGAGA	0.338			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2107-2109)Cta>Tta		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						113.0	115.0	114.0					13																	28601325		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28601325G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2107C>T	13.37:g.28601325G>A						FLT3_ENST00000241453.7_Silent_p.L703L|FLT3_ENST00000537084.1_Silent_p.L703L	p.L703L			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	17	2188	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	703			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.2107C>T	CCDS31953.1																																																																																				0.338	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			37	56	0	0	0	1	0	37	56				
ARHGEF7	8874	broad.mit.edu	37	13	111870185	111870185	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:111870185G>A	ENST00000375741.2	+	6	941	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.G53S|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.G53S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.G128S|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.G138S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.G53S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.G181S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.G53S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.G210S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	231	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CGGCCGGACCGGCTGGTTCCC	0.582																																						ENST00000375741.2																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(691-693)Ggc>Agc		Rho guanine nucleotide exchange factor (GEF) 7							57.0	55.0	56.0					13																	111870185		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111870185G>A	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.691G>A	13.37:g.111870185G>A	ENSP00000364893:p.Gly231Ser					ARHGEF7_ENST00000370623.3_Missense_Mutation_p.G138S|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.G53S|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.G53S|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.G128S|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.G181S|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.G53S|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.G53S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.G210S	p.G231S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		6	941	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		231			SH3.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.691G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	35	5.532094	0.96446	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000449979;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000467053;ENST00000426073;ENST00000426768;ENST00000375737;ENST00000375723	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73	4.82	4.82	0.62117	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.98551	0.9516	H	0.96080	3.765	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	0.99816	1.1044	10	0.87932	D	0	.	18.2835	0.90105	0.0:0.0:1.0:0.0	.	128;181;231;210	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	S	210;231;181;53;138;208;53;53;53;53;53;128;128;53	ENSP00000325994:G210S;ENSP00000364893:G231S;ENSP00000364891:G181S;ENSP00000406732:G53S;ENSP00000359657:G138S;ENSP00000418067:G53S;ENSP00000218789:G53S;ENSP00000364888:G53S;ENSP00000420592:G53S;ENSP00000397068:G53S;ENSP00000389890:G128S;ENSP00000364889:G128S;ENSP00000364875:G53S	ENSP00000218789:G53S	G	+	1	0	ARHGEF7	110668186	1.000000	0.71417	0.960000	0.40013	0.713000	0.41058	9.326000	0.96389	2.366000	0.80165	0.655000	0.94253	GGC		0.582	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		14	39	0	0	0	1	0	14	39				
ATP2B1	490	broad.mit.edu	37	12	90010788	90010788	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:90010788C>T	ENST00000428670.3	-	12	2314	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	ATP2B1_ENST00000359142.3_Missense_Mutation_p.E620K|ATP2B1_ENST00000348959.3_Missense_Mutation_p.E620K|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E620K|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E363K			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	620					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ACTTTTGCCTCACCATTAGCA	0.358																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1858-1860)Gag>Aag		ATPase, Ca++ transporting, plasma membrane 1							138.0	124.0	129.0					12																	90010788		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90010788C>T	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1858G>A	12.37:g.90010788C>T	ENSP00000392043:p.Glu620Lys					ATP2B1_ENST00000348959.3_Missense_Mutation_p.E620K|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E620K|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E620K|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E363K	p.E620K			P20020	AT2B1_HUMAN			12	2314	-			620					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.1858G>A	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810830	0.70797	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.82	5.82	0.92795	.	0.048233	0.85682	D	0.000000	T	0.61185	0.2327	N	0.20685	0.6	0.80722	D	1	B;B;B	0.14805	0.001;0.01;0.011	B;B;B	0.19666	0.004;0.026;0.015	T	0.53592	-0.8417	10	0.37606	T	0.19	-15.5738	20.0989	0.97860	0.0:1.0:0.0:0.0	.	620;620;620	P20020-3;P20020-2;P20020-6	.;.;.	K	620;620;620;620;363	ENSP00000261173:E620K;ENSP00000343599:E620K;ENSP00000352054:E620K;ENSP00000392043:E620K;ENSP00000376869:E363K	ENSP00000261173:E620K	E	-	1	0	ATP2B1	88534919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.070000	0.71220	2.764000	0.94973	0.650000	0.86243	GAG		0.358	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		21	87	0	0	0	1	0	21	87				
RPN2	6185	broad.mit.edu	37	20	35857006	35857006	+	Silent	SNP	C	C	T	rs200454814		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35857006C>T	ENST00000237530.6	+	12	1664	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	RPN2_ENST00000373622.5_Silent_p.A419A	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	451					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGTTTGTTGCCGAGCCAGACA	0.408																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(1351-1353)gcC>gcT		ribophorin II							114.0	109.0	110.0					20																	35857006		2203	4300	6503	SO:0001819	synonymous_variant	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35857006C>T	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1353C>T	20.37:g.35857006C>T						RPN2_ENST00000373622.5_Silent_p.A419A	p.A451A	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			12	1664	+		Myeloproliferative disorder(115;0.00878)	451					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Silent	SNP	ENST00000237530.6	37	c.1353C>T	CCDS13291.1																																																																																				0.408	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		27	84	0	0	0	1	0	27	84				
ARHGEF19	128272	broad.mit.edu	37	1	16534240	16534240	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16534240C>G	ENST00000270747.3	-	4	863	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	243					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCTCATCTCTACACTTCGA	0.677																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(727-729)Gag>Cag		Rho guanine nucleotide exchange factor (GEF) 19							49.0	52.0	51.0					1																	16534240		2203	4299	6502	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534240C>G	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.727G>C	1.37:g.16534240C>G	ENSP00000270747:p.Glu243Gln					ARHGEF19_ENST00000421561.1_Missense_Mutation_p.E243Q	p.E243Q	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	4	863	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	243					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.727G>C	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168143	0.57476	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.72505	-0.66;1.73	4.82	3.91	0.45181	.	4.019060	0.00728	N	0.000935	T	0.73458	0.3589	L	0.47716	1.5	0.09310	N	1	P	0.52842	0.956	P	0.50082	0.63	T	0.56492	-0.7970	10	0.19147	T	0.46	.	10.5979	0.45349	0.1928:0.8072:0.0:0.0	.	243	Q8IW93	ARHGJ_HUMAN	Q	243	ENSP00000270747:E243Q;ENSP00000396001:E243Q	ENSP00000270747:E243Q	E	-	1	0	ARHGEF19	16406827	0.390000	0.25213	0.018000	0.16275	0.010000	0.07245	2.054000	0.41335	1.030000	0.39839	-0.226000	0.12346	GAG		0.677	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		11	55	0	0	0	1	0	11	55				
APCS	325	broad.mit.edu	37	1	159558079	159558079	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:159558079G>C	ENST00000255040.2	+	2	350	c.253G>C	c.(253-255)Gaa>Caa	p.E85Q		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	85	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					AGTTTATAAAGAAAGAGTTGG	0.433																																						ENST00000255040.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(253-255)Gaa>Caa		amyloid P component, serum							88.0	90.0	90.0					1																	159558079		2203	4300	6503	SO:0001583	missense	325				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	g.chr1:159558079G>C		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.253G>C	1.37:g.159558079G>C	ENSP00000255040:p.Glu85Gln						p.E85Q	NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN			2	350	+	all_hematologic(112;0.0429)		85			Pentaxin.			Missense_Mutation	SNP	ENST00000255040.2	37	c.253G>C	CCDS1186.1	.	.	.	.	.	.	.	.	.	.	G	9.566	1.119633	0.20877	.	.	ENSG00000132703	ENST00000255040	T	0.07688	3.17	4.25	-0.106	0.13596	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	1.350870	0.04539	N	0.387742	T	0.03305	0.0096	M	0.74546	2.27	0.09310	N	1	B	0.26744	0.158	B	0.30943	0.122	T	0.44982	-0.9292	10	0.17369	T	0.5	0.0018	3.279	0.06908	0.3069:0.0:0.5124:0.1807	.	85	P02743	SAMP_HUMAN	Q	85	ENSP00000255040:E85Q	ENSP00000255040:E85Q	E	+	1	0	APCS	157824703	0.000000	0.05858	0.031000	0.17742	0.062000	0.15995	0.032000	0.13732	0.173000	0.19788	0.655000	0.94253	GAA		0.433	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2	NM_001639		28	85	0	0	0	1	0	28	85				
GRIPAP1	56850	broad.mit.edu	37	X	48846043	48846043	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:48846043C>T	ENST00000376441.1	-	11	884	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.E231K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E284K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E239K	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	284						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GCCTCAAGTTCCTGCTGCAGC	0.572																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(691-693)Gaa>Aaa		GRIP1 associated protein 1							115.0	91.0	99.0					X																	48846043		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48846043C>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.850G>A	X.37:g.48846043C>T	ENSP00000365624:p.Glu284Lys					GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E284K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E239K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E284K	p.E231K	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN			10	723	-			284					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.691G>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878560	0.91740	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.22	5.22	0.72569	.	0.061061	0.64402	D	0.000005	T	0.41511	0.1162	L	0.47716	1.5	0.39734	D	0.971648	D;P;D	0.69078	0.982;0.925;0.997	P;P;D	0.64042	0.608;0.54;0.921	T	0.21965	-1.0230	10	0.39692	T	0.17	-5.2157	15.1207	0.72441	0.0:1.0:0.0:0.0	.	231;174;284	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	K	284;239;284;284;231	ENSP00000365608:E284K;ENSP00000365627:E239K;ENSP00000365624:E284K;ENSP00000365606:E231K	ENSP00000365606:E231K	E	-	1	0	GRIPAP1	48730987	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.417000	0.66423	2.158000	0.67659	0.600000	0.82982	GAA		0.572	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		21	21	0	0	0	1	0	21	21				
MUC16	94025	broad.mit.edu	37	19	9071607	9071607	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:9071607G>A	ENST00000397910.4	-	3	16042	c.15839C>T	c.(15838-15840)tCg>tTg	p.S5280L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5282	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTACTGTGCGATGCAGACTC	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15838-15840)tCg>tTg		mucin 16, cell surface associated							174.0	169.0	170.0					19																	9071607		2062	4208	6270	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071607G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15839C>T	19.37:g.9071607G>A	ENSP00000381008:p.Ser5280Leu						p.S5280L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16042	-			5282			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15839C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.148	0.395442	0.11638	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.76	1.76	0.24704	.	.	.	.	.	T	0.02610	0.0079	L	0.27053	0.805	.	.	.	D	0.58970	0.984	B	0.42916	0.402	T	0.40813	-0.9543	8	0.87932	D	0	.	7.0509	0.25073	0.0:0.0:1.0:0.0	.	5280	B5ME49	.	L	5280	ENSP00000381008:S5280L	ENSP00000381008:S5280L	S	-	2	0	MUC16	8932607	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.334000	0.33827	1.301000	0.44836	0.449000	0.29647	TCG		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		44	48	0	0	0	1	0	44	48				
SUV39H2	79723	broad.mit.edu	37	10	14923523	14923523	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:14923523C>T	ENST00000354919.6	+	2	56	c.56C>T	c.(55-57)tCa>tTa	p.S19L	RP11-398C13.6_ENST00000609399.1_lincRNA|SUV39H2_ENST00000378325.3_Missense_Mutation_p.S19L|SUV39H2_ENST00000313519.5_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	19					cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGCCTAGTTTCACTTGATACT	0.313																																						ENST00000378325.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(55-57)tCa>tTa		suppressor of variegation 3-9 homolog 2 (Drosophila)							54.0	54.0	54.0					10																	14923523		876	1991	2867	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14923523C>T	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.56C>T	10.37:g.14923523C>T	ENSP00000346997:p.Ser19Leu					SUV39H2_ENST00000313519.5_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.S19L	p.S19L	NM_001193426.1|NM_001193427.1	NP_001180355.1|NP_001180356.1	Q9H5I1	SUV92_HUMAN			2	82	+			19					D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.56C>T	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.820037|2.820037	0.50633|0.50633	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000358298|ENST00000378325;ENST00000354919	.|D;D	.|0.98313	.|-4.86;-3.52	5.92|5.92	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.52532	.|D	.|0.000073	D|D	0.95834|0.95834	0.8644|0.8644	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.09377	.|0.004	D|D	0.93431|0.93431	0.6785|0.6785	5|10	.|0.46703	.|T	.|0.11	.|.	12.4907|12.4907	0.55899|0.55899	0.0:0.9235:0.0:0.0765|0.0:0.9235:0.0:0.0765	.|.	.|19	.|Q9H5I1-3	.|.	Y|L	9|19	.|ENSP00000367576:S19L;ENSP00000346997:S19L	.|ENSP00000346997:S19L	H|S	+|+	1|2	0|0	SUV39H2|SUV39H2	14963529|14963529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	5.161000|5.161000	0.64935|0.64935	1.522000|1.522000	0.49001|0.49001	-0.237000|-0.237000	0.12165|0.12165	CAC|TCA		0.313	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		17	51	0	0	0	1	0	17	51				
UNC13D	201294	broad.mit.edu	37	17	73831952	73831952	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:73831952C>T	ENST00000207549.4	-	18	1959	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q	UNC13D_ENST00000412096.2_Missense_Mutation_p.R527Q	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	527	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCAGCTCCCGGAAAGCCAT	0.622									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1579-1581)cGg>cAg		unc-13 homolog D (C. elegans)							137.0	149.0	145.0					17																	73831952		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831952C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1580G>A	17.37:g.73831952C>T	ENSP00000207549:p.Arg527Gln					UNC13D_ENST00000412096.2_Missense_Mutation_p.R527Q	p.R527Q	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	1959	-			527			Interaction with RAB27A.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1580G>A	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	8.211	0.800359	0.16397	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.69685	-0.41;-0.42	4.28	1.94	0.25998	.	0.451749	0.20123	N	0.098774	T	0.40247	0.1109	N	0.12182	0.205	0.23515	N	0.99751	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.18272	-1.0342	10	0.12430	T	0.62	-1.5777	6.4224	0.21750	0.525:0.3291:0.0:0.1458	.	527;527	Q70J99-3;Q70J99	.;UN13D_HUMAN	Q	527	ENSP00000207549:R527Q;ENSP00000388093:R527Q	ENSP00000207549:R527Q	R	-	2	0	UNC13D	71343547	0.211000	0.23529	0.999000	0.59377	0.468000	0.32798	-0.439000	0.06897	0.180000	0.19960	-0.397000	0.06425	CGG		0.622	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		29	124	0	0	0	1	0	29	124				
COQ9	57017	broad.mit.edu	37	16	57485028	57485028	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:57485028G>C	ENST00000262507.6	+	2	219	c.150G>C	c.(148-150)caG>caC	p.Q50H	COQ9_ENST00000567072.1_Missense_Mutation_p.Q50H|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_Missense_Mutation_p.Q50H	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	50					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CAGATGAGCAGAAGCAGCAGC	0.557																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(148-150)caG>caC		coenzyme Q9							73.0	67.0	69.0					16																	57485028		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57485028G>C	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.150G>C	16.37:g.57485028G>C	ENSP00000262507:p.Gln50His					COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_Missense_Mutation_p.Q50H|COQ9_ENST00000567072.1_Missense_Mutation_p.Q50H	p.Q50H	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			2	219	+			50					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.150G>C	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168948	0.38315	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.36	1.74	0.24563	.	0.442134	0.26183	N	0.025859	T	0.35508	0.0934	L	0.44542	1.39	0.28693	N	0.904499	B;B;B;B;B	0.17038	0.003;0.005;0.01;0.0;0.02	B;B;B;B;B	0.19946	0.006;0.007;0.009;0.002;0.027	T	0.24190	-1.0167	9	0.39692	T	0.17	-6.6876	7.338	0.26621	0.1694:0.2618:0.5688:0.0	.	50;50;50;50;50	B4E0U3;B4DIV2;B4DEE3;O75208;O75208-2	.;.;.;COQ9_HUMAN;.	H	50	.	ENSP00000262507:Q50H	Q	+	3	2	COQ9	56042529	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	0.818000	0.27295	0.606000	0.29965	0.655000	0.94253	CAG		0.557	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		16	35	0	0	0	1	0	16	35				
LRRC8C	84230	broad.mit.edu	37	1	90178613	90178613	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90178613C>T	ENST00000370454.4	+	3	739	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	162					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CATCTCCATTCTGGGGAAGTG	0.448																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(484-486)Ctg>Ttg		leucine rich repeat containing 8 family, member C							90.0	93.0	92.0					1																	90178613		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178613C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.484C>T	1.37:g.90178613C>T						LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.L162L	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	739	+		all_lung(203;0.126)	162					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.484C>T	CCDS725.1																																																																																				0.448	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		25	102	0	0	0	1	0	25	102				
TRMT10A	93587	broad.mit.edu	37	4	100479319	100479319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:100479319G>A	ENST00000273962.3	-	3	547	c.235C>T	c.(235-237)Caa>Taa	p.Q79*	TRMT10A_ENST00000394876.2_Nonsense_Mutation_p.Q79*|TRMT10A_ENST00000394877.3_Nonsense_Mutation_p.Q79*	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	79					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										GGTTCCATTTGACATTGTCGC	0.328																																						ENST00000273962.3																			0											c.(235-237)Caa>Taa		tRNA methyltransferase 10 homolog A (S. cerevisiae)							251.0	203.0	219.0					4																	100479319		2203	4300	6503	SO:0001587	stop_gained	93587							g.chr4:100479319G>A	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.235C>T	4.37:g.100479319G>A	ENSP00000273962:p.Gln79*					TRMT10A_ENST00000394876.2_Nonsense_Mutation_p.Q79*|TRMT10A_ENST00000394877.3_Nonsense_Mutation_p.Q79*	p.Q79*	NM_152292.4	NP_689505.1					3	547	-								B2R8X7|Q9Y2T9	Nonsense_Mutation	SNP	ENST00000273962.3	37	c.235C>T	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298802	0.95574	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	.	.	.	5.78	5.78	0.91487	.	0.355254	0.34460	N	0.003949	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-21.7895	16.0152	0.80434	0.0:0.0:0.8577:0.1423	.	.	.	.	X	79	.	ENSP00000273962:Q79X	Q	-	1	0	RG9MTD2	100698342	1.000000	0.71417	0.988000	0.46212	0.730000	0.41778	5.395000	0.66291	2.894000	0.99253	0.591000	0.81541	CAA		0.328	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292		28	111	0	0	0	1	0	28	111				
FGL2	10875	broad.mit.edu	37	7	76825626	76825626	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:76825626C>T	ENST00000248598.5	-	2	1322	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	430	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GTCTGATCATCATCTTAGCCT	0.443																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(1288-1290)atG>atA		fibrinogen-like 2							57.0	53.0	54.0					7																	76825626		2203	4300	6503	SO:0001583	missense	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76825626C>T	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.1290G>A	7.37:g.76825626C>T	ENSP00000248598:p.Met430Ile					CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	p.M430I	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			2	1322	-			430			Fibrinogen C-terminal.			Missense_Mutation	SNP	ENST00000248598.5	37	c.1290G>A	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077538	0.76528	.	.	ENSG00000127951	ENST00000248598	D	0.85702	-2.02	5.87	5.87	0.94306	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.032579	0.85682	D	0.000000	D	0.86936	0.6053	M	0.64260	1.97	0.80722	D	1	P	0.45283	0.855	P	0.46850	0.529	D	0.87040	0.2140	10	0.54805	T	0.06	.	16.7134	0.85391	0.0:0.8707:0.1293:0.0	.	430	Q14314	FGL2_HUMAN	I	430	ENSP00000248598:M430I	ENSP00000248598:M430I	M	-	3	0	FGL2	76663562	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.856000	0.55964	2.941000	0.99782	0.655000	0.94253	ATG		0.443	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		6	24	0	0	0	1	0	6	24				
KIAA0355	9710	broad.mit.edu	37	19	34791776	34791776	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:34791776C>T	ENST00000299505.6	+	2	1271	c.398C>T	c.(397-399)tCg>tTg	p.S133L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	133										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGGCTGACCTCGGCCATAAAG	0.502																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(397-399)tCg>tTg		KIAA0355							52.0	43.0	46.0					19																	34791776		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34791776C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.398C>T	19.37:g.34791776C>T	ENSP00000299505:p.Ser133Leu						p.S133L	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			2	1271	+	Esophageal squamous(110;0.162)		133					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.398C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531894	0.64972	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.200351	0.42420	D	0.000715	T	0.42108	0.1188	N	0.14661	0.345	0.54753	D	0.999984	B	0.34181	0.44	B	0.25759	0.063	T	0.49504	-0.8933	9	0.87932	D	0	-21.7317	19.2076	0.93739	0.0:1.0:0.0:0.0	.	133	O15063	K0355_HUMAN	L	133	.	ENSP00000299505:S133L	S	+	2	0	KIAA0355	39483616	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.445000	0.80570	2.607000	0.88179	0.561000	0.74099	TCG		0.502	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		15	45	0	0	0	1	0	15	45				
LMO3	55885	broad.mit.edu	37	12	16757906	16757906	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:16757906G>C	ENST00000320122.6	-	0	407				LMO3_ENST00000541295.1_Intron|LMO3_ENST00000537304.1_Intron|LMO3_ENST00000447609.1_Intron|LMO3_ENST00000261169.6_De_novo_Start_OutOfFrame|LMO3_ENST00000534946.1_Intron|LMO3_ENST00000441439.2_Intron|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000540848.1_Intron|LMO3_ENST00000541846.1_Intron|LMO3_ENST00000354662.1_Intron|LMO3_ENST00000535535.1_Intron	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				GGGTCTCCTTGATTTCGCTTA	0.557																																						ENST00000320122.6																			0				endometrium(2)|large_intestine(2)|skin(1)	5								LIM domain only 3 (rhombotin-like 2)																																						55885				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding	g.chr12:16757906G>C	BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.-116C>G	12.37:g.16757906G>C						LMO3_ENST00000535535.1_Intron|LMO3_ENST00000534946.1_Intron|LMO3_ENST00000261169.6_De_novo_Start_OutOfFrame|LMO3_ENST00000537568.1_Intron|LMO3_ENST00000354662.1_Intron|LMO3_ENST00000537304.1_Intron|LMO3_ENST00000541846.1_Intron|LMO3_ENST00000447609.1_Intron|LMO3_ENST00000541295.1_Intron|LMO3_ENST00000540848.1_Intron|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000441439.2_Intron		NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN			0	407	-		Hepatocellular(102;0.244)						B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Translation_Start_Site	SNP	ENST00000320122.6	37		CCDS8678.1																																																																																				0.557	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401279.1	NM_018640		19	38	0	0	0	1	0	19	38				
MAML3	55534	broad.mit.edu	37	4	140810661	140810661	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:140810661C>T	ENST00000509479.2	-	2	2785	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	MAML3_ENST00000327122.5_Silent_p.Q487Q|MAML3_ENST00000398940.1_Silent_p.Q171Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgttgctgtt	0.587																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1927-1929)caG>caA		mastermind-like 3 (Drosophila)							46.0	58.0	54.0					4																	140810661		2196	4300	6496	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810661C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1929G>A	4.37:g.140810661C>T						MAML3_ENST00000398940.1_Silent_p.Q171Q|MAML3_ENST00000327122.5_Silent_p.Q487Q	p.Q643Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2785	-	all_hematologic(180;0.162)		639			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1929G>A	CCDS54805.1																																																																																				0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	94	0	0	0	1	0	5	94				
PEG3	5178	broad.mit.edu	37	19	57325390	57325390	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:57325390C>T	ENST00000326441.9	-	10	4783	c.4420G>A	c.(4420-4422)Gag>Aag	p.E1474K	PEG3_ENST00000598410.1_Missense_Mutation_p.E1350K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1474K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1348K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1474	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCCTCTGGCTCTTCAGCTTTT	0.517																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(4420-4422)Gag>Aag		paternally expressed 3							132.0	119.0	124.0					19																	57325390		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325390C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4420G>A	19.37:g.57325390C>T	ENSP00000326581:p.Glu1474Lys					ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1348K|PEG3_ENST00000423103.2_Missense_Mutation_p.E1474K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1350K	p.E1474K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	4783	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1474			Glu-rich.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4420G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528425	0.85706	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02837	4.14;4.14	2.84	2.84	0.33178	.	.	.	.	.	T	0.04952	0.0133	N	0.19112	0.55	.	.	.	D;D;D	0.67145	0.994;0.99;0.996	P;P;P	0.58266	0.739;0.76;0.836	T	0.37407	-0.9707	8	0.56958	D	0.05	-14.3256	9.53	0.39187	0.0:1.0:0.0:0.0	.	1350;1474;1409	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	1474	ENSP00000326581:E1474K;ENSP00000403051:E1474K	ENSP00000326581:E1474K	E	-	1	0	ZIM2	62017202	0.064000	0.20934	0.974000	0.42286	0.886000	0.51366	0.925000	0.28791	1.942000	0.56320	0.573000	0.79308	GAG		0.517	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			34	108	0	0	0	1	0	34	108				
EIF4G2	1982	broad.mit.edu	37	11	10825928	10825928	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:10825928G>A	ENST00000526148.1	-	6	899	c.389C>T	c.(388-390)tCa>tTa	p.S130L	SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S130L|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S130L|EIF4G2_ENST00000396525.2_Missense_Mutation_p.S130L|EIF4G2_ENST00000525995.1_5'Flank	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)		AGCATACAGTGAGCTATACTT	0.443																																						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.(388-390)tCa>tTa		eukaryotic translation initiation factor 4 gamma, 2							113.0	105.0	108.0					11																	10825928		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.chr11:10825928G>A	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.389C>T	11.37:g.10825928G>A	ENSP00000433664:p.Ser130Leu					EIF4G2_ENST00000396525.2_Missense_Mutation_p.S130L|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S130L|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S130L	p.S130L	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)	6	899	-			130			MIF4G.			Missense_Mutation	SNP	ENST00000526148.1	37	c.389C>T	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021803	0.75275	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082;ENST00000524932;ENST00000527419	T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.67	5.67	0.87782	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.124867	0.56097	D	0.000025	T	0.41419	0.1158	M	0.89840	3.065	0.49915	D	0.999834	B;B	0.29253	0.239;0.239	B;B	0.24701	0.055;0.055	T	0.47649	-0.9101	9	0.39692	T	0.17	-6.4202	20.1358	0.98028	0.0:0.0:1.0:0.0	.	130;203	P78344;B4DZF2	IF4G2_HUMAN;.	L	130;130;130;130;203;130;130;130;61	ENSP00000433664:S130L;ENSP00000433371:S130L;ENSP00000340281:S130L;ENSP00000379778:S130L;ENSP00000431583:S130L;ENSP00000433121:S130L;ENSP00000435523:S130L;ENSP00000434940:S61L	ENSP00000340281:S130L	S	-	2	0	EIF4G2	10782504	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	6.400000	0.73252	2.833000	0.97629	0.585000	0.79938	TCA		0.443	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		32	123	0	0	0	1	0	32	123				
USP29	57663	broad.mit.edu	37	19	57641576	57641576	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:57641576G>A	ENST00000254181.4	+	4	1987	c.1533G>A	c.(1531-1533)ctG>ctA	p.L511L	USP29_ENST00000598197.1_Silent_p.L511L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	511	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)		TCATTCATCTGAAACGCTATA	0.373																																						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.(1531-1533)ctG>ctA		ubiquitin specific peptidase 29							111.0	115.0	113.0					19																	57641576		2203	4300	6503	SO:0001819	synonymous_variant	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641576G>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.1533G>A	19.37:g.57641576G>A						USP29_ENST00000598197.1_Silent_p.L511L	p.L511L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1987	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	511						Silent	SNP	ENST00000254181.4	37	c.1533G>A	CCDS33124.1																																																																																				0.373	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			33	123	0	0	0	1	0	33	123				
FGFR3	2261	broad.mit.edu	37	4	1806119	1806119	+	Missense_Mutation	SNP	G	G	A	rs28931614		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:1806119G>A	ENST00000260795.2	+	8	1240	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R	FGFR3_ENST00000481110.2_Missense_Mutation_p.G380R|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Missense_Mutation_p.G382R|FGFR3_ENST00000440486.2_Missense_Mutation_p.G380R|FGFR3_ENST00000352904.1_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	380			G -> R (in keratinocytic non- epidermolytic nevus and ACH; very common mutation; constitutively activated kinase with impaired internalization and degradation, resulting in prolonged FGFR3 signaling; dbSNP:rs28931614). {ECO:0000269|PubMed:16841094, ECO:0000269|PubMed:7847369, ECO:0000269|PubMed:8078586}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.G380R(13)|p.G382R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CCTCAGCTACGGGGTGGGCTT	0.672		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		14	Substitution - Missense(14)	p.G380R(13)|p.G382R(1)	urinary_tract(13)|skin(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091	GRCh37	CM940785|CM940786|CX090489	FGFR3	M|X	rs28931614	c.(1144-1146)Ggg>Agg		fibroblast growth factor receptor 3	Palifermin(DB00039)						160.0	153.0	156.0					4																	1806119		2203	4300	6503	SO:0001583	missense	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1806119G>A	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1138G>A	4.37:g.1806119G>A	ENSP00000260795:p.Gly380Arg					FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.G380R|FGFR3_ENST00000481110.2_Missense_Mutation_p.G380R|FGFR3_ENST00000260795.2_Missense_Mutation_p.G380R	p.G382R	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		9	1400	+		Breast(71;0.212)|all_epithelial(65;0.241)	380					D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.1144G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	19.38	3.816739	0.70912	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000260795	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.68	3.82	0.43975	.	0.059512	0.64402	D	0.000003	D	0.88224	0.6379	L	0.54323	1.7	0.80722	D	1	D;P;D	0.67145	0.959;0.94;0.996	P;B;P	0.57371	0.637;0.255;0.819	D	0.88921	0.3366	10	0.62326	D	0.03	.	14.9577	0.71131	0.0:0.144:0.856:0.0	rs28931614	382;380;380	P22607-2;P22607;F8W9L4	.;FGFR3_HUMAN;.	R	380;382;380;380	ENSP00000420533:G380R;ENSP00000339824:G382R;ENSP00000414914:G380R;ENSP00000260795:G380R	ENSP00000260795:G380R	G	+	1	0	FGFR3	1775917	0.998000	0.40836	1.000000	0.80357	0.886000	0.51366	3.516000	0.53436	1.066000	0.40716	0.462000	0.41574	GGG		0.672	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		43	163	0	0	0	1	0	43	163				
C6	729	broad.mit.edu	37	5	41160462	41160462	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:41160462G>T	ENST00000263413.3	-	11	1730	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	C6_ENST00000337836.5_Missense_Mutation_p.P489H|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	489	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTCCACGATGGGGGCAAGCTA	0.502																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1465-1467)cCc>cAc		complement component 6							115.0	99.0	104.0					5																	41160462		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160462G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1466C>A	5.37:g.41160462G>T	ENSP00000263413:p.Pro489His					C6_ENST00000337836.5_Missense_Mutation_p.P489H|C6_ENST00000475349.1_5'UTR	p.P489H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1730	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	489			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1466C>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832987	0.91036	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.93811	-3.29;-3.29	6.06	6.06	0.98353	Membrane attack complex component/perforin (MACPF) domain (3);	0.048618	0.85682	D	0.000000	D	0.97626	0.9222	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97667	1.0164	10	0.87932	D	0	-16.1633	20.6208	0.99490	0.0:0.0:1.0:0.0	.	489	P13671	CO6_HUMAN	H	489	ENSP00000338861:P489H;ENSP00000263413:P489H	ENSP00000263413:P489H	P	-	2	0	C6	41196219	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.383000	0.97214	2.882000	0.98803	0.655000	0.94253	CCC		0.502	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			12	55	1	0	0.000151284	1	0.000153202	12	55				
OR52K1	390036	broad.mit.edu	37	11	4510412	4510412	+	Silent	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:4510412C>A	ENST00000307632.3	+	1	304	c.282C>A	c.(280-282)atC>atA	p.I94I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	94						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(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCAGGAGATCAACTTCTTTG	0.498																																						ENST00000307632.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32						c.(280-282)atC>atA		olfactory receptor, family 52, subfamily K, member 1							116.0	90.0	99.0					11																	4510412		2201	4298	6499	SO:0001819	synonymous_variant	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510412C>A	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.282C>A	11.37:g.4510412C>A							p.I94I	NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	304	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	94					B9EH54|Q6IFK5	Silent	SNP	ENST00000307632.3	37	c.282C>A	CCDS31352.1																																																																																				0.498	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1	NM_001005171		17	58	1	0	2.39187e-15	1	2.54843e-15	17	58				
ACLY	47	broad.mit.edu	37	17	40052893	40052893	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:40052893G>C	ENST00000352035.2	-	14	1569	c.1439C>G	c.(1438-1440)cCa>cGa	p.P480R	ACLY_ENST00000393896.2_Intron|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Missense_Mutation_p.P480R|ACLY_ENST00000353196.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	480					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)				TCTTGGACTTGGGACTGAATC	0.567																																					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.(1438-1440)cCa>cGa		ATP citrate lyase							99.0	99.0	99.0					17																	40052893		2203	4300	6503	SO:0001583	missense	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.chr17:40052893G>C	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.1439C>G	17.37:g.40052893G>C	ENSP00000253792:p.Pro480Arg					ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Intron|ACLY_ENST00000353196.1_Intron|ACLY_ENST00000590151.1_Missense_Mutation_p.P480R	p.P480R	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			14	1569	-		Breast(137;0.000143)	480					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.1439C>G	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.101936	0.37048	.	.	ENSG00000131473	ENST00000352035;ENST00000401700	T	0.79653	-1.29	5.34	5.34	0.76211	.	0.219585	0.40385	N	0.001113	T	0.79828	0.4513	N	0.08118	0	0.80722	D	1	D;B	0.71674	0.998;0.011	D;B	0.76071	0.987;0.003	T	0.80966	-0.1146	10	0.32370	T	0.25	.	17.2294	0.86980	0.0:0.0:1.0:0.0	.	534;480	E7ENH9;P53396	.;ACLY_HUMAN	R	480;534	ENSP00000253792:P480R	ENSP00000253792:P480R	P	-	2	0	ACLY	37306419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.250000	0.58772	2.522000	0.85027	0.655000	0.94253	CCA		0.567	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		20	64	0	0	0	1	0	20	64				
VWCE	220001	broad.mit.edu	37	11	61058327	61058327	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:61058327C>A	ENST00000335613.5	-	4	754	c.368G>T	c.(367-369)cGa>cTa	p.R123L		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	123						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGGCACACTCGGGCCACCTC	0.622																																						ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(367-369)cGa>cTa		von Willebrand factor C and EGF domains							80.0	65.0	70.0					11																	61058327		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61058327C>A	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.368G>T	11.37:g.61058327C>A	ENSP00000334186:p.Arg123Leu						p.R123L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			4	754	-			123					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.368G>T	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.990883	0.93106	.	.	ENSG00000167992	ENST00000335613	T	0.69806	-0.43	5.15	5.15	0.70609	.	0.000000	0.43919	D	0.000519	T	0.77287	0.4108	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.71434	-0.4594	10	0.10636	T	0.68	.	18.2495	0.89997	0.0:1.0:0.0:0.0	.	123	Q96DN2	VWCE_HUMAN	L	123	ENSP00000334186:R123L	ENSP00000301770:R123L	R	-	2	0	VWCE	60814903	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	5.414000	0.66405	2.417000	0.82017	0.556000	0.70494	CGA		0.622	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		11	31	1	0	0.38729	1	0.389061	11	31				
ATP6V0A2	23545	broad.mit.edu	37	12	124242530	124242530	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:124242530C>G	ENST00000330342.3	+	20	2770	c.2522C>G	c.(2521-2523)tCa>tGa	p.S841*	ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Nonsense_Mutation_p.S123*	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	841					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GTTCCTTTCTCATTCAGTCTA	0.348																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2521-2523)tCa>tGa		ATPase, H+ transporting, lysosomal V0 subunit a2							122.0	110.0	114.0					12																	124242530		2203	4300	6503	SO:0001587	stop_gained	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124242530C>G	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2522C>G	12.37:g.124242530C>G	ENSP00000332247:p.Ser841*					ATP6V0A2_ENST00000543687.1_3'UTR|ATP6V0A2_ENST00000544833.1_Nonsense_Mutation_p.S123*	p.S841*	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	20	2770	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		841					A8K026|Q6NUM0	Nonsense_Mutation	SNP	ENST00000330342.3	37	c.2522C>G	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	C	40	8.100042	0.98654	.	.	ENSG00000185344	ENST00000330342;ENST00000534943;ENST00000544833	.	.	.	5.71	5.71	0.89125	.	0.271361	0.41194	D	0.000940	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.2678	19.8579	0.96771	0.0:1.0:0.0:0.0	.	.	.	.	X	841;121;123	.	ENSP00000332247:S841X	S	+	2	0	ATP6V0A2	122808483	0.999000	0.42202	0.994000	0.49952	0.737000	0.42083	4.602000	0.61098	2.687000	0.91594	0.655000	0.94253	TCA		0.348	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		13	62	0	0	0	1	0	13	62				
LRRC49	54839	broad.mit.edu	37	15	71211413	71211413	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:71211413C>T	ENST00000260382.5	+	7	852	c.592C>T	c.(592-594)Cat>Tat	p.H198Y	LRRC49_ENST00000443425.2_Missense_Mutation_p.H154Y|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.H188Y|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.H203Y	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	198						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.H198Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAATATTAATCATTTGTGTGA	0.313																																						ENST00000260382.5																			1	Substitution - Missense(1)	p.H198Y(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(592-594)Cat>Tat		leucine rich repeat containing 49							86.0	91.0	89.0					15																	71211413		2198	4297	6495	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71211413C>T		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.592C>T	15.37:g.71211413C>T	ENSP00000260382:p.His198Tyr					LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.H188Y|LRRC49_ENST00000560369.1_Missense_Mutation_p.H203Y|LRRC49_ENST00000443425.2_Missense_Mutation_p.H154Y	p.H198Y	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			7	852	+			198					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.592C>T	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971558	0.74246	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.54071	0.59;0.59;0.59	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.88704	2.975	0.52099	D	0.999944	D;D;P;D;D	0.76494	0.998;0.999;0.829;0.995;0.999	D;D;P;D;D	0.78314	0.991;0.989;0.673;0.99;0.985	T	0.80701	-0.1265	10	0.66056	D	0.02	-25.6404	16.5818	0.84717	0.0:1.0:0.0:0.0	.	203;170;154;198;188	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	Y	188;198;154;170	ENSP00000439600:H188Y;ENSP00000260382:H198Y;ENSP00000414065:H154Y	ENSP00000260382:H198Y	H	+	1	0	LRRC49	68998467	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.868000	0.63021	2.781000	0.95711	0.650000	0.86243	CAT		0.313	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		34	101	0	0	0	1	0	34	101				
ZEB1	6935	broad.mit.edu	37	10	31810616	31810616	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:31810616G>A	ENST00000320985.10	+	7	2463	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.D769N|ZEB1_ENST00000361642.5_Missense_Mutation_p.D786N|ZEB1_ENST00000560721.2_Missense_Mutation_p.D765N|ZEB1_ENST00000542815.3_Missense_Mutation_p.D718N			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	785					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D785N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTGTGTTACAGACTCAGAACC	0.443																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			1	Substitution - Missense(1)	p.D785N(1)	kidney(1)	NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2305-2307)Gac>Aac		zinc finger E-box binding homeobox 1							138.0	116.0	123.0					10																	31810616		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810616G>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2353G>A	10.37:g.31810616G>A	ENSP00000319248:p.Asp785Asn					ZEB1_ENST00000560721.2_Missense_Mutation_p.D765N|ZEB1_ENST00000361642.5_Missense_Mutation_p.D786N|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.D785N|ZEB1_ENST00000542815.3_Missense_Mutation_p.D718N	p.D769N	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	2696	+		Prostate(175;0.0156)	785					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2305G>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	8.583	0.882767	0.17467	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.11385	3.08;2.78;2.82;2.78;2.83	5.3	5.3	0.74995	.	0.414459	0.22819	N	0.055243	T	0.18923	0.0454	L	0.57536	1.79	0.44668	D	0.997656	P;P;P;P;P;B;P;P	0.49961	0.93;0.763;0.799;0.651;0.799;0.235;0.799;0.651	P;B;B;B;B;B;B;B	0.52909	0.713;0.382;0.318;0.212;0.255;0.08;0.318;0.212	T	0.01982	-1.1235	10	0.15066	T	0.55	-22.6826	12.6488	0.56749	0.0758:0.0:0.9242:0.0	.	718;785;769;785;785;765;786;785	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	N	567;785;786;780;718;785;765;676;769	ENSP00000444282:D567N;ENSP00000354487:D786N;ENSP00000444891:D718N;ENSP00000319248:D785N;ENSP00000391612:D769N	ENSP00000319248:D785N	D	+	1	0	ZEB1	31850622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.410000	0.59774	2.633000	0.89246	0.650000	0.86243	GAC		0.443	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		37	100	0	0	0	1	0	37	100				
PHF21A	51317	broad.mit.edu	37	11	45958121	45958121	+	Splice_Site	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:45958121C>G	ENST00000418153.2	-	16	1805		c.e16-1		PHF21A_ENST00000527753.1_5'Flank|PHF21A_ENST00000323180.6_Splice_Site|PHF21A_ENST00000257821.4_Splice_Site			Q96BD5	PF21A_HUMAN	PHD finger protein 21A						blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TCTTCAGCATCTGAAAAGATT	0.393																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.e16-1		PHD finger protein 21A							111.0	108.0	109.0					11																	45958121		2202	4299	6501	SO:0001630	splice_region_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45958121C>G	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1606-1G>C	11.37:g.45958121C>G						PHF21A_ENST00000323180.6_Splice_Site|PHF21A_ENST00000418153.2_Splice_Site		NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			16	2232	-								D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Splice_Site	SNP	ENST00000418153.2	37		CCDS44578.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204461	0.79127	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153;ENST00000532028	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9336	0.97129	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHF21A	45914697	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.456000	0.80751	2.717000	0.92951	0.563000	0.77884	.		0.393	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	Intron	17	65	0	0	0	1	0	17	65				
PPIP5K2	23262	broad.mit.edu	37	5	102472513	102472513	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:102472513C>T	ENST00000358359.3	+	4	897	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L130F|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.L130F	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	130					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TATGCAGTATCTCATACAAGA	0.363																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(388-390)Ctc>Ttc		diphosphoinositol pentakisphosphate kinase 2							163.0	175.0	171.0					5																	102472513		2203	4299	6502	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102472513C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.388C>T	5.37:g.102472513C>T	ENSP00000351126:p.Leu130Phe					PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L130F|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L130F	p.L130F			O43314	VIP2_HUMAN			4	961	+			130					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.388C>T		.	.	.	.	.	.	.	.	.	.	C	12.54	1.967455	0.34754	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	T;T;T;T	0.15952	2.39;2.9;2.38;2.39	5.28	5.28	0.74379	.	0.311492	0.27821	N	0.017702	T	0.12475	0.0303	L	0.34521	1.04	0.38636	D	0.951494	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.10613	-1.0622	10	0.10377	T	0.69	-0.8286	12.6134	0.56563	0.0:0.9233:0.0:0.0767	.	52;130;130	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	F	130;52;130;130;130;60	ENSP00000313070:L130F;ENSP00000422525:L52F;ENSP00000351126:L130F;ENSP00000416016:L130F	ENSP00000313070:L130F	L	+	1	0	PPIP5K2	102500412	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.806000	0.47947	2.621000	0.88768	0.467000	0.42956	CTC		0.363	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		34	180	0	0	0	1	0	34	180				
CREM	1390	broad.mit.edu	37	10	35484998	35484998	+	Intron	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:35484998G>C	ENST00000395895.2	+	8	907				CREM_ENST00000468236.1_Missense_Mutation_p.R3T|CREM_ENST00000429130.3_Intron|CREM_ENST00000356917.5_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000463960.1_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000488741.1_5'UTR|CREM_ENST00000488328.1_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000395887.3_Intron|CREM_ENST00000474931.1_Missense_Mutation_p.R3T|CREM_ENST00000374721.3_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000473940.1_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000344351.5_5'UTR|CREM_ENST00000374734.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000490511.1_Missense_Mutation_p.R3T|CREM_ENST00000484283.1_Intron|CREM_ENST00000354759.3_Intron			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TGCATGAACAGAACTCAGGAG	0.443											OREG0020123	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000474931.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						c.(7-9)aGa>aCa		cAMP responsive element modulator							143.0	119.0	127.0					10																	35484998		2203	4300	6503	SO:0001627	intron_variant	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35484998G>C		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.746-5381G>C	10.37:g.35484998G>C			OREG0020123	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	855	CREM_ENST00000374728.3_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000361599.4_Intron|CREM_ENST00000356917.5_Intron|CREM_ENST00000488741.1_5'UTR|CREM_ENST00000344351.5_5'UTR|CREM_ENST00000488328.1_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000337656.4_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000473940.1_Intron|CREM_ENST00000490511.1_Missense_Mutation_p.R3T|CREM_ENST00000474362.1_Intron|CREM_ENST00000468236.1_Missense_Mutation_p.R3T|CREM_ENST00000463960.1_Intron|CREM_ENST00000463314.1_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000395887.3_Intron|CREM_ENST00000374721.3_Intron|CREM_ENST00000395895.2_Intron	p.R3T			Q03060	CREM_HUMAN			1	169	+			0					A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Missense_Mutation	SNP	ENST00000395895.2	37	c.8G>C		.	.	.	.	.	.	.	.	.	.	G	11.47	1.647862	0.29336	.	.	ENSG00000095794	ENST00000474931;ENST00000468236;ENST00000490511	T;T;T	0.33865	1.39;1.43;1.39	4.49	1.41	0.22369	.	.	.	.	.	T	0.17746	0.0426	N	0.08118	0	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20273	-1.0280	9	0.87932	D	0	.	5.4091	0.16339	0.1864:0.1633:0.6503:0.0	.	3;3	A8K014;E9PAR4	.;.	T	3	ENSP00000417562:R3T;ENSP00000419810:R3T;ENSP00000417327:R3T	ENSP00000419810:R3T	R	+	2	0	CREM	35525004	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.334000	0.19787	0.303000	0.22785	0.655000	0.94253	AGA		0.443	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		14	37	0	0	0	1	0	14	37				
LRRC8C	84230	broad.mit.edu	37	1	90178346	90178346	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90178346C>G	ENST00000370454.4	+	3	472	c.217C>G	c.(217-219)Caa>Gaa	p.Q73E	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	73					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GAATGTCTCTCAAGCAGTTGC	0.463																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(217-219)Caa>Gaa		leucine rich repeat containing 8 family, member C							105.0	98.0	101.0					1																	90178346		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178346C>G		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.217C>G	1.37:g.90178346C>G	ENSP00000359483:p.Gln73Glu					LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.Q73E	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	472	+		all_lung(203;0.126)	73					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.217C>G	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	2.881	-0.231716	0.05983	.	.	ENSG00000171488	ENST00000370454	T	0.22336	1.96	5.78	5.78	0.91487	.	0.514690	0.21888	N	0.067622	T	0.02970	0.0088	N	0.08118	0	0.25838	N	0.98409	B	0.02656	0.0	B	0.04013	0.001	T	0.31110	-0.9955	10	0.02654	T	1	.	12.9833	0.58577	0.2677:0.7323:0.0:0.0	.	73	Q8TDW0	LRC8C_HUMAN	E	73	ENSP00000359483:Q73E	ENSP00000359483:Q73E	Q	+	1	0	LRRC8C	89950934	0.138000	0.22547	0.998000	0.56505	0.977000	0.68977	2.817000	0.48034	2.724000	0.93272	0.655000	0.94253	CAA		0.463	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		15	66	0	0	0	1	0	15	66				
CEP57L1	285753	broad.mit.edu	37	6	109415189	109415189	+	5'Flank	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:109415189G>C	ENST00000517392.1	+	0	0				CEP57L1_ENST00000407272.1_5'Flank|CEP57L1_ENST00000519095.1_5'Flank|SESN1_ENST00000436639.2_Missense_Mutation_p.Q30E|CEP57L1_ENST00000521522.1_5'Flank|CEP57L1_ENST00000336977.4_5'Flank|CEP57L1_ENST00000368968.2_5'Flank|CEP57L1_ENST00000521277.1_5'Flank|CEP57L1_ENST00000368970.2_5'Flank|CEP57L1_ENST00000523787.1_5'Flank|SESN1_ENST00000517548.1_5'Flank|CEP57L1_ENST00000520883.1_5'Flank	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1						microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAAATGGTTTGCCTAATGTTT	0.443																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(88-90)Caa>Gaa		sestrin 1							203.0	178.0	186.0					6																	109415189		2203	4300	6503	SO:0001631	upstream_gene_variant	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109415189G>C	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336		6.37:g.109415189G>C	Exception_encountered						p.Q30E	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)	1	833	-		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)	86					G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	c.88C>G	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471836	0.26423	.	.	ENSG00000080546	ENST00000436639	T	0.17370	2.28	5.93	5.01	0.66863	.	0.263977	0.38959	N	0.001510	T	0.04815	0.0130	L	0.44542	1.39	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.11842	-1.0571	10	0.02654	T	1	-9.981	10.674	0.45774	0.0:0.1417:0.7117:0.1465	.	30	Q9Y6P5-2	.	E	30	ENSP00000393762:Q30E	ENSP00000393762:Q30E	Q	-	1	0	SESN1	109521882	1.000000	0.71417	0.972000	0.41901	0.071000	0.16799	4.657000	0.61490	2.805000	0.96524	0.655000	0.94253	CAA		0.443	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		31	125	0	0	0	1	0	31	125				
PDCD10	11235	broad.mit.edu	37	3	167413412	167413412	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:167413412C>T	ENST00000392750.2	-	6	784	c.367G>A	c.(367-369)Gac>Aac	p.D123N	PDCD10_ENST00000470131.1_Missense_Mutation_p.D123N|PDCD10_ENST00000487947.2_Missense_Mutation_p.D123N|PDCD10_ENST00000492396.1_Missense_Mutation_p.D60N|PDCD10_ENST00000461494.1_Missense_Mutation_p.D123N|PDCD10_ENST00000497056.2_Missense_Mutation_p.D123N|PDCD10_ENST00000473645.2_Missense_Mutation_p.D123N|PDCD10_ENST00000471885.1_Missense_Mutation_p.D123N	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	123					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						CTCACTCTGTCATTGATCTCA	0.363																																						ENST00000392750.2																			0				central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						c.(367-369)Gac>Aac		programmed cell death 10							233.0	226.0	229.0					3																	167413412		2203	4300	6503	SO:0001583	missense	11235				angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167413412C>T	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.367G>A	3.37:g.167413412C>T	ENSP00000376506:p.Asp123Asn					PDCD10_ENST00000471885.1_Missense_Mutation_p.D123N|PDCD10_ENST00000497056.2_Missense_Mutation_p.D123N|PDCD10_ENST00000470131.1_Missense_Mutation_p.D123N|PDCD10_ENST00000473645.2_Missense_Mutation_p.D123N|PDCD10_ENST00000487947.2_Missense_Mutation_p.D123N|PDCD10_ENST00000492396.1_Missense_Mutation_p.D60N|PDCD10_ENST00000461494.1_Missense_Mutation_p.D123N	p.D123N	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN			6	784	-			123					A8K515|D3DNN5|O14811	Missense_Mutation	SNP	ENST00000392750.2	37	c.367G>A	CCDS3202.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898057	0.72639	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000492396;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139	T;T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.83	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.55213	1.73	0.80722	D	1	B	0.25772	0.134	B	0.32342	0.144	T	0.61013	-0.7148	10	0.51188	T	0.08	-11.2748	14.998	0.71449	0.0:0.9317:0.0:0.0683	.	123	Q9BUL8	PDC10_HUMAN	N	123;123;123;60;123;123;123;123;123;123;123	ENSP00000376506:D123N;ENSP00000418317:D123N;ENSP00000420553:D123N;ENSP00000417309:D60N;ENSP00000420021:D123N;ENSP00000417202:D123N;ENSP00000417118:D123N;ENSP00000420266:D123N;ENSP00000417876:D123N;ENSP00000420424:D123N;ENSP00000420014:D123N	ENSP00000376506:D123N	D	-	1	0	PDCD10	168896106	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.711000	0.84669	1.478000	0.48253	0.655000	0.94253	GAC		0.363	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		34	158	0	0	0	1	0	34	158				
HIF3A	64344	broad.mit.edu	37	19	46811510	46811510	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46811510C>T	ENST00000377670.4	+	4	427	c.396C>T	c.(394-396)ttC>ttT	p.F132F	HIF3A_ENST00000339613.2_Silent_p.F76F|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Silent_p.F63F|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Silent_p.F81F|HIF3A_ENST00000472815.1_Silent_p.F63F|HIF3A_ENST00000300862.3_Silent_p.F130F|HIF3A_ENST00000600383.1_Silent_p.F63F	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	132	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TCTTTGATTTCATCCACCCCT	0.587																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(226-228)ttC>ttT		hypoxia inducible factor 3, alpha subunit							157.0	143.0	148.0					19																	46811510		2203	4300	6503	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46811510C>T	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.396C>T	19.37:g.46811510C>T						HIF3A_ENST00000600383.1_Silent_p.F63F|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Silent_p.F63F|HIF3A_ENST00000472815.1_Silent_p.F63F|HIF3A_ENST00000420102.2_Silent_p.F81F|HIF3A_ENST00000377670.4_Silent_p.F132F|HIF3A_ENST00000300862.3_Silent_p.F130F	p.F76F			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	4	483	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	132					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.228C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	9.909	1.208912	0.22205	.	.	ENSG00000124440	ENST00000472815	.	.	.	3.86	-1.64	0.08318	.	.	.	.	.	T	0.52338	0.1728	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46925	-0.9156	4	.	.	.	.	8.0804	0.30741	0.0:0.453:0.0:0.547	.	.	.	.	Y	105	.	.	H	+	1	0	HIF3A	51503350	0.002000	0.14202	0.965000	0.40720	0.980000	0.70556	-0.031000	0.12287	-0.081000	0.12662	0.561000	0.74099	CAT		0.587	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			38	110	0	0	0	1	0	38	110				
ERVW-1	30816	broad.mit.edu	37	7	92099476	92099476	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:92099476G>T	ENST00000493463.2	-	1	1143	c.220C>A	c.(220-222)Cac>Aac	p.H74N	AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.H74N	NM_014590.3	NP_055405.3	Q9UQF0	SYCY1_HUMAN	endogenous retrovirus group W, member 1	74					anatomical structure morphogenesis (GO:0009653)|syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				endometrium(1)|large_intestine(1)|lung(15)	17						gtggcagagtgatagcagttg	0.483																																						ENST00000493463.2																			0				endometrium(1)|large_intestine(1)|lung(15)	17						c.(220-222)Cac>Aac									78.0	82.0	81.0					7																	92099476		2203	4300	6503	SO:0001583	missense	30816				syncytium formation	integral to membrane|plasma membrane|virion		g.chr7:92099476G>T	AF208161	CCDS5626.1	7q21.2	2011-06-16	2011-05-05	2011-05-05	ENSG00000242950	ENSG00000242950			13525	other	endogenous retrovirus	"""envelope protein"", ""HERV-W Env glycoprotein"", ""enverin"", ""syncytin-1"", ""HERV-tryptophan envelope protein"", ""HERV-W{7q21.1} provirus ancestral Env polyprotein"", ""HERV-7q envelope protein"", ""envelope glycoprotein"", ""syncytin"""	604659	"""endogenous retroviral family W, env(C7), member 1"""	ERVWE1		9835022, 9882319, 21542922	Standard	NM_001130925		Approved	HERV-W, HERV-W-ENV, HERVW, HERV-7q	uc022ahe.1	Q9UQF0	OTTHUMG00000131249	ENST00000493463.2:c.220C>A	7.37:g.92099476G>T	ENSP00000419945:p.His74Asn					AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron|ERVW-1_ENST00000603053.1_Missense_Mutation_p.H74N	p.H74N	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN			1	1143	-			74					B2RPD4|O95244|O95245|Q8NHY7|Q9NRZ2|Q9NZG3	Missense_Mutation	SNP	ENST00000493463.2	37	c.220C>A	CCDS5626.1	.	.	.	.	.	.	.	.	.	.	g	0	-2.834658	0.00069	.	.	ENSG00000242950	ENST00000493463	T	0.18960	2.18	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.04907	0.0132	N	0.01352	-0.895	0.09310	N	1	.	.	.	.	.	.	T	0.29027	-1.0025	6	0.12766	T	0.61	.	.	.	.	.	.	.	.	N	74	ENSP00000419945:H74N	ENSP00000419945:H74N	H	-	1	0	ERVW-1	91937412	0.494000	0.26043	0.291000	0.24904	0.294000	0.27393	-1.377000	0.02558	-2.050000	0.00905	-2.056000	0.00403	CAC		0.483	ERVW-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254009.2	NM_014590		29	74	1	0	1.62565e-12	1	1.71955e-12	29	74				
CLPTM1	1209	broad.mit.edu	37	19	45491406	45491406	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:45491406C>G	ENST00000337392.5	+	9	1257	c.1107C>G	c.(1105-1107)gtC>gtG	p.V369V	CLPTM1_ENST00000546079.1_Silent_p.V267V|CLPTM1_ENST00000541297.2_Silent_p.V355V	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	369					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TTCACAGTGTCTTCGAGTTCC	0.612																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1063-1065)gtC>gtG		cleft lip and palate associated transmembrane protein 1							263.0	201.0	222.0					19																	45491406		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45491406C>G	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1107C>G	19.37:g.45491406C>G						CLPTM1_ENST00000337392.5_Silent_p.V369V|CLPTM1_ENST00000546079.1_Silent_p.V267V	p.V355V			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	9	1530	+		all_neural(266;0.224)|Ovarian(192;0.231)	369					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.1065C>G	CCDS12651.1																																																																																				0.612	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		22	93	0	0	0	1	0	22	93				
SNX33	257364	broad.mit.edu	37	15	75941771	75941771	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:75941771G>C	ENST00000308527.5	+	1	1525	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	110					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGGTAGCTTTGAGGAGGATGA	0.632																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(328-330)Gag>Cag		sorting nexin 33							70.0	66.0	68.0					15																	75941771		2197	4294	6491	SO:0001583	missense	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75941771G>C	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.328G>C	15.37:g.75941771G>C	ENSP00000311427:p.Glu110Gln						p.E110Q	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			1	1525	+			110					B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	c.328G>C	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	3.957	-0.011063	0.07727	.	.	ENSG00000173548	ENST00000308527	T	0.64438	-0.1	4.83	4.83	0.62350	.	0.460788	0.24737	N	0.036007	T	0.35828	0.0945	N	0.03608	-0.345	0.33638	D	0.606865	B	0.33073	0.396	B	0.29176	0.099	T	0.44236	-0.9341	10	0.09084	T	0.74	-8.279	16.6772	0.85282	0.0:0.0:1.0:0.0	.	110	Q8WV41	SNX33_HUMAN	Q	110	ENSP00000311427:E110Q	ENSP00000311427:E110Q	E	+	1	0	SNX33	73728826	1.000000	0.71417	0.968000	0.41197	0.898000	0.52572	6.399000	0.73248	2.505000	0.84491	0.650000	0.86243	GAG		0.632	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		17	52	0	0	0	1	0	17	52				
GPR139	124274	broad.mit.edu	37	16	20043513	20043513	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:20043513C>T	ENST00000570682.1	-	2	906	c.606G>A	c.(604-606)ttG>ttA	p.L202L		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	202					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGATTGAGTTCAAGATGAAGA	0.512																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(604-606)ttG>ttA		G protein-coupled receptor 139							83.0	79.0	80.0					16																	20043513		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043513C>T	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.606G>A	16.37:g.20043513C>T							p.L202L	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	906	-			202					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.606G>A	CCDS32398.1																																																																																				0.512	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		19	44	0	0	0	1	0	19	44				
RHOA	387	broad.mit.edu	37	3	49395180	49395180	+	IGR	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49395180C>G	ENST00000418115.1	-	0	2031				GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_3'UTR|GPX1_ENST00000419783.1_Splice_Site_p.E85Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTGGCGTTCTCCTACAGGAGA	0.517																																						ENST00000419783.1																			0				breast(1)|large_intestine(2)|lung(1)	4						c.e2-1		glutathione peroxidase 1	Glutathione(DB00143)						44.0	45.0	45.0					3																	49395180		1936	4097	6033	SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395180C>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395180C>G						GPX1_ENST00000419349.1_3'UTR|GPX1_ENST00000496791.1_5'UTR	p.E85_splice	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	574	-			85					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Splice_Site	SNP	ENST00000418115.1	37	c.252_splice	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931308	0.92389	.	.	ENSG00000233276	ENST00000419783	T	0.17370	2.28	5.42	4.53	0.55603	Thioredoxin-like fold (2);	0.054288	0.64402	D	0.000001	T	0.54078	0.1836	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69250	-0.5194	10	0.87932	D	0	.	14.1199	0.65180	0.1517:0.8483:0.0:0.0	.	85	P07203	GPX1_HUMAN	Q	85	ENSP00000407375:E85Q	ENSP00000407375:E85Q	E	-	1	0	GPX1	49370184	1.000000	0.71417	0.990000	0.47175	0.930000	0.56654	7.666000	0.83877	1.240000	0.43803	0.561000	0.74099	GAG		0.517	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		5	63	0	0	0	1	0	5	63				
DTX3	196403	broad.mit.edu	37	12	58002908	58002908	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:58002908G>A	ENST00000548198.1	+	5	2521	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	DTX3_ENST00000548804.1_Silent_p.L339L|ARHGEF25_ENST00000286494.4_5'Flank|DTX3_ENST00000551632.1_Silent_p.L342L|ARHGEF25_ENST00000333972.7_5'Flank|AC025165.8_ENST00000356672.3_RNA|DTX3_ENST00000337737.3_Silent_p.L339L			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	339					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					AAGAGGAGCTGAGAGCGAAGG	0.547																																						ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(1015-1017)ctG>ctA		deltex homolog 3 (Drosophila)							113.0	115.0	115.0					12																	58002908		1984	4158	6142	SO:0001819	synonymous_variant	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58002908G>A	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.1017G>A	12.37:g.58002908G>A						DTX3_ENST00000337737.3_Silent_p.L339L|DTX3_ENST00000548804.1_Silent_p.L339L|DTX3_ENST00000551632.1_Silent_p.L342L	p.L339L			Q8N9I9	DTX3_HUMAN			5	2521	+	Melanoma(17;0.122)		339					Q53ZZ2|Q8NAU6|Q8NDS8	Silent	SNP	ENST00000548198.1	37	c.1017G>A	CCDS41800.1																																																																																				0.547	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		8	51	0	0	0	1	0	8	51				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			30	66	0	0	0	1	0	30	66				
ARSE	415	broad.mit.edu	37	X	2873522	2873522	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:2873522G>A	ENST00000381134.3	-	4	308	c.242C>T	c.(241-243)tCt>tTt	p.S81F	ARSE_ENST00000496095.1_5'Flank|ARSE_ENST00000540563.1_Missense_Mutation_p.S36F|ARSE_ENST00000545496.1_Missense_Mutation_p.S106F	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	81					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGATGCGGCAGAGATGTGTTG	0.517																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(316-318)tCt>tTt		arylsulfatase E (chondrodysplasia punctata 1)							133.0	86.0	102.0					X																	2873522		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2873522G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.242C>T	X.37:g.2873522G>A	ENSP00000370526:p.Ser81Phe					ARSE_ENST00000381134.3_Missense_Mutation_p.S81F|ARSE_ENST00000540563.1_Missense_Mutation_p.S36F	p.S106F			P51690	ARSE_HUMAN			5	608	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	81					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.317C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818786	0.50633	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134;ENST00000438544	D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24	3.22	3.22	0.36961	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.178102	0.48767	D	0.000170	D	0.98972	0.9650	M	0.93062	3.375	0.46701	D	0.999166	P;P;P	0.40660	0.658;0.658;0.726	P;P;P	0.51550	0.583;0.673;0.515	D	0.99874	1.1101	10	0.87932	D	0	.	14.1872	0.65612	0.0:0.0:1.0:0.0	.	36;106;81	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	F	36;106;81;81	ENSP00000438198:S36F;ENSP00000441417:S106F;ENSP00000370526:S81F;ENSP00000406528:S81F	ENSP00000370526:S81F	S	-	2	0	ARSE	2883522	0.992000	0.36948	0.094000	0.20943	0.010000	0.07245	7.857000	0.86963	1.394000	0.46624	0.538000	0.68166	TCT		0.517	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		15	23	0	0	0	1	0	15	23				
ALG14	199857	broad.mit.edu	37	1	95538323	95538323	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:95538323C>G	ENST00000370205.5	-	1	178	c.132G>C	c.(130-132)ggG>ggC	p.G44G	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	44					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		ACTTACCGGACCCAGCCACTA	0.562																																						ENST00000370205.4																			0				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6						c.(130-132)ggG>ggC		ALG14, UDP-N-acetylglucosaminyltransferase subunit							117.0	108.0	111.0					1																	95538323		2203	4300	6503	SO:0001819	synonymous_variant	199857				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chr1:95538323C>G		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"""asparagine-linked glycosylation 14 homolog (yeast)"", ""asparagine-linked glycosylation 14 homolog (S. cerevisiae)"""			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.132G>C	1.37:g.95538323C>G						ALG14_ENST00000495856.1_5'UTR	p.G44G	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	1	178	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)	44					A8K030	Silent	SNP	ENST00000370205.5	37	c.132G>C	CCDS752.1																																																																																				0.562	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		30	102	0	0	0	1	0	30	102				
NPHP3	27031	broad.mit.edu	37	3	132433961	132433961	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:132433961C>T	ENST00000337331.5	-	5	1011	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000326682.8_Missense_Mutation_p.E309K	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	309					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCTGGGTTTCATCTGTATAA	0.328																																						ENST00000326682.8																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(925-927)Gaa>Aaa		nephronophthisis 3 (adolescent)							80.0	81.0	80.0					3																	132433961		2203	4299	6502	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132433961C>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.925G>A	3.37:g.132433961C>T	ENSP00000338766:p.Glu309Lys					NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000337331.5_Missense_Mutation_p.E309K	p.E309K			Q7Z494	NPHP3_HUMAN			5	1001	-			309					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.925G>A	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	35	5.580230	0.96565	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.92446	-3.04;-2.93	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.94873	0.8343	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.57204	0.815	D	0.93677	0.6995	10	0.48119	T	0.1	-33.3228	20.8794	0.99867	0.0:1.0:0.0:0.0	.	309	Q7Z494	NPHP3_HUMAN	K	309	ENSP00000319909:E309K;ENSP00000338766:E309K	ENSP00000319909:E309K	E	-	1	0	NPHP3	133916651	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.860000	0.69546	2.941000	0.99782	0.655000	0.94253	GAA		0.328	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		44	188	0	0	0	1	0	44	188				
IRS4	8471	broad.mit.edu	37	X	107977794	107977794	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:107977794G>C	ENST00000372129.2	-	1	1857	c.1781C>G	c.(1780-1782)tCa>tGa	p.S594*	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	594					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCCACTTCCTGAGCCTTTGCC	0.537																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1780-1782)tCa>tGa		insulin receptor substrate 4							193.0	194.0	193.0					X																	107977794		2203	4300	6503	SO:0001587	stop_gained	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977794G>C	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1781C>G	X.37:g.107977794G>C	ENSP00000361202:p.Ser594*						p.S594*	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1857	-			594						Nonsense_Mutation	SNP	ENST00000372129.2	37	c.1781C>G	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929136	0.92389	.	.	ENSG00000133124	ENST00000372129	.	.	.	4.52	4.52	0.55395	.	0.241207	0.21813	N	0.068729	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-4.9806	11.6084	0.51045	0.0:0.0:1.0:0.0	.	.	.	.	X	594	.	ENSP00000361202:S594X	S	-	2	0	IRS4	107864450	1.000000	0.71417	0.998000	0.56505	0.319000	0.28217	3.773000	0.55333	2.219000	0.72066	0.600000	0.82982	TCA		0.537	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		66	91	0	0	0	1	0	66	91				
PCDHGA12	26025	broad.mit.edu	37	5	140810366	140810366	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:140810366G>C	ENST00000252085.3	+	1	182	c.40G>C	c.(40-42)Gtc>Ctc	p.V14L	PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	14					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAGGGCTTGTCCTGCTGGG	0.527																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(40-42)Gtc>Ctc									80.0	89.0	86.0					5																	140810366		2203	4300	6503	SO:0001583	missense	26025							g.chr5:140810366G>C	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.40G>C	5.37:g.140810366G>C	ENSP00000252085:p.Val14Leu					PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V14L	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	182	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.40G>C	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	2.354	-0.348177	0.05208	.	.	ENSG00000253159	ENST00000252085	T	0.46063	0.88	5.79	0.332	0.15938	.	.	.	.	.	T	0.29458	0.0734	L	0.42686	1.345	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.13407	0.009;0.001	T	0.24083	-1.0170	9	0.38643	T	0.18	.	3.348	0.07142	0.2785:0.1082:0.5027:0.1106	.	14;14	O60330-2;O60330	.;PCDGC_HUMAN	L	14	ENSP00000252085:V14L	ENSP00000252085:V14L	V	+	1	0	PCDHGA12	140790550	0.000000	0.05858	0.825000	0.32803	0.029000	0.11900	0.659000	0.24994	0.095000	0.17434	-0.145000	0.13849	GTC		0.527	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		39	93	0	0	0	1	0	39	93				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	76	0	0	0	1	0	4	76				
RALBP1	10928	broad.mit.edu	37	18	9522465	9522465	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:9522465G>C	ENST00000019317.4	+	4	1234	c.1011G>C	c.(1009-1011)atG>atC	p.M337I	RALBP1_ENST00000383432.3_Missense_Mutation_p.M337I|RP11-61L19.3_ENST00000609094.1_RNA			Q15311	RBP1_HUMAN	ralA binding protein 1	337	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	AAACAAAAATGAATATACAGA	0.418																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(1009-1011)atG>atC		ralA binding protein 1							76.0	74.0	75.0					18																	9522465		2203	4300	6503	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9522465G>C	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1011G>C	18.37:g.9522465G>C	ENSP00000019317:p.Met337Ile					RALBP1_ENST00000383432.3_Missense_Mutation_p.M337I	p.M337I			Q15311	RBP1_HUMAN			4	1234	+			337			Rho-GAP.		D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.1011G>C	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899819	0.91962	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.39592	1.07;1.07	5.74	5.74	0.90152	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	H	0.98769	4.325	0.80722	D	1	D	0.65815	0.995	D	0.77004	0.989	D	0.88159	0.2856	10	0.87932	D	0	-20.4378	19.9279	0.97110	0.0:0.0:1.0:0.0	.	337	Q15311	RBP1_HUMAN	I	337	ENSP00000019317:M337I;ENSP00000372924:M337I	ENSP00000019317:M337I	M	+	3	0	RALBP1	9512465	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.715000	0.92844	0.655000	0.94253	ATG		0.418	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		23	61	0	0	0	1	0	23	61				
USP40	55230	broad.mit.edu	37	2	234407258	234407258	+	Splice_Site	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:234407258C>T	ENST00000427112.2	-	22	2683	c.2648G>A	c.(2647-2649)gGa>gAa	p.G883E	USP40_ENST00000409945.1_Splice_Site_p.G59E|USP40_ENST00000251722.6_Splice_Site_p.G883E|USP40_ENST00000450966.1_Splice_Site_p.G895E			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	883					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G895V(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCAGGCATCTCCTATAAAGGA	0.373																																						ENST00000251722.6																			2	Substitution - Missense(2)	p.G895V(2)	lung(2)	breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.e23-1		ubiquitin specific peptidase 40							57.0	53.0	54.0					2																	234407258		1848	4089	5937	SO:0001630	splice_region_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234407258C>T	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2648-1G>A	2.37:g.234407258C>T						USP40_ENST00000427112.2_Splice_Site_p.G883_splice|USP40_ENST00000450966.1_Splice_Site_p.G895_splice|USP40_ENST00000409945.1_Splice_Site_p.G59_splice	p.G883_splice			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	23	2765	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	883					Q6NX38|Q70EL0	Splice_Site	SNP	ENST00000427112.2	37	c.2647_splice	CCDS46547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.98|19.98	3.927646|3.927646	0.73327|0.73327	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000430158|ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	.|T;T;T	.|0.07327	.|3.2;3.2;3.2	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.279542	.|0.45867	.|N	.|0.000338	T|T	0.28333|0.28333	0.0700|0.0700	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.998	T|T	0.00313|0.00313	-1.1825|-1.1825	5|10	.|0.87932	.|D	.|0	.|.	16.2421|16.2421	0.82418|0.82418	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|895;59;543	.|Q9NVE5-3;Q9NVE5-2;B4DN96	.|.;.;.	K|E	59|895;883;883;59	.|ENSP00000415434:G895E;ENSP00000251722:G883E;ENSP00000387898:G883E	.|ENSP00000251722:G883E	E|G	-|-	1|2	0|0	USP40|USP40	234071997|234071997	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.622000|0.622000	0.37654|0.37654	4.692000|4.692000	0.61746|0.61746	2.679000|2.679000	0.91253|0.91253	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.373	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	Missense_Mutation	6	35	0	0	0	1	0	6	35				
EHBP1L1	254102	broad.mit.edu	37	11	65350672	65350672	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:65350672G>A	ENST00000309295.4	+	9	2794	c.2529G>A	c.(2527-2529)gaG>gaA	p.E843E		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	843	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCCCAGGAGACAGAGGTCG	0.567																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2527-2529)gaG>gaA		EH domain binding protein 1-like 1							28.0	30.0	29.0					11																	65350672		1851	4094	5945	SO:0001819	synonymous_variant	254102							g.chr11:65350672G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2529G>A	11.37:g.65350672G>A							p.E843E	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	2794	+			843			Glu-rich.		Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	c.2529G>A	CCDS44649.1																																																																																				0.567	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		15	31	0	0	0	1	0	15	31				
DCX	1641	broad.mit.edu	37	X	110644281	110644281	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:110644281G>C	ENST00000338081.3	-	3	1056	c.885C>G	c.(883-885)atC>atG	p.I295M	DCX_ENST00000488120.1_Missense_Mutation_p.I214M|DCX_ENST00000356915.2_Missense_Mutation_p.I214M|DCX_ENST00000356220.3_Missense_Mutation_p.I214M|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.I214M	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	295	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		I -> T (in SBHX). {ECO:0000269|PubMed:11175293}.		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						TGGCTTCTGTGATATCAGTGA	0.468																																						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.(883-885)atC>atG		doublecortin							120.0	118.0	118.0					X																	110644281		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644281G>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.885C>G	X.37:g.110644281G>C	ENSP00000337697:p.Ile295Met					DCX_ENST00000356915.2_Missense_Mutation_p.I214M|DCX_ENST00000356220.3_Missense_Mutation_p.I214M|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.I214M|DCX_ENST00000371993.2_Missense_Mutation_p.I214M	p.I295M	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			3	1056	-			295		I -> T (in SBHX).	Doublecortin 2.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.885C>G	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.88|13.88	2.368866|2.368866	0.42003|0.42003	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120|ENST00000358070	D;D;D;D;D|.	0.94417|.	-3.42;-3.42;-3.42;-3.42;-3.42|.	4.74|4.74	2.9|2.9	0.33743|0.33743	Doublecortin domain (5);|.	0.176952|.	0.47852|.	D|.	0.000208|.	T|.	0.70228|.	0.3200|.	M|M	0.78223|0.78223	2.4|2.4	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.54207|.	0.965;0.965|.	D;D|.	0.66497|.	0.944;0.944|.	T|.	0.67389|.	-0.5683|.	10|.	0.62326|.	D|.	0.03|.	.|.	9.0876|9.0876	0.36590|0.36590	0.081:0.0:0.7722:0.1468|0.081:0.0:0.7722:0.1468	.|.	283;295|.	B4DM53;O43602|.	.;DCX_HUMAN|.	M|X	214;214;295;214;214|287	ENSP00000349385:I214M;ENSP00000361061:I214M;ENSP00000337697:I295M;ENSP00000348553:I214M;ENSP00000419861:I214M|.	ENSP00000337697:I295M|.	I|S	-|-	3|2	3|0	DCX|DCX	110530937|110530937	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.258000|0.258000	0.26162|0.26162	3.493000|3.493000	0.53266|0.53266	0.458000|0.458000	0.26988|0.26988	0.600000|0.600000	0.82982|0.82982	ATC|TCA		0.468	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		37	54	0	0	0	1	0	37	54				
RYK	6259	broad.mit.edu	37	3	133894574	133894574	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:133894574G>A	ENST00000427044.2	-	14	1497	c.887C>T	c.(886-888)gCc>gTc	p.A296V	RYK_ENST00000296084.4_Missense_Mutation_p.A486V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	482					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						TCTGGAGAGGGCATTGTCTGT	0.418																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(886-888)gCc>gTc		receptor-like tyrosine kinase							120.0	115.0	117.0					3																	133894574		1907	4137	6044	SO:0001583	missense	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133894574G>A	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.887C>T	3.37:g.133894574G>A	ENSP00000399527:p.Ala296Val					RYK_ENST00000296084.4_Missense_Mutation_p.A486V	p.A296V			P34925	RYK_HUMAN			14	1497	-			482					Q04696	Missense_Mutation	SNP	ENST00000427044.2	37	c.887C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.751407|5.751407	0.96890|0.96890	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000296084;ENST00000427044|ENST00000460933	T;D|.	0.89123|.	0.78;-2.47|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82825|0.82825	0.5121|0.5121	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.998|.	D;D|.	0.79108|.	0.992;0.987|.	T|T	0.83060|0.83060	-0.0148|-0.0148	10|5	0.87932|.	D|.	0|.	-5.0268|-5.0268	19.8965|19.8965	0.96963|0.96963	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	482;485|.	P34925;P34925-2|.	RYK_HUMAN;.|.	V|S	486;296|465	ENSP00000296084:A486V;ENSP00000399527:A296V|.	ENSP00000296084:A486V|.	A|P	-|-	2|1	0|0	RYK|RYK	135377264|135377264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.651000|7.651000	0.83577|0.83577	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.418	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		4	120	0	0	0	1	0	4	120				
SHH	6469	broad.mit.edu	37	7	155604655	155604655	+	Missense_Mutation	SNP	C	C	G	rs370338764		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:155604655C>G	ENST00000297261.2	-	1	312	c.162G>C	c.(160-162)aaG>aaC	p.K54N		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	54					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCTAGGGTCTTCTCGGCCA	0.552																																						ENST00000297261.2																			0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(160-162)aaG>aaC		sonic hedgehog							164.0	179.0	174.0					7																	155604655		2203	4300	6503	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155604655C>G		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.162G>C	7.37:g.155604655C>G	ENSP00000297261:p.Lys54Asn						p.K54N	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	312	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	54					A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.162G>C	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	C	4.886	0.164597	0.09287	.	.	ENSG00000164690	ENST00000297261	D	0.99382	-5.8	4.87	3.99	0.46301	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.052656	0.85682	D	0.000000	D	0.96071	0.8720	N	0.00424	-1.51	0.54753	D	0.999984	D	0.63046	0.992	P	0.59424	0.857	D	0.94248	0.7491	10	0.19147	T	0.46	.	12.8467	0.57833	0.0:0.9211:0.0:0.0789	.	54	Q15465	SHH_HUMAN	N	54	ENSP00000297261:K54N	ENSP00000297261:K54N	K	-	3	2	SHH	155297416	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	3.857000	0.55972	1.034000	0.39945	0.455000	0.32223	AAG		0.552	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		54	125	0	0	0	1	0	54	125				
ACSBG1	23205	broad.mit.edu	37	15	78470989	78470989	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:78470989C>T	ENST00000258873.4	-	11	1874	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	ACSBG1_ENST00000560817.1_Missense_Mutation_p.D315N|ACSBG1_ENST00000541759.1_Missense_Mutation_p.D315N	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	557					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGGAAGCCATCGGCGTCCAGG	0.612																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1669-1671)Gat>Aat		acyl-CoA synthetase bubblegum family member 1							71.0	52.0	58.0					15																	78470989		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78470989C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1669G>A	15.37:g.78470989C>T	ENSP00000258873:p.Asp557Asn					ACSBG1_ENST00000541759.1_Missense_Mutation_p.D315N|ACSBG1_ENST00000560817.1_Missense_Mutation_p.D315N	p.D557N	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			11	1874	-			557					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.1669G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	2.111	-0.403799	0.04832	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.15603	2.41;2.41	5.48	4.56	0.56223	AMP-dependent synthetase/ligase (1);	0.118717	0.53938	D	0.000043	T	0.13500	0.0327	L	0.46157	1.445	0.20821	N	0.999849	P;B	0.37101	0.582;0.399	B;B	0.32211	0.09;0.142	T	0.16100	-1.0414	10	0.26408	T	0.33	-26.2663	9.8889	0.41279	0.1382:0.7885:0.0:0.0733	.	553;557	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	N	557;315	ENSP00000258873:D557N;ENSP00000439955:D315N	ENSP00000258873:D557N	D	-	1	0	ACSBG1	76258044	0.221000	0.23642	0.031000	0.17742	0.142000	0.21351	0.861000	0.27885	1.326000	0.45319	0.655000	0.94253	GAT		0.612	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		7	27	0	0	0	1	0	7	27				
NLRX1	79671	broad.mit.edu	37	11	119050489	119050489	+	Missense_Mutation	SNP	G	G	A	rs556602737	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:119050489G>A	ENST00000409109.1	+	7	2346	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	NLRX1_ENST00000409991.1_Missense_Mutation_p.D587N|NLRX1_ENST00000409265.4_Missense_Mutation_p.D587N|NLRX1_ENST00000525863.1_Missense_Mutation_p.D587N|NLRX1_ENST00000292199.2_Missense_Mutation_p.D587N	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	587	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCGAGAGGAGGACTACTACAA	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		19314	0.0		0.0	False		,,,				2504	0.002					ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1759-1761)Gac>Aac		NLR family member X1							116.0	118.0	117.0					11																	119050489		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050489G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1759G>A	11.37:g.119050489G>A	ENSP00000387334:p.Asp587Asn					NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.D587N|NLRX1_ENST00000409991.1_Missense_Mutation_p.D587N|NLRX1_ENST00000409265.4_Missense_Mutation_p.D587N|NLRX1_ENST00000292199.2_Missense_Mutation_p.D587N	p.D587N			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2346	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	587			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.1759G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203353	0.95033	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.80738	-1.33;-1.33;-1.41;-1.33;-1.41	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	L	0.34521	1.04	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82494	-0.0429	10	0.27785	T	0.31	.	19.0214	0.92917	0.0:0.0:1.0:0.0	.	587;587	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	N	587	ENSP00000386851:D587N;ENSP00000292199:D587N;ENSP00000386858:D587N;ENSP00000387334:D587N;ENSP00000433442:D587N	ENSP00000292199:D587N	D	+	1	0	NLRX1	118555699	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.325000	0.96381	2.503000	0.84419	0.561000	0.74099	GAC		0.597	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		32	76	0	0	0	1	0	32	76				
CYP4B1	1580	broad.mit.edu	37	1	47283805	47283805	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:47283805C>G	ENST00000271153.4	+	11	1308	c.1272C>G	c.(1270-1272)gtC>gtG	p.V424V	CYP4B1_ENST00000371923.4_Silent_p.V425V|CYP4B1_ENST00000371919.4_Silent_p.V410V|CYP4B1_ENST00000452782.2_Silent_p.V262V			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	424					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CCCTTCAGGTCTTTGACTCTC	0.572																																						ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1270-1272)gtC>gtG		cytochrome P450, family 4, subfamily B, polypeptide 1							139.0	129.0	133.0					1																	47283805		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47283805C>G	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1272C>G	1.37:g.47283805C>G						CYP4B1_ENST00000452782.2_Silent_p.V262V|CYP4B1_ENST00000371919.4_Silent_p.V410V|CYP4B1_ENST00000371923.4_Silent_p.V425V	p.V424V			P13584	CP4B1_HUMAN			11	1308	+	Acute lymphoblastic leukemia(166;0.155)		424					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.1272C>G	CCDS542.1																																																																																				0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		19	88	0	0	0	1	0	19	88				
HNRNPH2	3188	broad.mit.edu	37	X	100668237	100668237	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:100668237G>T	ENST00000316594.5	+	2	1339	c.1261G>T	c.(1261-1263)Gga>Tga	p.G421*		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	421	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TGGTGGTTATGGAGGTGGTTA	0.493																																						ENST00000316594.5																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(1261-1263)Gga>Tga		heterogeneous nuclear ribonucleoprotein H2 (H')							188.0	182.0	184.0					X																	100668237		2203	4300	6503	SO:0001587	stop_gained	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100668237G>T	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1261G>T	X.37:g.100668237G>T	ENSP00000361927:p.Gly421*						p.G421*	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN			2	1339	+			421			2 X 16 AA Gly-rich approximate repeats.		A1L400|Q9HHA7	Nonsense_Mutation	SNP	ENST00000316594.5	37	c.1261G>T	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782048	0.90282	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	.	.	.	5.05	5.05	0.67936	.	0.252838	0.39834	N	0.001256	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.3179	8.8488	0.35188	0.1054:0.0:0.8945:0.0	.	.	.	.	X	376;421	.	ENSP00000361927:G421X	G	+	1	0	HNRNPH2	100554893	0.758000	0.28405	0.994000	0.49952	0.986000	0.74619	1.780000	0.38634	2.226000	0.72624	0.513000	0.50165	GGA		0.493	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		103	99	1	0	2.70572e-37	1	2.91105e-37	103	99				
TCEAL6	158931	broad.mit.edu	37	X	101396021	101396021	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:101396021G>A	ENST00000372774.3	-	3	532	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	TCEAL6_ENST00000372773.1_Missense_Mutation_p.R95W	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R95W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TCGGCGGCCCGCGGCTGGCCC	0.612																																						ENST00000372774.3																			1	Substitution - Missense(1)	p.R95W(1)	endometrium(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(283-285)Cgg>Tgg		transcription elongation factor A (SII)-like 6							78.0	85.0	83.0					X																	101396021		2203	4300	6503	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396021G>A	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.283C>T	X.37:g.101396021G>A	ENSP00000361860:p.Arg95Trp					TCEAL6_ENST00000372773.1_Missense_Mutation_p.R95W	p.R95W	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	532	-			95					Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.283C>T	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651966	0.29336	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.27104	1.69;1.69	2.43	-0.543	0.11851	.	0.000000	0.33057	N	0.005325	T	0.18087	0.0434	M	0.71581	2.175	0.09310	N	1	B	0.33448	0.412	B	0.23018	0.043	T	0.21621	-1.0240	10	0.87932	D	0	.	1.0618	0.01602	0.1352:0.1897:0.2882:0.3869	.	95	Q6IPX3-2	.	W	95	ENSP00000361860:R95W;ENSP00000361859:R95W	ENSP00000361859:R95W	R	-	1	2	TCEAL6	101282677	0.000000	0.05858	0.002000	0.10522	0.303000	0.27691	-0.393000	0.07305	-0.269000	0.09298	0.468000	0.43344	CGG		0.612	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		41	62	0	0	0	1	0	41	62				
HOXC6	3223	broad.mit.edu	37	12	54422624	54422624	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:54422624G>A	ENST00000243108.4	+	1	483	c.319G>A	c.(319-321)Gag>Aag	p.E107K	HOXC6_ENST00000394331.3_Missense_Mutation_p.E25K|RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	107					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTAGTTCTGAGCAGGGCAG	0.478																																						ENST00000394331.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(73-75)Gag>Aag		homeobox C6							117.0	117.0	117.0					12																	54422624		2203	4300	6503	SO:0001583	missense	3223				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:54422624G>A		CCDS8871.1, CCDS41792.1	12q13.13	2011-06-20	2005-12-22		ENSG00000197757	ENSG00000197757		"""Homeoboxes / ANTP class : HOXL subclass"""	5128	protein-coding gene	gene with protein product		142972	"""homeo box C6"""	HOX3C, HOX3		1973146, 1358459	Standard	NM_153693		Approved		uc001sev.3	P09630	OTTHUMG00000160027	ENST00000243108.4:c.319G>A	12.37:g.54422624G>A	ENSP00000243108:p.Glu107Lys					HOXC4_ENST00000303406.4_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.E107K|HOXC5_ENST00000512206.1_Intron	p.E25K	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN			2	1783	+			107					B2RBV2|Q6DK09	Missense_Mutation	SNP	ENST00000243108.4	37	c.73G>A	CCDS8871.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352885	0.82132	.	.	ENSG00000197757	ENST00000504315;ENST00000509328;ENST00000394331;ENST00000243108	D;D	0.92545	-3.06;-3.04	5.65	5.65	0.86999	.	0.049140	0.85682	D	0.000000	D	0.89674	0.6783	L	0.54323	1.7	0.80722	D	1	B	0.15473	0.013	B	0.12837	0.008	D	0.84623	0.0685	10	0.13108	T	0.6	.	18.6545	0.91445	0.0:0.0:1.0:0.0	.	107	P09630	HXC6_HUMAN	K	25;25;25;107	ENSP00000377864:E25K;ENSP00000243108:E107K	ENSP00000243108:E107K	E	+	1	0	HOXC6	52708891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.417000	0.80156	2.941000	0.99782	0.655000	0.94253	GAG		0.478	HOXC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358943.2			35	118	0	0	0	1	0	35	118				
FAM151A	338094	broad.mit.edu	37	1	55075609	55075609	+	Missense_Mutation	SNP	C	C	G	rs370322968		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:55075609C>G	ENST00000302250.2	-	8	1250	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	364						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATCATGCCTTCTGTGTCTGGA	0.522																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(1090-1092)Gaa>Caa		family with sequence similarity 151, member A							32.0	34.0	33.0					1																	55075609		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55075609C>G	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.1090G>C	1.37:g.55075609C>G	ENSP00000306888:p.Glu364Gln					ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000481208.1_3'UTR	p.E364Q	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			8	1250	-			364					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.1090G>C	CCDS594.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081398	0.36758	.	.	ENSG00000162391	ENST00000302250	T	0.10668	2.85	4.28	4.28	0.50868	.	0.446857	0.22125	N	0.064264	T	0.26011	0.0634	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	T	0.00498	-1.1704	10	0.23891	T	0.37	-7.6829	12.5289	0.56102	0.0:1.0:0.0:0.0	.	364	Q8WW52	F151A_HUMAN	Q	364	ENSP00000306888:E364Q	ENSP00000306888:E364Q	E	-	1	0	FAM151A	54848197	0.730000	0.28100	0.965000	0.40720	0.289000	0.27227	1.383000	0.34385	2.666000	0.90696	0.655000	0.94253	GAA		0.522	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		14	35	0	0	0	1	0	14	35				
MMP13	4322	broad.mit.edu	37	11	102826070	102826070	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:102826070C>G	ENST00000260302.3	-	2	301	c.273G>C	c.(271-273)atG>atC	p.M91I	MMP13_ENST00000340273.4_Missense_Mutation_p.M91I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	91			M -> T (in MANDP1). {ECO:0000269|PubMed:19615667}.		bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TTGGCTTTTTCATGACATCTA	0.433																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(271-273)atG>atC		matrix metallopeptidase 13 (collagenase 3)							135.0	132.0	133.0					11																	102826070		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826070C>G	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.273G>C	11.37:g.102826070C>G	ENSP00000260302:p.Met91Ile					MMP13_ENST00000340273.4_Missense_Mutation_p.M91I	p.M91I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	301	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	91		M -> T (in MANDP1).			A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.273G>C	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595102	0.86953	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.44482	0.92;0.92	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.034007	0.85682	N	0.000000	T	0.65048	0.2654	M	0.75777	2.31	0.80722	D	1	D	0.56746	0.977	P	0.61722	0.893	T	0.65199	-0.6226	10	0.62326	D	0.03	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	91	P45452	MMP13_HUMAN	I	91	ENSP00000260302:M91I;ENSP00000339672:M91I	ENSP00000260302:M91I	M	-	3	0	MMP13	102331280	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	ATG		0.433	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		49	113	0	0	0	1	0	49	113				
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29230615	29230615	+	lincRNA	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:29230615G>A	ENST00000441381.1	+	0	79																											ATACCACAATGAGATGGGAGA	0.413																																						ENST00000441381.1																			0																				113.0	98.0	103.0					6																	29230615		1906	4132	6038			0							g.chr6:29230615G>A																													6.37:g.29230615G>A														0	79	+									RNA	SNP	ENST00000441381.1	37																																																																																						0.413	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192829.1			25	95	0	0	0	1	0	25	95				
CASC5	57082	broad.mit.edu	37	15	40914270	40914270	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40914270C>G	ENST00000346991.5	+	11	2276	c.1886C>G	c.(1885-1887)tCt>tGt	p.S629C	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.S603C			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	629	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S629F(2)|p.S629C(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAATCTCACTCTCAGAGCAAA	0.398																																						ENST00000346991.5																			4	Substitution - Missense(4)	p.S629F(2)|p.S629C(2)	lung(2)|endometrium(2)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1885-1887)tCt>tGt		cancer susceptibility candidate 5							51.0	48.0	49.0					15																	40914270		1869	4108	5977	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40914270C>G	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1886C>G	15.37:g.40914270C>G	ENSP00000335463:p.Ser629Cys					CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.S603C	p.S629C			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	2276	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	629			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.1886C>G	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273066	0.23221	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.20881	2.04;2.04	4.84	4.84	0.62591	.	0.292228	0.24876	N	0.034889	T	0.37183	0.0994	M	0.63843	1.955	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.69479	0.964;0.948;0.948	T	0.20075	-1.0286	10	0.51188	T	0.08	.	6.9766	0.24679	0.0:0.8518:0.0:0.1482	.	603;629;603	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	C	629;603;603	ENSP00000335463:S629C;ENSP00000382576:S603C	ENSP00000260369:S603C	S	+	2	0	CASC5	38701562	0.000000	0.05858	0.460000	0.27093	0.076000	0.17211	-0.414000	0.07114	2.517000	0.84864	0.557000	0.71058	TCT		0.398	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		21	59	0	0	0	1	0	21	59				
ABCA4	24	broad.mit.edu	37	1	94506902	94506902	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:94506902G>T	ENST00000370225.3	-	23	3471	c.3385C>A	c.(3385-3387)Cgc>Agc	p.R1129S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1129	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> C (in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine). {ECO:0000269|PubMed:11384574}.|R -> L (in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity; dbSNP:rs1801269). {ECO:0000269|PubMed:18977788, ECO:0000269|PubMed:19028736}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ATGGCAATGCGGTCCCCAAGG	0.582																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM970010	ABCA4	M		c.(3385-3387)Cgc>Agc		ATP-binding cassette, sub-family A (ABC1), member 4							130.0	112.0	118.0					1																	94506902		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94506902G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3385C>A	1.37:g.94506902G>T	ENSP00000359245:p.Arg1129Ser						p.R1129S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	23	3471	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1129		R -> C (in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine).|R -> L (in ARMD2, STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs1801269).	ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.3385C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774664	0.70107	.	.	ENSG00000198691	ENST00000370225	T	0.74842	-0.88	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.049563	0.85682	D	0.000000	D	0.83640	0.5298	M	0.80847	2.515	0.80722	D	1	D	0.65815	0.995	D	0.72338	0.977	D	0.85392	0.1126	10	0.87932	D	0	.	13.8276	0.63359	0.0:0.0:0.7468:0.2532	.	1129	P78363	ABCA4_HUMAN	S	1129	ENSP00000359245:R1129S	ENSP00000359245:R1129S	R	-	1	0	ABCA4	94279490	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.523000	0.45580	2.760000	0.94817	0.655000	0.94253	CGC		0.582	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		11	72	1	0	1.08611e-07	1	1.12184e-07	11	72				
SLC39A6	25800	broad.mit.edu	37	18	33706814	33706814	+	Missense_Mutation	SNP	G	G	A	rs199955982		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:33706814G>A	ENST00000590986.1	-	2	446	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000269187.5_Missense_Mutation_p.R53W			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	53					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TGATATTGCCGTGTGGAAATT	0.388													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20185	0.0		0.0	False		,,,				2504	0.0					ENST00000269187.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						c.(157-159)Cgg>Tgg		solute carrier family 39 (zinc transporter), member 6							137.0	128.0	131.0					18																	33706814		1858	4092	5950	SO:0001583	missense	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33706814G>A	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.157C>T	18.37:g.33706814G>A	ENSP00000465915:p.Arg53Trp					SLC39A6_ENST00000590986.1_Missense_Mutation_p.R53W|SLC39A6_ENST00000440549.2_Intron	p.R53W	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN			2	370	-			53					B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	ENST00000590986.1	37	c.157C>T	CCDS42428.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.92	2.082026	0.36758	.	.	ENSG00000141424	ENST00000269187	T	0.24350	1.86	5.57	5.57	0.84162	.	0.463064	0.23826	N	0.044182	T	0.18593	0.0446	N	0.22421	0.69	0.80722	D	1	P	0.48834	0.916	B	0.36666	0.23	T	0.03597	-1.1021	10	0.87932	D	0	0.0277	17.0341	0.86470	0.0:0.0:1.0:0.0	.	53	Q13433	S39A6_HUMAN	W	53	ENSP00000269187:R53W	ENSP00000269187:R53W	R	-	1	2	SLC39A6	31960812	1.000000	0.71417	0.215000	0.23724	0.369000	0.29798	7.159000	0.77483	2.623000	0.88846	0.561000	0.74099	CGG		0.388	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			15	210	0	0	0	1	0	15	210				
REV3L	5980	broad.mit.edu	37	6	111689121	111689121	+	Missense_Mutation	SNP	G	G	A	rs373760586		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:111689121G>A	ENST00000358835.3	-	15	6324	c.5870C>T	c.(5869-5871)tCa>tTa	p.S1957L	REV3L_ENST00000435970.1_Missense_Mutation_p.S1879L|REV3L_ENST00000368802.3_Missense_Mutation_p.S1957L|REV3L_ENST00000368805.1_Missense_Mutation_p.S1957L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1957					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGTCATTGCTGAGAATGCTGT	0.473								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5635-5637)tCa>tTa	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit		G	LEU/SER	0,4406		0,0,2203	85.0	82.0	83.0		5870	5.7	1.0	6		83	2,8598	2.2+/-6.3	0,2,4298	no	missense	REV3L	NM_002912.3	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1957/3131	111689121	2,13004	2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111689121G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5870C>T	6.37:g.111689121G>A	ENSP00000351697:p.Ser1957Leu					REV3L_ENST00000358835.3_Missense_Mutation_p.S1957L|REV3L_ENST00000368802.3_Missense_Mutation_p.S1957L|REV3L_ENST00000368805.1_Missense_Mutation_p.S1957L	p.S1879L			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	16	6452	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1957			Mediates interaction with MAD2L2.		O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5636C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055513	0.55325	0.0	2.33E-4	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.65	5.65	0.86999	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000002	T	0.32224	0.0822	L	0.45581	1.43	0.47341	D	0.999398	B	0.30664	0.289	B	0.23716	0.048	T	0.18745	-1.0327	10	0.45353	T	0.12	-5.9604	14.29	0.66270	0.071:0.0:0.929:0.0	.	1957	O60673	DPOLZ_HUMAN	L	1957;1957;1957;1879;30	ENSP00000357792:S1957L;ENSP00000357795:S1957L;ENSP00000351697:S1957L;ENSP00000402003:S1879L	ENSP00000351697:S1957L	S	-	2	0	REV3L	111795814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.041000	0.70988	2.824000	0.97209	0.655000	0.94253	TCA		0.473	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		31	118	0	0	0	1	0	31	118				
VPS13D	55187	broad.mit.edu	37	1	12381972	12381972	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:12381972C>T	ENST00000358136.3	+	33	7785	c.7655C>T	c.(7654-7656)tCa>tTa	p.S2552L	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2552L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAAATAGTTCAGGATTGATG	0.413																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7654-7656)tCa>tTa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							123.0	112.0	116.0					1																	12381972		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12381972C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7655C>T	1.37:g.12381972C>T	ENSP00000350854:p.Ser2552Leu					VPS13D_ENST00000356315.4_Missense_Mutation_p.S2552L	p.S2552L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	33	7785	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2552						Missense_Mutation	SNP	ENST00000358136.3	37	c.7655C>T	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.609572|4.609572	0.87258|0.87258	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.55052	.|0.54;0.56	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.68201	.|0.2975	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.76494	.|0.999;0.794;0.844	.|D;B;B	.|0.78314	.|0.991;0.31;0.313	.|T	.|0.64330	.|-0.6433	.|10	.|0.34782	.|T	.|0.22	.|.	19.2503|19.2503	0.93921|0.93921	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|459;2552;2552	.|B1AJZ2;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	X|L	1375|2552	.|ENSP00000348666:S2552L;ENSP00000350854:S2552L	.|ENSP00000348666:S2552L	Q|S	+|+	1|2	0|0	VPS13D|VPS13D	12304559|12304559	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.990000|0.990000	0.78478|0.78478	7.484000|7.484000	0.81180|0.81180	2.541000|2.541000	0.85698|0.85698	0.491000|0.491000	0.48974|0.48974	CAG|TCA		0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		27	105	0	0	0	1	0	27	105				
SMARCA4	6597	broad.mit.edu	37	19	11144825	11144825	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:11144825G>C	ENST00000429416.3	+	29	4181	c.3900G>C	c.(3898-3900)gaG>gaC	p.E1300D	SMARCA4_ENST00000358026.2_Missense_Mutation_p.E1300D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1267D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1267D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1267D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1300D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1300					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGACGACGAGACCGTCAACC	0.632			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3898-3900)gaG>gaC		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							125.0	104.0	112.0					19																	11144825		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144825G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3900G>C	19.37:g.11144825G>C	ENSP00000395654:p.Glu1300Asp					SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1300D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1300D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1267D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1267D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1267D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1267D	p.E1300D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			28	4184	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1300					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3900G>C	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.52|13.52	2.261917|2.261917	0.39995|0.39995	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000538456|ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.|D;D;D;D;D;D;D	.|0.96011	.|-2.31;-2.27;-2.31;-3.88;-3.88;-3.88;-3.88	4.64|4.64	1.12|1.12	0.20585|0.20585	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94840|0.94840	0.8333|0.8333	L|L	0.35723|0.35723	1.085|1.085	0.45914|0.45914	D|D	0.998758|0.998758	.|P;P;P;P;D;B;P	.|0.71674	.|0.772;0.55;0.55;0.772;0.998;0.011;0.772	.|P;B;B;P;D;B;P	.|0.79108	.|0.541;0.348;0.348;0.51;0.992;0.013;0.561	D|D	0.92179|0.92179	0.5750|0.5750	5|10	.|0.44086	.|T	.|0.13	-46.6631|-46.6631	8.2224|8.2224	0.31549|0.31549	0.3724:0.0:0.6276:0.0|0.3724:0.0:0.6276:0.0	.|.	.|1267;1267;1267;1300;1267;487;1300	.|B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.|.;.;.;.;.;.;SMCA4_HUMAN	H|D	37|1300;1300;1331;1300;1267;1267;1267;1267	.|ENSP00000395654:E1300D;ENSP00000350720:E1300D;ENSP00000343896:E1300D;ENSP00000445036:E1267D;ENSP00000392837:E1267D;ENSP00000397783:E1267D;ENSP00000414727:E1267D	.|ENSP00000343896:E1300D	D|E	+|+	1|3	0|2	SMARCA4|SMARCA4	11005825|11005825	0.967000|0.967000	0.33354|0.33354	0.990000|0.990000	0.47175|0.47175	0.950000|0.950000	0.60333|0.60333	0.042000|0.042000	0.13949|0.13949	0.502000|0.502000	0.28037|0.28037	0.462000|0.462000	0.41574|0.41574	GAC|GAG		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		25	79	0	0	0	1	0	25	79				
DEPDC5	9681	broad.mit.edu	37	22	32239777	32239777	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:32239777C>G	ENST00000382112.3	+	28	2823	c.2753C>G	c.(2752-2754)tCt>tGt	p.S918C	DEPDC5_ENST00000400246.1_Missense_Mutation_p.S927C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S849C|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S918C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S927C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S918C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S927C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S849C	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	927					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TATATCTGTTCTGCCGGCTCT	0.483																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2779-2781)tCt>tGt		DEP domain containing 5							61.0	59.0	60.0					22																	32239777		1880	4088	5968	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32239777C>G	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2753C>G	22.37:g.32239777C>G	ENSP00000371546:p.Ser918Cys					DEPDC5_ENST00000382112.3_Missense_Mutation_p.S918C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S927C|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S849C|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S918C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S849C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S918C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S927C	p.S927C			O75140	DEPD5_HUMAN			29	2922	+			918					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2780C>G	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.841206|4.841206	0.91197|0.91197	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T	.|0.34072	.|1.42;1.85;1.85;1.83;1.38;1.84;1.83;1.85	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57577|0.57577	0.2063|0.2063	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.87578	.|0.987;0.998;0.997;0.998;0.983;0.997	T|T	0.55218|0.55218	-0.8175|-0.8175	5|10	.|0.66056	.|D	.|0.02	.|.	19.3129|19.3129	0.94198|0.94198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|248;927;849;927;918;918	.|B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	L|C	324|849;927;918;849;927;849;918;927;918	.|ENSP00000440210:S849C;ENSP00000266091:S927C;ENSP00000383108:S918C;ENSP00000383105:S927C;ENSP00000371539:S849C;ENSP00000371546:S918C;ENSP00000371545:S927C;ENSP00000383107:S918C	.|ENSP00000266091:S927C	F|S	+|+	3|2	2|0	DEPDC5|DEPDC5	30569777|30569777	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.872000|0.872000	0.50106|0.50106	6.983000|6.983000	0.76180|0.76180	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.483	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		15	41	0	0	0	1	0	15	41				
ADAM21	8747	broad.mit.edu	37	14	70925333	70925333	+	Missense_Mutation	SNP	G	G	C	rs144766277		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:70925333G>C	ENST00000603540.1	+	2	1375	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	ADAM21_ENST00000267499.3_Missense_Mutation_p.E373Q|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGTGCCAGCAGAGAAATTCAC	0.418																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(1117-1119)Gag>Cag		ADAM metallopeptidase domain 21		G	GLN/GLU	0,4382		0,0,2191	36.0	34.0	35.0		1117	2.7	1.0	14	dbSNP_134	35	1,8585		0,1,4292	no	missense	ADAM21	NM_003813.3	29	0,1,6483	CC,CG,GG		0.0116,0.0,0.0077	benign	373/723	70925333	1,12967	2191	4293	6484	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925333G>C	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1117G>C	14.37:g.70925333G>C	ENSP00000474385:p.Glu373Gln					RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.E373Q	p.E373Q	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1375	+			373			Peptidase M12B.		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.1117G>C	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	2.242	-0.373484	0.05034	0.0	1.16E-4	ENSG00000139985	ENST00000267499	T	0.09350	2.99	3.62	2.65	0.31530	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.347798	0.20108	U	0.099070	T	0.06188	0.0160	N	0.16862	0.45	0.29719	N	0.838763	B	0.12630	0.006	B	0.22152	0.038	T	0.32877	-0.9890	10	0.14252	T	0.57	.	8.9986	0.36068	0.1219:0.0:0.8781:0.0	.	373	Q9UKJ8	ADA21_HUMAN	Q	373	ENSP00000267499:E373Q	ENSP00000267499:E373Q	E	+	1	0	ADAM21	69995086	0.005000	0.15991	0.959000	0.39883	0.624000	0.37722	0.619000	0.24388	0.994000	0.38892	0.557000	0.71058	GAG		0.418	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			30	67	0	0	0	1	0	30	67				
BAZ1B	9031	broad.mit.edu	37	7	72863971	72863971	+	Missense_Mutation	SNP	T	T	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:72863971T>A	ENST00000339594.4	-	15	3967	c.3629A>T	c.(3628-3630)cAc>cTc	p.H1210L	BAZ1B_ENST00000404251.1_Missense_Mutation_p.H1210L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1210					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACAAAACAGGTGGAAGGCTTT	0.522																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(3628-3630)cAc>cTc		bromodomain adjacent to zinc finger domain, 1B							101.0	92.0	95.0					7																	72863971		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72863971T>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.3629A>T	7.37:g.72863971T>A	ENSP00000342434:p.His1210Leu					BAZ1B_ENST00000404251.1_Missense_Mutation_p.H1210L	p.H1210L	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			15	3967	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1210					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.3629A>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.882677	0.91740	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	D;D	0.99005	-5.32;-5.32	5.75	5.75	0.90469	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97722	1.0197	10	0.87932	D	0	-19.3817	15.2361	0.73432	0.0:0.0:0.0:1.0	.	1210	Q9UIG0	BAZ1B_HUMAN	L	1210	ENSP00000342434:H1210L;ENSP00000385442:H1210L	ENSP00000342434:H1210L	H	-	2	0	BAZ1B	72501907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.377000	0.79668	2.192000	0.70111	0.459000	0.35465	CAC		0.522	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		19	57	0	0	0	1	0	19	57				
CD163L1	283316	broad.mit.edu	37	12	7519883	7519883	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7519883C>T	ENST00000313599.3	-	18	4285	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K	CD163L1_ENST00000416109.2_Missense_Mutation_p.E1420K|CD163L1_ENST00000396630.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1410						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E1410K(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCTCCATCTCATGGAATAAA	0.488																																						ENST00000313599.3																			1	Substitution - Missense(1)	p.E1410K(1)	lung(1)	breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(4228-4230)Gag>Aag		CD163 molecule-like 1							74.0	66.0	69.0					12																	7519883		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7519883C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4228G>A	12.37:g.7519883C>T	ENSP00000315945:p.Glu1410Lys					CD163L1_ENST00000396630.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.E1420K	p.E1410K			Q9NR16	C163B_HUMAN			18	4285	-			1410					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.4228G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611360	0.28712	.	.	ENSG00000177675	ENST00000313599;ENST00000416109	T;T	0.01887	4.58;4.58	1.93	1.93	0.25924	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.21652	N	0.999604	D;D	0.69078	0.985;0.997	B;D	0.73380	0.437;0.98	T	0.52102	-0.8620	9	0.51188	T	0.08	.	7.7937	0.29135	0.0:1.0:0.0:0.0	.	1420;1410	E7EVK4;Q9NR16	.;C163B_HUMAN	K	1410;1420	ENSP00000315945:E1410K;ENSP00000393474:E1420K	ENSP00000315945:E1410K	E	-	1	0	CD163L1	7411150	0.071000	0.21146	0.018000	0.16275	0.013000	0.08279	0.337000	0.19841	0.996000	0.38943	0.555000	0.69702	GAG		0.488	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		30	111	0	0	0	1	0	30	111				
HPS3	84343	broad.mit.edu	37	3	148857940	148857940	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:148857940G>A	ENST00000296051.2	+	2	507	c.367G>A	c.(367-369)Gac>Aac	p.D123N	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	123					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCCTTCAGAGACCAGATGTA	0.453									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(367-369)Gac>Aac		Hermansky-Pudlak syndrome 3							146.0	145.0	145.0					3																	148857940		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148857940G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.367G>A	3.37:g.148857940G>A	ENSP00000296051:p.Asp123Asn					HPS3_ENST00000460120.1_Intron	p.D123N	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		2	507	+			123					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.367G>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962523	0.74016	.	.	ENSG00000163755	ENST00000296051	T	0.62788	0.0	5.67	5.67	0.87782	.	0.175899	0.50627	D	0.000107	T	0.77974	0.4211	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	P	0.62491	0.903	T	0.77940	-0.2399	10	0.56958	D	0.05	-29.7276	20.1204	0.97958	0.0:0.0:1.0:0.0	.	123	Q969F9	HPS3_HUMAN	N	123	ENSP00000296051:D123N	ENSP00000296051:D123N	D	+	1	0	HPS3	150340630	1.000000	0.71417	0.970000	0.41538	0.671000	0.39405	6.772000	0.75001	2.832000	0.97577	0.585000	0.79938	GAC		0.453	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		47	174	0	0	0	1	0	47	174				
ZMPSTE24	10269	broad.mit.edu	37	1	40723960	40723960	+	Missense_Mutation	SNP	C	C	T	rs373684692		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:40723960C>T	ENST00000372759.3	+	1	182	c.17C>T	c.(16-18)tCg>tTg	p.S6L	RP1-39G22.7_ENST00000567508.1_RNA|ZMPSTE24_ENST00000479131.1_3'UTR	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	6					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)	p.S6W(1)|p.S6L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATGTGGGCATCGCTGGACGCT	0.632																																						ENST00000372759.3																			2	Substitution - Missense(2)	p.S6W(1)|p.S6L(1)	lung(2)	endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16						c.(16-18)tCg>tTg		zinc metallopeptidase STE24		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	108.0	97.0	101.0		17	3.5	1.0	1		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZMPSTE24	NM_005857.3	145	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	6/476	40723960	2,13004	2203	4300	6503	SO:0001583	missense	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40723960C>T	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.17C>T	1.37:g.40723960C>T	ENSP00000361845:p.Ser6Leu					ZMPSTE24_ENST00000479131.1_3'UTR	p.S6L	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	182	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	c.17C>T	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280236	0.59758	2.27E-4	1.16E-4	ENSG00000084073	ENST00000372759	T	0.00976	5.48	5.44	3.5	0.40072	.	0.169960	0.48286	N	0.000181	T	0.00580	0.0019	N	0.08118	0	0.28029	N	0.9342	B	0.02656	0.0	B	0.04013	0.001	T	0.44498	-0.9324	10	0.25106	T	0.35	-0.0695	4.3055	0.10944	0.1757:0.6072:0.0:0.217	.	6	O75844	FACE1_HUMAN	L	6	ENSP00000361845:S6L	ENSP00000361845:S6L	S	+	2	0	ZMPSTE24	40496547	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.587000	0.23909	1.306000	0.44926	0.655000	0.94253	TCG		0.632	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			26	89	0	0	0	1	0	26	89				
FAM90A1	55138	broad.mit.edu	37	12	8375060	8375060	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:8375060G>A	ENST00000538603.1	-	7	1311	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FAM90A1_ENST00000307435.6_Silent_p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	251							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGACGGCCTGGAGCAGGCCGT	0.662																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(751-753)ctC>ctT		family with sequence similarity 90, member A1							29.0	47.0	41.0					12																	8375060		2105	4176	6281	SO:0001819	synonymous_variant	55138						nucleic acid binding|zinc ion binding	g.chr12:8375060G>A	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.753C>T	12.37:g.8375060G>A						FAM90A1_ENST00000307435.6_Silent_p.L251L	p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1311	-			251					D3DUU9|Q9NVZ6	Silent	SNP	ENST00000538603.1	37	c.753C>T	CCDS31738.1																																																																																				0.662	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		4	101	0	0	0	1	0	4	101				
KIAA1467	57613	broad.mit.edu	37	12	13221288	13221288	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:13221288G>T	ENST00000197268.8	+	8	1313	c.1193G>T	c.(1192-1194)aGc>aTc	p.S398I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	398						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCCAACTGCAGCAACCTTCTG	0.493																																						ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(1192-1194)aGc>aTc		KIAA1467							136.0	116.0	123.0					12																	13221288		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13221288G>T	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1193G>T	12.37:g.13221288G>T	ENSP00000197268:p.Ser398Ile						p.S398I	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	8	1313	+		Prostate(47;0.184)	398					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.1193G>T	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627860	0.87560	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.42131	0.98	5.42	5.42	0.78866	.	0.130494	0.64402	D	0.000001	T	0.65165	0.2665	M	0.72118	2.19	0.46927	D	0.999254	D	0.89917	1.0	D	0.91635	0.999	T	0.67241	-0.5720	10	0.62326	D	0.03	-18.9525	17.4053	0.87472	0.0:0.0:1.0:0.0	.	398	A2RU67	K1467_HUMAN	I	398;174	ENSP00000197268:S398I	ENSP00000197268:S398I	S	+	2	0	KIAA1467	13112555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.337000	0.72958	2.532000	0.85374	0.655000	0.94253	AGC		0.493	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		30	89	1	0	2.47511e-08	1	2.56257e-08	30	89				
PDIA5	10954	broad.mit.edu	37	3	122842924	122842924	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:122842924G>A	ENST00000316218.7	+	9	716	c.621G>A	c.(619-621)ggG>ggA	p.G207G		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	207	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGCTGGCCGGGATGAATGTCT	0.572																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(619-621)ggG>ggA		protein disulfide isomerase family A, member 5							52.0	50.0	50.0					3																	122842924		2203	4300	6503	SO:0001819	synonymous_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122842924G>A	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.621G>A	3.37:g.122842924G>A							p.G207G	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	9	716	+			207			Thioredoxin 1.		D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	c.621G>A	CCDS3020.1																																																																																				0.572	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		8	46	0	0	0	1	0	8	46				
SORCS1	114815	broad.mit.edu	37	10	108339186	108339186	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:108339186C>T	ENST00000263054.6	-	25	3319	c.3312G>A	c.(3310-3312)ctG>ctA	p.L1104L	SORCS1_ENST00000369698.1_Silent_p.L639L|SORCS1_ENST00000344440.6_Silent_p.L1104L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1104					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)		AGAGCAGCATCAGCATGGCAG	0.557																																						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.(3310-3312)ctG>ctA		sortilin-related VPS10 domain containing receptor 1							126.0	93.0	104.0					10																	108339186		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108339186C>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.3312G>A	10.37:g.108339186C>T						SORCS1_ENST00000369698.1_Silent_p.L639L|SORCS1_ENST00000344440.6_Silent_p.L1104L	p.L1104L	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)	25	3319	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1104					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.3312G>A	CCDS7559.1																																																																																				0.557	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		14	40	0	0	0	1	0	14	40				
ZNF709	163051	broad.mit.edu	37	19	12575067	12575067	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12575067C>T	ENST00000397732.3	-	4	1840	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E557K	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	557					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)|upper_aerodigestive_tract(3)	6						TAAGGTTTCTCTCCAGTGTGA	0.428																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1669-1671)Gag>Aag		zinc finger protein 709							142.0	150.0	147.0					19																	12575067		2203	4300	6503	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575067C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1669G>A	19.37:g.12575067C>T	ENSP00000380840:p.Glu557Lys					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E557K	p.E557K	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1840	-			557					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1669G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320764	0.95682	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.24350	1.86;1.86	2.91	2.91	0.33838	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25344	0.0616	M	0.72576	2.205	0.29114	N	0.880707	P	0.39624	0.681	B	0.32677	0.15	T	0.24512	-1.0158	9	0.59425	D	0.04	.	9.6393	0.39828	0.2091:0.7909:0.0:0.0	.	557	Q8N972	ZN709_HUMAN	K	557	ENSP00000380840:E557K;ENSP00000404127:E557K	ENSP00000404127:E557K	E	-	1	0	ZNF709;CTD-2192J16.17	12436067	0.947000	0.32204	0.294000	0.24946	0.995000	0.86356	2.184000	0.42575	1.969000	0.57287	0.585000	0.79938	GAG		0.428	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		47	254	0	0	0	1	0	47	254				
PKHD1	5314	broad.mit.edu	37	6	51777273	51777273	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:51777273C>T	ENST00000371117.3	-	38	6498	c.6223G>A	c.(6223-6225)Gaa>Aaa	p.E2075K	PKHD1_ENST00000340994.4_Missense_Mutation_p.E2075K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2075					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)					ATGACAACTTCATCCCCAGGG	0.473																																						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.(6223-6225)Gaa>Aaa		polycystic kidney and hepatic disease 1 (autosomal recessive)							177.0	161.0	167.0					6																	51777273		2203	4300	6503	SO:0001583	missense	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.chr6:51777273C>T	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.6223G>A	6.37:g.51777273C>T	ENSP00000360158:p.Glu2075Lys					PKHD1_ENST00000340994.4_Missense_Mutation_p.E2075K	p.E2075K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			38	6498	-	Lung NSC(77;0.0605)		2075					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6223G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797264	0.70567	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92495	-3.05;-3.05	5.99	5.12	0.69794	.	0.316014	0.30704	N	0.009053	D	0.84844	0.5562	L	0.52364	1.645	0.32124	N	0.587659	P;P;P	0.49862	0.825;0.909;0.929	B;B;B	0.43623	0.207;0.425;0.386	T	0.83005	-0.0175	10	0.36615	T	0.2	.	10.1555	0.42820	0.0:0.9119:0.0:0.0881	.	2075;2075;2075	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	K	2075	ENSP00000360158:E2075K;ENSP00000341097:E2075K	ENSP00000341097:E2075K	E	-	1	0	PKHD1	51885232	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.673000	0.46858	2.847000	0.97988	0.655000	0.94253	GAA		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		40	89	0	0	0	1	0	40	89				
LRRC7	57554	broad.mit.edu	37	1	70587515	70587515	+	Missense_Mutation	SNP	T	T	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:70587515T>G	ENST00000035383.5	+	25	4589	c.4559T>G	c.(4558-4560)cTg>cGg	p.L1520R	LRRC7_ENST00000310961.5_Missense_Mutation_p.L1478R|LRRC7_ENST00000415775.2_Missense_Mutation_p.L804R	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1520	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					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						GTATTACTACTGAAGAGTTTC	0.333																																						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.(4432-4434)cTg>cGg		leucine rich repeat containing 7							112.0	116.0	115.0					1																	70587515		2203	4298	6501	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70587515T>G		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.4559T>G	1.37:g.70587515T>G	ENSP00000035383:p.Leu1520Arg					LRRC7_ENST00000415775.2_Missense_Mutation_p.L804R|LRRC7_ENST00000035383.5_Missense_Mutation_p.L1520R	p.L1478R			Q96NW7	LRRC7_HUMAN			27	4851	+			1520			PDZ.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.4433T>G	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.280988	0.59758	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.33865	1.39;1.39;1.39	5.26	5.26	0.73747	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000005	T	0.67230	0.2871	H	0.95850	3.73	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.997;0.998	T	0.79603	-0.1735	10	0.87932	D	0	.	15.4676	0.75412	0.0:0.0:0.0:1.0	.	804;1473;1520	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	R	1478;1520;804;1296	ENSP00000309245:L1478R;ENSP00000035383:L1520R;ENSP00000394867:L804R	ENSP00000035383:L1520R	L	+	2	0	LRRC7	70360103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.986000	0.76200	2.119000	0.64992	0.533000	0.62120	CTG		0.333	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		26	96	0	0	0	1	0	26	96				
FNBP4	23360	broad.mit.edu	37	11	47752952	47752952	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:47752952G>A	ENST00000263773.5	-	12	1994	c.1982C>T	c.(1981-1983)tCa>tTa	p.S661L	FNBP4_ENST00000534003.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	661						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GGATTCTGTTGAATTTGAATC	0.353																																						ENST00000263773.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(1981-1983)tCa>tTa		formin binding protein 4							183.0	176.0	179.0					11																	47752952		1828	4088	5916	SO:0001583	missense	23360							g.chr11:47752952G>A	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1982C>T	11.37:g.47752952G>A	ENSP00000263773:p.Ser661Leu						p.S661L	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			12	1994	-			661					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1982C>T	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956123	0.53293	.	.	ENSG00000109920	ENST00000263773	T	0.10763	2.84	5.91	4.98	0.66077	.	0.732468	0.13956	N	0.351148	T	0.13200	0.0320	L	0.54323	1.7	0.40517	D	0.980796	P	0.38922	0.651	B	0.32864	0.154	T	0.04333	-1.0959	10	0.72032	D	0.01	-5.3	15.1441	0.72637	0.0:0.0:0.8573:0.1427	.	661	Q8N3X1	FNBP4_HUMAN	L	661	ENSP00000263773:S661L	ENSP00000263773:S661L	S	-	2	0	FNBP4	47709528	0.990000	0.36364	0.986000	0.45419	0.948000	0.59901	3.724000	0.54962	1.463000	0.47967	0.655000	0.94253	TCA		0.353	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			39	117	0	0	0	1	0	39	117				
ICE1	23379	broad.mit.edu	37	5	5463612	5463612	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:5463612G>A	ENST00000296564.7	+	13	4387	c.4165G>A	c.(4165-4167)Gag>Aag	p.E1389K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1389					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCTAACTGCGAGGCCGAAAC	0.458																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4165-4167)Gag>Aag		KIAA0947							31.0	32.0	32.0					5																	5463612		1996	4168	6164	SO:0001583	missense	23379							g.chr5:5463612G>A																												ENST00000296564.7:c.4165G>A	5.37:g.5463612G>A	ENSP00000296564:p.Glu1389Lys						p.E1389K	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	4387	+			1389					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.4165G>A	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	9.958	1.222107	0.22457	.	.	ENSG00000164151	ENST00000296564	T	0.09911	2.93	4.64	2.57	0.30868	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	P	0.50443	0.935	B	0.33339	0.162	T	0.11817	-1.0572	9	0.05833	T	0.94	0.335	4.6712	0.12691	0.1188:0.0:0.6137:0.2675	.	1389	Q9Y2F5	K0947_HUMAN	K	1389	ENSP00000296564:E1389K	ENSP00000296564:E1389K	E	+	1	0	KIAA0947	5516612	0.000000	0.05858	0.003000	0.11579	0.081000	0.17604	-0.026000	0.12392	0.921000	0.36994	0.305000	0.20034	GAG		0.458	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			8	19	0	0	0	1	0	8	19				
HIST2H2AB	317772	broad.mit.edu	37	1	149859143	149859143	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:149859143G>C	ENST00000331128.3	-	1	323	c.324C>G	c.(322-324)gtC>gtG	p.V108V	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	108						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TATTGGGCAAGACGCCGCCCT	0.532																																						ENST00000331128.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(322-324)gtC>gtG		histone cluster 2, H2ab							104.0	101.0	102.0					1																	149859143		2203	4300	6503	SO:0001819	synonymous_variant	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859143G>C	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.324C>G	1.37:g.149859143G>C							p.V108V	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	323	-	Breast(34;0.0124)|all_hematologic(923;0.127)		108						Silent	SNP	ENST00000331128.3	37	c.324C>G	CCDS938.1																																																																																				0.532	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		15	80	0	0	0	1	0	15	80				
SMARCA4	6597	broad.mit.edu	37	19	11144856	11144856	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:11144856G>A	ENST00000429416.3	+	29	4212	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K	SMARCA4_ENST00000358026.2_Missense_Mutation_p.E1311K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1278K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1278K|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1278K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1311K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1311					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGCACGAGGAGGAGTTTGA	0.602			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3931-3933)Gag>Aag		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							128.0	101.0	110.0					19																	11144856		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144856G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3931G>A	19.37:g.11144856G>A	ENSP00000395654:p.Glu1311Lys					SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1311K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1311K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1278K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1278K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1278K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1278K	p.E1311K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			28	4215	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1311					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3931G>A	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.336604|4.336604	0.81801|0.81801	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806|ENST00000538456	D;D;D;T;T;T;T|.	0.88818|.	-2.43;-2.41;-2.43;-0.89;-0.89;-0.89;-0.89|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75982|0.75982	0.3924|0.3924	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	P;P;P;P;D;B;P|.	0.55172|.	0.803;0.803;0.803;0.944;0.97;0.246;0.803|.	P;P;P;P;P;B;P|.	0.55508|.	0.652;0.468;0.468;0.621;0.777;0.064;0.468|.	T|T	0.77456|0.77456	-0.2581|-0.2581	10|5	0.72032|.	D|.	0.01|.	-44.6134|-44.6134	16.4262|16.4262	0.83815|0.83815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1278;1278;1278;1311;1278;498;1311|.	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532|.	.;.;.;.;.;.;SMCA4_HUMAN|.	K|E	1311;1311;1342;1311;1278;1278;1278;1278|47	ENSP00000395654:E1311K;ENSP00000350720:E1311K;ENSP00000343896:E1311K;ENSP00000445036:E1278K;ENSP00000392837:E1278K;ENSP00000397783:E1278K;ENSP00000414727:E1278K|.	ENSP00000343896:E1311K|.	E|G	+|+	1|2	0|0	SMARCA4|SMARCA4	11005856|11005856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.608000|0.608000	0.37181|0.37181	9.304000|9.304000	0.96190|0.96190	2.423000|2.423000	0.82170|0.82170	0.462000|0.462000	0.41574|0.41574	GAG|GGA		0.602	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		18	70	0	0	0	1	0	18	70				
FOXN2	3344	broad.mit.edu	37	2	48573479	48573479	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:48573479G>A	ENST00000340553.3	+	3	387	c.126G>A	c.(124-126)ccG>ccA	p.P42P		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	42					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTGCCAGGCCGAAGGCCACTC	0.463																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(124-126)ccG>ccA		forkhead box N2							116.0	116.0	116.0					2																	48573479		2203	4300	6503	SO:0001819	synonymous_variant	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573479G>A		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.126G>A	2.37:g.48573479G>A							p.P42P	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	387	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	42					Q15769|Q6P4Q2	Silent	SNP	ENST00000340553.3	37	c.126G>A	CCDS1838.1																																																																																				0.463	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		27	95	0	0	0	1	0	27	95				
RFPL1	5988	broad.mit.edu	37	22	29834886	29834886	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:29834886G>A	ENST00000354373.2	+	1	315	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	36							zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						ACTCTTCCAAGAAGCAAGCAG	0.493																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(106-108)Gaa>Aaa		ret finger protein-like 1							93.0	89.0	91.0					22																	29834886		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29834886G>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.106G>A	22.37:g.29834886G>A	ENSP00000346342:p.Glu36Lys					RFPL1S_ENST00000461286.2_RNA	p.E36K	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	315	+			36					Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.106G>A	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	10.68	1.418870	0.25552	.	.	ENSG00000128250	ENST00000354373	T	0.18960	2.18	1.23	1.23	0.21249	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.20780	0.0500	L	0.55213	1.73	0.09310	N	1	B	0.32302	0.363	B	0.36030	0.216	T	0.22800	-1.0206	9	0.52906	T	0.07	.	6.348	0.21361	0.0:0.0:1.0:0.0	.	36	O75677	RFPL1_HUMAN	K	36	ENSP00000346342:E36K	ENSP00000346342:E36K	E	+	1	0	RFPL1	28164886	0.165000	0.22948	0.038000	0.18304	0.152000	0.21847	1.729000	0.38115	0.579000	0.29504	0.418000	0.28097	GAA		0.493	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		48	118	0	0	0	1	0	48	118				
TBC1D1	23216	broad.mit.edu	37	4	38051364	38051364	+	Silent	SNP	G	G	A	rs202224734		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:38051364G>A	ENST00000261439.4	+	11	2110	c.1755G>A	c.(1753-1755)tcG>tcA	p.S585S	TBC1D1_ENST00000508802.1_Silent_p.S585S	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	585					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTCCGCTGTCGCCCCAGCAGG	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16487	0.0		0.0	False		,,,				2504	0.0					ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(1753-1755)tcG>tcA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							61.0	63.0	63.0					4																	38051364		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38051364G>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1755G>A	4.37:g.38051364G>A						TBC1D1_ENST00000508802.1_Silent_p.S585S	p.S585S	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			11	2110	+			585					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.1755G>A	CCDS33972.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	9.020|9.020	0.984741|0.984741	0.18889|0.18889	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000513936;ENST00000443855	.|.	.|.	.|.	5.36|5.36	-10.7|-10.7	0.00240|0.00240	.|.	.|.	.|.	.|.	.|.	T|T	0.24812|0.24812	0.0602|0.0602	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.25012|0.25012	-1.0144|-1.0144	4|4	.|.	.|.	.|.	-9.2375|-9.2375	8.6618|8.6618	0.34097|0.34097	0.157:0.3445:0.4292:0.0693|0.157:0.3445:0.4292:0.0693	.|.	.|.	.|.	.|.	T|H	233|110;77	.|.	.|.	A|R	+|+	1|2	0|0	TBC1D1|TBC1D1	37727759|37727759	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.975000|0.975000	0.68041|0.68041	-3.800000|-3.800000	0.00363|0.00363	-4.367000|-4.367000	0.00053|0.00053	-0.302000|-0.302000	0.09304|0.09304	GCC|CGC		0.632	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		19	94	0	0	0	1	0	19	94				
SORT1	6272	broad.mit.edu	37	1	109869745	109869745	+	Silent	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:109869745A>G	ENST00000256637.6	-	13	1570	c.1512T>C	c.(1510-1512)gaT>gaC	p.D504D	SORT1_ENST00000538502.1_Silent_p.D367D	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	504					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AGATGTACACATCTGGAACCA	0.473																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1510-1512)gaT>gaC		sortilin 1							142.0	129.0	134.0					1																	109869745		2203	4300	6503	SO:0001819	synonymous_variant	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109869745A>G	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1512T>C	1.37:g.109869745A>G						SORT1_ENST00000538502.1_Silent_p.D367D	p.D504D	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	13	1570	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	504					B4DWI3|C0JYZ0|Q8IZ49	Silent	SNP	ENST00000256637.6	37	c.1512T>C	CCDS798.1																																																																																				0.473	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		14	57	0	0	0	1	0	14	57				
SEPT11	55752	broad.mit.edu	37	4	77941766	77941766	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:77941766G>A	ENST00000264893.6	+	7	1097	c.896G>A	c.(895-897)cGc>cAc	p.R299H	SEPT11_ENST00000541121.1_Missense_Mutation_p.R309H|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Missense_Mutation_p.R309H|SEPT11_ENST00000502584.1_Missense_Mutation_p.R299H|SEPT11_ENST00000505788.1_Missense_Mutation_p.R299H	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	299	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						TTGTACCGACGCTGTAAGCTT	0.507																																						ENST00000264893.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						c.(895-897)cGc>cAc		septin 11							93.0	79.0	83.0					4																	77941766		2203	4300	6503	SO:0001583	missense	55752				cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	g.chr4:77941766G>A	AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.896G>A	4.37:g.77941766G>A	ENSP00000264893:p.Arg299His					SEPT11_ENST00000502584.1_Missense_Mutation_p.R299H|SEPT11_ENST00000541121.1_Missense_Mutation_p.R309H|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Missense_Mutation_p.R309H|SEPT11_ENST00000505788.1_Missense_Mutation_p.R299H	p.R299H	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN			7	1097	+			299					B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	ENST00000264893.6	37	c.896G>A	CCDS34018.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.627437|4.627437	0.87560|0.87560	.|.	.|.	ENSG00000138758|ENSG00000138758	ENST00000506731|ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	.|D;D;D;D;D;D	.|0.83163	.|-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.151002	.|0.46758	.|D	.|0.000271	D|D	0.91240|0.91240	0.7239|0.7239	M|M	0.81682|0.81682	2.555|2.555	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.71414	.|0.955;0.939;0.973	D|D	0.89675|0.89675	0.3886|0.3886	5|10	.|0.33940	.|T	.|0.23	.|.	19.4895|19.4895	0.95044|0.95044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|309;291;299	.|Q9NVA2-2;D6RDU5;Q9NVA2	.|.;.;SEP11_HUMAN	T|H	28|299;299;291;299;309;309	.|ENSP00000264893:R299H;ENSP00000426344:R299H;ENSP00000420839:R291H;ENSP00000424925:R299H;ENSP00000422896:R309H;ENSP00000443701:R309H	.|ENSP00000264893:R299H	A|R	+|+	1|2	0|0	SEPT11|SEPT11	78160790|78160790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.430000|0.430000	0.31655|0.31655	9.363000|9.363000	0.97131|0.97131	2.596000|2.596000	0.87737|0.87737	0.655000|0.655000	0.94253|0.94253	GCT|CGC		0.507	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362676.1	NM_018243		3	29	0	0	0	1	0	3	29				
DGKK	139189	broad.mit.edu	37	X	50165507	50165507	+	RNA	SNP	C	C	T	rs375510617		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:50165507C>T	ENST00000376025.2	-	0	833							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACAGATCAATCGTTTCAAAGT	0.428													C|||	5	0.0013245	0.0	0.0014	3775	,	,		12952	0.004		0.0	False		,,,				2504	0.0					ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa		C		2,3298		0,2,1363,570	84.0	80.0	82.0		774	-1.5	1.0	X		82	0,6468		0,0,2338,1792	no	coding-synonymous	DGKK	NM_001013742.2		0,2,3701,2362	TT,TC,CC,C		0.0,0.0606,0.0205		258/1272	50165507	2,9766	1935	4130	6065			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50165507C>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165507C>T										Q5KSL6	DGKK_HUMAN			0	833	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.428	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		19	22	0	0	0	1	0	19	22				
FRMD5	84978	broad.mit.edu	37	15	44211674	44211674	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:44211674C>T	ENST00000417257.1	-	4	488	c.312G>A	c.(310-312)ctG>ctA	p.L104L	FRMD5_ENST00000402883.1_Silent_p.L104L|FRMD5_ENST00000484674.1_Silent_p.L15L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	104	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTTCTTCTTTCAGAGCAGCAG	0.512																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(310-312)ctG>ctA		FERM domain containing 5							174.0	178.0	177.0					15																	44211674		2198	4298	6496	SO:0001819	synonymous_variant	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44211674C>T	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.312G>A	15.37:g.44211674C>T						FRMD5_ENST00000484674.1_Silent_p.L15L|FRMD5_ENST00000402883.1_Silent_p.L104L	p.L104L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	4	488	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	104			FERM.		Q8NBG4	Silent	SNP	ENST00000417257.1	37	c.312G>A	CCDS10107.2																																																																																				0.512	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		52	197	0	0	0	1	0	52	197				
MAPK1	5594	broad.mit.edu	37	22	22162014	22162014	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:22162014C>T	ENST00000215832.6	-	2	429	c.241G>A	c.(241-243)Gag>Aag	p.E81K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E81K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E81K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	ATGATGTTCTCATGTCTGAAG	0.438																																						ENST00000215832.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(241-243)Gag>Aag		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						200.0	170.0	180.0					22																	22162014		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22162014C>T	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.241G>A	22.37:g.22162014C>T	ENSP00000215832:p.Glu81Lys					MAPK1_ENST00000398822.3_Missense_Mutation_p.E81K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E81K	p.E81K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	2	429	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	81			Protein kinase.		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.241G>A	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.559617	0.96514	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.43688	0.94;0.94;0.94	4.64	4.64	0.57946	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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	0.54127	0.1839	L	0.28740	0.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.59311	-0.7478	10	0.87932	D	0	-22.2598	18.0615	0.89379	0.0:1.0:0.0:0.0	.	81;81	A8CZ64;P28482	.;MK01_HUMAN	K	81;69;81;81	ENSP00000215832:E81K;ENSP00000381803:E81K;ENSP00000440842:E81K	ENSP00000215832:E81K	E	-	1	0	MAPK1	20492014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.565000	0.86533	0.591000	0.81541	GAG		0.438	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			30	103	0	0	0	1	0	30	103				
MAP3K7	6885	broad.mit.edu	37	6	91263225	91263225	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:91263225C>T	ENST00000369329.3	-	7	849	c.688G>A	c.(688-690)Gat>Aat	p.D230N	MAP3K7_ENST00000369332.3_Missense_Mutation_p.D230N|MAP3K7_ENST00000369327.3_Missense_Mutation_p.D230N|MAP3K7_ENST00000369320.1_5'Flank|MAP3K7_ENST00000369325.3_Missense_Mutation_p.D230N	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	230	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CCAATCTCATCAAAGGGTTTC	0.373																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(688-690)Gat>Aat		mitogen-activated protein kinase kinase kinase 7							104.0	109.0	108.0					6																	91263225		2203	4300	6503	SO:0001583	missense	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.chr6:91263225C>T	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.688G>A	6.37:g.91263225C>T	ENSP00000358335:p.Asp230Asn					MAP3K7_ENST00000369327.3_Missense_Mutation_p.D230N|MAP3K7_ENST00000369332.3_Missense_Mutation_p.D230N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.D230N	p.D230N	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)	7	849	-		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)	230			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.688G>A	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432922	0.83776	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.61	5.61	0.85477	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094127	0.64402	D	0.000001	T	0.67581	0.2908	N	0.25094	0.71	0.80722	D	1	B;B;B;B	0.31459	0.039;0.014;0.324;0.01	B;B;B;B	0.31812	0.01;0.006;0.136;0.01	T	0.68217	-0.5467	10	0.38643	T	0.18	.	19.6349	0.95726	0.0:1.0:0.0:0.0	.	230;230;230;230	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	N	230;230;230;230;157	ENSP00000358338:D230N;ENSP00000358335:D230N;ENSP00000358331:D230N;ENSP00000358333:D230N	ENSP00000358331:D230N	D	-	1	0	MAP3K7	91319946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.786000	0.85741	2.643000	0.89663	0.460000	0.39030	GAT		0.373	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		40	135	0	0	0	1	0	40	135				
SPATA20	64847	broad.mit.edu	37	17	48627670	48627670	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:48627670C>G	ENST00000356488.4	+	8	1130	c.1047C>G	c.(1045-1047)ttC>ttG	p.F349L	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.F305L|SPATA20_ENST00000006658.6_Missense_Mutation_p.F365L	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	349					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGCAGGCCTTCCAGGTGACCC	0.592											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1093-1095)ttC>ttG		spermatogenesis associated 20							48.0	49.0	48.0					17																	48627670		2203	4299	6502	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48627670C>G		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1047C>G	17.37:g.48627670C>G	ENSP00000348878:p.Phe349Leu		OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	119	SPATA20_ENST00000393244.3_Missense_Mutation_p.F305L|SPATA20_ENST00000356488.4_Missense_Mutation_p.F349L|SPATA20_ENST00000511937.1_3'UTR	p.F365L	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		9	1215	+	Breast(11;1.23e-18)		349					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.1095C>G	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763754	0.69878	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.30182	1.54;1.54;1.54	5.81	4.85	0.62838	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.101186	0.64402	D	0.000001	T	0.41050	0.1142	M	0.63428	1.95	0.80722	D	1	P;P	0.43352	0.804;0.779	P;P	0.50537	0.643;0.511	T	0.32745	-0.9895	10	0.66056	D	0.02	-18.9535	9.2872	0.37764	0.0:0.7861:0.0:0.2139	.	349;365	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	L	365;349;305	ENSP00000006658:F365L;ENSP00000348878:F349L;ENSP00000376935:F305L	ENSP00000006658:F365L	F	+	3	2	SPATA20	45982669	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	1.115000	0.31209	1.469000	0.48083	0.655000	0.94253	TTC		0.592	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		11	40	0	0	0	1	0	11	40				
EXOC1	55763	broad.mit.edu	37	4	56759928	56759928	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:56759928G>C	ENST00000381295.2	+	15	2283	c.1935G>C	c.(1933-1935)agG>agC	p.R645S	EXOC1_ENST00000349598.6_Missense_Mutation_p.R630S|EXOC1_ENST00000346134.7_Missense_Mutation_p.R645S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	645					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTGTCAAAAGGAACTTTGACA	0.333																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1933-1935)agG>agC		exocyst complex component 1							68.0	64.0	65.0					4																	56759928		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56759928G>C	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1935G>C	4.37:g.56759928G>C	ENSP00000370695:p.Arg645Ser					EXOC1_ENST00000346134.7_Missense_Mutation_p.R645S|EXOC1_ENST00000349598.6_Missense_Mutation_p.R630S	p.R645S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			15	2283	+	Glioma(25;0.08)|all_neural(26;0.101)		645					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1935G>C	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401786	0.62288	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.89	1.29	0.21616	.	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.74348	0.983;0.893	T	0.66988	-0.5784	9	0.07175	T	0.84	.	7.093	0.25295	0.2523:0.1135:0.6341:0.0	.	630;645	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	S	645;645;630	.	ENSP00000326514:R645S	R	+	3	2	EXOC1	56454685	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.070000	0.41491	-0.074000	0.12820	0.655000	0.94253	AGG		0.333	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		16	72	0	0	0	1	0	16	72				
OSBPL7	114881	broad.mit.edu	37	17	45886706	45886706	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:45886706G>A	ENST00000007414.3	-	19	2210	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	OSBPL7_ENST00000392507.3_Silent_p.F673F	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	673					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACACCTTGCAGAAGGTGATCT	0.597																																						ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2017-2019)ttC>ttT		oxysterol binding protein-like 7							126.0	87.0	100.0					17																	45886706		2203	4300	6503	SO:0001819	synonymous_variant	114881				lipid transport		lipid binding	g.chr17:45886706G>A	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2019C>T	17.37:g.45886706G>A						OSBPL7_ENST00000392507.3_Silent_p.F673F	p.F673F	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			19	2210	-			673					D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	c.2019C>T	CCDS11515.1																																																																																				0.597	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		12	43	0	0	0	1	0	12	43				
FAM111A	63901	broad.mit.edu	37	11	58919321	58919321	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:58919321C>T	ENST00000528737.1	+	5	2998	c.180C>T	c.(178-180)ttC>ttT	p.F60F	FAM111A_ENST00000361723.3_Silent_p.F60F|FAM111A_ENST00000533703.1_Silent_p.F60F|FAM111A_ENST00000420244.1_Silent_p.F60F|FAM111A_ENST00000531147.1_Silent_p.F60F			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	60					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CTCAAAGATTCCATTCACCTA	0.413																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(178-180)ttC>ttT		family with sequence similarity 111, member A							119.0	123.0	122.0					11																	58919321		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919321C>T	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.180C>T	11.37:g.58919321C>T						FAM111A_ENST00000420244.1_Silent_p.F60F|FAM111A_ENST00000361723.3_Silent_p.F60F|FAM111A_ENST00000531147.1_Silent_p.F60F|FAM111A_ENST00000533703.1_Silent_p.F60F	p.F60F			Q96PZ2	F111A_HUMAN			5	2998	+		all_epithelial(135;0.139)	60					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.180C>T	CCDS7973.1																																																																																				0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		28	120	0	0	0	1	0	28	120				
INPP5B	3633	broad.mit.edu	37	1	38331545	38331545	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:38331545G>A	ENST00000373026.1	-	21	2642	c.2642C>T	c.(2641-2643)tCt>tTt	p.S881F	INPP5B_ENST00000373023.2_Missense_Mutation_p.S881F|INPP5B_ENST00000373024.3_Missense_Mutation_p.S801F|INPP5B_ENST00000373027.1_Missense_Mutation_p.S637F			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	881	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCGGCTACAGAATGATTGCT	0.512																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(2641-2643)tCt>tTt		inositol polyphosphate-5-phosphatase, 75kDa							69.0	68.0	69.0					1																	38331545		1939	4137	6076	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38331545G>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2642C>T	1.37:g.38331545G>A	ENSP00000362117:p.Ser881Phe					INPP5B_ENST00000373026.1_Missense_Mutation_p.S881F|INPP5B_ENST00000373024.3_Missense_Mutation_p.S801F|INPP5B_ENST00000373027.1_Missense_Mutation_p.S637F	p.S881F	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			22	2735	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	881			Rho-GAP.		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2642C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.976321	0.74360	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373026;ENST00000373024	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	5.41	5.41	0.78517	.	0.056173	0.64402	D	0.000001	T	0.55016	0.1894	M	0.88906	2.99	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.62338	-0.6875	10	0.87932	D	0	.	19.3942	0.94598	0.0:0.0:1.0:0.0	.	801	P32019-2	.	F	637;881;881;801	ENSP00000362118:S637F;ENSP00000362114:S881F;ENSP00000362117:S881F;ENSP00000362115:S801F	ENSP00000362114:S881F	S	-	2	0	INPP5B	38104132	1.000000	0.71417	0.904000	0.35570	0.573000	0.36030	9.263000	0.95617	2.816000	0.96949	0.563000	0.77884	TCT		0.512	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		6	57	0	0	0	1	0	6	57				
ATP13A5	344905	broad.mit.edu	37	3	193082049	193082049	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:193082049G>C	ENST00000342358.4	-	2	201	c.84C>G	c.(82-84)gaC>gaG	p.D28E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	28						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTACATTGTGGTCCCGGTAAC	0.448																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(82-84)gaC>gaG		ATPase type 13A5							141.0	147.0	145.0					3																	193082049		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193082049G>C	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.84C>G	3.37:g.193082049G>C	ENSP00000341942:p.Asp28Glu						p.D28E	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	2	201	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		28					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.84C>G	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	7.714	0.695806	0.15106	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.20738	2.05;2.05	5.5	-3.31	0.04988	.	0.387671	0.24854	N	0.035068	T	0.05273	0.0140	N	0.03608	-0.345	0.09310	N	1	B	0.20671	0.047	B	0.25987	0.065	T	0.32719	-0.9896	10	0.07813	T	0.8	-6.3152	2.0128	0.03492	0.4503:0.2335:0.1973:0.1189	.	28	Q4VNC0	AT135_HUMAN	E	28;50	ENSP00000341942:D28E;ENSP00000389416:D50E	ENSP00000341942:D28E	D	-	3	2	ATP13A5	194564743	0.237000	0.23815	0.049000	0.19019	0.002000	0.02628	-1.039000	0.03550	-0.263000	0.09378	-0.182000	0.12963	GAC		0.448	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		9	224	0	0	0	1	0	9	224				
POR	5447	broad.mit.edu	37	7	75608783	75608783	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:75608783C>T	ENST00000461988.1	+	4	357	c.252C>T	c.(250-252)atC>atT	p.I84I	POR_ENST00000475509.1_3'UTR|POR_ENST00000394893.1_Silent_p.I84I|POR_ENST00000419840.1_5'UTR|POR_ENST00000545601.1_5'Flank|POR_ENST00000450476.1_5'Flank|POR_ENST00000439269.1_5'Flank	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	81	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GGAACATCATCGTGTTCTACG	0.647																																						ENST00000394893.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(250-252)atC>atT		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						41.0	49.0	46.0					7																	75608783		2091	4210	6301	SO:0001819	synonymous_variant	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75608783C>T	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.252C>T	7.37:g.75608783C>T						POR_ENST00000475509.1_3'UTR|POR_ENST00000461988.1_Silent_p.I84I|POR_ENST00000419840.1_5'UTR	p.I84I			P16435	NCPR_HUMAN			4	272	+			81			Flavodoxin-like.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Silent	SNP	ENST00000461988.1	37	c.252C>T	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	C	7.449	0.642201	0.14451	.	.	ENSG00000127948	ENST00000447222;ENST00000439297	.	.	.	3.78	-6.07	0.02158	.	.	.	.	.	T	0.52403	0.1732	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58797	-0.7573	5	0.87932	D	0	-19.6062	3.2642	0.06859	0.0958:0.1611:0.2772:0.466	.	.	.	.	C	57;31	.	ENSP00000403494:R31C	R	+	1	0	POR	75446719	0.000000	0.05858	0.146000	0.22360	0.895000	0.52256	-2.857000	0.00728	-1.408000	0.02040	-0.829000	0.03081	CGT		0.647	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		8	34	0	0	0	1	0	8	34				
RNF39	80352	broad.mit.edu	37	6	30043456	30043456	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:30043456G>C	ENST00000244360.6	-	1	208	c.111C>G	c.(109-111)atC>atG	p.I37M	RNF39_ENST00000376751.3_Missense_Mutation_p.I37M	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	37						cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)										TTGCTGTGTAGATGCCCTTCT	0.612																																					NSCLC(8;188 360 1520 20207 31481)	ENST00000244360.6																			0											c.(109-111)atC>atG		ring finger protein 39							40.0	42.0	41.0					6																	30043456		2203	4300	6503	SO:0001583	missense	80352					cytoplasm	zinc ion binding	g.chr6:30043456G>C	AF238315	CCDS4673.1, CCDS4674.1	6p21.3	2013-01-09			ENSG00000204618	ENSG00000204618		"""RING-type (C3HC4) zinc fingers"""	18064	protein-coding gene	gene with protein product		607524				11130983, 11716498	Standard	NM_170769		Approved	HZFw1, LIRF	uc003npe.3	Q9H2S5	OTTHUMG00000031288	ENST00000244360.6:c.111C>G	6.37:g.30043456G>C	ENSP00000244360:p.Ile37Met					RNF39_ENST00000376751.3_Missense_Mutation_p.I37M	p.I37M	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN			1	208	-			37					A2BEK3|A6NCD6|B0S858|Q5SPM8|Q5SPM9|Q5SPN0|Q5SRJ9|Q5SRK1|Q5SS29|Q9H2S3|Q9H2S4	Missense_Mutation	SNP	ENST00000244360.6	37	c.111C>G	CCDS4673.1	.	.	.	.	.	.	.	.	.	.	g	12.42	1.933179	0.34096	.	.	ENSG00000204618	ENST00000376751;ENST00000244360;ENST00000376746	T;T	0.73047	-0.26;-0.71	4.04	-1.6	0.08426	.	.	.	.	.	T	0.16385	0.0394	N	0.08118	0	0.09310	N	1	B;P	0.36495	0.42;0.556	B;B	0.29598	0.048;0.104	T	0.12578	-1.0542	9	0.23891	T	0.37	.	1.0137	0.01502	0.1757:0.2575:0.3053:0.2615	.	37;37	Q9H2S5;Q9H2S5-2	RNF39_HUMAN;.	M	37	ENSP00000365942:I37M;ENSP00000244360:I37M	ENSP00000244360:I37M	I	-	3	3	RNF39	30151435	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-0.254000	0.08781	-0.304000	0.08843	0.436000	0.28706	ATC		0.612	RNF39-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076625.3	NM_170769		16	56	0	0	0	1	0	16	56				
NKIRAS1	28512	broad.mit.edu	37	3	23934657	23934657	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:23934657G>C	ENST00000443659.2	-	4	1285	c.508C>G	c.(508-510)Caa>Gaa	p.Q170E	NKIRAS1_ENST00000437230.1_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.Q170E			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	170					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						CTCTGGGGTTGAGAAAGTTTA	0.398																																						ENST00000443659.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(508-510)Caa>Gaa		NFKB inhibitor interacting Ras-like 1							129.0	118.0	122.0					3																	23934657		2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23934657G>C	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.508C>G	3.37:g.23934657G>C	ENSP00000393785:p.Gln170Glu					NKIRAS1_ENST00000415901.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.Q170E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.Q170E	p.Q170E			Q9NYS0	KBRS1_HUMAN			4	1285	-			170					Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.508C>G	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578339	0.65878	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.84687	0.5527	M	0.75777	2.31	0.80722	D	1	D;D	0.55385	0.964;0.971	P;P	0.53988	0.712;0.739	D	0.86251	0.1649	10	0.54805	T	0.06	-22.6837	18.167	0.89731	0.0:0.0:1.0:0.0	.	170;170	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	E	170	ENSP00000373411:Q170E;ENSP00000393785:Q170E;ENSP00000392307:Q170E;ENSP00000400385:Q170E;ENSP00000406543:Q170E;ENSP00000396063:Q170E;ENSP00000415225:Q170E;ENSP00000394214:Q170E	ENSP00000373411:Q170E	Q	-	1	0	NKIRAS1	23909661	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	9.554000	0.98121	2.522000	0.85027	0.591000	0.81541	CAA		0.398	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		28	99	0	0	0	1	0	28	99				
SP2	6668	broad.mit.edu	37	17	46000473	46000473	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:46000473C>G	ENST00000376741.4	+	4	1342	c.1205C>G	c.(1204-1206)tCa>tGa	p.S402*	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	402					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AAAAAGCACTCAGCTGCAATT	0.612																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1204-1206)tCa>tGa		Sp2 transcription factor							89.0	78.0	82.0					17																	46000473		2203	4300	6503	SO:0001587	stop_gained	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:46000473C>G		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1205C>G	17.37:g.46000473C>G	ENSP00000365931:p.Ser402*					AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	p.S402*	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			4	1342	+			402					A6NK74	Nonsense_Mutation	SNP	ENST00000376741.4	37	c.1205C>G	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	38	6.661662	0.97743	.	.	ENSG00000167182	ENST00000376741	.	.	.	6.17	5.2	0.72013	.	0.343042	0.24745	N	0.035941	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	14.6987	0.69142	0.1462:0.8538:0.0:0.0	.	.	.	.	X	402	.	ENSP00000365931:S402X	S	+	2	0	SP2	43355472	0.347000	0.24853	0.965000	0.40720	0.999000	0.98932	5.138000	0.64795	1.601000	0.50113	0.655000	0.94253	TCA		0.612	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		13	38	0	0	0	1	0	13	38				
HPS3	84343	broad.mit.edu	37	3	148858056	148858056	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:148858056G>A	ENST00000296051.2	+	2	623	c.483G>A	c.(481-483)ttG>ttA	p.L161L	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	161					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATTTAGTTTGAAGTACCAGA	0.388									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.(481-483)ttG>ttA		Hermansky-Pudlak syndrome 3							119.0	118.0	118.0					3																	148858056		2203	4300	6503	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148858056G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.483G>A	3.37:g.148858056G>A						HPS3_ENST00000460120.1_Intron	p.L161L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		2	623	+			161					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.483G>A	CCDS3140.1																																																																																				0.388	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		34	160	0	0	0	1	0	34	160				
ARHGAP35	2909	broad.mit.edu	37	19	47424871	47424871	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:47424871C>T	ENST00000404338.3	+	1	2939	c.2939C>T	c.(2938-2940)tCa>tTa	p.S980L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	980					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTCTGCAACTCAAACCTGCAG	0.498																																						ENST00000404338.3																			0											c.(2938-2940)tCa>tTa		Rho GTPase activating protein 35							53.0	52.0	52.0					19																	47424871		1942	4139	6081	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424871C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2939C>T	19.37:g.47424871C>T	ENSP00000385720:p.Ser980Leu						p.S980L	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2939	+			980					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2939C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240005	0.58995	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.07114	3.22	5.86	5.86	0.93980	.	0.300277	0.37136	N	0.002232	T	0.08891	0.0220	L	0.36672	1.1	0.58432	D	0.999999	B	0.24920	0.114	B	0.20955	0.032	T	0.30179	-0.9987	10	0.13853	T	0.58	-18.6877	18.9487	0.92632	0.0:1.0:0.0:0.0	.	980	Q9NRY4-2	.	L	980	ENSP00000385720:S980L	ENSP00000324820:S980L	S	+	2	0	ARHGAP35	52116711	0.748000	0.28294	0.969000	0.41365	0.938000	0.57974	1.601000	0.36773	2.778000	0.95560	0.655000	0.94253	TCA		0.498	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		23	71	0	0	0	1	0	23	71				
TSTD2	158427	broad.mit.edu	37	9	100388016	100388016	+	Silent	SNP	G	G	A	rs376838694		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:100388016G>A	ENST00000341170.4	-	3	811	c.429C>T	c.(427-429)gaC>gaT	p.D143D	TSTD2_ENST00000354801.2_De_novo_Start_OutOfFrame	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	143										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AAGCAGACACGTCATGGCTAT	0.393																																						ENST00000375172.2																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15								thiosulfate sulfurtransferase (rhodanese)-like domain containing 2		G		1,4405	2.1+/-5.4	0,1,2202	167.0	167.0	167.0		429	-9.6	0.0	9		167	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSTD2	NM_139246.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		143/517	100388016	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	158427							g.chr9:100388016G>A	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.429C>T	9.37:g.100388016G>A						TSTD2_ENST00000354801.2_De_novo_Start_OutOfFrame|TSTD2_ENST00000375165.1_De_novo_Start_OutOfFrame|TSTD2_ENST00000341170.4_Silent_p.D143D|TSTD2_ENST00000375163.1_De_novo_Start_OutOfFrame				Q5T7W7	TSTD2_HUMAN			0	629	-								A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Translation_Start_Site	SNP	ENST00000341170.4	37		CCDS6727.2																																																																																				0.393	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		39	169	0	0	0	1	0	39	169				
LAMB2	3913	broad.mit.edu	37	3	49160617	49160617	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49160617C>T	ENST00000418109.1	-	27	4336	c.4172G>A	c.(4171-4173)gGc>gAc	p.G1391D	USP19_ENST00000453664.1_5'Flank|USP19_ENST00000398888.2_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000305544.4_Missense_Mutation_p.G1391D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1391	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGAGAGCTTGCCAAGTGCCCG	0.562																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(4171-4173)gGc>gAc		laminin, beta 2 (laminin S)							170.0	141.0	151.0					3																	49160617		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49160617C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4172G>A	3.37:g.49160617C>T	ENSP00000388325:p.Gly1391Asp					LAMB2_ENST00000305544.4_Missense_Mutation_p.G1391D	p.G1391D	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4336	-			1391			Domain II.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.4172G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.102756	0.00033	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.32272	1.46;1.46	5.78	1.62	0.23740	.	0.820015	0.11306	N	0.577729	T	0.17066	0.0410	L	0.34521	1.04	0.09310	N	1	B	0.17465	0.022	B	0.11329	0.006	T	0.36261	-0.9755	10	0.02654	T	1	.	5.5707	0.17194	0.0:0.377:0.1808:0.4421	.	1391	P55268	LAMB2_HUMAN	D	1391;1391;158	ENSP00000388325:G1391D;ENSP00000307156:G1391D	ENSP00000307156:G1391D	G	-	2	0	LAMB2	49135621	0.000000	0.05858	0.007000	0.13788	0.031000	0.12232	-0.216000	0.09266	0.230000	0.21059	-0.137000	0.14449	GGC		0.562	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		4	106	0	0	0	1	0	4	106				
RFX7	64864	broad.mit.edu	37	15	56388213	56388213	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388213C>T	ENST00000559447.2	-	9	1693	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	RFX7_ENST00000422057.1_Silent_p.Q474Q|RFX7_ENST00000423270.1_Silent_p.Q571Q|RFX7_ENST00000317318.6_Silent_p.Q571Q			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	474					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TATTACTTTTCTGCCCCAAAA	0.453																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1711-1713)caG>caA		regulatory factor X, 7							68.0	61.0	64.0					15																	56388213		1887	4101	5988	SO:0001819	synonymous_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388213C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1422G>A	15.37:g.56388213C>T						RFX7_ENST00000422057.1_Silent_p.Q474Q|RFX7_ENST00000559447.2_Silent_p.Q474Q|RFX7_ENST00000317318.6_Silent_p.Q571Q	p.Q571Q	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1712	-			474					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37	c.1713G>A																																																																																					0.453	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		8	23	0	0	0	1	0	8	23				
HMGA2	8091	broad.mit.edu	37	12	66308868	66308868	+	Intron	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:66308868G>T	ENST00000403681.2	+	4	1389				HMGA2_ENST00000354636.3_Missense_Mutation_p.K93N|HMGA2_ENST00000541363.1_Intron|AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000536545.1_3'UTR|HMGA2_ENST00000393577.3_Intron	NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2						adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|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)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		CCAGCTCCAAGAAGAAAACAT	0.423			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""																																	ENST00000354636.3				Dom	yes		12	12q15	8091	T	high mobility group AT-hook 2 (HMGIC)			M	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""		"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""	HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	0				lung(2)	2						c.(277-279)aaG>aaT		high mobility group AT-hook 2							182.0	167.0	172.0					12																	66308868		2203	4300	6503	SO:0001627	intron_variant	8091				cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding	g.chr12:66308868G>T	U28754	CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1	12q15	2011-07-01	2002-07-25	2002-07-26	ENSG00000149948	ENSG00000149948		"""High-mobility group / Canonical"""	5009	protein-coding gene	gene with protein product		600698	"""high-mobility group (nonhistone chromosomal) protein isoform I-C"""	HMGIC		8824803, 9003504	Standard	XM_006719620		Approved	BABL, LIPO	uc001ssx.3	P52926	OTTHUMG00000168936	ENST00000403681.2:c.250-36295G>T	12.37:g.66308868G>T						HMGA2_ENST00000536545.1_3'UTR|AC090673.2_ENST00000601398.1_Intron|HMGA2_ENST00000541363.1_Intron|HMGA2_ENST00000403681.2_Intron|HMGA2_ENST00000393577.3_Intron	p.K93N	NM_003484.1	NP_003475.1	P52926	HMGA2_HUMAN	GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)	4	1090	+	all_cancers(1;5.78e-46)		93					E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188	Missense_Mutation	SNP	ENST00000403681.2	37	c.279G>T	CCDS44936.1	.	.	.	.	.	.	.	.	.	.	G	9.268	1.044955	0.19748	.	.	ENSG00000149948	ENST00000354636	.	.	.	3.22	0.0367	0.14193	.	.	.	.	.	T	0.22781	0.0550	.	.	.	0.09310	N	1	B	0.16166	0.016	B	0.14023	0.01	T	0.22521	-1.0214	6	.	.	.	.	5.4245	0.16417	0.4498:0.0:0.5502:0.0	.	93	Q1M182	.	N	93	.	.	K	+	3	2	HMGA2	64595135	0.000000	0.05858	0.016000	0.15963	0.013000	0.08279	0.097000	0.15168	0.008000	0.14787	0.462000	0.41574	AAG		0.423	HMGA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401654.1	NM_003483		33	148	1	0	6.70999e-13	1	7.12328e-13	33	148				
SYTL1	84958	broad.mit.edu	37	1	27676949	27676949	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:27676949G>A	ENST00000543823.1	+	9	1440	c.978G>A	c.(976-978)ctG>ctA	p.L326L	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.L314L			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	326	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AACGGAATCTGAATCCGGTTT	0.592																																						ENST00000543823.1																			0				NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(976-978)ctG>ctA		synaptotagmin-like 1							108.0	93.0	98.0					1																	27676949		2203	4300	6503	SO:0001819	synonymous_variant	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27676949G>A	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.978G>A	1.37:g.27676949G>A						SYTL1_ENST00000318074.5_Silent_p.L314L|SYTL1_ENST00000490170.1_3'UTR	p.L326L			Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	9	1440	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	326			C2 1.		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Silent	SNP	ENST00000543823.1	37	c.978G>A	CCDS53286.1																																																																																				0.592	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		14	46	0	0	0	1	0	14	46				
LRP1	4035	broad.mit.edu	37	12	57592321	57592321	+	Missense_Mutation	SNP	G	G	A	rs200382578		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:57592321G>A	ENST00000243077.3	+	60	10010	c.9544G>A	c.(9544-9546)Gtc>Atc	p.V3182I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3182					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCCGCAGCGTCATCGTGGA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		21680	0.001		0.0	False		,,,				2504	0.0					ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(9544-9546)Gtc>Atc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						94.0	69.0	77.0					12																	57592321		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57592321G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9544G>A	12.37:g.57592321G>A	ENSP00000243077:p.Val3182Ile						p.V3182I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	60	10010	+			3182					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.9544G>A	CCDS8932.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.87	2.364791	0.41902	.	.	ENSG00000123384	ENST00000243077	D	0.95447	-3.71	4.39	3.48	0.39840	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.287283	0.27730	N	0.018093	D	0.89238	0.6658	L	0.28192	0.835	0.80722	D	1	B	0.25719	0.132	B	0.18871	0.023	D	0.83839	0.0256	10	0.14252	T	0.57	.	10.7455	0.46179	0.0976:0.0:0.9024:0.0	.	3182	Q07954	LRP1_HUMAN	I	3182	ENSP00000243077:V3182I	ENSP00000243077:V3182I	V	+	1	0	LRP1	55878588	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	4.608000	0.61141	1.168000	0.42723	0.561000	0.74099	GTC		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	17	0	0	0	1	0	9	17				
CNTLN	54875	broad.mit.edu	37	9	17332691	17332691	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:17332691G>A	ENST00000380647.3	+	10	1691	c.1607G>A	c.(1606-1608)aGa>aAa	p.R536K	CNTLN_ENST00000262360.5_Missense_Mutation_p.R536K|CNTLN_ENST00000425824.1_Missense_Mutation_p.R536K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	536					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAAGCTGAAAGAAAGATTGAA	0.363																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1606-1608)aGa>aAa		centlein, centrosomal protein							71.0	67.0	68.0					9																	17332691		1828	4083	5911	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17332691G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1607G>A	9.37:g.17332691G>A	ENSP00000370021:p.Arg536Lys					CNTLN_ENST00000425824.1_Missense_Mutation_p.R536K|CNTLN_ENST00000262360.5_Missense_Mutation_p.R536K	p.R536K			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	10	1691	+			536					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1607G>A	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480291	0.44044	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.35048	1.33;1.33;1.33	5.54	3.64	0.41730	.	.	.	.	.	T	0.26991	0.0661	L	0.42245	1.32	0.26678	N	0.971602	B;B;B	0.17268	0.011;0.021;0.021	B;B;B	0.15484	0.009;0.013;0.013	T	0.18650	-1.0330	9	0.18710	T	0.47	.	6.9997	0.24803	0.143:0.0:0.7166:0.1404	.	536;536;536	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	K	536	ENSP00000370021:R536K;ENSP00000392798:R536K;ENSP00000262360:R536K	ENSP00000262360:R536K	R	+	2	0	CNTLN	17322691	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.932000	0.48940	1.341000	0.45600	-0.229000	0.12294	AGA		0.363	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		31	77	0	0	0	1	0	31	77				
TBCK	93627	broad.mit.edu	37	4	107092323	107092323	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:107092323C>G	ENST00000273980.5	-	24	2611	c.2164G>C	c.(2164-2166)Gac>Cac	p.D722H	TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394708.2_Missense_Mutation_p.D722H|TBCK_ENST00000394706.3_Missense_Mutation_p.D683H|TBCK_ENST00000361687.4_Missense_Mutation_p.D659H|TBCK_ENST00000432496.2_Missense_Mutation_p.D722H					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CCACTGCTGTCAGAAGATGGC	0.443																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(2164-2166)Gac>Cac		TBC1 domain containing kinase							146.0	143.0	144.0					4																	107092323		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107092323C>G		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2164G>C	4.37:g.107092323C>G	ENSP00000273980:p.Asp722His					TBCK_ENST00000394706.3_Missense_Mutation_p.D683H|TBCK_ENST00000432496.2_Missense_Mutation_p.D722H|TBCK_ENST00000361687.4_Missense_Mutation_p.D659H|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394708.2_Missense_Mutation_p.D722H	p.D722H			Q8TEA7	TBCK_HUMAN			24	2611	-			722						Missense_Mutation	SNP	ENST00000273980.5	37	c.2164G>C	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225228	0.58668	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.66995	-0.18;-0.18;3.71;-0.24;-0.18	4.99	4.99	0.66335	.	0.287654	0.38111	N	0.001807	T	0.67144	0.2862	L	0.39898	1.24	0.51767	D	0.999933	B;P;B	0.42123	0.008;0.771;0.0	B;P;B	0.46940	0.013;0.532;0.001	T	0.70490	-0.4857	10	0.59425	D	0.04	.	17.4038	0.87468	0.0:1.0:0.0:0.0	.	722;683;659	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	H	722;722;659;683;722	ENSP00000273980:D722H;ENSP00000405847:D722H;ENSP00000355338:D659H;ENSP00000378196:D683H;ENSP00000378198:D722H	ENSP00000273980:D722H	D	-	1	0	TBCK	107311772	0.988000	0.35896	0.074000	0.20217	0.977000	0.68977	4.052000	0.57420	2.473000	0.83533	0.585000	0.79938	GAC		0.443	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		32	83	0	0	0	1	0	32	83				
RPRD1A	55197	broad.mit.edu	37	18	33573241	33573241	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:33573241C>T	ENST00000399022.4	-	7	983	c.812G>A	c.(811-813)aGa>aAa	p.R271K	RPRD1A_ENST00000337059.5_Missense_Mutation_p.R235K|RPRD1A_ENST00000590898.1_Missense_Mutation_p.R235K|RPRD1A_ENST00000357384.4_Missense_Mutation_p.R271K|RPRD1A_ENST00000588737.1_Missense_Mutation_p.R235K	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	271					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						CAGGGAAACTCTGGCTAGCTT	0.483																																						ENST00000399022.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						c.(811-813)aGa>aAa		regulation of nuclear pre-mRNA domain containing 1A							88.0	81.0	83.0					18																	33573241		2203	4300	6503	SO:0001583	missense	55197							g.chr18:33573241C>T	AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.812G>A	18.37:g.33573241C>T	ENSP00000381984:p.Arg271Lys					RPRD1A_ENST00000337059.5_Missense_Mutation_p.R235K|RPRD1A_ENST00000588737.1_Missense_Mutation_p.R235K|RPRD1A_ENST00000590898.1_Missense_Mutation_p.R235K|RPRD1A_ENST00000357384.4_Missense_Mutation_p.R271K	p.R271K	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN			7	983	-			271					A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	c.812G>A	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	C	6.099	0.386524	0.11524	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059	.	.	.	5.79	5.79	0.91817	.	0.043939	0.85682	D	0.000000	T	0.41880	0.1178	N	0.17474	0.49	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.13407	0.002;0.009	T	0.30937	-0.9961	9	0.10636	T	0.68	-13.1313	17.5252	0.87798	0.0:1.0:0.0:0.0	.	271;235	Q96P16;Q96P16-3	RPR1A_HUMAN;.	K	271;271;235	.	ENSP00000337476:R235K	R	-	2	0	RPRD1A	31827239	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.884000	0.56175	2.746000	0.94184	0.655000	0.94253	AGA		0.483	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170		13	63	0	0	0	1	0	13	63				
STAG1	10274	broad.mit.edu	37	3	136141363	136141363	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:136141363G>A	ENST00000383202.2	-	19	2182	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	STAG1_ENST00000536929.1_Silent_p.I226I|STAG1_ENST00000236698.5_Silent_p.I642I|STAG1_ENST00000434713.2_Silent_p.I416I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	642					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CACTGCATAAGATACTATAGG	0.393																																						ENST00000383202.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1924-1926)atC>atT		stromal antigen 1							139.0	139.0	139.0					3																	136141363		2203	4300	6503	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136141363G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1926C>T	3.37:g.136141363G>A						STAG1_ENST00000536929.1_Silent_p.I226I|STAG1_ENST00000236698.5_Silent_p.I642I|STAG1_ENST00000434713.2_Silent_p.I416I	p.I642I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN			19	2182	-			642					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.1926C>T	CCDS3090.1																																																																																				0.393	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		42	259	0	0	0	1	0	42	259				
PSMD4	5710	broad.mit.edu	37	1	151239649	151239649	+	Splice_Site	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:151239649G>A	ENST00000368884.3	+	10	1044	c.964G>A	c.(964-966)Gag>Aag	p.E322K	PSMD4_ENST00000368881.4_Splice_Site_p.E325K	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	322					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)|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)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGTTTGCAGGAGGAGGATGA	0.562																																						ENST00000368884.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.e10-1		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4							134.0	125.0	128.0					1																	151239649		2203	4300	6503	SO:0001630	splice_region_variant	5710				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|DNA repair|G1/S transition of mitotic cell cycle|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151239649G>A	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.964-1G>A	1.37:g.151239649G>A						PSMD4_ENST00000368881.4_Splice_Site_p.E325_splice	p.E322_splice	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		10	1044	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		322					D3DV16|Q5VWC5|Q9NS92	Splice_Site	SNP	ENST00000368884.3	37	c.963_splice	CCDS991.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	36|36|36	5.867594|5.867594|5.867594	0.97043|0.97043|0.97043	.|.|.	.|.|.	ENSG00000159352|ENSG00000159352|ENSG00000159352	ENST00000368884;ENST00000368881|ENST00000445776|ENST00000453615	.|.|.	.|.|.	.|.|.	5.65|5.65|5.65	5.65|5.65|5.65	0.86999|0.86999|0.86999	.|.|.	0.057446|.|.	0.64402|.|.	N|.|.	0.000003|.|.	T|T|.	0.63189|0.63189|.	0.2490|0.2490|.	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B|.|.	0.17268|.|.	0.01;0.021|.|.	B;B|.|.	0.15870|.|.	0.013;0.014|.|.	T|T|.	0.57021|0.57021|.	-0.7882|-0.7882|.	8|5|.	.|.|.	.|.|.	.|.|.	-31.9331|-31.9331|-31.9331	18.4558|18.4558|18.4558	0.90720|0.90720|0.90720	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	325;322|.|.	Q5VWC4;P55036|.|.	.;PSMD4_HUMAN|.|.	K|E|X	322;325|137|28	.|.|.	.|.|.	E|G|W	+|+|+	1|2|3	0|0|0	PSMD4|PSMD4|PSMD4	149506273|149506273|149506273	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.874000|0.874000|0.874000	0.50279|0.50279|0.50279	8.929000|8.929000|8.929000	0.92859|0.92859|0.92859	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|GGA|TGG		0.562	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810	Missense_Mutation	30	105	0	0	0	1	0	30	105				
ABAT	18	broad.mit.edu	37	16	8875228	8875228	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:8875228G>A	ENST00000396600.2	+	16	2382	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	ABAT_ENST00000425191.2_Missense_Mutation_p.D482N|ABAT_ENST00000569156.1_Silent_p.G501G|TMEM186_ENST00000564869.1_5'UTR|ABAT_ENST00000567812.1_Missense_Mutation_p.D497N|ABAT_ENST00000268251.8_Missense_Mutation_p.D482N	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	482					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTCTTCAGGGATCACCACGC	0.507																																						ENST00000396600.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(1444-1446)Gat>Aat		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						180.0	139.0	153.0					16																	8875228		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8875228G>A	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.1444G>A	16.37:g.8875228G>A	ENSP00000379845:p.Asp482Asn					TMEM186_ENST00000564869.1_5'UTR|ABAT_ENST00000569156.1_Silent_p.G501G|ABAT_ENST00000567812.1_Missense_Mutation_p.D497N|ABAT_ENST00000268251.8_Missense_Mutation_p.D482N|ABAT_ENST00000425191.2_Missense_Mutation_p.D482N	p.D482N	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN			16	2382	+			482					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.1444G>A	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063608	0.76187	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.78246	-1.16;-1.16;-1.16	5.39	5.39	0.77823	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.054739	0.64402	D	0.000001	T	0.71863	0.3390	L	0.37561	1.115	0.80722	D	1	B	0.18741	0.03	B	0.18263	0.021	T	0.67352	-0.5692	10	0.48119	T	0.1	-12.097	18.1344	0.89614	0.0:0.0:1.0:0.0	.	482	P80404	GABT_HUMAN	N	482	ENSP00000268251:D482N;ENSP00000379845:D482N;ENSP00000411916:D482N	ENSP00000268251:D482N	D	+	1	0	ABAT	8782729	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.688000	0.98670	2.526000	0.85167	0.549000	0.68633	GAT		0.507	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		21	95	0	0	0	1	0	21	95				
SPHKAP	80309	broad.mit.edu	37	2	228855743	228855743	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:228855743C>T	ENST00000392056.3	-	11	4978	c.4932G>A	c.(4930-4932)aaG>aaA	p.K1644K	SPHKAP_ENST00000344657.5_Silent_p.K1615K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1644						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)		CCTGAGATTTCTTAAAGTAGA	0.453																																						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.(4930-4932)aaG>aaA		SPHK1 interactor, AKAP domain containing							80.0	80.0	80.0					2																	228855743		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228855743C>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.4932G>A	2.37:g.228855743C>T						SPHKAP_ENST00000344657.5_Silent_p.K1615K	p.K1644K	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)	11	4978	-		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)	1644					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.4932G>A	CCDS46537.1																																																																																				0.453	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		12	82	0	0	0	1	0	12	82				
ATL1	51062	broad.mit.edu	37	14	51094928	51094928	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:51094928C>G	ENST00000358385.6	+	12	1540	c.1299C>G	c.(1297-1299)atC>atG	p.I433M	ATL1_ENST00000354525.4_Missense_Mutation_p.I433M|ATL1_ENST00000357032.3_Missense_Mutation_p.I433M|ATL1_ENST00000441560.2_Missense_Mutation_p.I433M	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	433					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TCCAATATATCAAGCACAATG	0.438																																						ENST00000441560.2																			0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(1297-1299)atC>atG		atlastin GTPase 1							200.0	177.0	185.0					14																	51094928		2203	4300	6503	SO:0001583	missense	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51094928C>G	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.1299C>G	14.37:g.51094928C>G	ENSP00000351155:p.Ile433Met					ATL1_ENST00000357032.3_Missense_Mutation_p.I433M|ATL1_ENST00000354525.4_Missense_Mutation_p.I433M|ATL1_ENST00000358385.6_Missense_Mutation_p.I433M	p.I433M	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN			13	1780	+			433					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000358385.6	37	c.1299C>G	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598391	0.66332	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.76	3.52	0.40303	Guanylate-binding protein, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	L	0.40543	1.245	0.58432	D	0.999999	B;B	0.22003	0.038;0.063	B;B	0.31337	0.06;0.128	T	0.81337	-0.0978	10	0.28530	T	0.3	-13.846	12.5207	0.56058	0.0:0.8943:0.0:0.1057	.	433;433	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	M	433	ENSP00000413675:I433M;ENSP00000351155:I433M;ENSP00000349534:I433M;ENSP00000346522:I433M	ENSP00000346522:I433M	I	+	3	3	ATL1	50164678	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.326000	0.33735	0.521000	0.28445	0.655000	0.94253	ATC		0.438	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2			33	76	0	0	0	1	0	33	76				
PTPRG	5793	broad.mit.edu	37	3	62254739	62254739	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:62254739G>T	ENST00000474889.1	+	20	3281	c.2904G>T	c.(2902-2904)gaG>gaT	p.E968D	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.E939D	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	968	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGCCAACAGAGAACAGTGAGG	0.353																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2902-2904)gaG>gaT		protein tyrosine phosphatase, receptor type, G							107.0	96.0	100.0					3																	62254739		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62254739G>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2904G>T	3.37:g.62254739G>T	ENSP00000418112:p.Glu968Asp					PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.E939D|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	p.E968D	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	20	3281	+			968			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.2904G>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.083996	0.36758	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.11277	2.79;2.79	5.82	4.05	0.47172	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.15132	0.0365	N	0.21508	0.67	0.58432	D	0.999996	D;B;B	0.54047	0.964;0.019;0.093	D;B;B	0.66196	0.942;0.02;0.059	T	0.12604	-1.0541	10	0.13853	T	0.58	.	10.5322	0.44983	0.206:0.0:0.794:0.0	.	214;939;968	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	D	968;939	ENSP00000418112:E968D;ENSP00000295874:E939D	ENSP00000295874:E939D	E	+	3	2	PTPRG	62229779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.312000	0.43726	0.821000	0.34540	0.650000	0.86243	GAG		0.353	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		15	83	1	0	2.32078e-09	1	2.41703e-09	15	83				
ZNF382	84911	broad.mit.edu	37	19	37117137	37117137	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:37117137G>A	ENST00000292928.2	+	5	451	c.338G>A	c.(337-339)aGa>aAa	p.R113K	ZNF382_ENST00000423582.1_Missense_Mutation_p.R64K|ZNF382_ENST00000439428.1_Missense_Mutation_p.R112K|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.R112K	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	113	Represses transcription. {ECO:0000250}.				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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTAAGGAGAGAAGTAATATT	0.313																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(334-336)aGa>aAa		zinc finger protein 382							47.0	48.0	48.0					19																	37117137		2203	4297	6500	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117137G>A	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.338G>A	19.37:g.37117137G>A	ENSP00000292928:p.Arg113Lys					ZNF382_ENST00000423582.1_Missense_Mutation_p.R64K|ZNF382_ENST00000292928.2_Missense_Mutation_p.R113K|ZNF382_ENST00000439428.1_Missense_Mutation_p.R112K	p.R112K			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	1830	+	Esophageal squamous(110;0.198)		113			Represses transcription (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.335G>A	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	5.468	0.271344	0.10349	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.06218	3.33;3.5;3.51;3.53	5.21	0.656	0.17844	.	0.306973	0.23716	N	0.045274	T	0.02571	0.0078	N	0.11789	0.175	0.26360	N	0.977051	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.11329	0.006;0.006;0.003	T	0.47459	-0.9116	10	0.02654	T	1	.	6.7271	0.23363	0.4102:0.0:0.5898:0.0	.	112;112;113	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	K	64;113;112;112	ENSP00000389722:R64K;ENSP00000292928:R113K;ENSP00000407593:R112K;ENSP00000410113:R112K	ENSP00000292928:R113K	R	+	2	0	ZNF382	41808977	1.000000	0.71417	0.964000	0.40570	0.911000	0.54048	1.194000	0.32174	0.057000	0.16193	-0.253000	0.11424	AGA		0.313	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		32	101	0	0	0	1	0	32	101				
SIGLEC16	400709	broad.mit.edu	37	19	50474960	50474960	+	RNA	SNP	C	C	G	rs201054007	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:50474960C>G	ENST00000602139.1	+	0	1035							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A337G(1)|p.A299G(1)		endometrium(2)|kidney(2)|lung(6)	10						GTTTCCCAAGCAAACAGGACA	0.597																																						ENST00000602139.1																			2	Substitution - Missense(2)	p.A337G(1)|p.A299G(1)	endometrium(2)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50474960C>G	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50474960C>G														0	1035	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	C	8.640	0.895790	0.17686	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	2.09	-4.17	0.03857	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.896444	0.09326	N	0.817572	T	0.25644	0.0624	.	.	.	0.09310	N	1	B	0.21309	0.054	B	0.23419	0.046	T	0.17228	-1.0376	8	0.39692	T	0.17	.	4.75	0.13056	0.3457:0.3082:0.3461:0.0	.	337	A6NMB1	SIG16_HUMAN	G	365;337	.	ENSP00000396157:A365G	A	+	2	0	SIGLEC16	55166772	0.000000	0.05858	0.000000	0.03702	0.910000	0.53928	-0.800000	0.04555	-1.793000	0.01258	0.407000	0.27541	GCA		0.597	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		6	155	0	0	0	1	0	6	155				
SLC5A2	6524	broad.mit.edu	37	16	31500498	31500498	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:31500498C>T	ENST00000330498.3	+	12	1523	c.1504C>T	c.(1504-1506)Ccc>Tcc	p.P502S	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	502					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	ACGCCTGATTCCCGAGTTCTC	0.637																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1504-1506)Ccc>Tcc		solute carrier family 5 (sodium/glucose cotransporter), member 2							65.0	57.0	60.0					16																	31500498		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500498C>T		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1504C>T	16.37:g.31500498C>T	ENSP00000327943:p.Pro502Ser						p.P502S	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			12	1523	+			502					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1504C>T	CCDS10714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.00|16.00	2.998233|2.998233	0.54147|0.54147	.|.	.|.	ENSG00000140675|ENSG00000140675	ENST00000330498|ENST00000419665	D|D	0.86230|0.87412	-2.09|-2.25	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86806|0.86806	0.6021|0.6021	L|L	0.33485|0.33485	1.01|1.01	0.58432|0.58432	D|D	0.999998|0.999998	P|.	0.42456|.	0.78|.	B|.	0.40636|.	0.335|.	D|D	0.88131|0.88131	0.2838|0.2838	10|7	0.59425|0.66056	D|D	0.04|0.02	.|.	15.0492|15.0492	0.71854|0.71854	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	502|.	P31639|.	SC5A2_HUMAN|.	S|F	502|395	ENSP00000327943:P502S|ENSP00000410601:S395F	ENSP00000327943:P502S|ENSP00000410601:S395F	P|S	+|+	1|2	0|0	SLC5A2|SLC5A2	31407999|31407999	0.000000|0.000000	0.05858|0.05858	0.565000|0.565000	0.28409|0.28409	0.902000|0.902000	0.53008|0.53008	0.345000|0.345000	0.19979|0.19979	2.403000|2.403000	0.81681|0.81681	0.561000|0.561000	0.74099|0.74099	CCC|TCC		0.637	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			6	50	0	0	0	1	0	6	50				
DDX39A	10212	broad.mit.edu	37	19	14521829	14521829	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:14521829G>A	ENST00000242776.4	-	5	686	c.585C>T	c.(583-585)gaC>gaT	p.D195D	CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000454233.2_Silent_p.D195D|DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	195	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TGTCACACTCGTCCAGCACAA	0.612																																						ENST00000242776.4																			0				NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						c.(583-585)gaC>gaT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A							68.0	64.0	65.0					19																	14521829		2203	4300	6503	SO:0001819	synonymous_variant	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14521829G>A	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.585C>T	19.37:g.14521829G>A						DDX39A_ENST00000454233.2_Silent_p.D195D|DDX39A_ENST00000592927.1_5'UTR	p.D195D	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN			5	686	-			195			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Silent	SNP	ENST00000242776.4	37	c.585C>T	CCDS12308.1																																																																																				0.612	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		16	102	0	0	0	1	0	16	102				
OPN4	94233	broad.mit.edu	37	10	88416979	88416979	+	Intron	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:88416979G>A	ENST00000241891.5	+	3	457				OPN4_ENST00000372071.2_Missense_Mutation_p.M106I	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4						phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						tcactgtgatgatgcagtaag	0.532																																						ENST00000372071.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						c.(316-318)atG>atA		opsin 4							224.0	157.0	180.0					10																	88416979		2203	4300	6503	SO:0001627	intron_variant	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88416979G>A	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.291-810G>A	10.37:g.88416979G>A						OPN4_ENST00000241891.5_Intron	p.M106I	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN			3	545	+			97					B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.318G>A	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	1.679	-0.506954	0.04231	.	.	ENSG00000122375	ENST00000372071;ENST00000443292	T;T	0.18338	2.22;2.22	2.38	0.466	0.16716	.	1.674750	0.03902	U	0.280429	T	0.07638	0.0192	N	0.04746	-0.17	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30208	-0.9986	10	0.17369	T	0.5	.	3.0181	0.06066	0.1544:0.0:0.5801:0.2654	.	106;106	C9JWU6;Q9UHM6-2	.;.	I	106	ENSP00000361141:M106I;ENSP00000393132:M106I	ENSP00000361141:M106I	M	+	3	0	OPN4	88406959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.076000	0.14712	0.115000	0.18071	-0.158000	0.13435	ATG		0.532	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		19	64	0	0	0	1	0	19	64				
SBF1	6305	broad.mit.edu	37	22	50903084	50903084	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:50903084G>A	ENST00000390679.3	-	14	1699	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	SBF1_ENST00000348911.6_Silent_p.F506F|SBF1_ENST00000380817.3_Silent_p.F505F			O95248	MTMR5_HUMAN	SET binding factor 1	505					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGCCGGGGGAAGGGTCGGG	0.682																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1513-1515)ttC>ttT		SET binding factor 1							56.0	63.0	61.0					22																	50903084		1994	4159	6153	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50903084G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1515C>T	22.37:g.50903084G>A						SBF1_ENST00000390679.3_Silent_p.F505F|SBF1_ENST00000348911.6_Silent_p.F506F	p.F505F	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	14	1698	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	505					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.1515C>T																																																																																					0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding				10	68	0	0	0	1	0	10	68				
COL4A4	1286	broad.mit.edu	37	2	227886817	227886817	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:227886817C>G	ENST00000396625.3	-	44	4370	c.4163G>C	c.(4162-4164)aGa>aCa	p.R1388T	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1385T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1388	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCTGGTCCTCTCATGCCTGG	0.547																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4162-4164)aGa>aCa		collagen, type IV, alpha 4							127.0	135.0	133.0					2																	227886817		1887	4104	5991	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227886817C>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4163G>C	2.37:g.227886817C>G	ENSP00000379866:p.Arg1388Thr					COL4A4_ENST00000329662.7_Missense_Mutation_p.R1385T	p.R1388T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	44	4370	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1388			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4163G>C	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424804	0.43020	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96940	-4.18;-4.18	5.63	5.63	0.86233	.	.	.	.	.	D	0.95557	0.8556	N	0.20685	0.6	0.46416	D	0.999035	D	0.71674	0.998	D	0.78314	0.991	D	0.92982	0.6407	9	0.14656	T	0.56	.	15.5218	0.75871	0.0:1.0:0.0:0.0	.	1388	P53420	CO4A4_HUMAN	T	1388;1385	ENSP00000379866:R1388T;ENSP00000328553:R1385T	ENSP00000328553:R1385T	R	-	2	0	COL4A4	227595061	1.000000	0.71417	0.997000	0.53966	0.618000	0.37518	3.910000	0.56371	2.802000	0.96397	0.561000	0.74099	AGA		0.547	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		55	201	0	0	0	1	0	55	201				
ZC3H18	124245	broad.mit.edu	37	16	88653065	88653065	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:88653065C>T	ENST00000301011.5	+	3	861	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R221C	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	221						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGTGAGGCCTCGTCCCACCTG	0.582																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(661-663)Cgt>Tgt		zinc finger CCCH-type containing 18							132.0	102.0	112.0					16																	88653065		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88653065C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.661C>T	16.37:g.88653065C>T	ENSP00000301011:p.Arg221Cys					ZC3H18_ENST00000452588.2_Missense_Mutation_p.R221C	p.R221C	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	3	861	+			221					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.661C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493424	0.64186	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.44881	0.91;0.93	5.03	5.03	0.67393	Zinc finger, CCCH-type (2);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.66196	0.942;0.897;0.942	T	0.62699	-0.6799	10	0.87932	D	0	-12.4307	13.3647	0.60676	0.1575:0.8425:0.0:0.0	.	221;221;221	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	C	221;221;221;104	ENSP00000301011:R221C;ENSP00000416951:R221C	ENSP00000289509:R221C	R	+	1	0	ZC3H18	87180566	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.385000	0.52485	2.350000	0.79820	0.462000	0.41574	CGT		0.582	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		14	36	0	0	0	1	0	14	36				
ZNF551	90233	broad.mit.edu	37	19	58199002	58199002	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:58199002G>A	ENST00000282296.5	+	3	1544	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	ZNF551_ENST00000356715.4_Silent_p.G437G|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	453					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGAATGTGGGAAATCCTTTA	0.433																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1357-1359)ggG>ggA		zinc finger protein 551							81.0	83.0	83.0					19																	58199002		2203	4300	6503	SO:0001819	synonymous_variant	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199002G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1359G>A	19.37:g.58199002G>A						AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Silent_p.G437G|AC003006.7_ENST00000596085.1_Intron	p.G453G	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1544	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	453					B4DU22|P17034|Q8N246|Q9BRY1	Silent	SNP	ENST00000282296.5	37	c.1359G>A	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	6.013	0.370705	0.11409	.	.	ENSG00000228006	ENST00000541705	.	.	.	2.48	-2.74	0.05932	.	0.774326	0.10831	U	0.629380	T	0.27900	0.0687	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26292	-1.0107	6	0.07990	T	0.79	.	5.0308	0.14409	0.3371:0.1593:0.5037:0.0	.	.	.	.	S	135	.	ENSP00000437781:P135S	P	-	1	0	AC004017.1	62890814	0.006000	0.16342	0.026000	0.17262	0.089000	0.18198	-1.124000	0.03260	-0.397000	0.07691	0.555000	0.69702	CCC		0.433	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		39	90	0	0	0	1	0	39	90				
KMT2D	8085	broad.mit.edu	37	12	49448120	49448120	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:49448120C>T	ENST00000301067.7	-	4	479	c.480G>A	c.(478-480)gtG>gtA	p.V160V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	160					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGCCTTGTCCACACCACATA	0.597																																						ENST00000301067.7																			0											c.(478-480)gtG>gtA		lysine (K)-specific methyltransferase 2D							48.0	48.0	48.0					12																	49448120		2023	4180	6203	SO:0001819	synonymous_variant	8085							g.chr12:49448120C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.480G>A	12.37:g.49448120C>T							p.V160V	NM_003482.3	NP_003473.3					4	479	-								O14687	Silent	SNP	ENST00000301067.7	37	c.480G>A	CCDS44873.1																																																																																				0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	11	0	0	0	1	0	4	11				
SPATA31D5P	347127	broad.mit.edu	37	9	84532813	84532813	+	RNA	SNP	C	C	T	rs372645656		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:84532813C>T	ENST00000527857.1	+	0	2835					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		ATCTTCAAATCGGAAGAGGAT	0.428													-|||	1	0.000199681	0.0008	0.0	5008	,	,		19670	0.0		0.0	False		,,,				2504	0.0					ENST00000527857.1																			0																																																			347127							g.chr9:84532813C>T			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532813C>T								NR_026851.1						0	2835	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.428	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		6	19	0	0	0	1	0	6	19				
CSMD2	114784	broad.mit.edu	37	1	34088974	34088974	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:34088974G>C	ENST00000373380.1	-	15	2557	c.2337C>G	c.(2335-2337)ttC>ttG	p.F779L	CSMD2_ENST00000373388.2_Missense_Mutation_p.F5L|CSMD2_ENST00000373377.1_Missense_Mutation_p.F5L|CSMD2_ENST00000373381.4_Missense_Mutation_p.F1906L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1866	CUB 5. {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)				GCTTACCTGAGAAACTCCCCA	0.423																																						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.(5716-5718)ttC>ttG		CUB and Sushi multiple domains 2							102.0	95.0	97.0					1																	34088974		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34088974G>C	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.2337C>G	1.37:g.34088974G>C	ENSP00000362478:p.Phe779Leu					CSMD2_ENST00000373388.2_Missense_Mutation_p.F5L|CSMD2_ENST00000373380.1_Missense_Mutation_p.F779L|CSMD2_ENST00000373377.1_Missense_Mutation_p.F5L	p.F1906L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			36	5894	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1866					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.5718C>G		.	.	.	.	.	.	.	.	.	.	G	25.2	4.618158	0.87359	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.59772	2.15;2.15;0.24;0.24	5.89	4.98	0.66077	CUB (5);	0.064020	0.64402	D	0.000005	T	0.61937	0.2387	N	0.25825	0.765	0.80722	D	1	P;D;D	0.69078	0.685;0.997;0.994	P;D;P	0.68353	0.615;0.957;0.849	T	0.59606	-0.7423	10	0.28530	T	0.3	.	14.0161	0.64525	0.0731:0.0:0.9269:0.0	.	779;1866;1906	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	L	1906;779;5;5	ENSP00000362479:F1906L;ENSP00000362478:F779L;ENSP00000362475:F5L;ENSP00000362486:F5L	ENSP00000241312:F1866L	F	-	3	2	CSMD2	33861561	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.854000	0.55949	1.504000	0.48704	-0.254000	0.11334	TTC		0.423	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		33	94	0	0	0	1	0	33	94				
CASC5	57082	broad.mit.edu	37	15	40949601	40949601	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40949601G>A	ENST00000346991.5	+	25	7111	c.6721G>A	c.(6721-6723)Gag>Aag	p.E2241K	CASC5_ENST00000399668.2_Missense_Mutation_p.E2215K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2241	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACTCCTTGGAGAGGAGATTGA	0.348																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(6721-6723)Gag>Aag		cancer susceptibility candidate 5							99.0	96.0	97.0					15																	40949601		1823	4092	5915	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40949601G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6721G>A	15.37:g.40949601G>A	ENSP00000335463:p.Glu2241Lys					CASC5_ENST00000399668.2_Missense_Mutation_p.E2215K	p.E2241K			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	25	7111	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	2241			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.6721G>A	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852476	0.91355	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.10382	2.88;2.88	5.77	5.77	0.91146	.	0.081506	0.47455	U	0.000221	T	0.31888	0.0811	M	0.61703	1.905	0.45852	D	0.998711	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.00470	-1.1720	10	0.72032	D	0.01	.	16.8999	0.86110	0.0:0.0:1.0:0.0	.	2215;2241	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	K	2241;2215	ENSP00000335463:E2241K;ENSP00000382576:E2215K	ENSP00000335463:E2241K	E	+	1	0	CASC5	38736893	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	5.535000	0.67173	2.728000	0.93425	0.650000	0.86243	GAG		0.348	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		37	136	0	0	0	1	0	37	136				
ELP2	55250	broad.mit.edu	37	18	33739932	33739932	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:33739932G>A	ENST00000358232.6	+	16	1705	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	ELP2_ENST00000423854.2_Missense_Mutation_p.E478K|ELP2_ENST00000350494.6_Missense_Mutation_p.E543K|ELP2_ENST00000351393.6_Missense_Mutation_p.E522K|ELP2_ENST00000542824.1_Missense_Mutation_p.E478K|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000442325.2_Missense_Mutation_p.E613K	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	548					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GCCTCCCACTGAGGATCATCT	0.353																																						ENST00000358232.6																			0				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						c.(1642-1644)Gag>Aag		elongator acetyltransferase complex subunit 2							90.0	89.0	89.0					18																	33739932		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33739932G>A	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1642G>A	18.37:g.33739932G>A	ENSP00000350967:p.Glu548Lys					ELP2_ENST00000442325.2_Missense_Mutation_p.E613K|ELP2_ENST00000542824.1_Missense_Mutation_p.E478K|ELP2_ENST00000423854.2_Missense_Mutation_p.E478K|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000351393.6_Missense_Mutation_p.E522K|ELP2_ENST00000350494.6_Missense_Mutation_p.E543K	p.E548K	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN			16	1705	+			548					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.1642G>A	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933671	0.92458	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.74632	-0.86;-0.66;-0.4;0.06;-0.59;-0.78	5.48	5.48	0.80851	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	H	0.94183	3.505	0.80722	D	1	P;P;D;D;D;P	0.62365	0.947;0.947;0.991;0.991;0.984;0.927	P;P;P;P;P;P	0.61070	0.78;0.78;0.849;0.792;0.883;0.492	D	0.90582	0.4530	10	0.49607	T	0.09	-16.8253	17.2061	0.86918	0.0:0.0:1.0:0.0	.	543;613;478;478;522;548	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	K	548;522;613;478;543;478	ENSP00000350967:E548K;ENSP00000257191:E522K;ENSP00000414851:E613K;ENSP00000391202:E478K;ENSP00000316051:E543K;ENSP00000443800:E478K	ENSP00000316051:E543K	E	+	1	0	ELP2	31993930	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.318000	0.96334	2.745000	0.94114	0.484000	0.47621	GAG		0.353	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		16	111	0	0	0	1	0	16	111				
KRT23	25984	broad.mit.edu	37	17	39092585	39092585	+	Missense_Mutation	SNP	G	G	A	rs373501029		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:39092585G>A	ENST00000209718.3	-	2	695	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	KRT23_ENST00000582283.1_5'Flank|KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	91	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCCAGGGCGCGAACCTTCTCC	0.557																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(271-273)Cgc>Tgc		keratin 23 (histone deacetylase inducible)							99.0	100.0	100.0					17																	39092585		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39092585G>A	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.271C>T	17.37:g.39092585G>A	ENSP00000209718:p.Arg91Cys					KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	p.R91C	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			2	695	-		Breast(137;0.000301)|Ovarian(249;0.15)	91			Coil 1A.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.271C>T	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177409	0.78564	.	.	ENSG00000108244	ENST00000209718	D	0.92595	-3.07	5.73	4.75	0.60458	Filament (1);	0.111526	0.40385	N	0.001104	D	0.96602	0.8891	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.97301	0.9931	10	0.87932	D	0	.	13.9615	0.64182	0.0:0.0:0.725:0.275	.	91	Q9C075	K1C23_HUMAN	C	91	ENSP00000209718:R91C	ENSP00000209718:R91C	R	-	1	0	KRT23	36346111	1.000000	0.71417	0.219000	0.23793	0.992000	0.81027	6.556000	0.73932	1.399000	0.46721	0.557000	0.71058	CGC		0.557	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			24	113	0	0	0	1	0	24	113				
GSX2	170825	broad.mit.edu	37	4	54967927	54967927	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:54967927G>C	ENST00000326902.2	+	2	1067	c.753G>C	c.(751-753)caG>caC	p.Q251H	AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	251					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TCTGGTTTCAGAACCGCCGAG	0.567																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(751-753)caG>caC		GS homeobox 2							101.0	106.0	104.0					4																	54967927		2203	4300	6503	SO:0001583	missense	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54967927G>C		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.753G>C	4.37:g.54967927G>C	ENSP00000319118:p.Gln251His					GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	p.Q251H	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		2	1067	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		251						Missense_Mutation	SNP	ENST00000326902.2	37	c.753G>C	CCDS3494.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756074	0.69648	.	.	ENSG00000180613	ENST00000326902	D	0.97688	-4.49	4.9	4.06	0.47325	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.060357	0.64402	D	0.000002	D	0.99342	0.9769	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97892	1.0298	10	0.87932	D	0	.	11.6864	0.51487	0.1487:0.0:0.8513:0.0	.	251	Q9BZM3	GSX2_HUMAN	H	251	ENSP00000319118:Q251H	ENSP00000319118:Q251H	Q	+	3	2	GSX2	54662684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.326000	0.52037	1.281000	0.44480	0.484000	0.47621	CAG		0.567	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		24	112	0	0	0	1	0	24	112				
LRRC23	10233	broad.mit.edu	37	12	7014885	7014885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7014885G>T	ENST00000007969.8	+	2	308	c.88G>T	c.(88-90)Gag>Tag	p.E30*	LRRC23_ENST00000433346.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000436789.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000323702.5_Nonsense_Mutation_p.E30*|LRRC23_ENST00000429740.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000443597.2_Nonsense_Mutation_p.E30*	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	30										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						agaggagggggaggactacag	0.542																																						ENST00000007969.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						c.(88-90)Gag>Tag		leucine rich repeat containing 23							57.0	62.0	61.0					12																	7014885		2203	4300	6503	SO:0001587	stop_gained	10233							g.chr12:7014885G>T	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.88G>T	12.37:g.7014885G>T	ENSP00000007969:p.Glu30*					LRRC23_ENST00000429740.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000433346.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000436789.1_Nonsense_Mutation_p.E30*|LRRC23_ENST00000443597.2_Nonsense_Mutation_p.E30*|LRRC23_ENST00000323702.5_Nonsense_Mutation_p.E30*	p.E30*	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN			2	308	+			30					A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Nonsense_Mutation	SNP	ENST00000007969.8	37	c.88G>T	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066064	0.76187	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000415834;ENST00000436789;ENST00000429740	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-8.3269	12.8742	0.57982	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	ENSP00000007969:E30X	E	+	1	0	LRRC23	6885146	1.000000	0.71417	0.999000	0.59377	0.344000	0.29017	2.867000	0.48428	2.395000	0.81488	0.561000	0.74099	GAG		0.542	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		19	55	1	0	1.33834e-09	1	1.39549e-09	19	55				
SLC25A16	8034	broad.mit.edu	37	10	70253311	70253311	+	Missense_Mutation	SNP	G	G	C	rs375565284		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:70253311G>C	ENST00000609923.1	-	5	536	c.438C>G	c.(436-438)atC>atG	p.I146M	SLC25A16_ENST00000539557.1_Missense_Mutation_p.I48M|SLC25A16_ENST00000265870.3_Intron	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	146					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						GGTAAGTACAGATAACTGCTG	0.343																																						ENST00000265870.2																			0				endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						c.(436-438)atC>atG		solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16							83.0	76.0	78.0					10																	70253311		2203	4300	6503	SO:0001583	missense	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70253311G>C	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.438C>G	10.37:g.70253311G>C	ENSP00000476815:p.Ile146Met					SLC25A16_ENST00000539557.1_Missense_Mutation_p.I48M|SLC25A16_ENST00000493963.1_5'UTR	p.I146M	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN			5	536	-			146					Q8N2U1	Missense_Mutation	SNP	ENST00000609923.1	37	c.438C>G	CCDS7280.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872515	0.51695	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	T;T	0.79554	-1.28;-1.28	5.49	2.61	0.31194	Mitochondrial carrier domain (2);	0.050377	0.85682	D	0.000000	T	0.76263	0.3963	L	0.41124	1.26	0.58432	D	0.999996	P	0.47106	0.89	P	0.52109	0.69	T	0.72074	-0.4400	10	0.34782	T	0.22	-29.3723	5.9109	0.19027	0.44:0.0:0.56:0.0	.	146	P16260	GDC_HUMAN	M	146;48	ENSP00000265870:I146M;ENSP00000443914:I48M	ENSP00000265870:I146M	I	-	3	3	SLC25A16	69923317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.372000	0.44257	1.309000	0.44985	0.563000	0.77884	ATC		0.343	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			11	55	0	0	0	1	0	11	55				
INSL6	11172	broad.mit.edu	37	9	5185354	5185354	+	Silent	SNP	C	C	T	rs146054352		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:5185354C>T	ENST00000381641.3	-	1	314	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	83					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AAGCGGTTTGCGGGCTTTCGA	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		16405	0.001		0.0	False		,,,				2504	0.0					ENST00000381641.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15						c.(247-249)ccG>ccA		insulin-like 6							114.0	124.0	121.0					9																	5185354		2203	4300	6503	SO:0001819	synonymous_variant	11172					extracellular region	hormone activity	g.chr9:5185354C>T	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.249G>A	9.37:g.5185354C>T							p.P83P	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	1	314	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	83					A0AVS0|Q9NS16	Silent	SNP	ENST00000381641.3	37	c.249G>A	CCDS6458.1																																																																																				0.527	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		8	588	0	0	0	1	0	8	588				
MRPS7	51081	broad.mit.edu	37	17	73258704	73258704	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:73258704G>A	ENST00000245539.6	+	2	437	c.210G>A	c.(208-210)aaG>aaA	p.K70K	GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000579743.1_5'Flank|MRPS7_ENST00000579002.1_Silent_p.K99K|GGA3_ENST00000538886.1_5'Flank|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000537686.1_5'Flank|MRPS7_ENST00000579761.1_Silent_p.K70K	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	70					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGCTCAAGAAGACTCAGCTCA	0.448																																						ENST00000579761.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(208-210)aaG>aaA		mitochondrial ribosomal protein S7							141.0	148.0	146.0					17																	73258704		2203	4300	6503	SO:0001819	synonymous_variant	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258704G>A	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.210G>A	17.37:g.73258704G>A						MRPS7_ENST00000579002.1_Silent_p.K99K|MRPS7_ENST00000245539.6_Silent_p.K70K	p.K70K			Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		2	437	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		70					B2R9N5|Q53GD6	Silent	SNP	ENST00000245539.6	37	c.210G>A	CCDS11718.1																																																																																				0.448	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		54	177	0	0	0	1	0	54	177				
SRSF2	6427	broad.mit.edu	37	17	74732510	74732510	+	Silent	SNP	C	C	T	rs374580410		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:74732510C>T	ENST00000392485.2	-	2	571	c.399G>A	c.(397-399)cgG>cgA	p.R133R	MFSD11_ENST00000586622.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000355954.3_5'Flank|SRSF2_ENST00000359995.5_Silent_p.R133R|MFSD11_ENST00000591864.1_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000508921.3_Silent_p.R121R	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	133	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						TGGAACGACTCCGACTCCGGG	0.697			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		0				haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(397-399)cgG>cgA		serine/arginine-rich splicing factor 2							43.0	40.0	41.0					17																	74732510		2203	4300	6503	SO:0001819	synonymous_variant	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732510C>T	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.399G>A	17.37:g.74732510C>T						MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Silent_p.R133R|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000508921.3_Silent_p.R121R	p.R133R	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	571	-			133			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Silent	SNP	ENST00000392485.2	37	c.399G>A	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822616	0.32237	.	.	ENSG00000161547	ENST00000452355	.	.	.	4.81	-1.83	0.07833	.	.	.	.	.	T	0.42921	0.1224	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22626	-1.0211	5	0.08179	T	0.78	.	12.992	0.58625	0.0:0.3609:0.5701:0.069	.	.	.	.	E	83	.	ENSP00000391278:G83E	G	-	2	0	SRSF2	72244105	0.874000	0.30092	0.720000	0.30636	0.751000	0.42716	-0.013000	0.12678	-0.192000	0.10432	-0.300000	0.09419	GGA		0.697	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		24	40	0	0	0	1	0	24	40				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659578A>G	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.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	17	0	0	0	1	0	5	17				
LRRIQ1	84125	broad.mit.edu	37	12	85441137	85441137	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85441137C>T	ENST00000393217.2	+	6	628	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	189	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AACAAACTCTCAAAGCTCAGA	0.333																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(565-567)ctC>ctT		leucine-rich repeats and IQ motif containing 1							78.0	87.0	84.0					12																	85441137		2203	4299	6502	SO:0001819	synonymous_variant	84125							g.chr12:85441137C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.567C>T	12.37:g.85441137C>T							p.L189L	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	6	628	+			189			Glu-rich.		Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.567C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	7.669	0.686499	0.14973	.	.	ENSG00000133640	ENST00000533414	.	.	.	5.08	-0.829	0.10796	.	.	.	.	.	T	0.39963	0.1098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	.	1.5236	0.02520	0.2189:0.3023:0.3106:0.1683	.	.	.	.	L	87	.	.	S	+	2	0	LRRIQ1	83965268	0.616000	0.27035	0.960000	0.40013	0.935000	0.57460	-0.463000	0.06696	-0.122000	0.11766	-0.224000	0.12420	TCA		0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		32	116	0	0	0	1	0	32	116				
PSIP1	11168	broad.mit.edu	37	9	15468728	15468728	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:15468728C>T	ENST00000380733.4	-	14	1663	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	PSIP1_ENST00000380738.4_Silent_p.L440L			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	440					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GAGATTTATTCAGCACTTGGG	0.388																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(1318-1320)ctG>ctA		PC4 and SFRS1 interacting protein 1							248.0	238.0	241.0					9																	15468728		2203	4300	6503	SO:0001819	synonymous_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15468728C>T	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1320G>A	9.37:g.15468728C>T						PSIP1_ENST00000380738.4_Silent_p.L440L	p.L440L			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	14	1663	-			440					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Silent	SNP	ENST00000380733.4	37	c.1320G>A	CCDS6479.1																																																																																				0.388	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		36	161	0	0	0	1	0	36	161				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	111	0	0	0	1	0	4	111				
BMP15	9210	broad.mit.edu	37	X	50659224	50659224	+	Missense_Mutation	SNP	A	A	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:50659224A>C	ENST00000252677.3	+	2	796	c.796A>C	c.(796-798)Acc>Ccc	p.T266P		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	266					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCTCCGGAGAACCCGACAAGC	0.463																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(796-798)Acc>Ccc		bone morphogenetic protein 15							68.0	63.0	65.0					X																	50659224		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659224A>C	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.796A>C	X.37:g.50659224A>C	ENSP00000252677:p.Thr266Pro						p.T266P	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			2	796	+	Ovarian(276;0.236)		266					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.796A>C	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	a	2.469	-0.322379	0.05350	.	.	ENSG00000130385	ENST00000252677	T	0.79653	-1.29	5.52	0.197	0.15164	Transforming growth factor-beta, C-terminal (1);	1.979650	0.02144	N	0.057396	T	0.69369	0.3103	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.43130	-0.9410	10	0.29301	T	0.29	.	1.3042	0.02085	0.379:0.1377:0.3411:0.1421	.	266	O95972	BMP15_HUMAN	P	266	ENSP00000252677:T266P	ENSP00000252677:T266P	T	+	1	0	BMP15	50675964	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.715000	0.04997	-0.135000	0.11495	0.451000	0.29950	ACC		0.463	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		15	16	0	0	0	1	0	15	16				
KIRREL	55243	broad.mit.edu	37	1	158064506	158064506	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:158064506G>C	ENST00000359209.6	+	15	1937	c.1870G>C	c.(1870-1872)Gac>Cac	p.D624H	KIRREL_ENST00000416935.2_Missense_Mutation_p.D524H|KIRREL_ENST00000368172.1_Missense_Mutation_p.D438H|KIRREL_ENST00000368173.3_Missense_Mutation_p.D640H|KIRREL_ENST00000360089.4_Missense_Mutation_p.D460H|KIRREL_ENST00000392272.2_Missense_Mutation_p.D521H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	624					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCTCTATGCTGACTACCGTGC	0.647																																						ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(1312-1314)Gac>Cac		kin of IRRE like (Drosophila)							54.0	59.0	57.0					1																	158064506		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158064506G>C	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1870G>C	1.37:g.158064506G>C	ENSP00000352138:p.Asp624His					KIRREL_ENST00000392272.2_Missense_Mutation_p.D521H|KIRREL_ENST00000416935.2_Missense_Mutation_p.D524H|KIRREL_ENST00000368173.3_Missense_Mutation_p.D640H|KIRREL_ENST00000359209.6_Missense_Mutation_p.D624H|KIRREL_ENST00000360089.4_Missense_Mutation_p.D460H	p.D438H			Q96J84	KIRR1_HUMAN			11	1324	+	all_hematologic(112;0.0378)		624			Ig-like C2-type 5.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1312G>C	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827054	0.71143	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.71103	0.39;-0.54;0.07;-0.12;-0.1;0.25	4.38	4.38	0.52667	.	0.000000	0.45867	D	0.000335	T	0.72771	0.3502	L	0.50333	1.59	0.53688	D	0.999976	P;D;D;D	0.76494	0.883;0.997;0.999;0.994	B;P;D;P	0.64042	0.367;0.781;0.921;0.707	T	0.75007	-0.3469	10	0.52906	T	0.07	-33.2076	14.4805	0.67579	0.0:0.0:1.0:0.0	.	524;460;438;624	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	H	460;640;521;624;524;438	ENSP00000353202:D460H;ENSP00000357155:D640H;ENSP00000376098:D521H;ENSP00000352138:D624H;ENSP00000389674:D524H;ENSP00000357154:D438H	ENSP00000352138:D624H	D	+	1	0	KIRREL	156331130	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.550000	0.60733	2.255000	0.74692	0.462000	0.41574	GAC		0.647	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		8	46	0	0	0	1	0	8	46				
LPCAT1	79888	broad.mit.edu	37	5	1463930	1463930	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:1463930C>T	ENST00000283415.3	-	14	1573	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	481	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GGGTACATTTCTGCAAACCTG	0.527																																						ENST00000283415.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1441-1443)Gaa>Aaa		lysophosphatidylcholine acyltransferase 1							125.0	121.0	122.0					5																	1463930		2203	4300	6503	SO:0001583	missense	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1463930C>T	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1441G>A	5.37:g.1463930C>T	ENSP00000283415:p.Glu481Lys					LPCAT1_ENST00000503252.1_5'UTR	p.E481K	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	14	1573	-			481			EF-hand 2.		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	c.1441G>A	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	C	6.366	0.435681	0.12104	.	.	ENSG00000153395	ENST00000283415	T	0.78924	-1.22	4.29	3.41	0.39046	EF-hand-like domain (1);	0.384600	0.31134	N	0.008190	T	0.67401	0.2889	L	0.58669	1.825	0.37716	D	0.924757	B	0.14438	0.01	B	0.21151	0.033	T	0.58775	-0.7577	10	0.06236	T	0.91	-12.5831	8.6931	0.34278	0.0:0.8902:0.0:0.1098	.	481	Q8NF37	PCAT1_HUMAN	K	481	ENSP00000283415:E481K	ENSP00000283415:E481K	E	-	1	0	LPCAT1	1516930	0.377000	0.25106	0.028000	0.17463	0.020000	0.10135	1.376000	0.34306	1.933000	0.56026	0.561000	0.74099	GAA		0.527	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		32	131	0	0	0	1	0	32	131				
TG	7038	broad.mit.edu	37	8	134145740	134145740	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:134145740C>T	ENST00000220616.4	+	47	8064	c.8024C>T	c.(8023-8025)tCa>tTa	p.S2675L	TG_ENST00000542445.1_Missense_Mutation_p.S1045L|TG_ENST00000377869.1_Missense_Mutation_p.S2618L|TG_ENST00000519543.1_Missense_Mutation_p.S808L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2675					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)		TATGAGTTCTCACGGAAAGTA	0.478																																						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.(8023-8025)tCa>tTa		thyroglobulin							134.0	132.0	133.0					8																	134145740		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134145740C>T	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.8024C>T	8.37:g.134145740C>T	ENSP00000220616:p.Ser2675Leu					TG_ENST00000542445.1_Missense_Mutation_p.S1045L|TG_ENST00000519543.1_Missense_Mutation_p.S808L|TG_ENST00000377869.1_Missense_Mutation_p.S2618L	p.S2675L	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)	47	8064	+	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)	2675					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.8024C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.840169	0.71488	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.69806	-0.2;-0.21;-0.43;-0.41;0.4	4.84	4.84	0.62591	Carboxylesterase, type B (1);	0.114890	0.39615	N	0.001304	T	0.76090	0.3939	L	0.45228	1.405	0.40693	D	0.982418	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.978;0.984;0.995	T	0.79485	-0.1784	10	0.87932	D	0	.	15.7848	0.78294	0.0:1.0:0.0:0.0	.	808;1045;2675	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	L	2618;1481;2675;794;1045;808;79	ENSP00000367100:S2618L;ENSP00000220616:S2675L;ENSP00000441693:S1045L;ENSP00000430430:S808L;ENSP00000430161:S79L	ENSP00000220616:S2675L	S	+	2	0	TG	134214922	0.999000	0.42202	0.939000	0.37840	0.615000	0.37417	5.250000	0.65432	2.359000	0.80004	0.561000	0.74099	TCA		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		19	70	0	0	0	1	0	19	70				
DDX3X	1654	broad.mit.edu	37	X	41205605	41205605	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:41205605G>C	ENST00000399959.2	+	13	2294	c.1439G>C	c.(1438-1440)aGa>aCa	p.R480T	DDX3X_ENST00000457138.2_Missense_Mutation_p.R464T|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	480	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CAGAGGGATAGAGAAGAGGCC	0.433										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1438-1440)aGa>aCa		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							105.0	101.0	102.0					X																	41205605		2201	4300	6501	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41205605G>C	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1439G>C	X.37:g.41205605G>C	ENSP00000382840:p.Arg480Thr	HNSCC(61;0.18)				DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.R464T|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR	p.R480T	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			13	2294	+			480			Helicase C-terminal.|Necessary for interaction with XPO1.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1439G>C	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601129	0.87055	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	D;D	0.82526	-1.62;-1.62	5.41	5.41	0.78517	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95262	0.8463	H	0.98849	4.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.985;0.985	D	0.97501	1.0060	10	0.87932	D	0	-20.8418	18.3066	0.90184	0.0:0.0:1.0:0.0	.	464;492;480	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	T	480;464	ENSP00000382840:R480T;ENSP00000392494:R464T	ENSP00000382840:R480T	R	+	2	0	DDX3X	41090549	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	9.807000	0.99171	2.262000	0.75019	0.600000	0.82982	AGA		0.433	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		25	36	0	0	0	1	0	25	36				
CAPN1	823	broad.mit.edu	37	11	64954685	64954685	+	Splice_Site	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:64954685G>A	ENST00000527323.1	+	6	999		c.e6-1		CAPN1_ENST00000533129.1_Splice_Site|CAPN1_ENST00000524773.1_Splice_Site|CAPN1_ENST00000279247.6_Splice_Site|CAPN1_ENST00000533820.1_Splice_Site			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TCTTTCTGCAGATCTCCAGCG	0.582																																						ENST00000527323.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.e6-1		calpain 1, (mu/I) large subunit							42.0	44.0	44.0					11																	64954685		2091	4203	6294	SO:0001630	splice_region_variant	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64954685G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.760-1G>A	11.37:g.64954685G>A						CAPN1_ENST00000533129.1_Splice_Site|CAPN1_ENST00000524773.1_Splice_Site|CAPN1_ENST00000279247.6_Splice_Site|CAPN1_ENST00000533820.1_Splice_Site				P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	6	999	+		Lung NSC(402;0.094)|Melanoma(852;0.16)						Q2TTR0|Q6DHV4	Splice_Site	SNP	ENST00000527323.1	37		CCDS44644.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259523	0.80246	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323;ENST00000526468	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5679	0.76309	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPN1	64711261	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.696000	0.98695	2.354000	0.79902	0.505000	0.49811	.		0.582	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1		Intron	6	16	0	0	0	1	0	6	16				
PTPRN2	5799	broad.mit.edu	37	7	157959963	157959963	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:157959963C>G	ENST00000389418.4	-	6	579	c.570G>C	c.(568-570)gaG>gaC	p.E190D	PTPRN2_ENST00000404321.2_Missense_Mutation_p.E213D|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E173D|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E152D|PTPRN2_ENST00000389413.3_Missense_Mutation_p.E190D	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	190					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGGATGCTCTCGGAGAAGC	0.622																																						ENST00000389413.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86						c.(568-570)gaG>gaC		protein tyrosine phosphatase, receptor type, N polypeptide 2							68.0	67.0	68.0					7																	157959963		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157959963C>G	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.570G>C	7.37:g.157959963C>G	ENSP00000374069:p.Glu190Asp					PTPRN2_ENST00000389418.4_Missense_Mutation_p.E190D|PTPRN2_ENST00000404321.2_Missense_Mutation_p.E213D|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E152D|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E173D	p.E190D	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	6	673	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	190					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.570G>C	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	6.760	0.509038	0.12883	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.03607	3.89;3.87;3.92;3.92;3.91	4.82	-1.29	0.09288	.	0.572470	0.13199	N	0.406104	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.11329	0.006;0.002;0.006;0.003;0.003	T	0.48958	-0.8988	10	0.10636	T	0.68	.	5.4273	0.16433	0.0:0.3762:0.32:0.3038	.	213;152;190;173;190	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	D	152;190;173;190;213	ENSP00000387114:E152D;ENSP00000374064:E190D;ENSP00000374067:E173D;ENSP00000374069:E190D;ENSP00000385464:E213D	ENSP00000374064:E190D	E	-	3	2	PTPRN2	157652724	0.000000	0.05858	0.003000	0.11579	0.099000	0.18886	-0.583000	0.05807	-0.162000	0.10964	0.555000	0.69702	GAG		0.622	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			18	32	0	0	0	1	0	18	32				
DDX3X	1654	broad.mit.edu	37	X	41205821	41205821	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:41205821G>C	ENST00000399959.2	+	14	2416	c.1561G>C	c.(1561-1563)Gat>Cat	p.D521H	DDX3X_ENST00000457138.2_Missense_Mutation_p.D505H|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	521	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTGCCAAGTGATATTGAAGA	0.363										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1561-1563)Gat>Cat		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							164.0	156.0	158.0					X																	41205821		2195	4300	6495	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41205821G>C	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1561G>C	X.37:g.41205821G>C	ENSP00000382840:p.Asp521His	HNSCC(61;0.18)				DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.D505H|DDX3X_ENST00000441189.2_Intron	p.D521H	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			14	2416	+			521			Helicase C-terminal.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1561G>C	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737466	0.89482	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.76186	-1.0;-1.0	5.22	5.22	0.72569	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	L	0.49699	1.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.99;0.995;0.995	D	0.85389	0.1124	10	0.87932	D	0	-1.2872	17.9414	0.89027	0.0:0.0:1.0:0.0	.	505;533;521	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	H	521;505	ENSP00000382840:D521H;ENSP00000392494:D505H	ENSP00000382840:D521H	D	+	1	0	DDX3X	41090765	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.810000	0.99221	2.170000	0.68504	0.600000	0.82982	GAT		0.363	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		36	62	0	0	0	1	0	36	62				
VWF	7450	broad.mit.edu	37	12	6125817	6125817	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6125817G>A	ENST00000261405.5	-	30	5430	c.5176C>T	c.(5176-5178)Cgt>Tgt	p.R1726C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1726	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.R1726S(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGAGTGAGACGAGGCCCTAAA	0.527																																						ENST00000261405.5																			1	Substitution - Missense(1)	p.R1726S(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(5176-5178)Cgt>Tgt		von Willebrand factor	Antihemophilic Factor(DB00025)						79.0	78.0	78.0					12																	6125817		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6125817G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5176C>T	12.37:g.6125817G>A	ENSP00000261405:p.Arg1726Cys						p.R1726C	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			30	5430	-			1726			VWFA 3; main binding site for collagens type I and III.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.5176C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	15.37	2.813909	0.50527	.	.	ENSG00000110799	ENST00000261405	D	0.83992	-1.79	4.31	4.31	0.51392	von Willebrand factor, type A (3);	0.665021	0.13227	N	0.403922	T	0.77405	0.4125	L	0.46157	1.445	0.80722	D	1	P	0.48640	0.913	B	0.40329	0.326	T	0.78360	-0.2234	10	0.59425	D	0.04	.	10.234	0.43273	0.0:0.2015:0.7985:0.0	.	1726	P04275	VWF_HUMAN	C	1726	ENSP00000261405:R1726C	ENSP00000261405:R1726C	R	-	1	0	VWF	5996078	0.266000	0.24112	0.966000	0.40874	0.784000	0.44337	3.000000	0.49481	2.246000	0.74042	0.555000	0.69702	CGT		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		16	73	0	0	0	1	0	16	73				
CNDP1	84735	broad.mit.edu	37	18	72250822	72250822	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:72250822C>G	ENST00000358821.3	+	11	1563	c.1335C>G	c.(1333-1335)atC>atG	p.I445M	CNDP1_ENST00000582365.1_Missense_Mutation_p.I402M	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	445						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CAGATATGATCCGGGATGGAT	0.488																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1204-1206)atC>atG		carnosine dipeptidase 1 (metallopeptidase M20 family)							157.0	139.0	145.0					18																	72250822		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72250822C>G		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1335C>G	18.37:g.72250822C>G	ENSP00000351682:p.Ile445Met					CNDP1_ENST00000358821.3_Missense_Mutation_p.I445M	p.I402M			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	10	1272	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	445					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1206C>G	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528476	0.64860	.	.	ENSG00000150656	ENST00000358821	T	0.53423	0.62	5.62	3.75	0.43078	.	0.097035	0.64402	N	0.000001	T	0.70369	0.3216	M	0.86740	2.835	0.44439	D	0.997365	D	0.89917	1.0	D	0.87578	0.998	T	0.75855	-0.3170	10	0.87932	D	0	-18.997	11.7929	0.52080	0.1382:0.7289:0.1329:0.0	.	445	Q96KN2	CNDP1_HUMAN	M	445	ENSP00000351682:I445M	ENSP00000351682:I445M	I	+	3	3	CNDP1	70401802	0.951000	0.32395	1.000000	0.80357	0.973000	0.67179	0.110000	0.15437	1.341000	0.45600	0.655000	0.94253	ATC		0.488	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		23	118	0	0	0	1	0	23	118				
CELSR2	1952	broad.mit.edu	37	1	109812412	109812412	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:109812412C>T	ENST00000271332.3	+	22	7138	c.7077C>T	c.(7075-7077)ttC>ttT	p.F2359F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2359	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.F2359F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGACGAGCTTCGCTGTGCTCA	0.662																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			1	Substitution - coding silent(1)	p.F2359F(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(7075-7077)ttC>ttT		cadherin, EGF LAG seven-pass G-type receptor 2							105.0	110.0	108.0					1																	109812412		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109812412C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7077C>T	1.37:g.109812412C>T							p.F2359F	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	22	7138	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2359			GPS.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.7077C>T	CCDS796.1																																																																																				0.662	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		54	157	0	0	0	1	0	54	157				
NOTCH2	4853	broad.mit.edu	37	1	120479962	120479962	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:120479962G>A	ENST00000256646.2	-	21	3684	c.3465C>T	c.(3463-3465)tcC>tcT	p.S1155S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1155	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAGGGGTTGGACGCACACT	0.562			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(3463-3465)tcC>tcT		notch 2							144.0	119.0	127.0					1																	120479962		2203	4300	6503	SO:0001819	synonymous_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120479962G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3465C>T	1.37:g.120479962G>A							p.S1155S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	3684	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1155			EGF-like 30; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	c.3465C>T	CCDS908.1																																																																																				0.562	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		23	84	0	0	0	1	0	23	84				
PDE4C	5143	broad.mit.edu	37	19	18331312	18331312	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:18331312C>T	ENST00000355502.3	-	10	1480	c.609G>A	c.(607-609)caG>caA	p.Q203Q	PDE4C_ENST00000447275.3_Silent_p.Q97Q|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594465.3_Silent_p.Q203Q|PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000594617.3_Silent_p.Q203Q|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000262805.12_Silent_p.Q171Q|PDE4C_ENST00000539010.1_5'UTR			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	203					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ATGCCAGCTTCTGCCCCGTGT	0.662																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(607-609)caG>caA		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						76.0	55.0	62.0					19																	18331312		2203	4300	6503	SO:0001819	synonymous_variant	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18331312C>T		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.609G>A	19.37:g.18331312C>T						PDE4C_ENST00000594465.2_Silent_p.Q203Q|PDE4C_ENST00000262805.11_Silent_p.Q171Q|PDE4C_ENST00000594617.2_Silent_p.Q203Q|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000539010.1_5'UTR|PDE4C_ENST00000447275.2_Silent_p.Q97Q	p.Q203Q			Q08493	PDE4C_HUMAN			10	1480	-			203					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Silent	SNP	ENST00000355502.3	37	c.609G>A	CCDS12373.1																																																																																				0.662	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			6	40	0	0	0	1	0	6	40				
BTBD3	22903	broad.mit.edu	37	20	11899749	11899749	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:11899749C>T	ENST00000405977.1	+	3	967	c.342C>T	c.(340-342)ttC>ttT	p.F114F	BTBD3_ENST00000399006.2_Silent_p.F53F|BTBD3_ENST00000254977.3_Silent_p.F53F|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_Silent_p.F114F	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	114					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CGATGATGTTCAATAATGATT	0.438																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(340-342)ttC>ttT		BTB (POZ) domain containing 3							124.0	109.0	114.0					20																	11899749		2203	4300	6503	SO:0001819	synonymous_variant	22903							g.chr20:11899749C>T	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.342C>T	20.37:g.11899749C>T						BTBD3_ENST00000378226.2_Silent_p.F114F|BTBD3_ENST00000254977.3_Silent_p.F53F|BTBD3_ENST00000399006.2_Silent_p.F53F	p.F114F			Q9Y2F9	BTBD3_HUMAN			3	967	+			114					D3DW19|Q5JY73	Silent	SNP	ENST00000405977.1	37	c.342C>T	CCDS13113.1																																																																																				0.438	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			9	39	0	0	0	1	0	9	39				
ATP2B2	491	broad.mit.edu	37	3	10452365	10452365	+	Missense_Mutation	SNP	C	C	G	rs41293357		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:10452365C>G	ENST00000352432.4	-	2	403	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	ATP2B2_ENST00000360273.2_Missense_Mutation_p.E112Q|ATP2B2_ENST00000397077.1_Missense_Mutation_p.E112Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E112Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E112Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	112					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCGGCAATCTCCAGGATGATG	0.572																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(334-336)Gag>Cag		ATPase, Ca++ transporting, plasma membrane 2							182.0	191.0	188.0					3																	10452365		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452365C>G	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.334G>C	3.37:g.10452365C>G	ENSP00000324172:p.Glu112Gln					ATP2B2_ENST00000352432.4_Missense_Mutation_p.E112Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E112Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E112Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E112Q	p.E112Q			Q01814	AT2B2_HUMAN			5	909	-			112					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.334G>C	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881098	0.91740	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000342354	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.66	5.66	0.87406	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	M	0.84948	2.725	0.80722	D	1	D;P;P	0.76494	0.999;0.768;0.902	D;B;P	0.81914	0.995;0.326;0.702	D	0.88560	0.3122	10	0.40728	T	0.16	-30.0998	19.7543	0.96284	0.0:1.0:0.0:0.0	.	112;124;112	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	Q	112;112;112;112;112;78;112	ENSP00000324172:E112Q;ENSP00000373311:E112Q;ENSP00000380267:E112Q;ENSP00000353414:E112Q;ENSP00000344677:E112Q	ENSP00000342954:E112Q	E	-	1	0	ATP2B2	10427365	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.680000	0.91292	0.561000	0.74099	GAG		0.572	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		48	209	0	0	0	1	0	48	209				
PDE6A	5145	broad.mit.edu	37	5	149277943	149277943	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:149277943C>T	ENST00000255266.5	-	10	1509	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	464					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TTCTGAATTTCTTCATTGTCA	0.348																																						ENST00000255266.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(1390-1392)Gaa>Aaa		phosphodiesterase 6A, cGMP-specific, rod, alpha							147.0	148.0	147.0					5																	149277943		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149277943C>T		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1390G>A	5.37:g.149277943C>T	ENSP00000255266:p.Glu464Lys						p.E464K	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		10	1509	-			464					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1390G>A	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005977	0.93287	.	.	ENSG00000132915	ENST00000255266	T	0.65916	-0.18	5.73	5.73	0.89815	.	0.352796	0.34555	N	0.003868	T	0.82181	0.4981	M	0.89478	3.035	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.84861	0.0819	10	0.87932	D	0	.	17.7521	0.88438	0.0:1.0:0.0:0.0	.	464	P16499	PDE6A_HUMAN	K	464	ENSP00000255266:E464K	ENSP00000255266:E464K	E	-	1	0	PDE6A	149258136	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.427000	0.80284	2.868000	0.98415	0.555000	0.69702	GAA		0.348	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			24	87	0	0	0	1	0	24	87				
RANBP6	26953	broad.mit.edu	37	9	6013702	6013702	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:6013702C>T	ENST00000259569.5	-	1	1916	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	636					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATAAGAGGCTCGATAACCAGT	0.413																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1906-1908)Gag>Aag		RAN binding protein 6							108.0	110.0	110.0					9																	6013702		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6013702C>T	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1906G>A	9.37:g.6013702C>T	ENSP00000259569:p.Glu636Lys					RANBP6_ENST00000485372.1_5'UTR	p.E636K	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	1916	-		Acute lymphoblastic leukemia(23;0.158)	636					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.1906G>A	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142499	0.37825	.	.	ENSG00000137040	ENST00000259569	T	0.68903	-0.36	4.11	4.11	0.48088	Armadillo-like helical (1);Armadillo-type fold (1);	0.055231	0.64402	U	0.000001	T	0.51295	0.1666	N	0.25647	0.755	0.42064	D	0.991173	B;B	0.26318	0.084;0.146	B;B	0.14578	0.007;0.011	T	0.50980	-0.8763	10	0.31617	T	0.26	-9.5883	14.2719	0.66157	0.0:1.0:0.0:0.0	.	224;636	B4DTX6;O60518	.;RNBP6_HUMAN	K	636	ENSP00000259569:E636K	ENSP00000259569:E636K	E	-	1	0	RANBP6	6003702	1.000000	0.71417	0.991000	0.47740	0.906000	0.53458	5.675000	0.68123	2.293000	0.77203	0.650000	0.86243	GAG		0.413	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		40	452	0	0	0	1	0	40	452				
CLIC1	1192	broad.mit.edu	37	6	31701346	31701346	+	Missense_Mutation	SNP	C	C	T	rs151146724		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:31701346C>T	ENST00000375780.2	-	5	951	c.379G>A	c.(379-381)Gac>Aac	p.D127N	DDAH2_ENST00000375792.3_5'Flank|CLIC1_ENST00000375779.2_Missense_Mutation_p.D127N|CLIC1_ENST00000395892.1_Missense_Mutation_p.D127N|CLIC1_ENST00000375784.3_Missense_Mutation_p.D127N			O00299	CLIC1_HUMAN	chloride intracellular channel 1	127	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GACTCACTGTCATTGAGTGCT	0.537																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(379-381)Gac>Aac		chloride intracellular channel 1		C	ASN/ASP	0,3020		0,0,1510	45.0	48.0	47.0		379	5.3	1.0	6	dbSNP_134	47	1,5415		0,1,2707	no	missense	CLIC1	NM_001288.4	23	0,1,4217	TT,TC,CC		0.0185,0.0,0.0119	benign	127/242	31701346	1,8435	1510	2708	4218	SO:0001583	missense	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31701346C>T	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.379G>A	6.37:g.31701346C>T	ENSP00000364935:p.Asp127Asn					CLIC1_ENST00000395892.1_Missense_Mutation_p.D127N|CLIC1_ENST00000375779.2_Missense_Mutation_p.D127N|CLIC1_ENST00000375784.3_Missense_Mutation_p.D127N	p.D127N			O00299	CLIC1_HUMAN			5	951	-			127			GST C-terminal.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.379G>A	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276766	0.59758	0.0	1.85E-4	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	5.35	5.35	0.76521	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.267267	0.28742	U	0.014296	D	0.87265	0.6134	L	0.50993	1.605	0.53005	D	0.999968	B	0.17038	0.02	B	0.20767	0.031	D	0.85343	0.1097	10	0.52906	T	0.07	.	12.3272	0.55018	0.0:0.8297:0.1703:0.0	.	127	O00299	CLIC1_HUMAN	N	127	ENSP00000364940:D127N;ENSP00000364934:D127N;ENSP00000364935:D127N;ENSP00000379229:D127N	ENSP00000364934:D127N	D	-	1	0	CLIC1	31809325	0.997000	0.39634	0.998000	0.56505	0.816000	0.46133	2.100000	0.41777	2.504000	0.84457	0.557000	0.71058	GAC		0.537	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		4	31	0	0	0	1	0	4	31				
TNRC6C	57690	broad.mit.edu	37	17	76060974	76060974	+	Missense_Mutation	SNP	G	G	A	rs62078559		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:76060974G>A	ENST00000588061.1	+	6	3294	c.2567G>A	c.(2566-2568)gGa>gAa	p.G856E	TNRC6C_ENST00000588847.1_Missense_Mutation_p.G853E|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G856E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G856E|TNRC6C_ENST00000335749.4_Missense_Mutation_p.G853E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G853E			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	856	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTGGCATTTGGAAGAGCTGGC	0.582																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(2557-2559)gGa>gAa		trinucleotide repeat containing 6C							18.0	22.0	21.0					17																	76060974		1953	4154	6107	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76060974G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2567G>A	17.37:g.76060974G>A	ENSP00000468647:p.Gly856Glu					TNRC6C_ENST00000544502.1_Missense_Mutation_p.G853E|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G856E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G856E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G853E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G856E	p.G853E	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	3127	+			856			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.2558G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875226	0.51695	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.66	3.53	0.40419	Argonaute hook domain (1);	0.231226	0.43260	D	0.000599	T	0.65439	0.2691	M	0.76328	2.33	0.50313	D	0.99986	P;D;D	0.59767	0.953;0.973;0.986	P;P;D	0.66351	0.725;0.725;0.943	T	0.66582	-0.5887	10	0.31617	T	0.26	-3.82	15.7243	0.77743	0.0:0.2586:0.7414:0.0	rs62078559	853;856;856	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	E	856;853;853;856;856;853	ENSP00000336783:G853E;ENSP00000301624:G856E;ENSP00000440310:G856E;ENSP00000442421:G853E	ENSP00000301624:G856E	G	+	2	0	TNRC6C	73572569	1.000000	0.71417	0.174000	0.22961	0.062000	0.15995	2.855000	0.48333	1.362000	0.46000	0.655000	0.94253	GGA		0.582	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		5	26	0	0	0	1	0	5	26				
NUP54	53371	broad.mit.edu	37	4	77053825	77053825	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:77053825G>C	ENST00000264883.3	-	6	898	c.758C>G	c.(757-759)tCa>tGa	p.S253*	NUP54_ENST00000515460.1_5'Flank|NUP54_ENST00000514987.1_Nonsense_Mutation_p.S205*|NUP54_ENST00000342467.6_Nonsense_Mutation_p.S73*|NUP54_ENST00000458189.2_Nonsense_Mutation_p.S73*	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	253	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AACTCTTCTTGAAGTACCATT	0.373																																						ENST00000264883.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(757-759)tCa>tGa		nucleoporin 54kDa							152.0	139.0	143.0					4																	77053825		2203	4300	6503	SO:0001587	stop_gained	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77053825G>C	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.758C>G	4.37:g.77053825G>C	ENSP00000264883:p.Ser253*					NUP54_ENST00000342467.6_Nonsense_Mutation_p.S73*|NUP54_ENST00000458189.2_Nonsense_Mutation_p.S73*|NUP54_ENST00000514987.1_Nonsense_Mutation_p.S205*	p.S253*	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN			6	898	-			253			9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Nonsense_Mutation	SNP	ENST00000264883.3	37	c.758C>G	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528693	0.96446	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-2.1439	19.3123	0.94195	0.0:0.0:1.0:0.0	.	.	.	.	X	253;73;205;73	.	ENSP00000264883:S253X	S	-	2	0	NUP54	77272849	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.336000	0.96533	2.581000	0.87130	0.650000	0.86243	TCA		0.373	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			27	90	0	0	0	1	0	27	90				
TFB2M	64216	broad.mit.edu	37	1	246727680	246727680	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:246727680C>T	ENST00000366514.4	-	2	555	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	TFB2M_ENST00000544618.1_Missense_Mutation_p.E124K|CNST_ENST00000366513.4_5'Flank|CNST_ENST00000366512.3_5'Flank	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	124					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTGTCACTTTCGAGCGCAACC	0.378																																						ENST00000366514.4																			0				breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(370-372)Gaa>Aaa		transcription factor B2, mitochondrial							86.0	80.0	82.0					1																	246727680		2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246727680C>T	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.370G>A	1.37:g.246727680C>T	ENSP00000355471:p.Glu124Lys					TFB2M_ENST00000544618.1_Missense_Mutation_p.E124K	p.E124K	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		2	555	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		124					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.370G>A	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196615	0.94960	.	.	ENSG00000162851	ENST00000366514;ENST00000544618	T;T	0.54479	0.57;0.57	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	M	0.86268	2.805	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.79960	-0.1583	10	0.87932	D	0	-32.6459	18.4771	0.90797	0.0:1.0:0.0:0.0	.	124	Q9H5Q4	TFB2M_HUMAN	K	124	ENSP00000355471:E124K;ENSP00000442426:E124K	ENSP00000355471:E124K	E	-	1	0	TFB2M	244794303	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.046000	0.57376	2.721000	0.93114	0.655000	0.94253	GAA		0.378	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		13	58	0	0	0	1	0	13	58				
NETO1	81832	broad.mit.edu	37	18	70417497	70417497	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:70417497G>A	ENST00000327305.6	-	9	1998	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	NETO1_ENST00000299430.2_Silent_p.L446L|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Silent_p.L447L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	447					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTCTTGTGCTGAGGTTACTGC	0.463																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1339-1341)ctC>ctT		neuropilin (NRP) and tolloid (TLL)-like 1							162.0	146.0	151.0					18																	70417497		2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417497G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1341C>T	18.37:g.70417497G>A						NETO1_ENST00000299430.2_Silent_p.L446L|NETO1_ENST00000583169.1_Silent_p.L447L	p.L447L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1998	-		Esophageal squamous(42;0.129)	447					Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.1341C>T	CCDS12000.1																																																																																				0.463	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		38	63	0	0	0	1	0	38	63				
SLC5A2	6524	broad.mit.edu	37	16	31500538	31500538	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:31500538C>T	ENST00000330498.3	+	12	1563	c.1544C>T	c.(1543-1545)tCg>tTg	p.S515L	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	515					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GTGCAGCCCTCGGCGTGCCCA	0.652																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1543-1545)tCg>tTg		solute carrier family 5 (sodium/glucose cotransporter), member 2							94.0	64.0	74.0					16																	31500538		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500538C>T		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1544C>T	16.37:g.31500538C>T	ENSP00000327943:p.Ser515Leu						p.S515L	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			12	1563	+			515					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1544C>T	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139305	0.56936	.	.	ENSG00000140675	ENST00000330498	T	0.76839	-1.05	4.78	4.78	0.61160	.	0.142736	0.48286	D	0.000186	D	0.87103	0.6094	M	0.82323	2.585	0.52099	D	0.999945	D	0.89917	1.0	D	0.79108	0.992	D	0.87852	0.2658	10	0.62326	D	0.03	.	10.4133	0.44307	0.1946:0.8054:0.0:0.0	.	515	P31639	SC5A2_HUMAN	L	515	ENSP00000327943:S515L	ENSP00000327943:S515L	S	+	2	0	SLC5A2	31408039	0.000000	0.05858	0.939000	0.37840	0.151000	0.21798	0.400000	0.20932	2.491000	0.84063	0.561000	0.74099	TCG		0.652	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			11	39	0	0	0	1	0	11	39				
TCERG1	10915	broad.mit.edu	37	5	145834750	145834750	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:145834750G>A	ENST00000296702.5	+	2	229	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	TCERG1_ENST00000394421.2_Missense_Mutation_p.R64Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	64	Pro-rich.				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)			CCACCACCACGGCCGCCCTTT	0.607																																						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.(190-192)cGg>cAg		transcription elongation regulator 1							122.0	124.0	123.0					5																	145834750		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.chr5:145834750G>A	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.191G>A	5.37:g.145834750G>A	ENSP00000296702:p.Arg64Gln					TCERG1_ENST00000394421.2_Missense_Mutation_p.R64Q	p.R64Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	229	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	64			Pro-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.191G>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948355	0.73787	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.23754	1.91;1.89	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	L	0.29908	0.895	0.58432	D	0.999994	D;D;D	0.69078	0.997;0.997;0.994	D;D;P	0.70227	0.968;0.947;0.885	T	0.02852	-1.1102	10	0.27082	T	0.32	-16.8902	18.9789	0.92748	0.0:0.0:1.0:0.0	.	64;64;64	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	Q	64	ENSP00000296702:R64Q;ENSP00000377943:R64Q	ENSP00000296702:R64Q	R	+	2	0	TCERG1	145814943	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	9.124000	0.94394	2.814000	0.96858	0.563000	0.77884	CGG		0.607	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		19	99	0	0	0	1	0	19	99				
CNTLN	54875	broad.mit.edu	37	9	17332671	17332671	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:17332671G>C	ENST00000380647.3	+	10	1671	c.1587G>C	c.(1585-1587)caG>caC	p.Q529H	CNTLN_ENST00000262360.5_Missense_Mutation_p.Q529H|CNTLN_ENST00000425824.1_Missense_Mutation_p.Q529H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	529					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAGCTACAGAAGCTGAGAA	0.383																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1585-1587)caG>caC		centlein, centrosomal protein							74.0	70.0	71.0					9																	17332671		1836	4082	5918	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17332671G>C	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1587G>C	9.37:g.17332671G>C	ENSP00000370021:p.Gln529His					CNTLN_ENST00000425824.1_Missense_Mutation_p.Q529H|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q529H	p.Q529H			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	10	1671	+			529					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1587G>C	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298066	0.23650	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.11277	2.79;2.79;2.79	5.54	4.64	0.57946	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.18873	N	0.999986	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.09377	0.004;0.004;0.004	T	0.32561	-0.9902	9	0.40728	T	0.16	.	13.9419	0.64059	0.0742:0.0:0.9258:0.0	.	529;529;529	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	H	529	ENSP00000370021:Q529H;ENSP00000392798:Q529H;ENSP00000262360:Q529H	ENSP00000262360:Q529H	Q	+	3	2	CNTLN	17322671	1.000000	0.71417	0.973000	0.42090	0.739000	0.42172	3.248000	0.51430	1.326000	0.45319	0.591000	0.81541	CAG		0.383	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		30	79	0	0	0	1	0	30	79				
OXSR1	9943	broad.mit.edu	37	3	38287675	38287675	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:38287675C>A	ENST00000446845.1	+	13	1592	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y	OXSR1_ENST00000311806.3_Missense_Mutation_p.S407Y					oxidative stress responsive 1									p.S407C(1)		skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACTCAAGTCTCTCTCCCACCC	0.493																																						ENST00000311806.3																			1	Substitution - Missense(1)	p.S407C(1)	upper_aerodigestive_tract(1)	skin(1)	1						c.(1219-1221)tCt>tAt		oxidative stress responsive 1							121.0	111.0	115.0					3																	38287675		2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38287675C>A	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.1220C>A	3.37:g.38287675C>A	ENSP00000415851:p.Ser407Tyr					OXSR1_ENST00000446845.1_Missense_Mutation_p.S407Y	p.S407Y	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	13	1592	+			407						Missense_Mutation	SNP	ENST00000446845.1	37	c.1220C>A		.	.	.	.	.	.	.	.	.	.	C	15.23	2.772324	0.49680	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.72942	-0.7;-0.65	5.72	2.97	0.34412	.	0.813450	0.11632	N	0.544668	T	0.57213	0.2038	L	0.29908	0.895	0.27904	N	0.938857	B	0.33448	0.412	B	0.31614	0.133	T	0.50939	-0.8768	10	0.62326	D	0.03	-5.0614	8.7061	0.34356	0.0:0.7378:0.1252:0.137	.	407	O95747	OXSR1_HUMAN	Y	407	ENSP00000415851:S407Y;ENSP00000311713:S407Y	ENSP00000311713:S407Y	S	+	2	0	OXSR1	38262679	0.995000	0.38212	0.836000	0.33094	0.988000	0.76386	2.303000	0.43646	0.442000	0.26555	0.650000	0.86243	TCT		0.493	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109		11	59	1	0	6.40141e-05	1	6.49751e-05	11	59				
DFNB59	494513	broad.mit.edu	37	2	179325777	179325777	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:179325777G>A	ENST00000409117.3	+	7	1191	c.835G>A	c.(835-837)Gac>Aac	p.D279N	DFNB59_ENST00000375129.4_Missense_Mutation_p.D279N	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	279					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TGACTACTATGACAAACCTCT	0.378																																						ENST00000409117.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18						c.(835-837)Gac>Aac		deafness, autosomal recessive 59							221.0	198.0	205.0					2																	179325777		1862	4108	5970	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179325777G>A	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.835G>A	2.37:g.179325777G>A	ENSP00000386647:p.Asp279Asn					DFNB59_ENST00000375129.4_Missense_Mutation_p.D279N	p.D279N	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		7	1191	+			279					A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.835G>A	CCDS42787.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035860	0.75617	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	T;T	0.59906	0.23;0.23	6.04	5.17	0.71159	.	0.127072	0.37095	U	0.002253	T	0.43366	0.1244	N	0.14661	0.345	0.45005	D	0.998026	B	0.02656	0.0	B	0.01281	0.0	T	0.33803	-0.9854	10	0.72032	D	0.01	-3.2147	15.5397	0.76031	0.0661:0.0:0.9339:0.0	.	279	Q0ZLH3	PJVK_HUMAN	N	279	ENSP00000386647:D279N;ENSP00000364271:D279N	ENSP00000364271:D279N	D	+	1	0	DFNB59	179034023	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	1.568000	0.49683	0.563000	0.77884	GAC		0.378	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			32	160	0	0	0	1	0	32	160				
ANGPT4	51378	broad.mit.edu	37	20	869080	869080	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:869080G>A	ENST00000381922.3	-	3	570	c.468C>T	c.(466-468)ctC>ctT	p.L156L	ANGPT4_ENST00000546022.1_Silent_p.L156L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	156					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)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTGGTTCAGGAGCTGCCCCA	0.597																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(466-468)ctC>ctT		angiopoietin 4							66.0	61.0	62.0					20																	869080		2203	4300	6503	SO:0001819	synonymous_variant	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.chr20:869080G>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.468C>T	20.37:g.869080G>A						ANGPT4_ENST00000546022.1_Silent_p.L156L	p.L156L	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			3	570	-			156					B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.468C>T	CCDS13009.1																																																																																				0.597	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		14	59	0	0	0	1	0	14	59				
DIDO1	11083	broad.mit.edu	37	20	61513653	61513653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:61513653G>A	ENST00000266070.4	-	16	3980	c.3655C>T	c.(3655-3657)Caa>Taa	p.Q1219*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1219*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1219					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTTCCGGTTGAAGTCGGGTC	0.512																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3655-3657)Caa>Taa		death inducer-obliterator 1							98.0	105.0	103.0					20																	61513653		2203	4300	6503	SO:0001587	stop_gained	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513653G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3655C>T	20.37:g.61513653G>A	ENSP00000266070:p.Gln1219*					DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1219*	p.Q1219*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	3980	-	Breast(26;5.68e-08)		1219					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	c.3655C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	43	10.497085	0.99416	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	5.74	5.74	0.90152	.	0.000000	0.41396	D	0.000887	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-8.5479	15.7454	0.77936	0.0:0.1358:0.8642:0.0	.	.	.	.	X	1219	.	ENSP00000266070:Q1219X	Q	-	1	0	DIDO1	60984098	0.987000	0.35691	0.008000	0.14137	0.003000	0.03518	4.849000	0.62882	2.873000	0.98535	0.563000	0.77884	CAA		0.512	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		40	140	0	0	0	1	0	40	140				
ZNF630	57232	broad.mit.edu	37	X	47920202	47920202	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:47920202G>A	ENST00000409324.3	-	3	364	c.138C>T	c.(136-138)tcC>tcT	p.S46S	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_5'UTR|ZNF630_ENST00000442455.3_Silent_p.S32S	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	46	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCTTACCCACGGAGACCAGGT	0.473																																						ENST00000442455.3																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(94-96)tcC>tcT		zinc finger protein 630							68.0	52.0	57.0					X																	47920202		1557	3570	5127	SO:0001819	synonymous_variant	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47920202G>A	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.138C>T	X.37:g.47920202G>A						ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Silent_p.S46S|ZNF630_ENST00000276054.4_5'UTR	p.S32S	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN			3	439	-			46			KRAB.		F8WAG4|Q5H8Z5	Silent	SNP	ENST00000409324.3	37	c.96C>T	CCDS35237.2																																																																																				0.473	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		15	10	0	0	0	1	0	15	10				
TMEM223	79064	broad.mit.edu	37	11	62559355	62559355	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62559355C>G	ENST00000307366.7	-	1	138	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	NXF1_ENST00000533048.1_5'Flank|TMEM223_ENST00000527073.1_5'Flank|TMEM223_ENST00000525631.1_Missense_Mutation_p.E38Q	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	38						integral component of membrane (GO:0016021)											CGATCATGCTCAAAGAGCAGC	0.692																																						ENST00000307366.7																			0											c.(112-114)Gag>Cag		transmembrane protein 223							19.0	27.0	24.0					11																	62559355		1981	4148	6129	SO:0001583	missense	79064					integral to membrane		g.chr11:62559355C>G		CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.112G>C	11.37:g.62559355C>G	ENSP00000303987:p.Glu38Gln					TMEM223_ENST00000525631.1_Missense_Mutation_p.E38Q	p.E38Q	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN			1	138	-			38					Q504S0|Q86YD4|Q8WUC5|Q96HG0	Missense_Mutation	SNP	ENST00000307366.7	37	c.112G>C	CCDS44628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.715946|1.715946	0.30413|0.30413	.|.	.|.	ENSG00000168569|ENSG00000168569	ENST00000525631;ENST00000307366|ENST00000528367	T;T|.	0.45276|.	0.9;0.9|.	5.94|5.94	0.624|0.624	0.17659|0.17659	.|.	0.532156|.	0.19758|.	N|.	0.106733|.	T|.	0.61185|.	0.2327|.	M|M	0.66939|0.66939	2.045|2.045	0.39210|0.39210	D|D	0.963307|0.963307	B|.	0.27166|.	0.17|.	B|.	0.26202|.	0.067|.	T|.	0.57619|.	-0.7780|.	9|.	.|.	.|.	.|.	-7.0937|-7.0937	8.8942|8.8942	0.35453|0.35453	0.0:0.4681:0.3939:0.138|0.0:0.4681:0.3939:0.138	.|.	38|.	A0PJW6|.	TM223_HUMAN|.	Q|S	38|37	ENSP00000436670:E38Q;ENSP00000303987:E38Q|.	.|.	E|X	-|-	1|2	0|2	TMEM223|TMEM223	62315931|62315931	0.764000|0.764000	0.28473|0.28473	0.906000|0.906000	0.35671|0.35671	0.102000|0.102000	0.19082|0.19082	-0.154000|-0.154000	0.10130|0.10130	-0.122000|-0.122000	0.11766|0.11766	-0.291000|-0.291000	0.09656|0.09656	GAG|TGA		0.692	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395674.1			5	10	0	0	0	1	0	5	10				
SPSB2	84727	broad.mit.edu	37	12	6981332	6981332	+	Intron	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6981332G>A	ENST00000524270.1	-	2	851				RPL13P5_ENST00000412023.1_RNA|LRRC23_ENST00000433346.1_5'Flank|SPSB2_ENST00000523102.1_Intron|SPSB2_ENST00000519357.1_Missense_Mutation_p.S245F	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCTCTTGTCAGAAGAGTTTCC	0.552											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519357.1																			0				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(733-735)tCt>tTt		splA/ryanodine receptor domain and SOCS box containing 2																																				SO:0001627	intron_variant	84727				intracellular signal transduction	cytoplasm	protein binding	g.chr12:6981332G>A	AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.664+69C>T	12.37:g.6981332G>A			OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	SPSB2_ENST00000523102.1_Intron|SPSB2_ENST00000524270.1_Intron	p.S245F			Q99619	SPSB2_HUMAN			2	920	-			96			SOCS box.		B7Z4W1|D3DUT0	Missense_Mutation	SNP	ENST00000524270.1	37	c.734C>T	CCDS8567.1	.	.	.	.	.	.	.	.	.	.	G	8.080	0.772208	0.16051	.	.	ENSG00000111671	ENST00000519357	T	0.51817	0.69	2.02	-1.15	0.09709	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.09310	N	1	B	0.20368	0.044	B	0.21917	0.037	T	0.21348	-1.0248	8	0.18710	T	0.47	.	2.2348	0.04005	0.3153:0.0:0.442:0.2427	.	245	B7Z4W1	.	F	245	ENSP00000431037:S245F	ENSP00000431037:S245F	S	-	2	0	SPSB2	6851593	0.010000	0.17322	0.000000	0.03702	0.013000	0.08279	0.601000	0.24119	-0.354000	0.08212	-1.090000	0.02178	TCT		0.552	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1	NM_032641		21	57	0	0	0	1	0	21	57				
OR5D16	390144	broad.mit.edu	37	11	55606517	55606517	+	Nonsense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:55606517C>G	ENST00000378396.1	+	1	290	c.290C>G	c.(289-291)tCa>tGa	p.S97*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	97						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(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATTTCATTCTCAGGATGTTTG	0.418																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(289-291)tCa>tGa		olfactory receptor, family 5, subfamily D, member 16							181.0	178.0	179.0					11																	55606517		2201	4296	6497	SO:0001587	stop_gained	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606517C>G	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.290C>G	11.37:g.55606517C>G	ENSP00000367649:p.Ser97*						p.S97*	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	290	+		all_epithelial(135;0.208)	97					Q6IF65|Q96RB4	Nonsense_Mutation	SNP	ENST00000378396.1	37	c.290C>G	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.247149	0.39697	.	.	ENSG00000205029	ENST00000378396	.	.	.	4.15	-4.81	0.03180	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	2.619	2.7586	0.05300	0.1123:0.3984:0.1108:0.3786	.	.	.	.	X	97	.	ENSP00000367649:S97X	S	+	2	0	OR5D16	55363093	0.000000	0.05858	0.007000	0.13788	0.944000	0.59088	-5.739000	0.00101	-0.538000	0.06281	0.530000	0.56133	TCA		0.418	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		55	203	0	0	0	1	0	55	203				
NSUN6	221078	broad.mit.edu	37	10	18903502	18903502	+	Silent	SNP	A	A	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:18903502A>T	ENST00000377304.4	-	5	880	c.462T>A	c.(460-462)atT>atA	p.I154I		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	154	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ATTTTCCTTTAATATCAGAGT	0.328																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(460-462)atT>atA		NOP2/Sun domain family, member 6							56.0	53.0	54.0					10																	18903502		2203	4300	6503	SO:0001819	synonymous_variant	221078						methyltransferase activity|RNA binding	g.chr10:18903502A>T	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.462T>A	10.37:g.18903502A>T							p.I154I	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			5	880	-			154			PUA.		B0YJ54	Silent	SNP	ENST00000377304.4	37	c.462T>A	CCDS7130.1																																																																																				0.328	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		14	59	0	0	0	1	0	14	59				
NLRP1	22861	broad.mit.edu	37	17	5485350	5485350	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:5485350G>A	ENST00000572272.1	-	3	480	c.481C>T	c.(481-483)Cca>Tca	p.P161S	NLRP1_ENST00000345221.3_Missense_Mutation_p.P161S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P161S|NLRP1_ENST00000354411.3_Missense_Mutation_p.P161S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P161S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.P161S			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	161					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGGAGCTTGGAAGAGCTTGG	0.498																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)Cca>Tca		NLR family, pyrin domain containing 1							39.0	43.0	42.0					17																	5485350		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5485350G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.481C>T	17.37:g.5485350G>A	ENSP00000460475:p.Pro161Ser					NLRP1_ENST00000262467.5_Missense_Mutation_p.P161S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.P161S|NLRP1_ENST00000354411.3_Missense_Mutation_p.P161S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P161S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P161S	p.P161S	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			3	1035	-		Colorectal(1115;3.48e-05)	161					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.481C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267877	0.23136	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	2.95	-4.11	0.03928	.	.	.	.	.	T	0.22003	0.0530	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.20671	0.047;0.047;0.028;0.047;0.028	B;B;B;B;B	0.13407	0.009;0.009;0.004;0.009;0.004	T	0.15350	-1.0440	9	0.38643	T	0.18	.	3.9964	0.09559	0.545:0.0:0.2794:0.1756	.	161;161;161;161;161	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	S	161	ENSP00000442029:P161S;ENSP00000262467:P161S;ENSP00000269280:P161S;ENSP00000346390:P161S;ENSP00000324366:P161S	ENSP00000262467:P161S	P	-	1	0	NLRP1	5426074	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.572000	0.05881	-0.906000	0.03866	-1.036000	0.02392	CCA		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		9	14	0	0	0	1	0	9	14				
GAPDHS	26330	broad.mit.edu	37	19	36035831	36035831	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:36035831C>G	ENST00000222286.4	+	10	1193	c.1077C>G	c.(1075-1077)ctC>ctG	p.L359L	TMEM147_ENST00000392204.2_5'Flank|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000222284.5_5'Flank|TMEM147_ENST00000392205.1_5'Flank|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	359					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGGACTTCCTCGGTGATACCC	0.522																																						ENST00000222286.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(1075-1077)ctC>ctG		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	NADH(DB00157)						121.0	110.0	114.0					19																	36035831		2203	4300	6503	SO:0001819	synonymous_variant	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36035831C>G	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.1077C>G	19.37:g.36035831C>G						AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA	p.L359L	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		10	1193	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		359					B2RC82|O60823|Q6JTT9|Q9HCU6	Silent	SNP	ENST00000222286.4	37	c.1077C>G	CCDS12465.1																																																																																				0.522	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		26	86	0	0	0	1	0	26	86				
DCBLD2	131566	broad.mit.edu	37	3	98568334	98568334	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:98568334A>G	ENST00000326840.6	-	3	904	c.542T>C	c.(541-543)tTg>tCg	p.L181S	DCBLD2_ENST00000469648.1_5'UTR|DCBLD2_ENST00000326857.9_Missense_Mutation_p.L181S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	181	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTATGAGGCCAAAAATCCGCG	0.348																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(541-543)tTg>tCg		discoidin, CUB and LCCL domain containing 2							122.0	117.0	119.0					3																	98568334		1858	4095	5953	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98568334A>G		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.542T>C	3.37:g.98568334A>G	ENSP00000321573:p.Leu181Ser					DCBLD2_ENST00000469648.1_5'UTR|DCBLD2_ENST00000326857.9_Missense_Mutation_p.L181S	p.L181S	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			3	904	-			181			CUB.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.542T>C	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952839	0.73787	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857;ENST00000449482	T;T;T	0.16457	2.34;2.34;2.34	5.62	5.62	0.85841	CUB (5);	0.369252	0.28583	N	0.014829	T	0.28134	0.0694	L	0.35793	1.09	0.38725	D	0.953544	D;D	0.71674	0.998;0.977	D;P	0.64877	0.93;0.856	T	0.05419	-1.0886	10	0.22109	T	0.4	-11.9824	13.7742	0.63044	1.0:0.0:0.0:0.0	.	181;181	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	S	181;135;181;75	ENSP00000321573:L181S;ENSP00000321646:L181S;ENSP00000396803:L75S	ENSP00000321573:L181S	L	-	2	0	DCBLD2	100051024	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.226000	0.72277	2.139000	0.66308	0.533000	0.62120	TTG		0.348	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		24	97	0	0	0	1	0	24	97				
SPAG16	79582	broad.mit.edu	37	2	215013944	215013944	+	Silent	SNP	C	C	T	rs376387182	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:215013944C>T	ENST00000331683.5	+	15	1769	c.1674C>T	c.(1672-1674)atC>atT	p.I558I	SPAG16_ENST00000374309.3_Silent_p.I464I	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	558					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTGTGTCCATCGATATAGGTC	0.388													C|||	2	0.000399361	0.0015	0.0	5008	,	,		11721	0.0		0.0	False		,,,				2504	0.0					ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(1672-1674)atC>atT		sperm associated antigen 16		C		1,4405	2.1+/-5.4	0,1,2202	170.0	168.0	169.0		1674	-2.9	0.9	2		169	0,8600		0,0,4300	no	coding-synonymous	SPAG16	NM_024532.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		558/632	215013944	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215013944C>T	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1674C>T	2.37:g.215013944C>T						SPAG16_ENST00000374309.3_Silent_p.I464I	p.I558I	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	15	1769	+		Renal(323;0.00461)	558					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.1674C>T	CCDS2396.1																																																																																				0.388	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		26	151	0	0	0	1	0	26	151				
IFNL2	282616	broad.mit.edu	37	19	39759480	39759480	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:39759480G>C	ENST00000331982.5	+	2	229	c.174G>C	c.(172-174)aaG>aaC	p.K58N		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	58					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											AGGCCTTTAAGAGGGCCAAAG	0.617																																						ENST00000331982.5																			0											c.(172-174)aaG>aaC		interferon, lambda 2							28.0	30.0	29.0					19																	39759480		2203	4294	6497	SO:0001583	missense	282616							g.chr19:39759480G>C	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.174G>C	19.37:g.39759480G>C	ENSP00000333639:p.Lys58Asn						p.K58N	NM_172138.1	NP_742150.1					2	229	+								Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	ENST00000331982.5	37	c.174G>C	CCDS42567.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334420	0.24253	.	.	ENSG00000183709	ENST00000331982	T	0.36157	1.27	3.22	0.982	0.19762	.	0.972258	0.08470	N	0.941213	T	0.49133	0.1539	M	0.79258	2.445	0.25014	N	0.991387	D	0.57257	0.979	P	0.53649	0.731	T	0.36261	-0.9755	10	0.72032	D	0.01	-2.0457	5.9546	0.19265	0.2796:0.0:0.7204:0.0	.	58	Q8IZJ0	IL28A_HUMAN	N	58	ENSP00000333639:K58N	ENSP00000333639:K58N	K	+	3	2	IL28A	44451320	0.764000	0.28473	0.678000	0.29963	0.306000	0.27790	1.770000	0.38532	0.134000	0.18681	-1.142000	0.01873	AAG		0.617	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		9	26	0	0	0	1	0	9	26				
AFAP1	60312	broad.mit.edu	37	4	7870384	7870384	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:7870384G>C	ENST00000360265.4	-	2	424	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	AFAP1_ENST00000358461.2_Missense_Mutation_p.Q64E|AFAP1_ENST00000420658.1_Missense_Mutation_p.Q64E|AFAP1_ENST00000382543.3_Missense_Mutation_p.Q64E			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	64	Pro-rich.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGGGGCATCTGAGGAGGGGCT	0.577																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(190-192)Cag>Gag		actin filament associated protein 1							51.0	48.0	49.0					4																	7870384		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7870384G>C	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.190C>G	4.37:g.7870384G>C	ENSP00000353402:p.Gln64Glu					AFAP1_ENST00000360265.4_Missense_Mutation_p.Q64E|AFAP1_ENST00000382543.3_Missense_Mutation_p.Q64E|AFAP1_ENST00000358461.2_Missense_Mutation_p.Q64E	p.Q64E	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			3	462	-			64			Pro-rich.		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.190C>G	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191128	0.58017	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	L	0.54323	1.7	0.49213	D	0.999768	D;D	0.56287	0.975;0.969	D;D	0.67103	0.949;0.93	T	0.39461	-0.9613	10	0.12430	T	0.62	-49.3353	18.5676	0.91121	0.0:0.0:1.0:0.0	.	64;64	E9PDT7;Q8N556	.;AFAP1_HUMAN	E	64	ENSP00000353402:Q64E;ENSP00000410689:Q64E;ENSP00000351245:Q64E;ENSP00000371983:Q64E	ENSP00000351245:Q64E	Q	-	1	0	AFAP1	7921284	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	7.018000	0.76406	2.463000	0.83235	0.555000	0.69702	CAG		0.577	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		12	40	0	0	0	1	0	12	40				
NPHS2	7827	broad.mit.edu	37	1	179520354	179520354	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:179520354G>A	ENST00000367615.4	-	8	1174	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L	RP11-545A16.1_ENST00000569644.1_RNA|AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.P301L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	369					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGGCTCAACAGGTTTGGAAGG	0.468																																						ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(1105-1107)cCt>cTt		nephrosis 2, idiopathic, steroid-resistant (podocin)							72.0	71.0	71.0					1																	179520354		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179520354G>A	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.1106C>T	1.37:g.179520354G>A	ENSP00000356587:p.Pro369Leu					AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.P301L	p.P369L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			8	1174	-			369					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.1106C>T	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561099	0.45590	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99488	-6.0;-6.0	5.34	2.23	0.28157	.	0.553653	0.20027	N	0.100787	D	0.95918	0.8671	N	0.08118	0	0.28921	N	0.89213	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.001	D	0.93801	0.7101	10	0.41790	T	0.15	-7.4946	5.6108	0.17404	0.1256:0.0:0.5508:0.3236	.	301;369	Q9NP85-2;Q9NP85	.;PODO_HUMAN	L	369;301	ENSP00000356587:P369L;ENSP00000356588:P301L	ENSP00000356587:P369L	P	-	2	0	NPHS2	177786977	0.021000	0.18746	0.957000	0.39632	0.827000	0.46813	0.242000	0.18087	1.343000	0.45638	0.655000	0.94253	CCT		0.468	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			24	59	0	0	0	1	0	24	59				
AADAT	51166	broad.mit.edu	37	4	170983104	170983104	+	Nonsense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:170983104G>C	ENST00000337664.4	-	12	1451	c.1175C>G	c.(1174-1176)tCa>tGa	p.S392*	AADAT_ENST00000353187.2_Nonsense_Mutation_p.S392*|AADAT_ENST00000509167.1_Nonsense_Mutation_p.S396*|AADAT_ENST00000515480.1_Nonsense_Mutation_p.S392*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	392					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		GCTAGGAGCTGAGCTATCGAC	0.408																																						ENST00000337664.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(1174-1176)tCa>tGa		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						137.0	117.0	124.0					4																	170983104		2203	4300	6503	SO:0001587	stop_gained	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170983104G>C	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.1175C>G	4.37:g.170983104G>C	ENSP00000336808:p.Ser392*					AADAT_ENST00000515480.1_Nonsense_Mutation_p.S392*|AADAT_ENST00000509167.1_Nonsense_Mutation_p.S396*|AADAT_ENST00000353187.2_Nonsense_Mutation_p.S392*	p.S392*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	12	1451	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	392					B3KP84|Q9UL02	Nonsense_Mutation	SNP	ENST00000337664.4	37	c.1175C>G	CCDS3814.1	.	.	.	.	.	.	.	.	.	.	G	35	5.435592	0.96150	.	.	ENSG00000109576	ENST00000337664;ENST00000515480;ENST00000509167;ENST00000353187	.	.	.	5.77	3.1	0.35709	.	0.337019	0.31624	N	0.007340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-5.365	8.3743	0.32434	0.1424:0.1291:0.7286:0.0	.	.	.	.	X	392;392;396;392	.	ENSP00000336808:S392X	S	-	2	0	AADAT	171219679	1.000000	0.71417	0.000000	0.03702	0.018000	0.09664	3.790000	0.55461	0.449000	0.26747	0.655000	0.94253	TCA		0.408	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		19	80	0	0	0	1	0	19	80				
CCDC108	255101	broad.mit.edu	37	2	219878634	219878634	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:219878634C>G	ENST00000341552.5	-	22	3818	c.3735G>C	c.(3733-3735)ggG>ggC	p.G1245G	CCDC108_ENST00000453220.1_Silent_p.G1245G|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Silent_p.G1245G	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1245						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)		GACTCAGGCTCCCAGCCTTGG	0.592																																						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.(3733-3735)ggG>ggC		coiled-coil domain containing 108							47.0	47.0	47.0					2																	219878634		2203	4300	6503	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219878634C>G	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.3735G>C	2.37:g.219878634C>G						CCDC108_ENST00000441968.1_Silent_p.G1245G|CCDC108_ENST00000453220.1_Silent_p.G1245G|AC097468.4_ENST00000441450.1_RNA	p.G1245G	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)	22	3818	-		Renal(207;0.0915)	1245					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.3735G>C	CCDS2430.2																																																																																				0.592	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		10	35	0	0	0	1	0	10	35				
RAB5C	5878	broad.mit.edu	37	17	40282382	40282382	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:40282382G>A	ENST00000346213.4	-	2	351	c.139C>T	c.(139-141)Cac>Tac	p.H47Y	RAB5C_ENST00000547517.1_Missense_Mutation_p.H80Y|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.H47Y|RAB5C_ENST00000393860.3_Missense_Mutation_p.H47Y	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	47					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGGTACTCGTGAAACTGTCCC	0.547																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(139-141)Cac>Tac		RAB5C, member RAS oncogene family							101.0	83.0	89.0					17																	40282382		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40282382G>A	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.139C>T	17.37:g.40282382G>A	ENSP00000345689:p.His47Tyr					CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.H47Y|RAB5C_ENST00000346213.4_Missense_Mutation_p.H47Y|RAB5C_ENST00000547517.1_Missense_Mutation_p.H80Y	p.H47Y	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	3	455	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	47					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.139C>T	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327386	0.24080	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	4.86	4.86	0.63082	Small GTP-binding protein domain (1);	0.047494	0.85682	D	0.000000	T	0.56920	0.2018	N	0.04148	-0.265	0.80722	D	1	B;B	0.32939	0.013;0.391	B;B	0.34931	0.01;0.192	T	0.60692	-0.7213	10	0.02654	T	1	-19.6892	18.1879	0.89798	0.0:0.0:1.0:0.0	.	80;47	F8W1H5;P51148	.;RAB5C_HUMAN	Y	47;47;80;47;47;47	ENSP00000345689:H47Y;ENSP00000377440:H47Y;ENSP00000447053:H80Y;ENSP00000449612:H47Y;ENSP00000449777:H47Y;ENSP00000448314:H47Y	ENSP00000345689:H47Y	H	-	1	0	RAB5C	37535908	1.000000	0.71417	0.934000	0.37439	0.437000	0.31866	9.657000	0.98554	2.520000	0.84964	0.467000	0.42956	CAC		0.547	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		12	46	0	0	0	1	0	12	46				
COX4I2	84701	broad.mit.edu	37	20	30227812	30227812	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:30227812C>G	ENST00000376075.3	+	3	234	c.159C>G	c.(157-159)ttC>ttG	p.F53L	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	53					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAGAGCCCTTCTGCACAGAAC	0.602																																						ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(157-159)ttC>ttG		cytochrome c oxidase subunit IV isoform 2 (lung)							68.0	58.0	61.0					20																	30227812		2203	4300	6503	SO:0001583	missense	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30227812C>G	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.159C>G	20.37:g.30227812C>G	ENSP00000365243:p.Phe53Leu					COX4I2_ENST00000490030.1_3'UTR	p.F53L	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		3	234	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		53					Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	c.159C>G	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701004	0.88924	.	.	ENSG00000131055	ENST00000376075	T	0.60920	0.15	4.74	4.74	0.60224	.	0.216830	0.40908	D	0.000987	T	0.63651	0.2529	M	0.84082	2.675	0.46167	D	0.998906	B	0.33345	0.409	B	0.37550	0.253	T	0.69558	-0.5113	10	0.66056	D	0.02	-2.6723	13.1003	0.59216	0.0:1.0:0.0:0.0	.	53	Q96KJ9	COX42_HUMAN	L	53	ENSP00000365243:F53L	ENSP00000365243:F53L	F	+	3	2	COX4I2	29691473	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.926000	0.56491	2.452000	0.82932	0.555000	0.69702	TTC		0.602	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		40	42	0	0	0	1	0	40	42				
LARS	51520	broad.mit.edu	37	5	145552278	145552278	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:145552278C>T	ENST00000394434.2	-	3	351	c.185G>A	c.(184-186)gGa>gAa	p.G62E	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Missense_Mutation_p.G62E|LARS_ENST00000274562.9_Missense_Mutation_p.G62E|LARS_ENST00000510191.1_Missense_Mutation_p.G8E	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	62					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AAACGTGTGTCCCAAATGAAG	0.353																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(184-186)gGa>gAa		leucyl-tRNA synthetase	L-Leucine(DB00149)						100.0	94.0	96.0					5																	145552278		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145552278C>T	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.185G>A	5.37:g.145552278C>T	ENSP00000377954:p.Gly62Glu					LARS_ENST00000274562.9_Missense_Mutation_p.G62E|LARS_ENST00000545646.1_Missense_Mutation_p.G62E|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_Missense_Mutation_p.G8E	p.G62E	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	351	-			62					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.185G>A	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579443	0.96565	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562;ENST00000360930	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34	6.01	6.01	0.97437	Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	H	0.99847	4.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.999	D	0.96937	0.9685	10	0.87932	D	0	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	62;62;62	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	E	62;62;8;62;62	ENSP00000377954:G62E;ENSP00000437791:G62E;ENSP00000426005:G8E;ENSP00000274562:G62E	ENSP00000274562:G62E	G	-	2	0	LARS	145532471	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.218000	0.77991	2.861000	0.98227	0.650000	0.86243	GGA		0.353	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		18	86	0	0	0	1	0	18	86				
ANKLE2	23141	broad.mit.edu	37	12	133310989	133310989	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:133310989C>G	ENST00000357997.5	-	10	1962	c.1873G>C	c.(1873-1875)Gat>Cat	p.D625H	ANKLE2_ENST00000542657.1_5'Flank|ANKLE2_ENST00000539605.1_Missense_Mutation_p.D563H|ANKLE2_ENST00000337516.5_Missense_Mutation_p.D625H|ANKLE2_ENST00000542282.1_5'Flank|ANKLE2_ENST00000542374.1_5'UTR	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	625					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTGGCTTTATCTCGGCAGGAG	0.562																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(1687-1689)Gat>Cat		ankyrin repeat and LEM domain containing 2							105.0	115.0	112.0					12																	133310989		1988	4152	6140	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133310989C>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1873G>C	12.37:g.133310989C>G	ENSP00000350686:p.Asp625His					ANKLE2_ENST00000337516.5_Missense_Mutation_p.D625H|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000357997.5_Missense_Mutation_p.D625H	p.D563H			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	9	8371	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	625					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1687G>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	11.70	1.716087	0.30413	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.31510	1.93;1.92;1.49	5.71	-1.3	0.09259	.	0.503859	0.24952	N	0.034281	T	0.19287	0.0463	L	0.44542	1.39	0.09310	N	1	P;P	0.47106	0.746;0.89	B;P	0.44990	0.206;0.466	T	0.10706	-1.0618	10	0.23302	T	0.38	-14.882	0.2427	0.00194	0.2998:0.2727:0.1901:0.2374	.	625;625	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	H	563;625;625	ENSP00000446268:D563H;ENSP00000350686:D625H;ENSP00000337651:D625H	ENSP00000337651:D625H	D	-	1	0	ANKLE2	131821062	0.348000	0.24861	0.001000	0.08648	0.001000	0.01503	1.895000	0.39778	0.077000	0.16863	-0.175000	0.13238	GAT		0.562	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			17	63	0	0	0	1	0	17	63				
SAP130	79595	broad.mit.edu	37	2	128757382	128757382	+	Silent	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:128757382A>G	ENST00000259235.3	-	10	1353	c.1224T>C	c.(1222-1224)atT>atC	p.I408I	SAP130_ENST00000357702.5_Silent_p.I408I|SAP130_ENST00000259234.6_Silent_p.I382I	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	408					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCATGGTAACAATGGTACTTG	0.478																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(1222-1224)atT>atC		Sin3A-associated protein, 130kDa							218.0	192.0	201.0					2																	128757382		2203	4300	6503	SO:0001819	synonymous_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128757382A>G	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1224T>C	2.37:g.128757382A>G						SAP130_ENST00000259235.3_Silent_p.I408I|SAP130_ENST00000259234.6_Silent_p.I382I	p.I408I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	10	1355	-	Colorectal(110;0.1)		408					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	ENST00000259235.3	37	c.1224T>C	CCDS2153.1																																																																																				0.478	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		20	58	0	0	0	1	0	20	58				
IKBKAP	8518	broad.mit.edu	37	9	111674550	111674550	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:111674550C>T	ENST00000374647.5	-	11	1490	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	IKBKAP_ENST00000537196.1_Missense_Mutation_p.D46N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	395					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTACTTCCATCAATGACAGCC	0.537																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1183-1185)Gat>Aat		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							81.0	65.0	71.0					9																	111674550		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111674550C>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1183G>A	9.37:g.111674550C>T	ENSP00000363779:p.Asp395Asn					IKBKAP_ENST00000537196.1_Missense_Mutation_p.D46N	p.D395N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			11	1490	-			395					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.1183G>A	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394467	0.83011	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.51071	0.72;0.72	5.77	4.87	0.63330	.	0.085295	0.85682	D	0.000000	T	0.71195	0.3311	M	0.86864	2.845	0.39251	D	0.964049	D	0.89917	1.0	D	0.85130	0.997	T	0.77608	-0.2524	10	0.56958	D	0.05	-13.8129	12.6666	0.56846	0.0:0.92:0.0:0.08	.	395	O95163	ELP1_HUMAN	N	395;46	ENSP00000363779:D395N;ENSP00000439367:D46N	ENSP00000363779:D395N	D	-	1	0	IKBKAP	110714371	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.714000	0.68422	1.575000	0.49775	0.650000	0.86243	GAT		0.537	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			18	41	0	0	0	1	0	18	41				
DSP	1832	broad.mit.edu	37	6	7583022	7583022	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:7583022C>G	ENST00000379802.3	+	24	5868	c.5527C>G	c.(5527-5529)Cta>Gta	p.L1843V	DSP_ENST00000418664.2_Missense_Mutation_p.L1244V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1843	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAATCAACTCTAGAGGCAGA	0.488																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5527-5529)Cta>Gta		desmoplakin							109.0	112.0	111.0					6																	7583022		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583022C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5527C>G	6.37:g.7583022C>G	ENSP00000369129:p.Leu1843Val					DSP_ENST00000418664.2_Missense_Mutation_p.L1244V	p.L1843V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5868	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1843			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5527C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074278	0.36566	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.63580	-0.05;-0.05	5.2	3.35	0.38373	.	0.150586	0.30620	N	0.009230	T	0.50017	0.1591	L	0.50333	1.59	0.09310	N	1	D;B	0.71674	0.998;0.295	D;B	0.80764	0.994;0.142	T	0.35674	-0.9779	10	0.12430	T	0.62	.	5.2599	0.15567	0.1461:0.6384:0.0:0.2155	.	1291;1843	Q4LE79;P15924	.;DESP_HUMAN	V	1843;1244	ENSP00000369129:L1843V;ENSP00000396591:L1244V	ENSP00000369129:L1843V	L	+	1	2	DSP	7528021	0.623000	0.27094	0.011000	0.14972	0.918000	0.54935	1.354000	0.34056	1.134000	0.42165	0.650000	0.86243	CTA		0.488	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		20	109	0	0	0	1	0	20	109				
TLR4	7099	broad.mit.edu	37	9	120475341	120475341	+	Missense_Mutation	SNP	C	C	T	rs370529414		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:120475341C>T	ENST00000355622.6	+	3	1036	c.935C>T	c.(934-936)tCa>tTa	p.S312L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S272L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	312					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AATGTTTCTTCATTTTCCCTG	0.328																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(934-936)tCa>tTa		toll-like receptor 4							77.0	84.0	81.0					9																	120475341		2203	4299	6502	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475341C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.935C>T	9.37:g.120475341C>T	ENSP00000363089:p.Ser312Leu					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S272L	p.S312L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1036	+			312					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.935C>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452584	0.43531	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.22336	1.96;1.96	5.78	1.05	0.20165	.	0.877310	0.10136	N	0.711482	T	0.17109	0.0411	L	0.50333	1.59	0.09310	N	1	B	0.31611	0.331	B	0.30316	0.114	T	0.26258	-1.0108	10	0.27785	T	0.31	.	6.093	0.20005	0.1314:0.5684:0.0:0.3002	.	312	O00206	TLR4_HUMAN	L	272;312	ENSP00000377997:S272L;ENSP00000363089:S312L	ENSP00000363089:S312L	S	+	2	0	TLR4	119515162	0.000000	0.05858	0.280000	0.24747	0.538000	0.34931	-0.454000	0.06770	0.290000	0.22444	0.655000	0.94253	TCA		0.328	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		30	89	0	0	0	1	0	30	89				
SLIT2	9353	broad.mit.edu	37	4	20530631	20530631	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:20530631G>A	ENST00000504154.1	+	16	1774	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	SLIT2_ENST00000503823.1_Missense_Mutation_p.E500K|MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000503837.1_Missense_Mutation_p.E504K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E512K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	508	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCTTGCCCTGAAAAGTGTCG	0.408																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1522-1524)Gaa>Aaa		slit homolog 2 (Drosophila)							119.0	121.0	120.0					4																	20530631		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20530631G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1522G>A	4.37:g.20530631G>A	ENSP00000422591:p.Glu508Lys					SLIT2_ENST00000273739.5_Missense_Mutation_p.E512K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E504K|SLIT2_ENST00000503823.1_Missense_Mutation_p.E500K	p.E508K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			16	1774	+			508			LRRNT 3.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1522G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498896	0.64298	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87	5.93	5.93	0.95920	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	L	0.31926	0.97	0.80722	D	1	B;B	0.33000	0.393;0.095	B;B	0.37451	0.25;0.134	D	0.90281	0.4315	10	0.16420	T	0.52	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	500;508	O94813-3;O94813	.;SLIT2_HUMAN	K	500;508;512;504;504	ENSP00000427548:E500K;ENSP00000422591:E508K;ENSP00000273739:E512K;ENSP00000422261:E504K	ENSP00000273739:E512K	E	+	1	0	SLIT2	20139729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.302000	0.72788	2.798000	0.96311	0.655000	0.94253	GAA		0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			22	123	0	0	0	1	0	22	123				
MPDZ	8777	broad.mit.edu	37	9	13216801	13216801	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:13216801C>T	ENST00000319217.7	-	10	1509	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	MPDZ_ENST00000546205.1_Missense_Mutation_p.R421K|MPDZ_ENST00000381015.4_Missense_Mutation_p.R421K|MPDZ_ENST00000536827.1_Missense_Mutation_p.R421K|MPDZ_ENST00000381022.2_Missense_Mutation_p.R421K|MPDZ_ENST00000447879.1_Missense_Mutation_p.R421K|MPDZ_ENST00000541718.1_Missense_Mutation_p.R421K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	421	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AATTTGGATTCTTCCATCATG	0.313																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(1261-1263)aGa>aAa		multiple PDZ domain protein							159.0	144.0	148.0					9																	13216801		1829	4083	5912	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13216801C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1262G>A	9.37:g.13216801C>T	ENSP00000320006:p.Arg421Lys					MPDZ_ENST00000381015.4_Missense_Mutation_p.R421K|MPDZ_ENST00000541718.1_Missense_Mutation_p.R421K|MPDZ_ENST00000546205.1_Missense_Mutation_p.R421K|MPDZ_ENST00000536827.1_Missense_Mutation_p.R421K|MPDZ_ENST00000447879.1_Missense_Mutation_p.R421K|MPDZ_ENST00000381022.2_Missense_Mutation_p.R421K	p.R421K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	10	1509	-			421			PDZ 3.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.1262G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.304959	0.95601	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.88	5.88	0.94601	.	0.000000	0.46442	D	0.000288	T	0.61627	0.2362	L	0.52759	1.655	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.994;0.994	T	0.54912	-0.8222	10	0.39692	T	0.17	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	421;421;421	B7ZMI4;O75970-3;O75970-2	.;.;.	K	421	ENSP00000320006:R421K;ENSP00000439807:R421K;ENSP00000370410:R421K;ENSP00000444151:R421K;ENSP00000415208:R421K;ENSP00000370403:R421K;ENSP00000446358:R421K	ENSP00000320006:R421K	R	-	2	0	MPDZ	13206801	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.514000	0.67043	2.782000	0.95742	0.655000	0.94253	AGA		0.313	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		4	38	0	0	0	1	0	4	38				
GRM8	2918	broad.mit.edu	37	7	126542666	126542666	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:126542666G>A	ENST00000339582.2	-	6	1894	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	GRM8_ENST00000444921.2_Silent_p.F362F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Silent_p.F362F|GRM8_ENST00000358373.3_Silent_p.F362F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	362			F -> Y. {ECO:0000269|Ref.6}.		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)				TCTCCTCCCAGAATTCTGCAA	0.378										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.(1084-1086)ttC>ttT		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						91.0	90.0	90.0					7																	126542666		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.chr7:126542666G>A		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.1086C>T	7.37:g.126542666G>A		HNSCC(24;0.065)				GRM8_ENST00000358373.3_Silent_p.F362F|GRM8_ENST00000444921.2_Silent_p.F362F|GRM8_ENST00000405249.1_Silent_p.F362F|GRM8_ENST00000480995.1_5'UTR	p.F362F			O00222	GRM8_HUMAN			6	1894	-		Prostate(267;0.186)	362		F -> Y.			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1086C>T	CCDS5794.1																																																																																				0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			13	73	0	0	0	1	0	13	73				
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T	rs200672669	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.V1001A(1)|p.V1001E(1)	prostate(1)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3001-3003)gTa>gAa		mucin 4, cell surface associated							45.0	36.0	39.0					3																	195515449		2193	4257	6450	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515449A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>A	3.37:g.195515449A>T	ENSP00000417498:p.Val1001Glu					MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3461	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1006			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3002T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714656	0.15306	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.19;1.18	1.24	-2.48	0.06423	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	E	1001	ENSP00000417498:V1001E;ENSP00000420243:V1001E	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	10	0	0	0	1	0	3	10				
ANKRD17	26057	broad.mit.edu	37	4	74010539	74010539	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:74010539G>C	ENST00000358602.4	-	11	1996	c.1880C>G	c.(1879-1881)tCt>tGt	p.S627C	ANKRD17_ENST00000330838.6_Missense_Mutation_p.S627C|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.S514C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	627					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCACCTTCAGATTCATGTTC	0.313																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(1879-1881)tCt>tGt		ankyrin repeat domain 17							68.0	67.0	67.0					4																	74010539		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74010539G>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.1880C>G	4.37:g.74010539G>C	ENSP00000351416:p.Ser627Cys					ANKRD17_ENST00000509867.2_Missense_Mutation_p.S514C|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.S627C	p.S627C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1996	-	Breast(15;0.000295)		627					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.1880C>G	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.587121	0.86851	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	T;T;T	0.66099	-0.19;-0.19;-0.19	5.66	5.66	0.87406	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000006	T	0.75361	0.3839	L	0.45352	1.415	0.45541	D	0.998492	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.996;0.999;0.998	T	0.76094	-0.3085	10	0.87932	D	0	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	148;627;627;627;514	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	C	627;627;627;514;627	ENSP00000351416:S627C;ENSP00000332265:S627C;ENSP00000427151:S514C	ENSP00000332265:S627C	S	-	2	0	ANKRD17	74229403	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.420000	0.97426	2.832000	0.97577	0.655000	0.94253	TCT		0.313	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		21	70	0	0	0	1	0	21	70				
C1orf112	55732	broad.mit.edu	37	1	169776935	169776935	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:169776935G>T	ENST00000286031.6	+	8	1267	c.567G>T	c.(565-567)caG>caT	p.Q189H	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.Q160H|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q247H|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q189H	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	189										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTTAGGCAGAGCCTTAAGC	0.323																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(565-567)caG>caT		chromosome 1 open reading frame 112							129.0	119.0	122.0					1																	169776935		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169776935G>T	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.567G>T	1.37:g.169776935G>T	ENSP00000286031:p.Gln189His					C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q189H|C1orf112_ENST00000413811.2_Missense_Mutation_p.Q160H|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q247H	p.Q189H	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			8	1267	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		189					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.567G>T	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.627035	0.46840	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.81	3.96	0.45880	.	0.050774	0.85682	D	0.000000	T	0.57140	0.2033	M	0.78637	2.42	0.44006	D	0.996719	D;P	0.76494	0.999;0.865	D;B	0.85130	0.997;0.442	T	0.63314	-0.6665	10	0.87932	D	0	-12.5636	9.7261	0.40333	0.225:0.0:0.775:0.0	.	160;189	B4E0A9;Q9NSG2	.;CA112_HUMAN	H	160;189;247;189	ENSP00000389257:Q160H;ENSP00000352276:Q189H;ENSP00000415583:Q247H;ENSP00000286031:Q189H	ENSP00000286031:Q189H	Q	+	3	2	C1orf112	168043559	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.637000	0.46553	0.828000	0.34709	-0.384000	0.06662	CAG		0.323	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		30	103	1	0	1.68575e-08	1	1.74944e-08	30	103				
C4orf27	54969	broad.mit.edu	37	4	170663146	170663146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:170663146C>A	ENST00000393381.2	-	5	685	c.610G>T	c.(610-612)Gaa>Taa	p.E204*		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	204						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GTTCTCTGTTCAAGCGAGTAC	0.358																																						ENST00000393381.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12						c.(610-612)Gaa>Taa		chromosome 4 open reading frame 27							145.0	134.0	138.0					4																	170663146		2203	4300	6503	SO:0001587	stop_gained	54969					nucleus		g.chr4:170663146C>A	BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.610G>T	4.37:g.170663146C>A	ENSP00000406598:p.Glu204*						p.E204*	NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	5	685	-		Prostate(90;0.00601)|Renal(120;0.0183)	204						Nonsense_Mutation	SNP	ENST00000393381.2	37	c.610G>T	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146419	0.57044	.	.	ENSG00000056050	ENST00000393381	.	.	.	4.64	4.64	0.57946	.	0.047110	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-16.5523	17.8569	0.88767	0.0:1.0:0.0:0.0	.	.	.	.	X	204	.	ENSP00000406598:E204X	E	-	1	0	C4orf27	170899721	1.000000	0.71417	0.755000	0.31263	0.001000	0.01503	6.222000	0.72249	2.286000	0.76751	0.563000	0.77884	GAA		0.358	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		16	123	1	0	1.5739e-10	1	1.6509e-10	16	123				
FOXB2	442425	broad.mit.edu	37	9	79634744	79634744	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:79634744G>A	ENST00000376708.1	+	1	174	c.174G>A	c.(172-174)caG>caA	p.Q58Q		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	58					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)|lung(8)|ovary(1)	10						AGCGCTGGCAGAACAGCCTGC	0.612																																						ENST00000376708.1																			0				breast(1)|lung(8)|ovary(1)	10						c.(172-174)caG>caA		forkhead box B2							77.0	69.0	71.0					9																	79634744		2203	4300	6503	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634744G>A		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.174G>A	9.37:g.79634744G>A							p.Q58Q	NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN			1	174	+			58						Silent	SNP	ENST00000376708.1	37	c.174G>A	CCDS35045.1																																																																																				0.612	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		8	38	0	0	0	1	0	8	38				
FGFBP2	83888	broad.mit.edu	37	4	15964242	15964242	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:15964242C>G	ENST00000259989.6	-	1	617	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	171						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTCCCAGCTCTTCCATCGAG	0.597																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(511-513)Gag>Cag		fibroblast growth factor binding protein 2							158.0	149.0	152.0					4																	15964242		2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964242C>G	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.511G>C	4.37:g.15964242C>G	ENSP00000259989:p.Glu171Gln					FGFBP2_ENST00000509331.1_Intron	p.E171Q	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	617	-			171						Missense_Mutation	SNP	ENST00000259989.6	37	c.511G>C	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	4.804	0.149397	0.09185	.	.	ENSG00000137441	ENST00000259989	T	0.14640	2.49	2.53	1.32	0.21799	.	0.597034	0.14644	N	0.307019	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.33413	0.411	B	0.25140	0.058	T	0.37150	-0.9718	10	0.33141	T	0.24	.	5.5757	0.17222	0.0:0.2831:0.0:0.7169	.	171	Q9BYJ0	FGFP2_HUMAN	Q	171	ENSP00000259989:E171Q	ENSP00000259989:E171Q	E	-	1	0	FGFBP2	15573340	0.999000	0.42202	0.002000	0.10522	0.001000	0.01503	1.829000	0.39121	-0.040000	0.13580	-0.302000	0.09304	GAG		0.597	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		31	156	0	0	0	1	0	31	156				
FIBIN	387758	broad.mit.edu	37	11	27016437	27016437	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:27016437G>A	ENST00000318627.2	+	1	810	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	122						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCTGCGGCGGGAGTCCCACCA	0.612																																						ENST00000318627.2																			0				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						c.(364-366)Gag>Aag		fin bud initiation factor homolog (zebrafish)							67.0	57.0	61.0					11																	27016437		2203	4299	6502	SO:0001583	missense	387758					extracellular region|Golgi apparatus		g.chr11:27016437G>A	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.364G>A	11.37:g.27016437G>A	ENSP00000321962:p.Glu122Lys						p.E122K	NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN			1	810	+			122						Missense_Mutation	SNP	ENST00000318627.2	37	c.364G>A	CCDS7861.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370825	0.95923	.	.	ENSG00000176971	ENST00000318627	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.70513	-0.4851	9	0.87932	D	0	-2.1432	18.6908	0.91582	0.0:0.0:1.0:0.0	.	122	Q8TAL6	FIBIN_HUMAN	K	122	.	ENSP00000321962:E122K	E	+	1	0	FIBIN	26973013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.366000	0.97143	2.775000	0.95449	0.585000	0.79938	GAG		0.612	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		20	52	0	0	0	1	0	20	52				
ZNF135	7694	broad.mit.edu	37	19	58578450	58578450	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:58578450G>C	ENST00000313434.5	+	5	699	c.598G>C	c.(598-600)Gac>Cac	p.D200H	ZNF135_ENST00000401053.4_Missense_Mutation_p.D224H|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Missense_Mutation_p.D212H|ZNF135_ENST00000359978.6_Missense_Mutation_p.D212H|ZNF135_ENST00000439855.2_Missense_Mutation_p.D200H|ZNF135_ENST00000506786.1_Missense_Mutation_p.D158H	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	200					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGAGAAGCCAGACCTAAATGT	0.453																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(472-474)Gac>Cac		zinc finger protein 135							71.0	70.0	70.0					19																	58578450		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578450G>C	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.598G>C	19.37:g.58578450G>C	ENSP00000321406:p.Asp200His					ZNF135_ENST00000511556.1_Missense_Mutation_p.D212H|ZNF135_ENST00000359978.6_Missense_Mutation_p.D212H|ZNF135_ENST00000401053.4_Missense_Mutation_p.D224H|ZNF135_ENST00000313434.5_Missense_Mutation_p.D200H|ZNF135_ENST00000439855.2_Missense_Mutation_p.D200H	p.D158H			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1026	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	212					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.472G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.302|0.302	-0.973322|-0.973322	0.02215|0.02215	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T;T|.	0.06528|.	3.39;3.46;3.41;3.41;3.39;3.29|.	3.07|3.07	-0.607|-0.607	0.11615|0.11615	.|.	.|.	.|.	.|.	.|.	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	N|N	1|1	B;P;B|.	0.37731|.	0.003;0.607;0.01|.	B;B;B|.	0.25759|.	0.001;0.063;0.003|.	T|T	0.30794|0.30794	-0.9966|-0.9966	9|5	0.31617|.	T|.	0.26|.	.|.	8.121|8.121	0.30971|0.30971	0.1218:0.6271:0.2511:0.0|0.1218:0.6271:0.2511:0.0	.|.	212;200;212|.	E9PEV2;P52742;Q8N1I7|.	.;ZN135_HUMAN;.|.	H|H	212;224;212;200;200;212;158|217	ENSP00000441410:D224H;ENSP00000369437:D212H;ENSP00000444828:D200H;ENSP00000321406:D200H;ENSP00000422074:D212H;ENSP00000427691:D158H|.	ENSP00000321406:D200H|.	D|Q	+|+	1|3	0|2	ZNF135|ZNF135	63270262|63270262	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.106000|0.106000	0.19336|0.19336	-0.230000|-0.230000	0.09083|0.09083	-0.026000|-0.026000	0.13895|0.13895	-0.312000|-0.312000	0.09012|0.09012	GAC|CAG		0.453	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		14	82	0	0	0	1	0	14	82				
TARBP1	6894	broad.mit.edu	37	1	234553865	234553865	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:234553865G>C	ENST00000040877.1	-	22	3669	c.3670C>G	c.(3670-3672)Caa>Gaa	p.Q1224E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1224					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGAAGAAATTGAGGGAATTTA	0.274																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3670-3672)Caa>Gaa		TAR (HIV-1) RNA binding protein 1							18.0	19.0	19.0					1																	234553865		2166	4252	6418	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234553865G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3670C>G	1.37:g.234553865G>C	ENSP00000040877:p.Gln1224Glu						p.Q1224E	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		22	3669	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1224					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3670C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	2.961	-0.214537	0.06101	.	.	ENSG00000059588	ENST00000040877	T	0.29655	1.56	4.88	3.94	0.45596	Armadillo-type fold (1);	0.278494	0.35870	N	0.002938	T	0.17874	0.0429	N	0.17474	0.49	0.25080	N	0.990936	B	0.10296	0.003	B	0.08055	0.003	T	0.14839	-1.0458	10	0.28530	T	0.3	-8.2189	10.1374	0.42715	0.0:0.149:0.6964:0.1546	.	1224	Q13395	TARB1_HUMAN	E	1224	ENSP00000040877:Q1224E	ENSP00000040877:Q1224E	Q	-	1	0	TARBP1	232620488	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	3.723000	0.54955	1.224000	0.43551	0.467000	0.42956	CAA		0.274	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		5	23	0	0	0	1	0	5	23				
EPB41L1	2036	broad.mit.edu	37	20	34806809	34806809	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:34806809C>T	ENST00000338074.2	+	18	2441	c.2280C>T	c.(2278-2280)ctC>ctT	p.L760L	EPB41L1_ENST00000441639.1_Silent_p.L658L|EPB41L1_ENST00000373941.1_Silent_p.L759L|EPB41L1_ENST00000202028.5_Silent_p.L658L|EPB41L1_ENST00000373950.2_Silent_p.L651L|EPB41L1_ENST00000373946.3_Silent_p.L580L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	760	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGAACAGTCTCAAGTCCGGGA	0.617																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(2278-2280)ctC>ctT		erythrocyte membrane protein band 4.1-like 1							43.0	38.0	40.0					20																	34806809		2203	4300	6503	SO:0001819	synonymous_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34806809C>T	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2280C>T	20.37:g.34806809C>T						EPB41L1_ENST00000441639.1_Silent_p.L658L|EPB41L1_ENST00000373950.2_Silent_p.L651L|EPB41L1_ENST00000373941.1_Silent_p.L759L|EPB41L1_ENST00000373946.3_Silent_p.L580L|EPB41L1_ENST00000202028.5_Silent_p.L658L	p.L760L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			18	2441	+	Breast(12;0.0239)		760			Carboxyl-terminal (CTD).		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	c.2280C>T	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	C	8.893	0.954428	0.18431	.	.	ENSG00000088367	ENST00000451082	.	.	.	4.97	3.95	0.45737	.	.	.	.	.	T	0.63189	0.2490	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61584	-0.7033	4	.	.	.	.	12.1194	0.53883	0.0:0.8102:0.1898:0.0	.	.	.	.	L	188	.	.	S	+	2	0	EPB41L1	34270223	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.807000	0.47955	2.278000	0.76064	0.462000	0.41574	TCA		0.617	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		5	28	0	0	0	1	0	5	28				
TTN	7273	broad.mit.edu	37	2	179641970	179641970	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:179641970C>T	ENST00000591111.1	-	27	4944	c.4720G>A	c.(4720-4722)Gaa>Aaa	p.E1574K	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1574K|TTN_ENST00000359218.5_Missense_Mutation_p.E1528K|TTN_ENST00000460472.2_Missense_Mutation_p.E1528K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E1574K|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E1574K|TTN_ENST00000342175.6_Missense_Mutation_p.E1528K			Q8WZ42	TITIN_HUMAN	titin	12431	Ig-like 7.				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)			ACTTTCATTTCAAGTCGGGAA	0.383																																						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.(4720-4722)Gaa>Aaa		titin							153.0	146.0	148.0					2																	179641970		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641970C>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.4720G>A	2.37:g.179641970C>T	ENSP00000465570:p.Glu1574Lys					TTN_ENST00000460472.2_Missense_Mutation_p.E1528K|TTN_ENST00000342992.6_Missense_Mutation_p.E1574K|TTN_ENST00000360870.5_Missense_Mutation_p.E1574K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1528K|TTN_ENST00000591111.1_Missense_Mutation_p.E1574K|TTN_ENST00000359218.5_Missense_Mutation_p.E1528K	p.E1574K	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)		27	4944	-			1309			Ig-like 7.		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.4720G>A		.	.	.	.	.	.	.	.	.	.	C	11.26	1.586783	0.28268	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.9	5.03	0.67393	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31857	0.0810	N	0.25890	0.77	0.25340	N	0.988956	B;B;B;B;B	0.27351	0.004;0.004;0.004;0.004;0.176	B;B;B;B;B	0.21917	0.018;0.018;0.018;0.018;0.037	T	0.27468	-1.0073	9	0.87932	D	0	.	11.8976	0.52665	0.0:0.751:0.1821:0.067	.	1528;1528;1528;1574;1574	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1574;1528;1528;1528;1528;1574	ENSP00000343764:E1574K;ENSP00000434586:E1528K;ENSP00000340554:E1528K;ENSP00000352154:E1528K;ENSP00000354117:E1574K	ENSP00000340554:E1528K	E	-	1	0	TTN	179350215	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.027000	0.41078	1.508000	0.48769	0.650000	0.86243	GAA		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	108	0	0	0	1	0	31	108				
SLX4	84464	broad.mit.edu	37	16	3641259	3641259	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3641259C>T	ENST00000294008.3	-	12	3020	c.2380G>A	c.(2380-2382)Gac>Aac	p.D794N		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	794	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCTCTGAGTCAGTGGCAATA	0.542								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(2380-2382)Gac>Aac	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							89.0	91.0	90.0					16																	3641259		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3641259C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2380G>A	16.37:g.3641259C>T	ENSP00000294008:p.Asp794Asn		OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	612		p.D794N	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	3020	-			794			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.2380G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635054	0.67130	.	.	ENSG00000188827	ENST00000294008	T	0.01272	5.07	5.39	3.08	0.35506	BTB/POZ-like (1);	0.392015	0.26159	N	0.025983	T	0.01940	0.0061	L	0.55481	1.735	0.09310	N	1	B	0.32829	0.386	B	0.28553	0.091	T	0.41016	-0.9532	10	0.49607	T	0.09	.	11.8027	0.52137	0.0:0.8311:0.0:0.1689	.	794	Q8IY92	SLX4_HUMAN	N	794	ENSP00000294008:D794N	ENSP00000294008:D794N	D	-	1	0	SLX4	3581260	0.346000	0.24844	0.003000	0.11579	0.007000	0.05969	1.829000	0.39121	1.269000	0.44280	0.561000	0.74099	GAC		0.542	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		22	86	0	0	0	1	0	22	86				
ANKRD36C	400986	broad.mit.edu	37	2	96591150	96591150	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:96591150G>C	ENST00000456556.1	-	30	2075	c.1991C>G	c.(1990-1992)tCt>tGt	p.S664C	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	664							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						ATTCAAAAGAGAAACTTTCTT	0.299																																						ENST00000456556.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1990-1992)tCt>tGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96591150G>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1991C>G	2.37:g.96591150G>C	ENSP00000403302:p.Ser664Cys					ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR	p.S664C							30	2075	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1991C>G		.	.	.	.	.	.	.	.	.	.	g	7.885	0.731068	0.15507	.	.	ENSG00000174501	ENST00000456556	T	0.52754	0.65	0.72	-0.266	0.12942	.	.	.	.	.	T	0.42988	0.1227	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42982	-0.9419	5	0.87932	D	0	.	.	.	.	.	.	.	.	C	664	ENSP00000403302:S664C	ENSP00000403302:S664C	S	-	2	0	AC073995.2	95954877	0.009000	0.17119	0.001000	0.08648	0.012000	0.07955	1.248000	0.32827	-0.122000	0.11766	0.194000	0.17425	TCT		0.299	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	10	0	0	0	1	0	3	10				
LRRC8C	84230	broad.mit.edu	37	1	90180458	90180458	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90180458C>T	ENST00000370454.4	+	3	2584	c.2329C>T	c.(2329-2331)Ctg>Ttg	p.L777L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	777					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGTCGGGCTCTGAAGCGAGC	0.403																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(2329-2331)Ctg>Ttg		leucine rich repeat containing 8 family, member C							78.0	82.0	81.0					1																	90180458		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90180458C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2329C>T	1.37:g.90180458C>T						LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.L777L	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	2584	+		all_lung(203;0.126)	777					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.2329C>T	CCDS725.1																																																																																				0.403	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		29	67	0	0	0	1	0	29	67				
PTCH1	5727	broad.mit.edu	37	9	98242255	98242255	+	Missense_Mutation	SNP	C	C	T	rs555332902		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:98242255C>T	ENST00000331920.6	-	7	1362	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	PTCH1_ENST00000430669.2_Missense_Mutation_p.V289I|PTCH1_ENST00000429896.2_Missense_Mutation_p.V204I|PTCH1_ENST00000437951.1_Missense_Mutation_p.V289I|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000418258.1_Missense_Mutation_p.V204I|PTCH1_ENST00000421141.1_Missense_Mutation_p.V204I|PTCH1_ENST00000375274.2_Missense_Mutation_p.V354I	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	355					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V355fs*82(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTTACCTGACGAGTTTTCCA	0.468													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17748	0.0		0.0	False		,,,				2504	0.0					ENST00000430669.2																			2	Insertion - Frameshift(2)	p.V355fs*82(2)	skin(2)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(865-867)Gtc>Atc		patched 1							156.0	140.0	145.0					9																	98242255		2203	4300	6503	SO:0001583	missense	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98242255C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1063G>A	9.37:g.98242255C>T	ENSP00000332353:p.Val355Ile					PTCH1_ENST00000331920.6_Missense_Mutation_p.V355I|PTCH1_ENST00000421141.1_Missense_Mutation_p.V204I|PTCH1_ENST00000437951.1_Missense_Mutation_p.V289I|PTCH1_ENST00000375274.2_Missense_Mutation_p.V354I|PTCH1_ENST00000418258.1_Missense_Mutation_p.V204I|PTCH1_ENST00000429896.2_Missense_Mutation_p.V204I	p.V289I			Q13635	PTC1_HUMAN			7	1450	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	355					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.865G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	c	2.866	-0.235029	0.05983	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.90261	-2.61;-2.6;-2.58;-2.58;-2.6;-2.58;-2.6;-2.64	5.97	1.14	0.20703	.	0.247901	0.40554	N	0.001077	T	0.82226	0.4991	N	0.21097	0.63	0.30435	N	0.776745	B;B;B;B	0.11235	0.001;0.003;0.002;0.004	B;B;B;B	0.10450	0.005;0.003;0.003;0.001	T	0.73084	-0.4094	10	0.37606	T	0.19	.	11.5553	0.50743	0.0:0.7329:0.0:0.2671	.	204;289;354;355	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	I	355;289;204;204;289;204;354;72	ENSP00000332353:V355I;ENSP00000389744:V289I;ENSP00000399981:V204I;ENSP00000396135:V204I;ENSP00000410287:V289I;ENSP00000414823:V204I;ENSP00000364423:V354I;ENSP00000364420:V72I	ENSP00000332353:V355I	V	-	1	0	PTCH1	97282076	0.731000	0.28111	0.228000	0.23943	0.014000	0.08584	1.189000	0.32114	0.159000	0.19401	-1.598000	0.00824	GTC		0.468	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		28	80	0	0	0	1	0	28	80				
CACNA2D1	781	broad.mit.edu	37	7	81593573	81593573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:81593573C>A	ENST00000356253.5	-	33	2968	c.2713G>T	c.(2713-2715)Gag>Tag	p.E905*	CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.E105*|CACNA2D1_ENST00000356860.3_Nonsense_Mutation_p.E893*			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	905					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCACCGGGCTCACATACTGAC	0.418																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2677-2679)Gag>Tag		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						113.0	111.0	111.0					7																	81593573		2203	4300	6503	SO:0001587	stop_gained	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81593573C>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2713G>T	7.37:g.81593573C>A	ENSP00000348589:p.Glu905*					CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.E105*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.E905*	p.E893*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			33	3015	-			905					Q17R45|Q9UD80|Q9UD81|Q9UD82	Nonsense_Mutation	SNP	ENST00000356253.5	37	c.2677G>T		.	.	.	.	.	.	.	.	.	.	C	41	8.741574	0.98935	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	.	.	.	5.46	4.58	0.56647	.	0.145156	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0737	14.4629	0.67465	0.0:0.9289:0.0:0.0711	.	.	.	.	X	893;912;905;105	.	ENSP00000284088:E912X	E	-	1	0	CACNA2D1	81431509	1.000000	0.71417	0.866000	0.34008	0.069000	0.16628	5.222000	0.65277	1.450000	0.47717	0.644000	0.83932	GAG		0.418	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				5	107	1	0	0.000602214	1	0.000609144	5	107				
TOM1	10043	broad.mit.edu	37	22	35729424	35729424	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:35729424G>A	ENST00000449058.2	+	10	1086	c.961G>A	c.(961-963)Gac>Aac	p.D321N	TOM1_ENST00000411850.1_Missense_Mutation_p.D321N|TOM1_ENST00000436462.2_Missense_Mutation_p.D283N|TOM1_ENST00000425375.1_Missense_Mutation_p.D276N|TOM1_ENST00000447733.1_Missense_Mutation_p.D288N|TOM1_ENST00000382034.5_3'UTR|MIR3909_ENST00000579518.1_RNA	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	321					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GCCGGCAGCTGACCTGATCGA	0.622																																						ENST00000411850.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						c.(961-963)Gac>Aac		target of myb1 (chicken)							44.0	42.0	43.0					22																	35729424		2203	4300	6503	SO:0001583	missense	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35729424G>A	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.961G>A	22.37:g.35729424G>A	ENSP00000394466:p.Asp321Asn					TOM1_ENST00000425375.1_Missense_Mutation_p.D276N|TOM1_ENST00000449058.2_Missense_Mutation_p.D321N|TOM1_ENST00000436462.2_Missense_Mutation_p.D283N|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000447733.1_Missense_Mutation_p.D288N	p.D321N	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN			10	1086	+			321					B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	c.961G>A	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005399	0.35415	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000412456;ENST00000451197;ENST00000436462	T;T;T;T;T;T	0.22539	1.95;1.95;1.96;1.96;1.96;1.95	5.28	4.2	0.49525	.	0.455727	0.24074	N	0.041800	T	0.05868	0.0153	N	0.01874	-0.695	0.80722	D	1	B;B;B;B;B	0.09022	0.002;0.001;0.0;0.002;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.0;0.002;0.001	T	0.35351	-0.9792	10	0.11794	T	0.64	-0.0541	3.3841	0.07265	0.3738:0.0:0.6262:0.0	.	276;283;330;321;321	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	N	288;315;321;321;276;58;330;283	ENSP00000398876:D288N;ENSP00000393714:D315N;ENSP00000394466:D321N;ENSP00000413697:D321N;ENSP00000394924:D276N;ENSP00000402556:D283N	ENSP00000413697:D321N	D	+	1	0	TOM1	34059424	1.000000	0.71417	0.949000	0.38748	0.498000	0.33706	4.932000	0.63476	2.485000	0.83878	0.650000	0.86243	GAC		0.622	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		11	31	0	0	0	1	0	11	31				
SESN1	27244	broad.mit.edu	37	6	109315691	109315691	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:109315691C>G	ENST00000356644.7	-	6	1011	c.917G>C	c.(916-918)aGa>aCa	p.R306T	SESN1_ENST00000302071.2_Missense_Mutation_p.R240T|SESN1_ENST00000436639.2_Missense_Mutation_p.R365T	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	306					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)		CATACTCTCTCTTTTTTCTAT	0.338																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(1093-1095)aGa>aCa		sestrin 1							139.0	124.0	129.0					6																	109315691		2203	4299	6502	SO:0001583	missense	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109315691C>G	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.917G>C	6.37:g.109315691C>G	ENSP00000349061:p.Arg306Thr					SESN1_ENST00000356644.7_Missense_Mutation_p.R306T|SESN1_ENST00000302071.2_Missense_Mutation_p.R240T	p.R365T	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)	6	1839	-		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)	306					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	c.1094G>C	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290189	0.23478	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.21031	2.03;2.03;2.03	5.81	5.81	0.92471	.	0.043276	0.85682	D	0.000000	T	0.03178	0.0093	N	0.01515	-0.825	0.51012	D	0.999908	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.41088	-0.9528	10	0.12430	T	0.62	-55.1735	15.5584	0.76219	0.0:0.8628:0.1372:0.0	.	365;306	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	T	365;240;306	ENSP00000393762:R365T;ENSP00000306734:R240T;ENSP00000349061:R306T	ENSP00000306734:R240T	R	-	2	0	SESN1	109422384	0.982000	0.34865	1.000000	0.80357	0.582000	0.36321	2.201000	0.42734	2.746000	0.94184	0.591000	0.81541	AGA		0.338	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		31	113	0	0	0	1	0	31	113				
DENND5A	23258	broad.mit.edu	37	11	9225277	9225277	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:9225277G>A	ENST00000328194.3	-	4	1199	c.879C>T	c.(877-879)ctC>ctT	p.L293L	DENND5A_ENST00000530044.1_Silent_p.L293L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	293	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTCCACCCCGAGCAGTTCAA	0.463																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(877-879)ctC>ctT		DENN/MADD domain containing 5A							74.0	80.0	78.0					11																	9225277		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9225277G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.879C>T	11.37:g.9225277G>A						DENND5A_ENST00000530044.1_Silent_p.L293L	p.L293L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			4	1199	-			293			DENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.879C>T	CCDS31423.1																																																																																				0.463	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		26	89	0	0	0	1	0	26	89				
GRIPAP1	56850	broad.mit.edu	37	X	48846091	48846091	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:48846091C>T	ENST00000376441.1	-	11	836	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.E215K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E268K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E223K	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	268						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGATCAGCTTCCTTCCGTTGT	0.552																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(643-645)Gaa>Aaa		GRIP1 associated protein 1							151.0	117.0	128.0					X																	48846091		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48846091C>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.802G>A	X.37:g.48846091C>T	ENSP00000365624:p.Glu268Lys					GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E268K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E223K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E268K	p.E215K	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN			10	675	-			268					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.643G>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630843	0.87660	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.42	5.42	0.78866	.	0.059887	0.64402	D	0.000004	T	0.48589	0.1508	L	0.60455	1.87	0.46678	D	0.999159	D;D;D	0.76494	0.999;0.99;0.998	D;P;D	0.80764	0.972;0.819;0.994	T	0.46428	-0.9192	10	0.59425	D	0.04	-11.7305	16.8917	0.86089	0.0:1.0:0.0:0.0	.	215;158;268	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	K	268;223;268;268;215	ENSP00000365608:E268K;ENSP00000365627:E223K;ENSP00000365624:E268K;ENSP00000365606:E215K	ENSP00000365606:E215K	E	-	1	0	GRIPAP1	48731035	1.000000	0.71417	0.988000	0.46212	0.931000	0.56810	5.612000	0.67681	2.250000	0.74265	0.600000	0.82982	GAA		0.552	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		22	22	0	0	0	1	0	22	22				
C7	730	broad.mit.edu	37	5	40979964	40979964	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:40979964C>T	ENST00000313164.9	+	17	2662	c.2303C>T	c.(2302-2304)tCa>tTa	p.S768L	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	768	Factor I module (FIM) 1.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CTGCCTGCCTCAGCTGAGAAA	0.463																																						ENST00000313164.9																			0											c.(2302-2304)tCa>tTa		complement component 7							62.0	63.0	63.0					5																	40979964		1957	4150	6107	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40979964C>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2303C>T	5.37:g.40979964C>T	ENSP00000322061:p.Ser768Leu					C7_ENST00000494960.1_3'UTR	p.S768L	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			17	2662	+		Ovarian(839;0.0112)	768			Complement control factor I module 1.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2303C>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866022	0.51588	.	.	ENSG00000112936	ENST00000313164	T	0.64438	-0.1	5.89	3.15	0.36227	.	1.656010	0.02892	N	0.134243	T	0.60038	0.2238	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41610	-0.9499	10	0.29301	T	0.29	-0.1599	11.0246	0.47739	0.0:0.795:0.0:0.205	.	768	P10643	CO7_HUMAN	L	768	ENSP00000322061:S768L	ENSP00000322061:S768L	S	+	2	0	C7	41015721	0.003000	0.15002	0.001000	0.08648	0.997000	0.91878	1.879000	0.39618	0.845000	0.35118	0.563000	0.77884	TCA		0.463	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			9	39	0	0	0	1	0	9	39				
MMRN1	22915	broad.mit.edu	37	4	90857467	90857467	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:90857467C>A	ENST00000394980.1	+	7	2955	c.2636C>A	c.(2635-2637)tCa>tAa	p.S879*	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.S879*|MMRN1_ENST00000508372.1_Nonsense_Mutation_p.S621*			Q13201	MMRN1_HUMAN	multimerin 1	879					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TATTATATTTCAGTTAAAAAA	0.353																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2635-2637)tCa>tAa		multimerin 1							39.0	42.0	41.0					4																	90857467		2190	4294	6484	SO:0001587	stop_gained	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857467C>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2636C>A	4.37:g.90857467C>A	ENSP00000378431:p.Ser879*					MMRN1_ENST00000508372.1_Nonsense_Mutation_p.S621*|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.S879*	p.S879*			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2955	+		Hepatocellular(203;0.114)	879					Q4W5L1|Q6P3T8|Q6ZUL9	Nonsense_Mutation	SNP	ENST00000394980.1	37	c.2636C>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	42	9.393163	0.99158	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	.	.	.	5.3	4.46	0.54185	.	0.320980	0.27469	N	0.019240	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7139	0.40263	0.1398:0.7884:0.0:0.0718	.	.	.	.	X	879;879;621	.	ENSP00000264790:S879X	S	+	2	0	MMRN1	91076490	0.707000	0.27866	0.999000	0.59377	0.961000	0.63080	1.763000	0.38461	1.556000	0.49512	0.655000	0.94253	TCA		0.353	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		11	77	1	0	3.86212e-05	1	3.92917e-05	11	77				
CASK	8573	broad.mit.edu	37	X	41379816	41379816	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:41379816C>G	ENST00000378163.1	-	27	3112	c.2638G>C	c.(2638-2640)Gac>Cac	p.D880H	CASK_ENST00000361962.4_Missense_Mutation_p.D863H|CASK_ENST00000442742.2_Missense_Mutation_p.D852H|CASK-AS1_ENST00000451126.1_RNA|CASK_ENST00000421587.2_Missense_Mutation_p.D851H|CASK_ENST00000318588.9_Missense_Mutation_p.D875H|CASK_ENST00000378158.1_Missense_Mutation_p.D863H|CASK_ENST00000378166.4_Missense_Mutation_p.D875H			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	880	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGTAAGATGTCAGACTCCTTC	0.438																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.(2623-2625)Gac>Cac		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							150.0	125.0	134.0					X																	41379816		2203	4300	6503	SO:0001583	missense	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41379816C>G	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2638G>C	X.37:g.41379816C>G	ENSP00000367405:p.Asp880His					CASK_ENST00000378158.1_Missense_Mutation_p.D863H|CASK_ENST00000378163.1_Missense_Mutation_p.D880H|CASK_ENST00000378166.4_Missense_Mutation_p.D875H|CASK_ENST00000442742.2_Missense_Mutation_p.D852H|CASK_ENST00000361962.4_Missense_Mutation_p.D863H|CASK_ENST00000421587.2_Missense_Mutation_p.D851H|CASK-AS1_ENST00000451126.1_RNA	p.D875H			O14936	CSKP_HUMAN			27	2668	-			880			Guanylate kinase-like.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37	c.2623G>C		.	.	.	.	.	.	.	.	.	.	C	16.05	3.012207	0.54468	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	T;T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.52	5.52	0.82312	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000017	T	0.35307	0.0927	L	0.50333	1.59	0.80722	D	1	D;P;B;P;P	0.64830	0.994;0.719;0.009;0.931;0.784	P;B;B;P;P	0.60012	0.867;0.209;0.01;0.524;0.649	T	0.03344	-1.1046	10	0.72032	D	0.01	.	18.7511	0.91816	0.0:1.0:0.0:0.0	.	851;852;875;880;472	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	H	851;875;863;880;472;335;863;875;852	ENSP00000400526:D851H;ENSP00000322727:D875H;ENSP00000354641:D863H;ENSP00000367405:D880H;ENSP00000367421:D472H;ENSP00000367410:D335H;ENSP00000367400:D863H;ENSP00000367408:D875H;ENSP00000398007:D852H	ENSP00000322727:D875H	D	-	1	0	CASK	41264760	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.445000	0.80570	2.460000	0.83146	0.600000	0.82982	GAC		0.438	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		24	38	0	0	0	1	0	24	38				
PLAA	9373	broad.mit.edu	37	9	26905734	26905734	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:26905734C>G	ENST00000397292.3	-	14	2580	c.2163G>C	c.(2161-2163)ggG>ggC	p.G721G		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	721	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ATTGGGCTTTCCCTTCAATGT	0.393																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(2161-2163)ggG>ggC		phospholipase A2-activating protein							125.0	119.0	121.0					9																	26905734		2203	4300	6503	SO:0001819	synonymous_variant	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26905734C>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2163G>C	9.37:g.26905734C>G							p.G721G	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	14	2580	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	721			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Silent	SNP	ENST00000397292.3	37	c.2163G>C	CCDS35000.1																																																																																				0.393	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		25	95	0	0	0	1	0	25	95				
SVIL	6840	broad.mit.edu	37	10	29822109	29822109	+	Missense_Mutation	SNP	G	G	A	rs142485178		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:29822109G>A	ENST00000355867.4	-	8	1939	c.1187C>T	c.(1186-1188)tCa>tTa	p.S396L	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.S396L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	396					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGGGTGGCTGATGCTACCCA	0.542																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(1186-1188)tCa>tTa		supervillin		G	,LEU/SER	0,4406		0,0,2203	84.0	69.0	74.0		,1187	3.9	0.0	10	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	SVIL	NM_003174.3,NM_021738.2	,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,396/2215	29822109	1,13005	2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29822109G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1187C>T	10.37:g.29822109G>A	ENSP00000348128:p.Ser396Leu					SVIL_ENST00000355867.4_Missense_Mutation_p.S396L|SVIL_ENST00000375400.3_Intron	p.S396L			O95425	SVIL_HUMAN			10	1636	-		Breast(68;0.103)	396					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1187C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036972	0.35893	0.0	1.16E-4	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.51071	0.72;0.72	5.77	3.92	0.45320	.	0.875848	0.09802	N	0.754001	T	0.37598	0.1009	L	0.51422	1.61	0.09310	N	0.999999	B	0.32245	0.361	B	0.25140	0.058	T	0.25984	-1.0116	9	.	.	.	0.0076	5.5859	0.17274	0.2085:0.0:0.6502:0.1413	.	396	O95425	SVIL_HUMAN	L	396	ENSP00000364547:S396L;ENSP00000348128:S396L	.	S	-	2	0	SVIL	29862115	0.803000	0.28956	0.001000	0.08648	0.010000	0.07245	3.892000	0.56235	0.782000	0.33613	0.655000	0.94253	TCA		0.542	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			19	68	0	0	0	1	0	19	68				
HIST1H2BH	8345	broad.mit.edu	37	6	26251911	26251911	+	Silent	SNP	G	G	A	rs192377920		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:26251911G>A	ENST00000356350.2	+	1	33	c.33G>A	c.(31-33)ccG>ccA	p.P11P	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	11					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CTCCCGCCCCGAAGAAGGGCT	0.532													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18811	0.0		0.0	False		,,,				2504	0.0					ENST00000356350.2																			0				NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						c.(31-33)ccG>ccA		histone cluster 1, H2bh							88.0	81.0	84.0					6																	26251911		2203	4300	6503	SO:0001819	synonymous_variant	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26251911G>A	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.33G>A	6.37:g.26251911G>A							p.P11P	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN			1	33	+			11					B2R541|Q4VB74	Silent	SNP	ENST00000356350.2	37	c.33G>A	CCDS4601.1																																																																																				0.532	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		27	95	0	0	0	1	0	27	95				
MROH7	374977	broad.mit.edu	37	1	55139799	55139799	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:55139799C>G	ENST00000421030.2	+	10	2196	c.1911C>G	c.(1909-1911)ctC>ctG	p.L637L	MROH7_ENST00000339553.5_Silent_p.L637L|MROH7_ENST00000545244.1_Silent_p.L205L|MROH7_ENST00000395690.2_Silent_p.L637L|MROH7_ENST00000454855.2_Silent_p.L155L|MROH7_ENST00000409996.1_Silent_p.L205L|MROH7-TTC4_ENST00000414150.2_Silent_p.L637L	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	637						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCATCATCCTCTACACTATTC	0.507																																						ENST00000414150.2																			0											c.(1909-1911)ctC>ctG		maestro heat-like repeat family member 7							114.0	116.0	116.0					1																	55139799		1957	4164	6121	SO:0001819	synonymous_variant	374977							g.chr1:55139799C>G	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1911C>G	1.37:g.55139799C>G						MROH7_ENST00000409996.1_Silent_p.L205L|MROH7_ENST00000395690.2_Silent_p.L637L|MROH7_ENST00000545244.1_Silent_p.L205L|MROH7_ENST00000454855.2_Silent_p.L155L|MROH7_ENST00000421030.2_Silent_p.L637L|MROH7_ENST00000339553.5_Silent_p.L637L	p.L637L							10	2189	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.1911C>G	CCDS41342.2																																																																																				0.507	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		32	97	0	0	0	1	0	32	97				
UBE4A	9354	broad.mit.edu	37	11	118250276	118250276	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:118250276C>T	ENST00000431736.2	+	11	1780	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	UBE4A_ENST00000252108.3_Nonsense_Mutation_p.R563*|UBE4A_ENST00000545354.1_Nonsense_Mutation_p.R35*					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GCAGTTTGAACGACTGATGAC	0.483																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(1687-1689)Cga>Tga		ubiquitination factor E4A							139.0	124.0	129.0					11																	118250276		2200	4296	6496	SO:0001587	stop_gained	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118250276C>T	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1708C>T	11.37:g.118250276C>T	ENSP00000387362:p.Arg570*					UBE4A_ENST00000431736.2_Nonsense_Mutation_p.R570*|UBE4A_ENST00000545354.1_Nonsense_Mutation_p.R35*	p.R563*	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	11	1818	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	563						Nonsense_Mutation	SNP	ENST00000431736.2	37	c.1687C>T	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	40	8.464219	0.98822	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	.	.	.	5.53	4.61	0.57282	.	0.052924	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-7.1018	15.6747	0.77307	0.1382:0.8618:0.0:0.0	.	.	.	.	X	563;570;35	.	ENSP00000252108:R563X	R	+	1	2	UBE4A	117755486	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.818000	0.86416	1.301000	0.44836	0.655000	0.94253	CGA		0.483	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		25	71	0	0	0	1	0	25	71				
INTS9	55756	broad.mit.edu	37	8	28651413	28651413	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:28651413G>A	ENST00000521022.1	-	10	1029	c.948C>T	c.(946-948)atC>atT	p.I316I	INTS9_ENST00000397363.4_Silent_p.I210I|INTS9_ENST00000521777.1_Silent_p.I292I|INTS9_ENST00000416984.2_Silent_p.I295I	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	316					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CGGCTGAGTCGATGTACTGAT	0.527																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(883-885)atC>atT		integrator complex subunit 9							100.0	96.0	97.0					8																	28651413		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28651413G>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.948C>T	8.37:g.28651413G>A						INTS9_ENST00000397363.4_Silent_p.I210I|INTS9_ENST00000521777.1_Silent_p.I292I|INTS9_ENST00000521022.1_Silent_p.I316I	p.I295I	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	9	1244	-		Ovarian(32;0.0439)	316					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.885C>T	CCDS34873.1																																																																																				0.527	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		20	72	0	0	0	1	0	20	72				
MRPS16	51021	broad.mit.edu	37	10	75011546	75011546	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:75011546G>C	ENST00000372945.3	-	2	459	c.249C>G	c.(247-249)ctC>ctG	p.L83L	RP11-152N13.5_ENST00000457147.1_RNA|DNAJC9-AS1_ENST00000513954.1_RNA|RP11-152N13.5_ENST00000457758.1_RNA|MRPS16_ENST00000416782.2_Silent_p.L83L|RP11-152N13.5_ENST00000394864.2_RNA|TTC18_ENST00000493787.1_5'Flank|MRPS16_ENST00000479005.1_5'UTR|MRPS16_ENST00000372940.3_Silent_p.L83L|DNAJC9_ENST00000372950.4_5'Flank|DNAJC9-AS1_ENST00000440197.2_RNA	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN	mitochondrial ribosomal protein S16	83					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(2)	4	Prostate(51;0.0119)					TAGGCTTAGAGAGGTGGGCCC	0.493																																						ENST00000372945.3																			0				large_intestine(2)|lung(2)	4						c.(247-249)ctC>ctG		mitochondrial ribosomal protein S16							108.0	116.0	113.0					10																	75011546		2203	4300	6503	SO:0001819	synonymous_variant	51021				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr10:75011546G>C	AB051351	CCDS7323.1	10q22.1	2012-09-13			ENSG00000182180	ENSG00000182180		"""Mitochondrial ribosomal proteins / small subunits"""	14048	protein-coding gene	gene with protein product		609204				10810093	Standard	NM_016065		Approved	CGI-132	uc001jts.1	Q9Y3D3	OTTHUMG00000018454	ENST00000372945.3:c.249C>G	10.37:g.75011546G>C						MRPS16_ENST00000372940.3_Silent_p.L83L|DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000416782.2_Silent_p.L83L|MRPS16_ENST00000479005.1_5'UTR	p.L83L	NM_016065.3	NP_057149.1	Q9Y3D3	RT16_HUMAN			2	459	-	Prostate(51;0.0119)		83					B4E032|Q96Q60	Silent	SNP	ENST00000372945.3	37	c.249C>G	CCDS7323.1																																																																																				0.493	MRPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048616.1			61	151	0	0	0	1	0	61	151				
UBXN8	7993	broad.mit.edu	37	8	30614307	30614307	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:30614307C>G	ENST00000519246.1	+	0	630							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						AGTCAGACATCTTTTGAAACA	0.388																																					Colon(169;855 1943 17895 39459 47884)	ENST00000519246.1																			0				central_nervous_system(1)|lung(2)	3								UBX domain protein 8							117.0	110.0	112.0					8																	30614307		1927	4128	6055			7993				single fertilization			g.chr8:30614307C>G	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30614307C>G										O00124	UBXN8_HUMAN			0	630	+								Q7Z6F2	RNA	SNP	ENST00000519246.1	37																																																																																						0.388	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671		23	57	0	0	0	1	0	23	57				
CTAGE1	64693	broad.mit.edu	37	18	19997264	19997264	+	5'Flank	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:19997264C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.E171K			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AACCGTTCTTCATTCGCTTGA	0.388																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(511-513)Gaa>Aaa		cutaneous T-cell lymphoma-associated antigen 1							96.0	102.0	100.0					18																	19997264		2168	4290	6458	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997264C>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997264C>T	Exception_encountered						p.E171K	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	614	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		171					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.511G>A		.	.	.	.	.	.	.	.	.	.	C	13.66	2.302957	0.40795	.	.	ENSG00000212710	ENST00000391403	T	0.30981	1.51	0.909	0.909	0.19332	.	.	.	.	.	T	0.46678	0.1405	M	0.83953	2.67	0.09310	N	1	D	0.54397	0.966	P	0.56751	0.805	T	0.28267	-1.0049	8	.	.	.	.	5.2011	0.15264	0.0:1.0:0.0:0.0	.	171	Q96RT6	CTGE2_HUMAN	K	171	ENSP00000375220:E171K	.	E	-	1	0	CTAGE1	18251262	0.997000	0.39634	0.020000	0.16555	0.017000	0.09413	0.671000	0.25172	0.776000	0.33473	0.449000	0.29647	GAA		0.388	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		48	167	0	0	0	1	0	48	167				
ZNRF2P2	100271874	broad.mit.edu	37	7	29727012	29727012	+	RNA	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:29727012G>A	ENST00000426767.1	-	0	0				AC007276.5_ENST00000602980.1_RNA	NR_024278.1				zinc and ring finger 2 pseudogene 2																		TCAAAGCTGTGAAGGCATGTT	0.313																																						ENST00000602980.1																			0																																																			442524							g.chr7:29727012G>A			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29727012G>A								NR_036482.1						0	830	+									RNA	SNP	ENST00000426767.1	37																																																																																						0.313	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		20	111	0	0	0	1	0	20	111				
OR4K1	79544	broad.mit.edu	37	14	20404156	20404156	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:20404156G>A	ENST00000285600.4	+	1	390	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGTTGGGAGTGAGATGATGTT	0.423																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(331-333)Gag>Aag		olfactory receptor, family 4, subfamily K, member 1							141.0	138.0	139.0					14																	20404156		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404156G>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.331G>A	14.37:g.20404156G>A	ENSP00000285600:p.Glu111Lys						p.E111K	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	390	+	all_cancers(95;0.00108)		111					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.331G>A	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	20.6	4.019660	0.75275	.	.	ENSG00000155249	ENST00000285600	T	0.00414	7.52	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.01976	0.0062	H	0.95982	3.75	0.34031	D	0.653775	D	0.76494	0.999	D	0.65987	0.94	T	0.07790	-1.0754	10	0.62326	D	0.03	.	15.7026	0.77552	0.0:0.0:1.0:0.0	.	111	Q8NGD4	OR4K1_HUMAN	K	111	ENSP00000285600:E111K	ENSP00000285600:E111K	E	+	1	0	OR4K1	19473996	0.981000	0.34729	1.000000	0.80357	0.993000	0.82548	2.178000	0.42519	2.557000	0.86248	0.655000	0.94253	GAG		0.423	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			34	367	0	0	0	1	0	34	367				
KHNYN	23351	broad.mit.edu	37	14	24911433	24911433	+	IGR	SNP	C	C	G	rs201889059		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:24911433C>G	ENST00000251343.5	+	0	6225				SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000555561.1_5'Flank|SDR39U1_ENST00000399395.3_Missense_Mutation_p.D53H|SDR39U1_ENST00000554698.1_5'UTR|SDR39U1_ENST00000399390.1_5'Flank|SDR39U1_ENST00000538105.2_Silent_p.A11A|SDR39U1_ENST00000555365.1_Intron			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						ACGGCGGCATCGCAGCTCGGC	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15567	0.0		0.0	False		,,,				2504	0.0					ENST00000399395.3																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						c.(157-159)Gat>Cat		short chain dehydrogenase/reductase family 39U, member 1							26.0	31.0	29.0					14																	24911433		2010	4169	6179	SO:0001628	intergenic_variant	56948						binding	g.chr14:24911433C>G	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037			14.37:g.24911433C>G						SDR39U1_ENST00000554698.1_5'UTR|SDR39U1_ENST00000553930.1_5'UTR|SDR39U1_ENST00000555365.1_Intron|SDR39U1_ENST00000538105.2_Silent_p.A11A	p.D53H	NM_020195.2	NP_064580.2	Q9NRG7	D39U1_HUMAN			3	190	-			79					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.157G>C	CCDS32058.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	20.8	4.044248	0.75732	.	.	ENSG00000100445	ENST00000399395;ENST00000336353	D	0.95885	-3.84	5.24	5.24	0.73138	.	0.207799	0.49305	D	0.000144	D	0.93220	0.7840	L	0.53249	1.67	0.80722	D	1	B	0.26483	0.15	B	0.21151	0.033	D	0.90898	0.4766	10	0.59425	D	0.04	-20.9366	14.5151	0.67814	0.0:1.0:0.0:0.0	.	53	Q9NRG7-2	.	H	53;79	ENSP00000382327:D53H	ENSP00000336854:D79H	D	-	1	0	SDR39U1	23981273	1.000000	0.71417	0.970000	0.41538	0.565000	0.35776	4.734000	0.62043	2.890000	0.99128	0.650000	0.86243	GAT		0.662	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			3	7	0	0	0	1	0	3	7				
EXOC3L2	90332	broad.mit.edu	37	19	45735089	45735089	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:45735089C>G	ENST00000252482.3	-	1	49	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.E8Q			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	8					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GGCCCCAGCTCCCCATTCTCC	0.587																																						ENST00000413988.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(22-24)Gag>Cag		exocyst complex component 3-like 2							42.0	41.0	41.0					19																	45735089		2203	4300	6503	SO:0001583	missense	90332							g.chr19:45735089C>G	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.22G>C	19.37:g.45735089C>G	ENSP00000252482:p.Glu8Gln					EXOC3L2_ENST00000252482.3_Missense_Mutation_p.E8Q	p.E8Q	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	2	62	-		all_neural(266;0.224)|Ovarian(192;0.231)	8					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.22G>C	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711414	0.30322	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06528	3.29;3.29	5.49	4.37	0.52481	.	0.864260	0.10054	N	0.721875	T	0.04998	0.0134	N	0.16567	0.415	0.23997	N	0.996222	B	0.20261	0.043	B	0.19666	0.026	T	0.32771	-0.9894	10	0.12103	T	0.63	.	13.0782	0.59099	0.0:0.8238:0.1762:0.0	.	8	Q2M3D2	EX3L2_HUMAN	Q	8	ENSP00000252482:E8Q;ENSP00000400713:E8Q	ENSP00000252482:E8Q	E	-	1	0	EXOC3L2	50426929	0.988000	0.35896	0.999000	0.59377	0.979000	0.70002	2.898000	0.48672	2.576000	0.86940	0.557000	0.71058	GAG		0.587	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		8	32	0	0	0	1	0	8	32				
ZC2HC1A	51101	broad.mit.edu	37	8	79601465	79601465	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:79601465C>A	ENST00000263849.4	+	5	463	c.361C>A	c.(361-363)Caa>Aaa	p.Q121K	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	121							metal ion binding (GO:0046872)										AGATTATATTCAATGTCCATA	0.294																																						ENST00000263849.4																			0											c.(361-363)Caa>Aaa		zinc finger, C2HC-type containing 1A																																				SO:0001583	missense	51101							g.chr8:79601465C>A		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.361C>A	8.37:g.79601465C>A	ENSP00000263849:p.Gln121Lys					ZC2HC1A_ENST00000521176.1_3'UTR	p.Q121K	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			5	463	+			121					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.361C>A	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081288	0.76528	.	.	ENSG00000104427	ENST00000263849	T	0.48522	0.81	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.69296	0.3095	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71111	-0.4687	9	.	.	.	-8.0996	18.012	0.89226	0.0:1.0:0.0:0.0	.	121	Q96GY0	F164A_HUMAN	K	121	ENSP00000263849:Q121K	.	Q	+	1	0	FAM164A	79764020	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.377000	0.79668	2.255000	0.74692	0.313000	0.20887	CAA		0.294	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		19	87	1	0	8.34094e-07	1	8.58511e-07	19	87				
ZHX2	22882	broad.mit.edu	37	8	123963934	123963934	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:123963934G>C	ENST00000314393.4	+	3	1019	c.184G>C	c.(184-186)Gag>Cag	p.E62Q		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	62					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAAGTGATAGAGGTGAAATC	0.493																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(184-186)Gag>Cag		zinc fingers and homeoboxes 2							69.0	64.0	66.0					8																	123963934		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123963934G>C	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.184G>C	8.37:g.123963934G>C	ENSP00000314709:p.Glu62Gln						p.E62Q	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1019	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		62						Missense_Mutation	SNP	ENST00000314393.4	37	c.184G>C	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318941	0.60524	.	.	ENSG00000178764	ENST00000314393	T	0.51817	0.69	5.39	5.39	0.77823	.	0.418742	0.25738	N	0.028629	T	0.55784	0.1942	L	0.43152	1.355	0.45541	D	0.998496	D	0.71674	0.998	P	0.59761	0.863	T	0.57347	-0.7827	10	0.66056	D	0.02	-20.7941	12.4867	0.55877	0.0768:0.0:0.9232:0.0	.	62	Q9Y6X8	ZHX2_HUMAN	Q	62	ENSP00000314709:E62Q	ENSP00000314709:E62Q	E	+	1	0	ZHX2	124033115	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	5.149000	0.64863	2.531000	0.85337	0.455000	0.32223	GAG		0.493	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		10	30	0	0	0	1	0	10	30				
KCNH8	131096	broad.mit.edu	37	3	19322798	19322798	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:19322798T>C	ENST00000328405.2	+	3	685	c.419T>C	c.(418-420)aTt>aCt	p.I140T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	140	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAAGTGAAGATTACTCCAGAA	0.323																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(418-420)aTt>aCt		potassium voltage-gated channel, subfamily H (eag-related), member 8							79.0	86.0	84.0					3																	19322798		2203	4298	6501	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19322798T>C	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.419T>C	3.37:g.19322798T>C	ENSP00000328813:p.Ile140Thr						p.I140T	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			3	685	+			140			PAC.		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.419T>C	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	T	10.00	1.233094	0.22626	.	.	ENSG00000183960	ENST00000328405	D	0.98649	-5.05	6.17	6.17	0.99709	PAS-associated, C-terminal (1);	0.287834	0.17950	U	0.156533	D	0.95395	0.8505	N	0.11698	0.16	0.80722	D	1	B;B	0.11235	0.0;0.004	B;B	0.15052	0.001;0.012	D	0.93002	0.6424	9	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	140;140	B7Z398;Q96L42	.;KCNH8_HUMAN	T	140	ENSP00000328813:I140T	.	I	+	2	0	KCNH8	19297802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.687000	0.68219	2.371000	0.80710	0.533000	0.62120	ATT		0.323	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		33	96	0	0	0	1	0	33	96				
CCDC146	57639	broad.mit.edu	37	7	76797037	76797037	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:76797037G>A	ENST00000285871.4	+	2	179	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	18										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GGAGAAAGATGAAAAGGATCA	0.358																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(52-54)Gaa>Aaa		coiled-coil domain containing 146							68.0	69.0	69.0					7																	76797037		2202	4278	6480	SO:0001583	missense	57639							g.chr7:76797037G>A	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.52G>A	7.37:g.76797037G>A	ENSP00000285871:p.Glu18Lys					CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA	p.E18K	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			2	179	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	18					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.52G>A	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	6.889	0.533512	0.13188	.	.	ENSG00000135205	ENST00000415750;ENST00000285871	D;D	0.87179	-2.22;-2.22	3.83	0.858	0.19030	.	1.051440	0.07497	N	0.906628	T	0.74427	0.3715	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.10450	0.001;0.005	T	0.56269	-0.8007	10	0.16420	T	0.52	-1.3126	4.2942	0.10894	0.2208:0.1883:0.5908:0.0	.	18;18	Q8IYE0;C9JRR4	CC146_HUMAN;.	K	18	ENSP00000388649:E18K;ENSP00000285871:E18K	ENSP00000285871:E18K	E	+	1	0	AC007000.1	76634973	0.000000	0.05858	0.003000	0.11579	0.598000	0.36846	0.106000	0.15354	0.058000	0.16222	0.454000	0.30748	GAA		0.358	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		7	72	0	0	0	1	0	7	72				
SLC9A5	6553	broad.mit.edu	37	16	67293509	67293509	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:67293509C>T	ENST00000299798.11	+	11	1725	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	554					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGTCTCACTCTGCCTTCTAT	0.552																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1660-1662)Ctg>Ttg		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							81.0	84.0	83.0					16																	67293509		2083	4219	6302	SO:0001819	synonymous_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67293509C>T		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1660C>T	16.37:g.67293509C>T							p.L554L	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	11	1725	+		Ovarian(137;0.0563)	554					A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	c.1660C>T	CCDS42178.1																																																																																				0.552	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			12	46	0	0	0	1	0	12	46				
IL21	59067	broad.mit.edu	37	4	123542073	123542073	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:123542073G>A	ENST00000264497.3	-	1	151	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	25					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TGGCGATCTTGACCTTGGGAG	0.408																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(94-96)Caa>Taa		interleukin 21							146.0	139.0	141.0					4																	123542073		2203	4300	6503	SO:0001587	stop_gained	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542073G>A	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.94C>T	4.37:g.123542073G>A	ENSP00000264497:p.Gln32*					IL21-AS1_ENST00000417927.1_RNA	p.Q32*	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			1	151	-			25					A5J0L4	Nonsense_Mutation	SNP	ENST00000264497.3	37	c.94C>T	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649059	0.67358	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.43	3.69	0.42338	.	0.459978	0.18602	N	0.136425	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.9378	9.103	0.36681	0.0:0.1602:0.6733:0.1665	.	.	.	.	X	32	.	ENSP00000264497:Q32X	Q	-	1	0	IL21	123761523	0.179000	0.23135	0.451000	0.26982	0.662000	0.39071	1.271000	0.33098	0.646000	0.30693	0.655000	0.94253	CAA		0.408	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		38	101	0	0	0	1	0	38	101				
HDLBP	3069	broad.mit.edu	37	2	242170210	242170210	+	Silent	SNP	G	G	A	rs11555546		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:242170210G>A	ENST00000391975.1	-	25	3665	c.3438C>T	c.(3436-3438)cgC>cgT	p.R1146R	HDLBP_ENST00000427183.2_Silent_p.R1113R|HDLBP_ENST00000310931.4_Silent_p.R1146R|HDLBP_ENST00000391976.2_Silent_p.R1146R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1146	KH 14. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGGCTTTGCCGCGGGCACCAA	0.582																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3436-3438)cgC>cgT		high density lipoprotein binding protein							118.0	92.0	100.0					2																	242170210		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242170210G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3438C>T	2.37:g.242170210G>A						HDLBP_ENST00000391976.2_Silent_p.R1146R|HDLBP_ENST00000427183.2_Silent_p.R1113R|HDLBP_ENST00000310931.4_Silent_p.R1146R	p.R1146R	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	25	3665	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1146			KH 14.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.3438C>T	CCDS2547.1																																																																																				0.582	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		14	38	0	0	0	1	0	14	38				
CYP4A22	284541	broad.mit.edu	37	1	47614436	47614436	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:47614436C>G	ENST00000371891.3	+	12	1558	c.1527C>G	c.(1525-1527)ctC>ctG	p.L509L	CYP4A22_ENST00000371890.3_Silent_p.L411L|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	509			L -> F (in allele CYP4A22*7, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs4926600). {ECO:0000269|PubMed:15611369, ECO:0000269|PubMed:16806293}.			endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGGAGGCTCCCTAACCCTT	0.567																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1525-1527)ctC>ctG		cytochrome P450, family 4, subfamily A, polypeptide 22							89.0	76.0	81.0					1																	47614436		2203	4298	6501	SO:0001819	synonymous_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47614436C>G		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1527C>G	1.37:g.47614436C>G						CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Silent_p.L411L|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.L509L	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			12	1558	+			509		L -> F (in allele CYP4A22*7, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15; dbSNP:rs4926600).			Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	c.1527C>G	CCDS30707.1																																																																																				0.567	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		16	32	0	0	0	1	0	16	32				
COL6A3	1293	broad.mit.edu	37	2	238287348	238287348	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:238287348G>T	ENST00000295550.4	-	6	2880	c.2428C>A	c.(2428-2430)Cag>Aag	p.Q810K	COL6A3_ENST00000392003.2_Missense_Mutation_p.Q403K|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q604K|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q604K|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q609K|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q604K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	810	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCAGCTGCTGAGGCAAAGCT	0.542																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(2428-2430)Cag>Aag		collagen, type VI, alpha 3							78.0	76.0	76.0					2																	238287348		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238287348G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2428C>A	2.37:g.238287348G>T	ENSP00000295550:p.Gln810Lys					COL6A3_ENST00000353578.4_Missense_Mutation_p.Q604K|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q403K|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q604K|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q604K|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q609K|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000472056.1_Intron	p.Q810K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	6	2880	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	810			Nonhelical region.|VWFA 4.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2428C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643126	0.67244	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000409809;ENST00000392004;ENST00000392003	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.52	5.52	0.82312	von Willebrand factor, type A (2);	0.000000	0.47093	D	0.000253	D	0.83834	0.5340	L	0.41356	1.27	0.80722	D	1	P;D;D;D	0.76494	0.784;0.999;0.999;0.998	P;D;D;D	0.87578	0.696;0.998;0.997;0.968	T	0.80422	-0.1389	10	0.26408	T	0.33	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	403;604;604;810	A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	K	810;609;604;604;604;403	ENSP00000295550:Q810K;ENSP00000315609:Q609K;ENSP00000315873:Q604K;ENSP00000386844:Q604K;ENSP00000375861:Q604K;ENSP00000375860:Q403K	ENSP00000295550:Q810K	Q	-	1	0	COL6A3	237952087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.160000	0.58164	2.595000	0.87683	0.655000	0.94253	CAG		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		21	62	1	0	3.51602e-12	1	3.70573e-12	21	62				
PDZRN4	29951	broad.mit.edu	37	12	41967558	41967558	+	Missense_Mutation	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:41967558A>G	ENST00000402685.2	+	10	2985	c.2977A>G	c.(2977-2979)Aaa>Gaa	p.K993E	PDZRN4_ENST00000298919.7_Missense_Mutation_p.K733E|PDZRN4_ENST00000539469.2_Missense_Mutation_p.K735E	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	993							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)				ACTGAGTCACAAAAAGATGAT	0.463																																						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.(2197-2199)Aaa>Gaa		PDZ domain containing ring finger 4							50.0	48.0	49.0					12																	41967558		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967558A>G	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.2977A>G	12.37:g.41967558A>G	ENSP00000384197:p.Lys993Glu					PDZRN4_ENST00000539469.2_Missense_Mutation_p.K735E|PDZRN4_ENST00000402685.2_Missense_Mutation_p.K993E	p.K733E			Q6ZMN7	PZRN4_HUMAN			10	2585	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	993					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2197A>G	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302670	0.60195	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.76316	-1.01;-1.01;-1.01	4.42	4.42	0.53409	.	0.282420	0.34411	N	0.003995	D	0.87613	0.6221	M	0.81497	2.545	0.44500	D	0.997442	D;D;D	0.67145	0.992;0.996;0.996	P;D;D	0.72075	0.831;0.976;0.956	D	0.89621	0.3848	10	0.87932	D	0	-33.8813	14.3578	0.66750	1.0:0.0:0.0:0.0	.	993;733;735	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	E	993;735;733	ENSP00000384197:K993E;ENSP00000439990:K735E;ENSP00000298919:K733E	ENSP00000298919:K733E	K	+	1	0	PDZRN4	40253825	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.900000	0.69853	1.931000	0.55961	0.377000	0.23210	AAA		0.463	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		6	32	0	0	0	1	0	6	32				
RFX7	64864	broad.mit.edu	37	15	56388290	56388290	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388290C>T	ENST00000559447.2	-	9	1616	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	RFX7_ENST00000422057.1_Missense_Mutation_p.D449N|RFX7_ENST00000423270.1_Missense_Mutation_p.D546N|RFX7_ENST00000317318.6_Missense_Mutation_p.D546N			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	449					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGATGCTCATCTGATGATGTT	0.527																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1636-1638)Gat>Aat		regulatory factor X, 7							59.0	58.0	58.0					15																	56388290		1992	4162	6154	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388290C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1345G>A	15.37:g.56388290C>T	ENSP00000453281:p.Asp449Asn					RFX7_ENST00000422057.1_Missense_Mutation_p.D449N|RFX7_ENST00000559447.2_Missense_Mutation_p.D449N|RFX7_ENST00000317318.6_Missense_Mutation_p.D546N	p.D546N	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1635	-			449					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1636G>A		.	.	.	.	.	.	.	.	.	.	C	16.21	3.057898	0.55325	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.57436	0.41;0.4;0.41	5.09	5.09	0.68999	.	0.200375	0.36374	N	0.002624	T	0.39600	0.1084	N	0.14661	0.345	0.35728	D	0.817679	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.46898	-0.9158	10	0.66056	D	0.02	-8.3602	17.4716	0.87647	0.0:1.0:0.0:0.0	.	449;449	Q2KHR2;C9JU50	RFX7_HUMAN;.	N	449;546;546	ENSP00000387504:D449N;ENSP00000313299:D546N;ENSP00000397644:D546N	ENSP00000313299:D546N	D	-	1	0	RFX7	54175582	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	5.356000	0.66052	2.336000	0.79503	0.655000	0.94253	GAT		0.527	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		12	44	0	0	0	1	0	12	44				
GPN1	11321	broad.mit.edu	37	2	27861751	27861751	+	Splice_Site	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:27861751G>C	ENST00000610189.1	+	9	577		c.e9-1		GPN1_ENST00000424214.1_Splice_Site|GPN1_ENST00000461249.1_Splice_Site|GPN1_ENST00000458167.2_Splice_Site|GPN1_ENST00000515877.1_Splice_Site|GPN1_ENST00000264718.3_Splice_Site|GPN1_ENST00000407583.3_Splice_Site|GPN1_ENST00000503738.1_Splice_Site	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						CTCTGGTACAGACTGACATCA	0.388																																						ENST00000264718.3																			0				endometrium(1)|large_intestine(1)|lung(12)	14						c.e9-1		GPN-loop GTPase 1							109.0	96.0	100.0					2																	27861751		2203	4300	6503	SO:0001630	splice_region_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27861751G>C	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.571-1G>C	2.37:g.27861751G>C						GPN1_ENST00000407583.3_Splice_Site|GPN1_ENST00000503738.1_Splice_Site|GPN1_ENST00000515877.1_Splice_Site|GPN1_ENST00000461249.1_Splice_Site|GPN1_ENST00000424214.1_Splice_Site|GPN1_ENST00000458167.2_Splice_Site		NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN			9	633	+									Splice_Site	SNP	ENST00000610189.1	37			.	.	.	.	.	.	.	.	.	.	G	24.4	4.528749	0.85706	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5582	0.84512	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPN1	27715255	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.102000	0.94226	2.703000	0.92315	0.655000	0.94253	.		0.388	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266	Intron	12	59	0	0	0	1	0	12	59				
DTX3	196403	broad.mit.edu	37	12	58002910	58002910	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:58002910G>A	ENST00000548198.1	+	5	2523	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	DTX3_ENST00000548804.1_Missense_Mutation_p.R340K|ARHGEF25_ENST00000286494.4_5'Flank|DTX3_ENST00000551632.1_Missense_Mutation_p.R343K|ARHGEF25_ENST00000333972.7_5'Flank|AC025165.8_ENST00000356672.3_RNA|DTX3_ENST00000337737.3_Missense_Mutation_p.R340K			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	340					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GAGGAGCTGAGAGCGAAGGGT	0.557																																						ENST00000548198.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12						c.(1018-1020)aGa>aAa		deltex homolog 3 (Drosophila)							114.0	116.0	116.0					12																	58002910		1990	4160	6150	SO:0001583	missense	196403				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr12:58002910G>A	AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.1019G>A	12.37:g.58002910G>A	ENSP00000447873:p.Arg340Lys					DTX3_ENST00000337737.3_Missense_Mutation_p.R340K|DTX3_ENST00000548804.1_Missense_Mutation_p.R340K|DTX3_ENST00000551632.1_Missense_Mutation_p.R343K	p.R340K			Q8N9I9	DTX3_HUMAN			5	2523	+	Melanoma(17;0.122)		340					Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	ENST00000548198.1	37	c.1019G>A	CCDS41800.1	.	.	.	.	.	.	.	.	.	.	g	2.412	-0.335041	0.05278	.	.	ENSG00000178498	ENST00000548804;ENST00000337737;ENST00000548198;ENST00000551632	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	3.19	1.3	0.21679	.	0.137363	0.43579	U	0.000543	T	0.15609	0.0376	N	0.05259	-0.085	0.37920	D	0.931649	B	0.14805	0.011	B	0.14023	0.01	T	0.28038	-1.0056	10	0.02654	T	1	.	7.819	0.29276	0.2308:0.0:0.7692:0.0	.	340	Q8N9I9	DTX3_HUMAN	K	340;340;340;343	ENSP00000449294:R340K;ENSP00000338050:R340K;ENSP00000447873:R340K;ENSP00000448696:R343K	ENSP00000338050:R340K	R	+	2	0	DTX3	56289177	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	2.933000	0.48948	0.651000	0.30788	-0.224000	0.12420	AGA		0.557	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407848.1	NM_178502		8	50	0	0	0	1	0	8	50				
PGBD4	161779	broad.mit.edu	37	15	34395296	34395296	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:34395296C>G	ENST00000397766.2	+	1	1023	c.564C>G	c.(562-564)ctC>ctG	p.L188L	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	188										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CACCTTATCTCAGGCAAATTA	0.388																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(562-564)ctC>ctG		piggyBac transposable element derived 4							109.0	107.0	107.0					15																	34395296		2201	4298	6499	SO:0001819	synonymous_variant	161779							g.chr15:34395296C>G	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.564C>G	15.37:g.34395296C>G							p.L188L	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1023	+		all_lung(180;1.76e-08)	188					A1L487|A8K0C6|Q8N9E8	Silent	SNP	ENST00000397766.2	37	c.564C>G	CCDS10033.1																																																																																				0.388	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			55	157	0	0	0	1	0	55	157				
PITPNM3	83394	broad.mit.edu	37	17	6371598	6371598	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:6371598G>A	ENST00000262483.8	-	14	1924	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.P577S	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	613					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGGTTGGCAGGACTCAGTGCT	0.622																																						ENST00000262483.8																			0											c.(1837-1839)Cct>Tct									80.0	78.0	79.0					17																	6371598		2203	4300	6503	SO:0001583	missense	83394							g.chr17:6371598G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1837C>T	17.37:g.6371598G>A	ENSP00000262483:p.Pro613Ser					ACKR6_ENST00000421306.3_Missense_Mutation_p.P577S|ACKR6_ENST00000576664.1_5'UTR	p.P613S	NM_031220.3	NP_112497.2					14	1924	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.1837C>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026529	0.35797	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.49720	0.77;0.78	4.91	3.91	0.45181	.	0.057321	0.64402	D	0.000001	T	0.68531	0.3011	M	0.88241	2.94	0.50813	D	0.999897	D;P	0.53151	0.958;0.891	P;B	0.60949	0.881;0.311	T	0.72603	-0.4243	10	0.49607	T	0.09	.	12.106	0.53813	0.0:0.0:0.8267:0.1733	.	577;613	F8WEW5;Q9BZ71	.;PITM3_HUMAN	S	613;577	ENSP00000262483:P613S;ENSP00000407882:P577S	ENSP00000262483:P613S	P	-	1	0	PITPNM3	6312322	1.000000	0.71417	0.964000	0.40570	0.012000	0.07955	7.995000	0.88328	1.005000	0.39183	0.462000	0.41574	CCT		0.622	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		16	42	0	0	0	1	0	16	42				
SFTPB	6439	broad.mit.edu	37	2	85892750	85892750	+	Silent	SNP	C	C	T	rs543913426	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:85892750C>T	ENST00000519937.2	-	5	580	c.561G>A	c.(559-561)gcG>gcA	p.A187A	SFTPB_ENST00000342375.3_Silent_p.A187A|SFTPB_ENST00000409383.1_Silent_p.A199A|SFTPB_ENST00000393822.3_Silent_p.A199A			P07988	PSPB_HUMAN	surfactant protein B	187					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GCCCAGGCCTCGCCTGGAGGG	0.677													c|||	2	0.000399361	0.0008	0.0	5008	,	,		16274	0.0		0.0	False		,,,				2504	0.001					ENST00000393822.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(595-597)gcG>gcA		surfactant protein B							32.0	35.0	34.0					2																	85892750		2201	4300	6501	SO:0001819	synonymous_variant	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85892750C>T	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.561G>A	2.37:g.85892750C>T						SFTPB_ENST00000519937.2_Silent_p.A187A|SFTPB_ENST00000409383.1_Silent_p.A199A|SFTPB_ENST00000342375.3_Silent_p.A187A	p.A199A			P07988	PSPB_HUMAN			6	696	-			187					Q96R04	Silent	SNP	ENST00000519937.2	37	c.597G>A		.	.	.	.	.	.	.	.	.	.	c	10.23	1.292572	0.23564	.	.	ENSG00000168878	ENST00000428225	.	.	.	4.7	-1.97	0.07503	.	.	.	.	.	T	0.22666	0.0547	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26018	-1.0115	4	.	.	.	1.0166	4.6474	0.12579	0.0:0.3518:0.2851:0.3631	.	.	.	.	K	184	.	.	E	-	1	0	SFTPB	85746261	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-0.228000	0.09114	-0.912000	0.03837	0.556000	0.70494	GAG		0.677	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		27	56	0	0	0	1	0	27	56				
SDHB	6390	broad.mit.edu	37	1	17371298	17371298	+	Missense_Mutation	SNP	C	C	G	rs34916635	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:17371298C>G	ENST00000375499.3	-	2	308	c.158G>C	c.(157-159)gGa>gCa	p.G53A	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	53	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.		G -> R (in pheochromocytoma). {ECO:0000269|PubMed:15328326}.		aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	AGGTTTGTCTCCAGCCTTGTC	0.453			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													ENST00000375499.3			yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""Mis, N, F"""	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""			O		"""paraganglioma, pheochromocytoma"""			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10						c.(157-159)gGa>gCa		succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	Succinic acid(DB00139)						114.0	110.0	111.0					1																	17371298		2203	4300	6503	SO:0001583	missense	6390	Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding	g.chr1:17371298C>G	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.158G>C	1.37:g.17371298C>G	ENSP00000364649:p.Gly53Ala					SDHB_ENST00000466613.1_5'UTR	p.G53A	NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	2	308	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	53		G -> R (in pheochromocytoma).	2Fe-2S ferredoxin-type.		B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	c.158G>C	CCDS176.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453096	0.63290	.	.	ENSG00000117118	ENST00000375499	D	0.98835	-5.17	5.65	5.65	0.86999	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.055831	0.64402	D	0.000001	D	0.96309	0.8796	N	0.25245	0.725	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	D	0.92406	0.5933	10	0.42905	T	0.14	-14.3958	18.4558	0.90720	0.0:1.0:0.0:0.0	.	53	P21912	DHSB_HUMAN	A	53	ENSP00000364649:G53A	ENSP00000364649:G53A	G	-	2	0	SDHB	17243885	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	5.108000	0.64609	2.941000	0.99782	0.655000	0.94253	GGA		0.453	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		12	75	0	0	0	1	0	12	75				
NFE2L2	4780	broad.mit.edu	37	2	178095961	178095961	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:178095961T>C	ENST00000397062.3	-	5	1924	c.1370A>G	c.(1369-1371)gAt>gGt	p.D457G	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D441G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D434G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D441G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	457					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CCTAAGTTCATCTCTTGTGAG	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1369-1371)gAt>gGt		nuclear factor, erythroid 2-like 2							164.0	151.0	155.0					2																	178095961		1872	4113	5985	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095961T>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1370A>G	2.37:g.178095961T>C	ENSP00000380252:p.Asp457Gly	HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Missense_Mutation_p.D441G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D441G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D434G	p.D457G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	1924	-			457					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.1370A>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949843	0.73787	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	T;T;T;T	0.56941	0.52;0.5;0.55;0.43	6.04	6.04	0.98038	Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.83052	-0.0152	10	0.87932	D	0	-21.8016	16.5885	0.84745	0.0:0.0:0.0:1.0	.	434;457	E9PGJ7;Q16236	.;NF2L2_HUMAN	G	441;457;434;185	ENSP00000380253:D441G;ENSP00000380252:D457G;ENSP00000411575:D434G;ENSP00000391590:D185G	ENSP00000380252:D457G	D	-	2	0	NFE2L2	177804207	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	GAT		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		59	177	0	0	0	1	0	59	177				
INSR	3643	broad.mit.edu	37	19	7267738	7267738	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:7267738G>A	ENST00000302850.5	-	2	412	c.270C>T	c.(268-270)ctC>ctT	p.L90L	INSR_ENST00000341500.5_Silent_p.L90L	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	90	Leu-rich.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AGACCCGGAAGAGCAGCAAGT	0.512																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(268-270)ctC>ctT		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						79.0	75.0	76.0					19																	7267738		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7267738G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.270C>T	19.37:g.7267738G>A						INSR_ENST00000302850.5_Silent_p.L90L	p.L90L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			2	309	-			90					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.270C>T	CCDS12176.1																																																																																				0.512	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			13	87	0	0	0	1	0	13	87				
CBLB	868	broad.mit.edu	37	3	105586266	105586266	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:105586266G>C	ENST00000264122.4	-	2	477	c.156C>G	c.(154-156)ctC>ctG	p.L52L	CBLB_ENST00000394027.3_Silent_p.L74L|CBLB_ENST00000405772.1_Silent_p.L52L|CBLB_ENST00000403724.1_Silent_p.L52L|CBLB_ENST00000545639.1_Silent_p.L74L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	52	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTTTGTCCATGAGCTTCCAAG	0.438			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(154-156)ctC>ctG		Cbl proto-oncogene B, E3 ubiquitin protein ligase							165.0	156.0	159.0					3																	105586266		2203	4300	6503	SO:0001819	synonymous_variant	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105586266G>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.156C>G	3.37:g.105586266G>C						CBLB_ENST00000545639.1_Silent_p.L74L|CBLB_ENST00000405772.1_Silent_p.L52L|CBLB_ENST00000403724.1_Silent_p.L52L|CBLB_ENST00000394027.3_Silent_p.L74L	p.L52L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			2	477	-			52			4H.|Cbl-PTB.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Silent	SNP	ENST00000264122.4	37	c.156C>G	CCDS2948.1																																																																																				0.438	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		33	159	0	0	0	1	0	33	159				
SCUBE1	80274	broad.mit.edu	37	22	43606202	43606202	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:43606202C>T	ENST00000360835.4	-	19	2554	c.2428G>A	c.(2428-2430)Gag>Aag	p.E810K	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	810	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TTGGGGGACTCGATGTAGCCG	0.657																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2428-2430)Gag>Aag		signal peptide, CUB domain, EGF-like 1							79.0	66.0	70.0					22																	43606202		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43606202C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2428G>A	22.37:g.43606202C>T	ENSP00000354080:p.Glu810Lys						p.E810K	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			19	2554	-		all_neural(38;0.0414)|Ovarian(80;0.07)	810			CUB.		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.2428G>A	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994672	0.74703	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.16897	2.31	3.54	2.52	0.30459	CUB (5);	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10823	-1.0613	10	0.87932	D	0	.	13.23	0.59938	0.0:0.8389:0.1611:0.0	.	810	Q8IWY4	SCUB1_HUMAN	K	810;440	ENSP00000354080:E810K	ENSP00000354080:E810K	E	-	1	0	SCUBE1	41936146	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	7.501000	0.81600	0.848000	0.35191	-0.324000	0.08512	GAG		0.657	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		6	40	0	0	0	1	0	6	40				
HERC2P9	440248	broad.mit.edu	37	15	28929356	28929356	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:28929356C>G	ENST00000528584.1	+	0	1893					NR_036443.1				hect domain and RLD 2 pseudogene 9																		CAGAGATTCTCATTGGGAAGG	0.423																																						ENST00000528584.1																			0																																																			440248							g.chr15:28929356C>G	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28929356C>G								NR_036443.1						0	1893	+									RNA	SNP	ENST00000528584.1	37																																																																																						0.423	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		4	16	0	0	0	1	0	4	16				
CKS1B	1163	broad.mit.edu	37	1	154947273	154947273	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:154947273G>C	ENST00000308987.5	+	1	99	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	CKS1B_ENST00000368439.1_5'UTR|CKS1B_ENST00000368436.1_Missense_Mutation_p.E18Q|SHC1_ENST00000368453.4_5'Flank|SHC1_ENST00000368450.1_5'Flank|MIR4258_ENST00000580920.1_RNA	NM_001826.2	NP_001817.1	P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	18					cell division (GO:0051301)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.E18Q(1)		breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGAGGAGTTTGAGTATCGGTT	0.532																																						ENST00000368436.1																			1	Substitution - Missense(1)	p.E18Q(1)	breast(1)	breast(1)|large_intestine(1)|lung(1)	3						c.(52-54)Gag>Cag		CDC28 protein kinase regulatory subunit 1B							56.0	49.0	51.0					1																	154947273		2203	4300	6503	SO:0001583	missense	1163				cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding	g.chr1:154947273G>C	BC007751	CCDS1077.1	1q21.2	2011-04-28	2002-10-07		ENSG00000173207	ENSG00000173207			19083	protein-coding gene	gene with protein product		116900	"""CDC28 protein kinase 1B"""			2227411	Standard	NM_001826		Approved	ckshs1, CKS1	uc001fgb.3	P61024	OTTHUMG00000037413	ENST00000308987.5:c.52G>C	1.37:g.154947273G>C	ENSP00000311083:p.Glu18Gln					CKS1B_ENST00000308987.5_Missense_Mutation_p.E18Q|CKS1B_ENST00000368439.1_5'UTR	p.E18Q			P61024	CKS1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		1	115	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		18					P33551	Missense_Mutation	SNP	ENST00000308987.5	37	c.52G>C	CCDS1077.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251793	0.95336	.	.	ENSG00000173207	ENST00000368436;ENST00000308987	.	.	.	5.26	5.26	0.73747	.	0.239037	0.41712	D	0.000829	T	0.77552	0.4147	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80023	-0.1556	8	0.87932	D	0	.	17.787	0.88541	0.0:0.0:1.0:0.0	.	18	P61024	CKS1_HUMAN	Q	18	.	ENSP00000311083:E18Q	E	+	1	0	CKS1B	153213897	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.856000	0.92245	2.733000	0.93635	0.591000	0.81541	GAG		0.532	CKS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091078.1	NM_001826		10	36	0	0	0	1	0	10	36				
SPG7	6687	broad.mit.edu	37	16	89590511	89590511	+	Silent	SNP	C	C	T	rs139742860	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:89590511C>T	ENST00000268704.2	+	4	489	c.474C>T	c.(472-474)ctC>ctT	p.L158L	SPG7_ENST00000341316.2_Silent_p.L158L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	158					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGAATGCTCTCAGCACCAGCG	0.632																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(472-474)ctC>ctT		spastic paraplegia 7 (pure and complicated autosomal recessive)		C	,	4,4392	8.1+/-20.4	0,4,2194	83.0	75.0	78.0		474,474	-11.4	0.0	16	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPG7	NM_003119.2,NM_199367.1	,	0,4,6494	TT,TC,CC		0.0,0.091,0.0308	,	158/796,158/490	89590511	4,12992	2198	4300	6498	SO:0001819	synonymous_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89590511C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.474C>T	16.37:g.89590511C>T						SPG7_ENST00000341316.2_Silent_p.L158L	p.L158L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	4	489	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	158					O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.474C>T	CCDS10977.1																																																																																				0.632	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		27	57	0	0	0	1	0	27	57				
SPEN	23013	broad.mit.edu	37	1	16260241	16260241	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16260241C>G	ENST00000375759.3	+	11	7710	c.7506C>G	c.(7504-7506)atC>atG	p.I2502M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2502	Pro-rich.|RID.				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 neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGAGTGGATCACAAGGCAGG	0.587																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7504-7506)atC>atG		spen family transcriptional repressor							94.0	93.0	93.0					1																	16260241		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260241C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7506C>G	1.37:g.16260241C>G	ENSP00000364912:p.Ile2502Met						p.I2502M	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7710	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2502			Pro-rich.|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7506C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	6.014	0.370949	0.11409	.	.	ENSG00000065526	ENST00000375759	T	0.10099	2.91	5.4	3.14	0.36123	.	.	.	.	.	T	0.18425	0.0442	L	0.40543	1.245	0.24696	N	0.993285	D	0.57571	0.98	D	0.66979	0.948	T	0.09271	-1.0682	9	0.45353	T	0.12	-10.5139	4.5306	0.12002	0.1267:0.5104:0.2461:0.1169	.	2502	Q96T58	MINT_HUMAN	M	2502	ENSP00000364912:I2502M	ENSP00000364912:I2502M	I	+	3	3	SPEN	16132828	0.993000	0.37304	1.000000	0.80357	0.987000	0.75469	0.072000	0.14617	1.253000	0.44018	0.561000	0.74099	ATC		0.587	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		45	127	0	0	0	1	0	45	127				
SMARCA2	6595	broad.mit.edu	37	9	2186186	2186186	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:2186186G>A	ENST00000382203.1	+	32	4761	c.4552G>A	c.(4552-4554)Gaa>Aaa	p.E1518K	SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1500K|SMARCA2_ENST00000382186.1_Missense_Mutation_p.E182K|SMARCA2_ENST00000302401.3_Missense_Mutation_p.E206K|SMARCA2_ENST00000382185.1_Missense_Mutation_p.E164K|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1518K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1500K|SMARCA2_ENST00000324954.5_Missense_Mutation_p.E164K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1518	Poly-Glu.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		tgaaagcaatgaagaggagga	0.483																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4552-4554)Gaa>Aaa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							96.0	103.0	101.0					9																	2186186		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2186186G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4552G>A	9.37:g.2186186G>A	ENSP00000371638:p.Glu1518Lys					SMARCA2_ENST00000382185.1_Missense_Mutation_p.E164K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1500K|SMARCA2_ENST00000302401.3_Missense_Mutation_p.E206K|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1500K|SMARCA2_ENST00000382186.1_Missense_Mutation_p.E182K|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1518K|SMARCA2_ENST00000324954.5_Missense_Mutation_p.E164K	p.E1518K			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	32	4761	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1518			Poly-Glu.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.4552G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229496	0.79688	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000302401;ENST00000324954;ENST00000382186;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000416751;ENST00000382182	D;D;D;D;T;T;T;T;T;T;T	0.87334	-2.24;-2.24;-2.24;-2.24;3.03;1.19;1.19;3.18;1.19;1.19;3.03	5.47	5.47	0.80525	Bromodomain (1);	0.113843	0.38837	N	0.001543	D	0.82323	0.5012	L	0.34521	1.04	0.45005	D	0.998027	B;B;B;B	0.21606	0.01;0.01;0.058;0.01	B;B;B;B	0.21360	0.007;0.007;0.034;0.015	T	0.76804	-0.2824	10	0.30854	T	0.27	-29.5127	18.3207	0.90237	0.0:0.0:1.0:0.0	.	204;206;1500;1518	B4DNT1;B1ALF6;P51531-2;P51531	.;.;.;SMCA2_HUMAN	K	1518;1500;1518;1500;206;164;182;204;164;164;164;47	ENSP00000265773:E1518K;ENSP00000349788:E1500K;ENSP00000371638:E1518K;ENSP00000371629:E1500K;ENSP00000305411:E206K;ENSP00000324770:E164K;ENSP00000371621:E182K;ENSP00000387486:E204K;ENSP00000371620:E164K;ENSP00000371618:E164K;ENSP00000412242:E164K	ENSP00000305411:E206K	E	+	1	0	SMARCA2	2176186	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.367000	0.73099	2.583000	0.87209	0.650000	0.86243	GAA		0.483	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		20	222	0	0	0	1	0	20	222				
NAA25	80018	broad.mit.edu	37	12	112509855	112509855	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:112509855C>T	ENST00000261745.4	-	10	1128	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	294						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TAATGTACTTCTCCTTCTAAA	0.383																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(880-882)Gaa>Aaa		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							63.0	55.0	57.0					12																	112509855		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112509855C>T	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.880G>A	12.37:g.112509855C>T	ENSP00000261745:p.Glu294Lys						p.E294K	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			10	1128	-			294					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.880G>A	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347412	0.61183	.	.	ENSG00000111300	ENST00000261745	T	0.39406	1.08	5.8	5.8	0.92144	.	0.245255	0.42172	D	0.000746	T	0.36853	0.0982	L	0.40543	1.245	0.48571	D	0.999678	P;B	0.36354	0.549;0.351	B;B	0.35182	0.197;0.089	T	0.09335	-1.0679	10	0.13470	T	0.59	-16.624	20.0706	0.97721	0.0:1.0:0.0:0.0	.	294;294	A8K8X0;Q14CX7	.;NAA25_HUMAN	K	294	ENSP00000261745:E294K	ENSP00000261745:E294K	E	-	1	0	NAA25	110994238	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.144000	0.50616	2.744000	0.94065	0.655000	0.94253	GAA		0.383	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		14	69	0	0	0	1	0	14	69				
TASP1	55617	broad.mit.edu	37	20	13371100	13371100	+	Splice_Site	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:13371100C>T	ENST00000337743.4	-	14	1291		c.e14-1		TASP1_ENST00000480436.1_Splice_Site|TASP1_ENST00000539805.1_Splice_Site	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1						positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AAATGTGAGTCTGCAGAGAGA	0.572																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.e14-1		taspase, threonine aspartase, 1							62.0	48.0	53.0					20																	13371100		2203	4300	6503	SO:0001630	splice_region_variant	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13371100C>T	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.1171-1G>A	20.37:g.13371100C>T						TASP1_ENST00000480436.1_Splice_Site|TASP1_ENST00000539805.1_Splice_Site		NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			14	1291	-								B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Splice_Site	SNP	ENST00000337743.4	37		CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560958	0.65538	.	.	ENSG00000089123	ENST00000337743	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5139	0.90928	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TASP1	13319100	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.927000	0.70080	2.818000	0.97014	0.591000	0.81541	.		0.572	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	Intron	6	40	0	0	0	1	0	6	40				
NUMA1	4926	broad.mit.edu	37	11	71724588	71724588	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:71724588G>A	ENST00000393695.3	-	15	4292	c.3961C>T	c.(3961-3963)Cgt>Tgt	p.R1321C	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1321C|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCTCCGCACGCTCAGCCTGT	0.627			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3961-3963)Cgt>Tgt		nuclear mitotic apparatus protein 1							37.0	39.0	39.0					11																	71724588		2199	4291	6490	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724588G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3961C>T	11.37:g.71724588G>A	ENSP00000377298:p.Arg1321Cys					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1321C	p.R1321C	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	4292	-			1321						Missense_Mutation	SNP	ENST00000393695.3	37	c.3961C>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951038	0.53186	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.15372	2.43;2.43	5.14	5.14	0.70334	.	0.171410	0.29159	N	0.012966	T	0.32164	0.0820	L	0.47716	1.5	0.46096	D	0.998865	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.63703	0.917;0.917;0.881;0.917	T	0.01208	-1.1418	10	0.87932	D	0	.	13.3824	0.60775	0.0:0.0:0.8426:0.1574	.	1327;805;1321;1321	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	C	1321;1321;884;290	ENSP00000351851:R1321C;ENSP00000377298:R1321C	ENSP00000351851:R1321C	R	-	1	0	NUMA1	71402236	0.995000	0.38212	0.991000	0.47740	0.538000	0.34931	1.850000	0.39328	2.665000	0.90641	0.655000	0.94253	CGT		0.627	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			13	33	0	0	0	1	0	13	33				
ITIH1	3697	broad.mit.edu	37	3	52823859	52823859	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:52823859G>A	ENST00000273283.2	+	19	2334	c.2310G>A	c.(2308-2310)ctG>ctA	p.L770L	ITIH1_ENST00000405128.3_Silent_p.L136L|ITIH1_ENST00000537050.1_Silent_p.L482L|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.L628L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	770	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AAGCTGTGCTGCGGCAGGACG	0.632																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2308-2310)ctG>ctA		inter-alpha-trypsin inhibitor heavy chain 1							58.0	57.0	57.0					3																	52823859		2203	4300	6503	SO:0001819	synonymous_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52823859G>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2310G>A	3.37:g.52823859G>A						ITIH1_ENST00000540715.1_Silent_p.L628L|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Silent_p.L482L|ITIH1_ENST00000405128.3_Silent_p.L136L	p.L770L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	19	2334	+			770			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	c.2310G>A	CCDS2864.1																																																																																				0.632	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		22	55	0	0	0	1	0	22	55				
IRF2	3660	broad.mit.edu	37	4	185309983	185309983	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:185309983C>T	ENST00000393593.3	-	9	1186	c.979G>A	c.(979-981)Gac>Aac	p.D327N		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	327					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)		GTCTCCCGGTCTGGCCGACTG	0.597																																						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.(979-981)Gac>Aac		interferon regulatory factor 2							61.0	69.0	66.0					4																	185309983		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.chr4:185309983C>T		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.979G>A	4.37:g.185309983C>T	ENSP00000377218:p.Asp327Asn						p.D327N	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)	9	1186	-		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)	327					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.979G>A	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069024	0.55539	.	.	ENSG00000168310	ENST00000393593	D	0.98075	-4.7	4.22	4.22	0.49857	.	1.236050	0.05430	N	0.545693	D	0.96531	0.8868	L	0.43152	1.355	0.48185	D	0.999603	B	0.20671	0.047	B	0.21708	0.036	D	0.83593	0.0124	10	0.49607	T	0.09	.	17.1448	0.86763	0.0:1.0:0.0:0.0	.	327	P14316	IRF2_HUMAN	N	327	ENSP00000377218:D327N	ENSP00000377218:D327N	D	-	1	0	IRF2	185546977	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	5.189000	0.65098	2.370000	0.80446	0.561000	0.74099	GAC		0.597	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			25	73	0	0	0	1	0	25	73				
CFHR1	3078	broad.mit.edu	37	1	196794654	196794654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:196794654G>T	ENST00000320493.5	+	2	194	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Nonsense_Mutation_p.E36*	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	36	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TCTATATGATGAAGAAAAATA	0.294																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(106-108)Gaa>Taa		complement factor H-related 1							37.0	45.0	43.0					1																	196794654		1835	4112	5947	SO:0001587	stop_gained	3078				complement activation	extracellular space		g.chr1:196794654G>T	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.106G>T	1.37:g.196794654G>T	ENSP00000314299:p.Glu36*					CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Nonsense_Mutation_p.E36*	p.E36*	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			2	194	+			36			Sushi 1.		A8K465|Q3B774|Q9UJ17	Nonsense_Mutation	SNP	ENST00000320493.5	37	c.106G>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163433	0.57476	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	.	.	.	4.02	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.19575	N	0.999961	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	5.5097	0.16874	0.1165:0.2043:0.6792:0.0	.	.	.	.	X	36	.	ENSP00000314299:E36X	E	+	1	0	CFHR1	195061277	0.025000	0.19082	0.755000	0.31263	0.221000	0.24807	0.452000	0.21795	0.873000	0.35799	0.430000	0.28490	GAA		0.294	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		9	20	1	0	2.17888e-05	1	2.21927e-05	9	20				
PMPCB	9512	broad.mit.edu	37	7	102937969	102937969	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:102937969C>T	ENST00000249269.4	+	1	101	c.63C>T	c.(61-63)ttC>ttT	p.F21F	PMPCB_ENST00000428154.1_Silent_p.F21F|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	21					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGGGTTTCAGCGAGAGTC	0.647											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000249269.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(61-63)ttC>ttT		peptidase (mitochondrial processing) beta							37.0	42.0	40.0					7																	102937969		2203	4299	6502	SO:0001819	synonymous_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102937969C>T	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.63C>T	7.37:g.102937969C>T			OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1370	PMPCB_ENST00000428154.1_Silent_p.F21F|PMPCB_ENST00000420236.2_5'UTR	p.F21F	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN			1	101	+			21					O60416|Q96FV4	Silent	SNP	ENST00000249269.4	37	c.63C>T	CCDS5730.1																																																																																				0.647	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		6	25	0	0	0	1	0	6	25				
HMCN1	83872	broad.mit.edu	37	1	186088921	186088921	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:186088921C>T	ENST00000271588.4	+	79	12230	c.12001C>T	c.(12001-12003)Ctg>Ttg	p.L4001L	HMCN1_ENST00000367492.2_Silent_p.L4001L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4001	Ig-like C2-type 39.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACGTCATTCTGAACAATCC	0.383																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(12001-12003)Ctg>Ttg		hemicentin 1							100.0	92.0	95.0					1																	186088921		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186088921C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12001C>T	1.37:g.186088921C>T						HMCN1_ENST00000367492.2_Silent_p.L4001L	p.L4001L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			79	12230	+			4001			Ig-like C2-type 39.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.12001C>T	CCDS30956.1																																																																																				0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		26	78	0	0	0	1	0	26	78				
SKIV2L	6499	broad.mit.edu	37	6	31927109	31927109	+	Silent	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:31927109C>A	ENST00000375394.2	+	2	171	c.58C>A	c.(58-60)Cgg>Agg	p.R20R	NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000444811.2_5'Flank|SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000375425.5_5'Flank|MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	20					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCTACCCCTTCGGGCCGTGGA	0.572																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(58-60)Cgg>Agg		superkiller viralicidic activity 2-like (S. cerevisiae)							262.0	303.0	289.0					6																	31927109		1511	2709	4220	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31927109C>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.58C>A	6.37:g.31927109C>A						SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	p.R20R	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			2	171	+			20					O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.58C>A	CCDS4731.1																																																																																				0.572	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			86	298	1	0	1.38319e-45	1	1.49181e-45	86	298				
ZNF396	252884	broad.mit.edu	37	18	32953515	32953515	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:32953515G>A	ENST00000589332.1	-	3	598	c.467C>T	c.(466-468)tCa>tTa	p.S156L	ZNF396_ENST00000306346.1_Missense_Mutation_p.S156L|ZNF396_ENST00000586687.1_Missense_Mutation_p.S156L			Q96N95	ZN396_HUMAN	zinc finger protein 396	156					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGTGATTTCTGAAGGTGCTAG	0.473																																						ENST00000306346.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(466-468)tCa>tTa		zinc finger protein 396							118.0	100.0	106.0					18																	32953515		2203	4300	6503	SO:0001583	missense	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32953515G>A	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.467C>T	18.37:g.32953515G>A	ENSP00000466500:p.Ser156Leu					ZNF396_ENST00000586687.1_Missense_Mutation_p.S156L|ZNF396_ENST00000589332.1_Missense_Mutation_p.S156L	p.S156L	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN			3	598	-			156					A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37	c.467C>T		.	.	.	.	.	.	.	.	.	.	G	2.929	-0.221505	0.06061	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.06449	3.3	4.57	-0.432	0.12291	.	1.655760	0.04159	U	0.322623	T	0.01905	0.0060	N	0.01352	-0.895	0.09310	N	1	B	0.25169	0.119	B	0.21917	0.037	T	0.38520	-0.9657	10	0.02654	T	1	.	4.3375	0.11094	0.0:0.3519:0.3498:0.2983	.	156	Q96N95-3	.	L	156	ENSP00000302310:S156L	ENSP00000302310:S156L	S	-	2	0	ZNF396	31207513	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.110000	0.10824	0.006000	0.14734	-0.311000	0.09066	TCA		0.473	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		24	57	0	0	0	1	0	24	57				
NUTM2G	441457	broad.mit.edu	37	9	99700176	99700176	+	Missense_Mutation	SNP	G	G	A	rs533234971		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:99700176G>A	ENST00000372322.3	+	6	1354	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Missense_Mutation_p.V445I	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	445																	GGTGGAGGCCGTCATTCACCC	0.567													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16686	0.0		0.0	False		,,,				2504	0.0					ENST00000354649.3																			0											c.(1333-1335)Gtc>Atc		NUT family member 2G							40.0	43.0	42.0					9																	99700176		1820	4048	5868	SO:0001583	missense	441457							g.chr9:99700176G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1333G>A	9.37:g.99700176G>A	ENSP00000361397:p.Val445Ile					NUTM2G_ENST00000372322.3_Missense_Mutation_p.V445I|HIATL2_ENST00000506067.1_Intron	p.V445I	NM_001045477.2	NP_001038942.1					6	2048	+								A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.1333G>A	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.392594	0.25118	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.27720	1.65;2.46	1.01	-1.29	0.09288	.	0.559230	0.16018	N	0.233458	T	0.17195	0.0413	L	0.33137	0.985	0.09310	N	1	B	0.19200	0.034	B	0.15870	0.014	T	0.14671	-1.0464	10	0.32370	T	0.25	.	4.0984	0.10002	0.4842:0.0:0.5158:0.0	.	445	Q5VZR2-2	.	I	445;445;294;326	ENSP00000346670:V445I;ENSP00000361397:V445I	ENSP00000346670:V445I	V	+	1	0	FAM22G	98739997	0.910000	0.30920	0.030000	0.17652	0.423000	0.31445	1.105000	0.31086	-0.442000	0.07190	-0.472000	0.04984	GTC		0.567	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		26	125	0	0	0	1	0	26	125				
MAP2K4	6416	broad.mit.edu	37	17	12016649	12016649	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:12016649G>A	ENST00000353533.5	+	7	848	c.785G>A	c.(784-786)aGa>aAa	p.R262K	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.R273K	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|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)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GCCAAGACAAGAGATGCTGGC	0.463			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(817-819)aGa>aAa		mitogen-activated protein kinase kinase 4							105.0	101.0	102.0					17																	12016649		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12016649G>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.785G>A	17.37:g.12016649G>A	ENSP00000262445:p.Arg262Lys					MAP2K4_ENST00000353533.5_Missense_Mutation_p.R262K	p.R273K			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	8	871	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	262			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.818G>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194237	0.38806	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.64260	-0.09;-0.09	4.41	4.41	0.53225	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	0.43055	0.1230	N	0.16307	0.4	0.80722	D	1	B;B;B	0.12630	0.005;0.005;0.006	B;B;B	0.20577	0.015;0.03;0.028	T	0.36915	-0.9728	10	0.02654	T	1	.	15.9715	0.80025	0.0:0.0:1.0:0.0	.	134;273;262	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	K	262;273;239;134	ENSP00000262445:R262K;ENSP00000410402:R273K	ENSP00000262445:R262K	R	+	2	0	MAP2K4	11957374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.657000	0.98554	2.297000	0.77311	0.591000	0.81541	AGA		0.463	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			25	51	0	0	0	1	0	25	51				
MYBPC2	4606	broad.mit.edu	37	19	50962508	50962508	+	Silent	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:50962508G>T	ENST00000357701.5	+	23	2787	c.2736G>T	c.(2734-2736)ctG>ctT	p.L912L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	912	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGTACGAGCTGAGCGTGCAGA	0.706																																						ENST00000357701.5																			0				breast(1)	1						c.(2734-2736)ctG>ctT		myosin binding protein C, fast type							23.0	27.0	26.0					19																	50962508		2104	4224	6328	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50962508G>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2736G>T	19.37:g.50962508G>T							p.L912L	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	23	2787	+		all_neural(266;0.057)	912			Ig-like C2-type 6.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.2736G>T	CCDS46152.1																																																																																				0.706	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		9	39	1	0	0.0809354	1	0.0813984	9	39				
NIPBL	25836	broad.mit.edu	37	5	36955632	36955632	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:36955632C>G	ENST00000282516.8	+	3	622	c.123C>G	c.(121-123)ctC>ctG	p.L41L	NIPBL_ENST00000448238.2_Silent_p.L41L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	41					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAGCCTTCTCTTTAATGCAC	0.413																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(121-123)ctC>ctG		Nipped-B homolog (Drosophila)							140.0	130.0	133.0					5																	36955632		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36955632C>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.123C>G	5.37:g.36955632C>G						NIPBL_ENST00000448238.2_Silent_p.L41L	p.L41L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		3	622	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		41					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.123C>G	CCDS3920.1																																																																																				0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		26	121	0	0	0	1	0	26	121				
RBBP8	5932	broad.mit.edu	37	18	20581637	20581637	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:20581637C>T	ENST00000399722.2	+	15	2583	c.2232C>T	c.(2230-2232)ttC>ttT	p.F744F	RBBP8_ENST00000327155.5_Silent_p.F744F|RBBP8_ENST00000399725.2_Silent_p.F744F|RN7SL745P_ENST00000484900.2_RNA|RBBP8_ENST00000360790.5_Silent_p.F749F	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	744					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAGACAGTTTCTCCCAAGCAG	0.363								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(2230-2232)ttC>ttT	Homologous recombination	retinoblastoma binding protein 8							129.0	134.0	132.0					18																	20581637		2203	4300	6503	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20581637C>T	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2232C>T	18.37:g.20581637C>T						RBBP8_ENST00000360790.5_Silent_p.F749F|RBBP8_ENST00000399725.2_Silent_p.F744F|RBBP8_ENST00000327155.5_Silent_p.F744F	p.F744F	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		15	2583	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		744					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.2232C>T	CCDS11875.1																																																																																				0.363	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		29	116	0	0	0	1	0	29	116				
SLC23A3	151295	broad.mit.edu	37	2	220032949	220032949	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:220032949G>C	ENST00000409878.3	-	6	798	c.766C>G	c.(766-768)Cac>Gac	p.H256D	SLC23A3_ENST00000455516.2_Missense_Mutation_p.H264D|SLC23A3_ENST00000396775.3_Nonsense_Mutation_p.S137*|SLC23A3_ENST00000295738.7_Silent_p.L245L	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	256					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGGAGTGTGAGTTGATGAC	0.587																																						ENST00000396775.3																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11						c.(409-411)tCa>tGa		solute carrier family 23, member 3							48.0	50.0	50.0					2																	220032949		2071	4228	6299	SO:0001583	missense	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220032949G>C	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.766C>G	2.37:g.220032949G>C	ENSP00000386473:p.His256Asp					SLC23A3_ENST00000409878.3_Missense_Mutation_p.H256D|SLC23A3_ENST00000295738.7_Silent_p.L245L|SLC23A3_ENST00000455516.2_Missense_Mutation_p.H264D	p.S137*			Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	694	-		Renal(207;0.0474)	288					B7Z512|Q2PYN6|Q96NA6	Nonsense_Mutation	SNP	ENST00000409878.3	37	c.410C>G	CCDS46518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.77|17.77	3.470913|3.470913	0.63625|0.63625	.|.	.|.	ENSG00000213901|ENSG00000213901	ENST00000409878;ENST00000455516;ENST00000409370|ENST00000396775	T;T;T|.	0.44881|.	2.23;2.23;0.91|.	5.22|5.22	2.14|2.14	0.27477|0.27477	.|.	.|.	.|.	.|.	.|.	T|.	0.28764|.	0.0713|.	.|.	.|.	.|.	0.58432|0.58432	A|A	0.999999|0.999999	B;B|.	0.30563|.	0.285;0.014|.	B;B|.	0.25614|.	0.062;0.033|.	T|.	0.28650|.	-1.0037|.	6|.	.|.	.|.	.|.	.|.	2.0928|2.0928	0.03660|0.03660	0.1743:0.2724:0.4138:0.1396|0.1743:0.2724:0.4138:0.1396	.|.	256;264|.	Q6PIS1;B7Z512|.	S23A3_HUMAN;.|.	D|X	256;264;256|137	ENSP00000386473:H256D;ENSP00000406546:H264D;ENSP00000386989:H256D|.	.|.	H|S	-|-	1|2	0|0	SLC23A3|SLC23A3	219741193|219741193	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.087000|0.087000	0.18053|0.18053	0.147000|0.147000	0.16202|0.16202	0.250000|0.250000	0.21479|0.21479	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.587	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		9	30	0	0	0	1	0	9	30				
NMUR1	10316	broad.mit.edu	37	2	232393418	232393418	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:232393418G>A	ENST00000305141.4	-	2	447	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	105					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGCAGGTCCGACACGGCCAG	0.632																																						ENST00000305141.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(313-315)tCg>tTg		neuromedin U receptor 1							87.0	91.0	90.0					2																	232393418		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232393418G>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.314C>T	2.37:g.232393418G>A	ENSP00000305877:p.Ser105Leu						p.S105L	NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	447	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	105					O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.314C>T	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	g	29.9	5.047412	0.93740	.	.	ENSG00000171596	ENST00000305141	T	0.74002	-0.8	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.125962	0.56097	D	0.000031	D	0.91284	0.7252	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94413	0.7633	10	0.87932	D	0	-17.1193	17.5569	0.87894	0.0:0.0:1.0:0.0	.	105	Q9HB89	NMUR1_HUMAN	L	105	ENSP00000305877:S105L	ENSP00000305877:S105L	S	-	2	0	NMUR1	232101662	1.000000	0.71417	0.680000	0.29994	0.971000	0.66376	7.835000	0.86780	2.388000	0.81334	0.555000	0.69702	TCG		0.632	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		23	66	0	0	0	1	0	23	66				
SLCO4A1	28231	broad.mit.edu	37	20	61288183	61288183	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:61288183C>G	ENST00000370507.1	+	1	473	c.377C>G	c.(376-378)aCa>aGa	p.T126R	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.T126R			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	126					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCATCAACACAGTCATCACC	0.617																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(376-378)aCa>aGa		solute carrier organic anion transporter family, member 4A1							50.0	49.0	49.0					20																	61288183		2203	4300	6503	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288183C>G	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.377C>G	20.37:g.61288183C>G	ENSP00000359538:p.Thr126Arg					SLCO4A1_ENST00000370507.1_Missense_Mutation_p.T126R	p.T126R	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		2	582	+	Breast(26;3.65e-08)		126					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.377C>G	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831208	0.32329	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.39787	1.06;1.06	4.58	3.6	0.41247	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.63733	0.2536	M	0.83483	2.645	0.58432	D	0.999993	D	0.58620	0.983	P	0.61874	0.895	T	0.69331	-0.5173	10	0.59425	D	0.04	.	14.2606	0.66083	0.0:0.8494:0.1506:0.0	.	126	Q96BD0	SO4A1_HUMAN	R	126	ENSP00000217159:T126R;ENSP00000359538:T126R	ENSP00000217159:T126R	T	+	2	0	SLCO4A1	60758628	0.993000	0.37304	0.705000	0.30386	0.032000	0.12392	3.089000	0.50183	0.846000	0.35142	0.462000	0.41574	ACA		0.617	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		13	69	0	0	0	1	0	13	69				
OR5D18	219438	broad.mit.edu	37	11	55587921	55587921	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:55587921C>T	ENST00000333976.4	+	1	836	c.816C>T	c.(814-816)gtC>gtT	p.V272V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	272						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(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGCACACAGTCAAAGTGGCCT	0.498																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(814-816)gtC>gtT		olfactory receptor, family 5, subfamily D, member 18							89.0	86.0	87.0					11																	55587921		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587921C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.816C>T	11.37:g.55587921C>T							p.V272V	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	836	+		all_epithelial(135;0.208)	272					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.816C>T	CCDS31510.1																																																																																				0.498	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		26	81	0	0	0	1	0	26	81				
APH1A	51107	broad.mit.edu	37	1	150241120	150241120	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150241120G>A	ENST00000369109.3	-	1	279	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.R31C|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.R31C	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	31					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGATAACGCGAAGCGGGTCC	0.647																																						ENST00000360244.4																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(91-93)Cgc>Tgc		APH1A gamma secretase subunit							20.0	26.0	24.0					1																	150241120		1883	4097	5980	SO:0001583	missense	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150241120G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.91C>T	1.37:g.150241120G>A	ENSP00000358105:p.Arg31Cys					C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.R31C|APH1A_ENST00000369109.3_Missense_Mutation_p.R31C	p.R31C	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	583	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		31					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	c.91C>T	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955280	0.73902	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.99	4.99	0.66335	.	0.134854	0.45126	D	0.000388	T	0.64897	0.2640	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;0.998;0.999;1.0	D;P;P;D;D	0.69824	0.966;0.667;0.906;0.943;0.961	T	0.71337	-0.4623	10	0.87932	D	0	-5.2281	10.8073	0.46524	0.0:0.0:0.8115:0.1885	.	31;31;31;31;31	B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;APH1A_HUMAN	C	31	ENSP00000358105:R31C;ENSP00000353380:R31C;ENSP00000397473:R31C;ENSP00000236017:R31C	ENSP00000236017:R31C	R	-	1	0	APH1A	148507744	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.551000	0.45820	2.586000	0.87340	0.561000	0.74099	CGC		0.647	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		6	20	0	0	0	1	0	6	20				
CFAP43	80217	broad.mit.edu	37	10	105926435	105926435	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:105926435C>G	ENST00000357060.3	-	23	2965	c.2850G>C	c.(2848-2850)ttG>ttC	p.L950F	WDR96_ENST00000428666.1_Missense_Mutation_p.L951F	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGTTTAATCAACTTAACTC	0.383																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2848-2850)ttG>ttC		WD repeat domain 96							152.0	154.0	154.0					10																	105926435		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105926435C>G																												ENST00000357060.3:c.2850G>C	10.37:g.105926435C>G	ENSP00000349568:p.Leu950Phe					WDR96_ENST00000428666.1_Missense_Mutation_p.L951F	p.L950F	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			23	2965	-			950						Missense_Mutation	SNP	ENST00000357060.3	37	c.2850G>C	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.022|0.022	-1.413005|-1.413005	0.01145|0.01145	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000434629	T;T|.	0.16457|.	2.35;2.34|.	5.71|5.71	2.81|2.81	0.32909|0.32909	.|.	0.947377|.	0.08742|.	N|.	0.900379|.	T|.	0.26955|.	0.0660|.	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B;B|.	0.21905|.	0.062;0.01|.	B;B|.	0.22152|.	0.038;0.012|.	T|.	0.18555|.	-1.0333|.	10|.	0.07990|.	T|.	0.79|.	.|.	4.6537|4.6537	0.12606|0.12606	0.0:0.5425:0.1534:0.3041|0.0:0.5425:0.1534:0.3041	.|.	951;950|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	F|S	950;951|311	ENSP00000349568:L950F;ENSP00000400289:L951F|.	ENSP00000349568:L950F|.	L|X	-|-	3|2	2|2	WDR96|WDR96	105916425|105916425	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.028000|0.028000	0.11728|0.11728	-0.101000|-0.101000	0.10973|0.10973	0.871000|0.871000	0.35750|0.35750	0.561000|0.561000	0.74099|0.74099	TTG|TGA		0.383	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				41	127	0	0	0	1	0	41	127				
SPNS1	83985	broad.mit.edu	37	16	28992821	28992821	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:28992821C>T	ENST00000311008.11	+	6	1071	c.694C>T	c.(694-696)Ctg>Ttg	p.L232L	SPNS1_ENST00000323081.8_Silent_p.L159L|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000334536.8_Silent_p.L232L|SPNS1_ENST00000352260.7_Silent_p.L210L|SPNS1_ENST00000565975.1_Silent_p.L277L|RP11-264B17.4_ENST00000567209.1_RNA|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	232					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGTGGCCGTTCTGCTGCTGTT	0.632											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000311008.11																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(694-696)Ctg>Ttg		spinster homolog 1 (Drosophila)							67.0	68.0	68.0					16																	28992821		2197	4300	6497	SO:0001819	synonymous_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28992821C>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.694C>T	16.37:g.28992821C>T			OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	806	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Silent_p.L277L|SPNS1_ENST00000334536.8_Silent_p.L232L|SPNS1_ENST00000352260.7_Silent_p.L210L|SPNS1_ENST00000323081.8_Silent_p.L159L|SPNS1_ENST00000561868.1_3'UTR	p.L232L	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN			6	1071	+			232					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	c.694C>T	CCDS10646.1																																																																																				0.632	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		14	44	0	0	0	1	0	14	44				
POGZ	23126	broad.mit.edu	37	1	151400332	151400332	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:151400332G>C	ENST00000271715.2	-	7	1359	c.1045C>G	c.(1045-1047)Caa>Gaa	p.Q349E	POGZ_ENST00000392723.1_Missense_Mutation_p.Q296E|POGZ_ENST00000368863.2_Missense_Mutation_p.Q254E|POGZ_ENST00000409503.1_Missense_Mutation_p.Q340E|POGZ_ENST00000361398.3_Missense_Mutation_p.Q296E|POGZ_ENST00000491586.1_Missense_Mutation_p.Q296E|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000531094.1_Missense_Mutation_p.Q287E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	349					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGTTCTTTGAGAGCCATGA	0.468																																						ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(1045-1047)Caa>Gaa		pogo transposable element with ZNF domain							59.0	53.0	55.0					1																	151400332		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151400332G>C	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1045C>G	1.37:g.151400332G>C	ENSP00000271715:p.Gln349Glu					POGZ_ENST00000531094.1_Missense_Mutation_p.Q287E|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000361398.3_Missense_Mutation_p.Q296E|POGZ_ENST00000368863.2_Missense_Mutation_p.Q254E|POGZ_ENST00000392723.1_Missense_Mutation_p.Q296E|POGZ_ENST00000491586.1_Missense_Mutation_p.Q296E|POGZ_ENST00000409503.1_Missense_Mutation_p.Q340E	p.Q349E	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	1359	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		349					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.1045C>G	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508978	0.64410	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	T;T;T;T;T;T;T	0.01172	5.78;5.81;5.78;5.82;5.79;5.79;5.23	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000002	T	0.00967	0.0032	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P;P;P	0.48911	0.606;0.713;0.917;0.471;0.917;0.917;0.713	B;P;P;P;P;P;P	0.60682	0.178;0.68;0.878;0.535;0.878;0.878;0.68	T	0.80930	-0.1162	10	0.13853	T	0.58	-11.9543	15.0523	0.71885	0.0:0.0:1.0:0.0	.	287;340;254;349;296;296;349	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	E	296;349;296;254;340;287;296;349	ENSP00000376484:Q296E;ENSP00000271715:Q349E;ENSP00000354467:Q296E;ENSP00000357856:Q254E;ENSP00000386836:Q340E;ENSP00000431259:Q287E;ENSP00000418408:Q296E	ENSP00000271715:Q349E	Q	-	1	0	POGZ	149666956	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.269000	0.65542	2.569000	0.86673	0.563000	0.77884	CAA		0.468	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		12	41	0	0	0	1	0	12	41				
CTAGE1	64693	broad.mit.edu	37	18	19996130	19996130	+	5'Flank	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:19996130C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.D549N			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GTTAACCTATCACAGCTTGAT	0.547																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1645-1647)Gat>Aat		cutaneous T-cell lymphoma-associated antigen 1							92.0	94.0	93.0					18																	19996130		2202	4300	6502	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996130C>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996130C>T	Exception_encountered						p.D549N	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	1748	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		549					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1645G>A		.	.	.	.	.	.	.	.	.	.	C	9.495	1.101730	0.20632	.	.	ENSG00000212710	ENST00000391403	T	0.42513	0.97	0.779	0.779	0.18550	.	.	.	.	.	T	0.52980	0.1768	M	0.74881	2.28	0.09310	N	1	D	0.56035	0.974	P	0.58454	0.839	T	0.37934	-0.9684	8	.	.	.	.	4.8937	0.13740	0.0:1.0:0.0:0.0	.	549	Q96RT6	CTGE2_HUMAN	N	549	ENSP00000375220:D549N	.	D	-	1	0	CTAGE1	18250128	0.998000	0.40836	0.029000	0.17559	0.026000	0.11368	2.331000	0.43894	0.697000	0.31718	0.479000	0.44913	GAT		0.547	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		33	97	0	0	0	1	0	33	97				
EIF4G2	1982	broad.mit.edu	37	11	10823243	10823243	+	Silent	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:10823243G>T	ENST00000526148.1	-	14	1888	c.1378C>A	c.(1378-1380)Cgg>Agg	p.R460R	SNORD97_ENST00000459187.1_RNA|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Silent_p.R460R|EIF4G2_ENST00000339995.5_Silent_p.R460R|EIF4G2_ENST00000396525.2_Intron	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)		TTAGAAAACCGAGGTGGCATA	0.423																																						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.(1378-1380)Cgg>Agg		eukaryotic translation initiation factor 4 gamma, 2							144.0	138.0	140.0					11																	10823243		2201	4294	6495	SO:0001819	synonymous_variant	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.chr11:10823243G>T	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.1378C>A	11.37:g.10823243G>T						EIF4G2_ENST00000396525.2_Intron|EIF4G2_ENST00000525681.1_Silent_p.R460R|EIF4G2_ENST00000339995.5_Silent_p.R460R	p.R460R	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)	14	1888	-			460						Silent	SNP	ENST00000526148.1	37	c.1378C>A	CCDS31428.1																																																																																				0.423	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		36	112	1	0	4.00102e-26	1	4.29938e-26	36	112				
SLC35D1	23169	broad.mit.edu	37	1	67507963	67507963	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:67507963G>A	ENST00000235345.5	-	8	770	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	SLC35D1_ENST00000506472.2_Silent_p.L150L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	229					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						AGGGTGGGCAGAATCATGAAC	0.398																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(685-687)Ctg>Ttg		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)						277.0	267.0	271.0					1																	67507963		2203	4300	6503	SO:0001819	synonymous_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67507963G>A	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.685C>T	1.37:g.67507963G>A						SLC35D1_ENST00000506472.2_Silent_p.L150L	p.L229L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			8	770	-			229					A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	c.685C>T	CCDS636.1																																																																																				0.398	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		53	204	0	0	0	1	0	53	204				
NAGK	55577	broad.mit.edu	37	2	71305524	71305524	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:71305524G>A	ENST00000244204.6	+	10	983	c.921G>A	c.(919-921)ctG>ctA	p.L307L	NAGK_ENST00000455662.2_Silent_p.L353L|NAGK_ENST00000443872.2_Silent_p.L159L|NAGK_ENST00000443938.2_Silent_p.L303L|NAGK_ENST00000418807.3_Silent_p.L256L			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	307					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	TGATGAAGCTGAGGCACTCCT	0.587																																						ENST00000418807.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18						c.(766-768)ctG>ctA		N-acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						59.0	51.0	54.0					2																	71305524		2203	4300	6503	SO:0001819	synonymous_variant	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71305524G>A	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.921G>A	2.37:g.71305524G>A						NAGK_ENST00000455662.2_Silent_p.L353L|NAGK_ENST00000244204.5_Silent_p.L307L	p.L256L			Q9UJ70	NAGK_HUMAN			9	932	+			307					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Silent	SNP	ENST00000244204.6	37	c.768G>A		.	.	.	.	.	.	.	.	.	.	G	6.534	0.466771	0.12402	.	.	ENSG00000124357	ENST00000524537	.	.	.	4.57	-0.571	0.11749	.	.	.	.	.	T	0.42337	0.1198	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20739	-1.0266	4	.	.	.	-39.1586	2.7537	0.05288	0.1691:0.4127:0.2776:0.1407	.	.	.	.	K	72	.	.	E	+	1	0	NAGK	71159032	0.140000	0.22579	0.034000	0.17996	0.953000	0.61014	0.365000	0.20348	-0.335000	0.08451	-0.302000	0.09304	GAG		0.587	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			11	32	0	0	0	1	0	11	32				
CHRND	1144	broad.mit.edu	37	2	233393663	233393663	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:233393663G>A	ENST00000258385.3	+	6	633	c.601G>A	c.(601-603)Gat>Aat	p.D201N	CHRND_ENST00000543200.1_Missense_Mutation_p.D186N|CHRND_ENST00000536614.1_Intron|CHRND_ENST00000457943.2_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	201					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GATCATCATTGATCCTGAAGG	0.587																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(601-603)Gat>Aat		cholinergic receptor, nicotinic, delta (muscle)							98.0	90.0	93.0					2																	233393663		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233393663G>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.601G>A	2.37:g.233393663G>A	ENSP00000258385:p.Asp201Asn					CHRND_ENST00000543200.1_Missense_Mutation_p.D186N|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Intron	p.D201N	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	6	633	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	201					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.601G>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519525	0.85495	.	.	ENSG00000135902	ENST00000543200;ENST00000258385	T;T	0.80304	-1.36;-1.36	4.92	4.92	0.64577	Neurotransmitter-gated ion-channel ligand-binding (3);	0.269640	0.40222	N	0.001158	D	0.88753	0.6522	M	0.82923	2.615	0.80722	D	1	P;P	0.47106	0.89;0.889	P;P	0.56163	0.653;0.793	D	0.89151	0.3523	9	.	.	.	.	18.5315	0.90993	0.0:0.0:1.0:0.0	.	186;201	B4DT92;Q07001	.;ACHD_HUMAN	N	186;201	ENSP00000438380:D186N;ENSP00000258385:D201N	.	D	+	1	0	CHRND	233101907	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	9.683000	0.98657	2.459000	0.83118	0.561000	0.74099	GAT		0.587	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			19	45	0	0	0	1	0	19	45				
PRR25	388199	broad.mit.edu	37	16	855650	855650	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:855650C>G	ENST00000301698.1	+	1	208	c.208C>G	c.(208-210)Cac>Gac	p.H70D		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	70										large_intestine(1)|lung(1)|skin(1)	3						GGCCGGCACTCACTTCCTGGC	0.627																																						ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(208-210)Cac>Gac		proline rich 25							26.0	35.0	32.0					16																	855650		1973	4137	6110	SO:0001583	missense	388199							g.chr16:855650C>G	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.208C>G	16.37:g.855650C>G	ENSP00000301698:p.His70Asp						p.H70D	NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN			1	208	+			70						Missense_Mutation	SNP	ENST00000301698.1	37	c.208C>G	CCDS45372.1	.	.	.	.	.	.	.	.	.	.	C	0.208	-1.039135	0.02013	.	.	ENSG00000167945	ENST00000301698	T	0.36878	1.23	0.701	-0.467	0.12150	.	.	.	.	.	T	0.17365	0.0417	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.21360	0.034	T	0.14615	-1.0466	9	0.87932	D	0	.	4.9641	0.14082	0.0:0.7391:0.0:0.2609	.	70	Q96S07	PRR25_HUMAN	D	70	ENSP00000301698:H70D	ENSP00000301698:H70D	H	+	1	0	PRR25	795651	0.003000	0.15002	0.001000	0.08648	0.012000	0.07955	-0.149000	0.10204	-0.199000	0.10317	0.313000	0.20887	CAC		0.627	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		8	32	0	0	0	1	0	8	32				
LRRC8C	84230	broad.mit.edu	37	1	90178873	90178873	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:90178873C>T	ENST00000370454.4	+	3	999	c.744C>T	c.(742-744)ttC>ttT	p.F248F	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	248					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGAAGAAGTTCAGGCTGCATG	0.403																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(742-744)ttC>ttT		leucine rich repeat containing 8 family, member C							104.0	106.0	105.0					1																	90178873		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178873C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.744C>T	1.37:g.90178873C>T						LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	p.F248F	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	999	+		all_lung(203;0.126)	248					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.744C>T	CCDS725.1																																																																																				0.403	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		44	171	0	0	0	1	0	44	171				
EFCAB13	124989	broad.mit.edu	37	17	45419396	45419396	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:45419396G>A	ENST00000331493.2	+	6	712	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ITGB3_ENST00000435993.2_3'UTR|ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.E101K	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	101						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TAAAAGAACTGAGGTAAATAA	0.313																																						ENST00000331493.2																			0											c.(301-303)Gag>Aag		EF-hand calcium binding domain 13							33.0	34.0	34.0					17																	45419396		2200	4291	6491	SO:0001583	missense	124989							g.chr17:45419396G>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.301G>A	17.37:g.45419396G>A	ENSP00000332111:p.Glu101Lys					ITGB3_ENST00000560629.1_3'UTR|EFCAB13_ENST00000517484.1_Missense_Mutation_p.E101K|ITGB3_ENST00000435993.2_3'UTR	p.E101K	NM_152347.4	NP_689560.3					6	712	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.301G>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200836	0.79015	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;D	0.82803	-0.78;-1.65	3.21	3.21	0.36854	.	0.000000	0.44285	D	0.000461	D	0.87943	0.6305	M	0.61703	1.905	0.24709	N	0.993214	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.994;0.994	T	0.78526	-0.2170	10	0.87932	D	0	-13.8419	10.1915	0.43030	0.0:0.0:1.0:0.0	.	101;101;101	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	K	101	ENSP00000332111:E101K;ENSP00000430048:E101K	ENSP00000332111:E101K	E	+	1	0	C17orf57	42774395	1.000000	0.71417	0.965000	0.40720	0.141000	0.21300	3.415000	0.52700	2.089000	0.63090	0.591000	0.81541	GAG		0.313	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		10	44	0	0	0	1	0	10	44				
CDCP2	200008	broad.mit.edu	37	1	54618586	54618586	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:54618586C>G	ENST00000371330.1	-	1	857	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	RP11-446E24.4_ENST00000525949.1_Intron|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	4						extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCCCCCACTCTGCCAGCATC	0.637																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(10-12)Gag>Cag		CUB domain containing protein 2							48.0	53.0	51.0					1																	54618586		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54618586C>G		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.10G>C	1.37:g.54618586C>G	ENSP00000360381:p.Glu4Gln					RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	p.E4Q	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			1	857	-			4					Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.10G>C	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156809	0.21454	.	.	ENSG00000157211	ENST00000371330	T	0.29655	1.56	5.08	1.09	0.20402	.	0.825404	0.10964	N	0.614688	T	0.19208	0.0461	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22836	-1.0205	10	0.56958	D	0.05	-1.499	6.2654	0.20924	0.0:0.5567:0.2868:0.1565	.	4	Q5VXM1	CDCP2_HUMAN	Q	4	ENSP00000360381:E4Q	ENSP00000360381:E4Q	E	-	1	0	CDCP2	54391174	0.014000	0.17966	0.001000	0.08648	0.221000	0.24807	0.362000	0.20284	0.043000	0.15746	-0.165000	0.13383	GAG		0.637	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		17	74	0	0	0	1	0	17	74				
KRT85	3891	broad.mit.edu	37	12	52754767	52754767	+	Missense_Mutation	SNP	C	C	T	rs370269453	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:52754767C>T	ENST00000257901.3	-	9	1469	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	KRT85_ENST00000544265.1_Missense_Mutation_p.R253H	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	465	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R465H(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGTGATCTGGCGCCCTGGGGT	0.662													C|||	2	0.000399361	0.0	0.0	5008	,	,		17291	0.002		0.0	False		,,,				2504	0.0					ENST00000257901.3																			1	Substitution - Missense(1)	p.R465H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1393-1395)cGc>cAc		keratin 85		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	28.0	31.0	30.0		1394	3.2	1.0	12		30	0,8600		0,0,4300	no	missense	KRT85	NM_002283.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	465/508	52754767	1,13005	2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52754767C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1394G>A	12.37:g.52754767C>T	ENSP00000257901:p.Arg465His					KRT85_ENST00000544265.1_Missense_Mutation_p.R253H	p.R465H	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1469	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		465			Tail.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.1394G>A	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146606	0.57044	2.27E-4	0.0	ENSG00000135443	ENST00000257901;ENST00000544265	D;T	0.81821	-1.54;-1.42	5.11	3.16	0.36331	.	0.101248	0.41823	D	0.000814	T	0.69251	0.3090	L	0.55990	1.75	0.23640	N	0.99723	P	0.43857	0.819	B	0.34873	0.191	T	0.59590	-0.7426	10	0.15499	T	0.54	.	10.4787	0.44680	0.3489:0.6511:0.0:0.0	.	465	P78386	KRT85_HUMAN	H	465;253	ENSP00000257901:R465H;ENSP00000440240:R253H	ENSP00000257901:R465H	R	-	2	0	KRT85	51041034	0.985000	0.35326	0.997000	0.53966	0.957000	0.61999	0.237000	0.17985	1.337000	0.45525	0.609000	0.83330	CGC		0.662	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		10	30	0	0	0	1	0	10	30				
RPS6KC1	26750	broad.mit.edu	37	1	213415086	213415086	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:213415086C>T	ENST00000366960.3	+	11	2417	c.2267C>T	c.(2266-2268)tCt>tTt	p.S756F	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S544F|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S459F|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S744F|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	756					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)			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)		AGTGATCCCTCTGGGCCCAAA	0.438																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2266-2268)tCt>tTt		ribosomal protein S6 kinase, 52kDa, polypeptide 1							92.0	87.0	89.0					1																	213415086		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.chr1:213415086C>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.2267C>T	1.37:g.213415086C>T	ENSP00000355927:p.Ser756Phe					RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S744F|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S544F|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S459F	p.S756F	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	2417	+			756					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2267C>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.596434	0.00125	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.39592	1.44;1.47;1.47;1.07	5.42	-0.838	0.10762	.	1.450410	0.03623	N	0.236641	T	0.22126	0.0533	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.14008	-1.0488	10	0.09338	T	0.73	-40.1562	6.0725	0.19897	0.1168:0.3691:0.4334:0.0807	.	544;756;744	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	F	544;756;744;459	ENSP00000442306:S544F;ENSP00000355927:S756F;ENSP00000355926:S744F;ENSP00000439282:S459F	ENSP00000355926:S744F	S	+	2	0	RPS6KC1	211481709	0.000000	0.05858	0.002000	0.10522	0.079000	0.17450	-0.414000	0.07114	-0.041000	0.13558	0.650000	0.86243	TCT		0.438	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		22	72	0	0	0	1	0	22	72				
CD163L1	283316	broad.mit.edu	37	12	7548992	7548992	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7548992C>G	ENST00000313599.3	-	8	1806	c.1749G>C	c.(1747-1749)ctG>ctC	p.L583L	CD163L1_ENST00000416109.2_Silent_p.L593L|CD163L1_ENST00000396630.1_Silent_p.L583L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	583	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCACCAGCCTCAGGCCCCATG	0.517																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(1747-1749)ctG>ctC		CD163 molecule-like 1							39.0	31.0	33.0					12																	7548992		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7548992C>G	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1749G>C	12.37:g.7548992C>G						CD163L1_ENST00000396630.1_Silent_p.L583L|CD163L1_ENST00000416109.2_Silent_p.L593L	p.L583L			Q9NR16	C163B_HUMAN			8	1806	-			583			SRCR 6.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.1749G>C	CCDS8577.1																																																																																				0.517	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		4	17	0	0	0	1	0	4	17				
SCAMP3	10067	broad.mit.edu	37	1	155226122	155226122	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:155226122C>T	ENST00000302631.3	-	9	1093	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	SCAMP3_ENST00000472397.1_5'UTR|FAM189B_ENST00000472550.1_5'Flank|SCAMP3_ENST00000355379.3_Missense_Mutation_p.R303Q|FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000350210.2_5'Flank|FAM189B_ENST00000361361.2_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	329					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.R329Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCTGCGGTTCGCACCGCAGG	0.612																																						ENST00000355379.3																			1	Substitution - Missense(1)	p.R329Q(1)	endometrium(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19						c.(907-909)cGa>cAa		secretory carrier membrane protein 3							47.0	57.0	53.0					1																	155226122		2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155226122C>T	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.986G>A	1.37:g.155226122C>T	ENSP00000307275:p.Arg329Gln					SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Missense_Mutation_p.R329Q	p.R303Q	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	1186	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		329					A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.908G>A	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	C	5.493	0.275963	0.10403	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.16196	2.55;2.36	4.98	3.12	0.35913	.	0.067310	0.64402	D	0.000010	T	0.02267	0.0070	N	0.25825	0.765	0.53005	D	0.999966	P;P;P	0.42161	0.663;0.772;0.493	B;B;B	0.28385	0.041;0.089;0.022	T	0.22521	-1.0214	10	0.05833	T	0.94	-18.6387	9.6813	0.40072	0.0:0.8299:0.0:0.1701	.	329;303;329	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	Q	329;303	ENSP00000307275:R329Q;ENSP00000347540:R303Q	ENSP00000307275:R329Q	R	-	2	0	SCAMP3	153492746	1.000000	0.71417	0.997000	0.53966	0.180000	0.23129	2.515000	0.45512	0.826000	0.34661	-0.136000	0.14681	CGA		0.612	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		28	105	0	0	0	1	0	28	105				
BCL7C	9274	broad.mit.edu	37	16	30899219	30899219	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:30899219G>C	ENST00000215115.4	-	6	1636	c.621C>G	c.(619-621)ctC>ctG	p.L207L	MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000570025.1_RNA|AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000565573.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	207	Pro-rich.				apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			AGATGCGCTTGAGTGGGGGGG	0.617																																						ENST00000215115.4																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)	6						c.(619-621)ctC>ctG		B-cell CLL/lymphoma 7C							77.0	94.0	88.0					16																	30899219		2197	4300	6497	SO:0001819	synonymous_variant	9274				apoptosis			g.chr16:30899219G>C	AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.621C>G	16.37:g.30899219G>C						BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000570025.1_RNA|MIR4519_ENST00000565573.1_RNA	p.L207L	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	Colorectal(24;0.198)		6	1636	-			207			Pro-rich.		O43770|Q6PD89	Silent	SNP	ENST00000215115.4	37	c.621C>G	CCDS10693.1																																																																																				0.617	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255547.3	NM_004765		58	150	0	0	0	1	0	58	150				
GBP5	115362	broad.mit.edu	37	1	89729433	89729433	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:89729433G>A	ENST00000370459.3	-	8	1475	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.R450W|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	450						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATTCCTTTCCGAGGCTCCCGA	0.428																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(1348-1350)Cgg>Tgg		guanylate binding protein 5							147.0	139.0	142.0					1																	89729433		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89729433G>A	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1348C>T	1.37:g.89729433G>A	ENSP00000359488:p.Arg450Trp					RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.R450W	p.R450W	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	9	1884	-			450					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.1348C>T	CCDS722.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560109	0.27827	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.02369	4.32;4.32;4.32	4.94	-2.65	0.06095	Guanylate-binding protein, C-terminal (3);	0.428779	0.25753	N	0.028538	T	0.01592	0.0051	M	0.83774	2.66	0.22378	N	0.999154	P	0.40619	0.724	B	0.38655	0.278	T	0.30592	-0.9973	10	0.62326	D	0.03	-3.373	6.0078	0.19557	0.0:0.4019:0.2957:0.3024	.	450	Q96PP8	GBP5_HUMAN	W	450	ENSP00000340396:R450W;ENSP00000359488:R450W;ENSP00000403010:R450W	ENSP00000340396:R450W	R	-	1	2	GBP5	89502021	0.194000	0.23325	0.433000	0.26760	0.181000	0.23173	-0.172000	0.09868	-0.511000	0.06514	-1.446000	0.01064	CGG		0.428	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		31	140	0	0	0	1	0	31	140				
RP11-337C18.8	0	broad.mit.edu	37	1	146649755	146649755	+	RNA	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:146649755C>T	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000440377.2_RNA|RP11-337C18.9_ENST00000606152.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							CGGCCCGCCTCGCGGCTGCCT	0.721																																						ENST00000607149.1																			0																																																			0							g.chr1:146649755C>T																													1.37:g.146649755C>T														0	350	+									RNA	SNP	ENST00000607149.1	37																																																																																						0.721	RP11-337C18.8-004	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000471324.1			16	31	0	0	0	1	0	16	31				
ATP1A3	478	broad.mit.edu	37	19	42489172	42489172	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:42489172G>A	ENST00000302102.5	-	8	1041	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ATP1A3_ENST00000543770.1_Silent_p.F308F|ATP1A3_ENST00000602133.1_Silent_p.F267F|ATP1A3_ENST00000545399.1_Silent_p.F310F	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	297					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						GGGAGAGGATGAAGAAGGAGA	0.577																																						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.(928-930)ttC>ttT		ATPase, Na+/K+ transporting, alpha 3 polypeptide							139.0	105.0	116.0					19																	42489172		2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42489172G>A		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.891C>T	19.37:g.42489172G>A						ATP1A3_ENST00000543770.1_Silent_p.F308F|ATP1A3_ENST00000302102.5_Silent_p.F297F|ATP1A3_ENST00000602133.1_Silent_p.F267F	p.F310F	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			8	1083	-			297					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.930C>T	CCDS12594.1																																																																																				0.577	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		12	23	0	0	0	1	0	12	23				
DDOST	1650	broad.mit.edu	37	1	20982228	20982228	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:20982228C>T	ENST00000375048.3	-	4	553	c.448G>A	c.(448-450)Gac>Aac	p.D150N	DDOST_ENST00000415136.2_Missense_Mutation_p.D113N|DDOST_ENST00000602624.2_Missense_Mutation_p.D133N	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	150					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCTCCTCGTCAAACTCAATC	0.557																																						ENST00000375048.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13						c.(448-450)Gac>Aac		dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)							191.0	186.0	188.0					1																	20982228		2203	4300	6503	SO:0001583	missense	1650				innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr1:20982228C>T	D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"""oligosaccharyltransferase subunit 48"""	602202	"""dolichyl-diphosphooligosaccharide-protein glycosyltransferase"", ""dolichyl-diphosphooligosaccharide--protein glycosyltransferase"""			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.448G>A	1.37:g.20982228C>T	ENSP00000364188:p.Asp150Asn					DDOST_ENST00000602624.2_Missense_Mutation_p.D133N|DDOST_ENST00000415136.2_Missense_Mutation_p.D113N	p.D150N	NM_005216.4	NP_005207.2	P39656	OST48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	553	-		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	150					B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Missense_Mutation	SNP	ENST00000375048.3	37	c.448G>A	CCDS212.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573777	0.96553	.	.	ENSG00000244038	ENST00000375048;ENST00000415136	T;T	0.77098	-1.07;-1.07	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.90967	0.7160	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.985	D	0.92402	0.5930	10	0.52906	T	0.07	-23.7655	18.664	0.91481	0.0:1.0:0.0:0.0	.	113;132;150	E7EWT1;B4DLI2;P39656	.;.;OST48_HUMAN	N	150;113	ENSP00000364188:D150N;ENSP00000399457:D113N	ENSP00000364188:D150N	D	-	1	0	DDOST	20854815	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.689000	0.84165	2.469000	0.83416	0.585000	0.79938	GAC		0.557	DDOST-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007961.2	NM_005216		39	109	0	0	0	1	0	39	109				
IK	3550	broad.mit.edu	37	5	140031308	140031308	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:140031308C>T	ENST00000417647.2	+	3	232	c.93C>T	c.(91-93)ctC>ctT	p.L31L	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	31					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCAAAACTCACCAATGAAG	0.373																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(91-93)ctC>ctT		IK cytokine, down-regulator of HLA II							75.0	69.0	71.0					5																	140031308		1833	4087	5920	SO:0001819	synonymous_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140031308C>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.93C>T	5.37:g.140031308C>T						IK_ENST00000523672.1_3'UTR	p.L31L	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	232	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	31					Q6IPD8	Silent	SNP	ENST00000417647.2	37	c.93C>T	CCDS47280.1																																																																																				0.373	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		3	38	0	0	0	1	0	3	38				
MROH8	140699	broad.mit.edu	37	20	35743704	35743704	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35743704C>G	ENST00000400441.3	-	19	2406	c.2407G>C	c.(2407-2409)Gac>Cac	p.D803H	MROH8_ENST00000441008.2_Missense_Mutation_p.D789H|MROH8_ENST00000217333.8_Missense_Mutation_p.D632H			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	CGCAAGCTGTCTACAATGTAT	0.483																																						ENST00000400441.3																			0											c.(2407-2409)Gac>Cac		maestro heat-like repeat family member 8							282.0	269.0	273.0					20																	35743704		2033	4194	6227	SO:0001583	missense	140699							g.chr20:35743704C>G	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2407G>C	20.37:g.35743704C>G	ENSP00000383291:p.Asp803His					MROH8_ENST00000441008.2_Missense_Mutation_p.D789H|MROH8_ENST00000217333.8_Missense_Mutation_p.D632H	p.D803H							19	2406	-								Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.2407G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	9.256|9.256|9.256	1.041875|1.041875|1.041875	0.19748|0.19748|0.19748	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458|ENST00000343811	T;T;T|.|.	0.66638|.|.	-0.22;1.41;-0.16|.|.	5.27|5.27|5.27	1.75|1.75|1.75	0.24633|0.24633|0.24633	.|.|.	0.572165|.|.	0.18502|.|.	N|.|.	0.139315|.|.	T|T|.	0.23133|0.23133|.	0.0559|0.0559|.	N|N|N	0.24115|0.24115|0.24115	0.695|0.695|0.695	0.09310|0.09310|0.09310	N|N|N	1|1|1	D;P|.|.	0.67145|.|.	0.996;0.899|.|.	D;P|.|.	0.64237|.|.	0.923;0.789|.|.	T|T|.	0.21381|0.21381|.	-1.0247|-1.0247|.	10|5|.	0.48119|.|.	T|.|.	0.1|.|.	-0.4692|-0.4692|-0.4692	5.4924|5.4924|5.4924	0.16783|0.16783|0.16783	0.0:0.5977:0.0:0.4023|0.0:0.5977:0.0:0.4023|0.0:0.5977:0.0:0.4023	.|.|.	803;637|.|.	E7ETR9;Q9H579-2|.|.	.;.|.|.	H|T|Y	789;803;632|430|829	ENSP00000392144:D789H;ENSP00000383291:D803H;ENSP00000217333:D632H|.|.	ENSP00000217333:D632H|.|.	D|R|X	-|-|-	1|2|3	0|0|2	C20orf132|C20orf132|C20orf132	35177118|35177118|35177118	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.018000|0.018000|0.018000	0.16275|0.16275|0.16275	0.012000|0.012000|0.012000	0.07955|0.07955|0.07955	1.470000|1.470000|1.470000	0.35354|0.35354|0.35354	0.697000|0.697000|0.697000	0.31718|0.31718|0.31718	-0.136000|-0.136000|-0.136000	0.14681|0.14681|0.14681	GAC|AGA|TAG		0.483	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		98	261	0	0	0	1	0	98	261				
KIAA1217	56243	broad.mit.edu	37	10	24762980	24762980	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:24762980G>C	ENST00000376454.3	+	6	1700	c.1670G>C	c.(1669-1671)aGa>aCa	p.R557T	KIAA1217_ENST00000376452.3_Missense_Mutation_p.R557T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.R275T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R275T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R478T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R275T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R275T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R477T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R557T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	557					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCCAAAGACAGAGAGACCAGG	0.552																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(823-825)aGa>aCa		KIAA1217							59.0	56.0	57.0					10																	24762980		2189	4250	6439	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762980G>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1670G>C	10.37:g.24762980G>C	ENSP00000365637:p.Arg557Thr					KIAA1217_ENST00000307544.6_Missense_Mutation_p.R275T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R478T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R275T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R275T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R557T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R477T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R557T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R557T	p.R275T			Q5T5P2	SKT_HUMAN			2	1084	+			557					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.824G>C	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	7.437	0.640005	0.14386	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.49720	1.01;0.77;0.77;1.01;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.56	4.55	0.56014	.	0.417922	0.28371	N	0.015600	T	0.44746	0.1308	N	0.24115	0.695	0.30940	N	0.725969	B;B;B;B;B;B;D;D	0.76494	0.022;0.004;0.107;0.029;0.259;0.107;0.999;0.992	B;B;B;B;B;B;D;D	0.71656	0.027;0.008;0.041;0.027;0.041;0.041;0.962;0.974	T	0.44498	-0.9324	10	0.16896	T	0.51	.	4.7582	0.13095	0.1422:0.4512:0.4066:0.0	.	557;557;275;275;275;275;557;557	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	477;557;557;275;557;557;407;478;275;275;275;275;275	ENSP00000365645:R477T;ENSP00000365639:R557T;ENSP00000392625:R557T;ENSP00000365637:R557T;ENSP00000365635:R557T;ENSP00000404798:R407T;ENSP00000389680:R478T;ENSP00000302343:R275T;ENSP00000379722:R275T;ENSP00000365634:R275T;ENSP00000379723:R275T	ENSP00000302343:R275T	R	+	2	0	KIAA1217	24802986	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.284000	0.43478	2.624000	0.88883	0.591000	0.81541	AGA		0.552	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		6	44	0	0	0	1	0	6	44				
ZNF43	7594	broad.mit.edu	37	19	21991152	21991152	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:21991152C>G	ENST00000354959.4	-	4	1856	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	ZNF43_ENST00000594012.1_Missense_Mutation_p.E557Q|ZNF43_ENST00000595461.1_Missense_Mutation_p.E557Q|ZNF43_ENST00000598381.1_Missense_Mutation_p.E557Q	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	563					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)	p.E563Q(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TAGGGTTTCTCTCCAGTATGA	0.368																																						ENST00000594012.1																			1	Substitution - Missense(1)	p.E563Q(1)	breast(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1669-1671)Gag>Cag		zinc finger protein 43							47.0	50.0	49.0					19																	21991152		2186	4285	6471	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991152C>G	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1687G>C	19.37:g.21991152C>G	ENSP00000347045:p.Glu563Gln					ZNF43_ENST00000598381.1_Missense_Mutation_p.E557Q|ZNF43_ENST00000595461.1_Missense_Mutation_p.E557Q|ZNF43_ENST00000354959.4_Missense_Mutation_p.E563Q	p.E557Q	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2183	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	563					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1669G>C	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	c	12.08	1.830510	0.32329	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.25912	1.77	1.76	0.676	0.17958	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34454	0.0898	L	0.52905	1.665	0.26406	N	0.976332	D	0.57571	0.98	P	0.60415	0.874	T	0.13899	-1.0492	9	0.56958	D	0.05	.	3.6807	0.08309	0.243:0.5863:0.0:0.1707	.	563	P17038	ZNF43_HUMAN	Q	562;563	ENSP00000347045:E563Q	ENSP00000347045:E563Q	E	-	1	0	ZNF43	21782992	0.001000	0.12720	0.325000	0.25375	0.976000	0.68499	0.966000	0.29331	0.976000	0.38417	0.305000	0.20034	GAG		0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		38	93	0	0	0	1	0	38	93				
POLQ	10721	broad.mit.edu	37	3	121206364	121206364	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:121206364G>A	ENST00000264233.5	-	16	5542	c.5414C>T	c.(5413-5415)tCa>tTa	p.S1805L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1805					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAACTGAAGTGAAAAGCTTGT	0.378								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(5413-5415)tCa>tTa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							133.0	129.0	130.0					3																	121206364		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206364G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5414C>T	3.37:g.121206364G>A	ENSP00000264233:p.Ser1805Leu						p.S1805L	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5542	-			1805					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5414C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495844	0.44352	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.56776	0.44	6.04	3.28	0.37604	.	0.483219	0.22196	N	0.063307	T	0.56775	0.2008	L	0.59436	1.845	0.24601	N	0.993773	B;P	0.51537	0.028;0.946	B;P	0.51453	0.014;0.67	T	0.50355	-0.8838	10	0.49607	T	0.09	.	10.6865	0.45846	0.2072:0.0:0.7928:0.0	.	1805;977	O75417;O75417-2	DPOLQ_HUMAN;.	L	1428;1805;1941	ENSP00000264233:S1805L	ENSP00000264233:S1805L	S	-	2	0	POLQ	122689054	1.000000	0.71417	0.846000	0.33378	0.596000	0.36781	6.002000	0.70693	0.431000	0.26258	0.563000	0.77884	TCA		0.378	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		42	148	0	0	0	1	0	42	148				
TBX10	347853	broad.mit.edu	37	11	67402551	67402551	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:67402551C>G	ENST00000335385.3	-	2	278	c.191G>C	c.(190-192)aGa>aCa	p.R64T		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	64					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						AACTGTCACTCTGGACACACG	0.622																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(190-192)aGa>aCa		T-box 10							53.0	50.0	51.0					11																	67402551		2200	4294	6494	SO:0001583	missense	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67402551C>G	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.191G>C	11.37:g.67402551C>G	ENSP00000335191:p.Arg64Thr						p.R64T	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN			2	278	-			64					Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	c.191G>C	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	C	3.880	-0.026054	0.07589	.	.	ENSG00000167800	ENST00000335385	D	0.86164	-2.08	4.55	-1.16	0.09678	p53-like transcription factor, DNA-binding (1);	0.474446	0.19978	N	0.101824	T	0.67590	0.2909	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54741	-0.8248	10	0.27785	T	0.31	.	5.5155	0.16904	0.0:0.4125:0.1432:0.4443	.	64	O75333	TBX10_HUMAN	T	64	ENSP00000335191:R64T	ENSP00000335191:R64T	R	-	2	0	TBX10	67159127	0.000000	0.05858	0.008000	0.14137	0.175000	0.22909	0.178000	0.16820	-0.064000	0.13043	-0.379000	0.06801	AGA		0.622	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		15	41	0	0	0	1	0	15	41				
FCRL4	83417	broad.mit.edu	37	1	157557328	157557328	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:157557328C>T	ENST00000271532.1	-	5	720	c.585G>A	c.(583-585)ctG>ctA	p.L195L	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	195	Ig-like C2-type 3.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTGTAGCTTTCAGCTCTGGAT	0.478																																						ENST00000271532.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(583-585)ctG>ctA		Fc receptor-like 4							101.0	105.0	103.0					1																	157557328		2203	4300	6503	SO:0001819	synonymous_variant	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157557328C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.585G>A	1.37:g.157557328C>T						FCRL4_ENST00000448509.2_5'UTR	p.L195L	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			5	720	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	195			Ig-like C2-type 3.		Q96PJ3|Q96RE0	Silent	SNP	ENST00000271532.1	37	c.585G>A	CCDS1166.1																																																																																				0.478	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		39	92	0	0	0	1	0	39	92				
RHOA	387	broad.mit.edu	37	3	49397790	49397790	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49397790C>G	ENST00000418115.1	-	5	818	c.434G>C	c.(433-435)aGa>aCa	p.R145T	GPX1_ENST00000496791.1_5'Flank|RHOA_ENST00000422781.1_3'UTR|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000419783.1_5'Flank|RHOA_ENST00000454011.2_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	145					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGCCATATCTCTGCCTTCTTC	0.403																																						ENST00000418115.1																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(433-435)aGa>aCa		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						297.0	247.0	264.0					3																	49397790		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49397790C>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.434G>C	3.37:g.49397790C>G	ENSP00000400175:p.Arg145Thr					RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR	p.R145T	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	5	818	-			145					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.434G>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983475	0.74474	.	.	ENSG00000067560	ENST00000418115	T	0.77098	-1.07	6.03	5.15	0.70609	Small GTP-binding protein domain (1);	0.050604	0.85682	D	0.000000	T	0.74558	0.3732	L	0.33137	0.985	0.80722	D	1	P	0.44986	0.847	P	0.47981	0.563	T	0.73026	-0.4112	10	0.31617	T	0.26	.	15.5356	0.76001	0.1391:0.8609:0.0:0.0	.	145	P61586	RHOA_HUMAN	T	145	ENSP00000400175:R145T	ENSP00000400175:R145T	R	-	2	0	RHOA	49372794	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.792000	0.85828	1.546000	0.49388	0.655000	0.94253	AGA		0.403	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		38	104	0	0	0	1	0	38	104				
TLR7	51284	broad.mit.edu	37	X	12905259	12905259	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:12905259G>C	ENST00000380659.3	+	3	1771	c.1632G>C	c.(1630-1632)ctG>ctC	p.L544L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	544					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TAGCAGAGCTGAGATATTTGG	0.403																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(1630-1632)ctG>ctC		toll-like receptor 7	Imiquimod(DB00724)						185.0	196.0	192.0					X																	12905259		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905259G>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1632G>C	X.37:g.12905259G>C							p.L544L	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	1771	+			544					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.1632G>C	CCDS14151.1																																																																																				0.403	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		5	269	0	0	0	1	0	5	269				
FAT3	120114	broad.mit.edu	37	11	92532330	92532330	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:92532330G>C	ENST00000298047.6	+	9	6168	c.6151G>C	c.(6151-6153)Gag>Cag	p.E2051Q	FAT3_ENST00000409404.2_Missense_Mutation_p.E2051Q|FAT3_ENST00000525166.1_Missense_Mutation_p.E1901Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2051	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGTTATATGAGCTGGTGGT	0.468										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(6151-6153)Gag>Cag		FAT atypical cadherin 3							57.0	60.0	59.0					11																	92532330		1941	4147	6088	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532330G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6151G>C	11.37:g.92532330G>C	ENSP00000298047:p.Glu2051Gln	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.E1901Q|FAT3_ENST00000409404.2_Missense_Mutation_p.E2051Q	p.E2051Q			Q8TDW7	FAT3_HUMAN			9	6168	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2051			Cadherin 18.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6151G>C		.	.	.	.	.	.	.	.	.	.	G	19.98	3.927601	0.73327	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01767	4.65;4.65;4.65	5.9	5.9	0.94986	.	.	.	.	.	T	0.09686	0.0238	M	0.67625	2.065	0.80722	D	1	D	0.69078	0.997	D	0.65140	0.932	T	0.00970	-1.1496	9	0.46703	T	0.11	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	2051	Q8TDW7-3	.	Q	2051;2051;1901	ENSP00000298047:E2051Q;ENSP00000387040:E2051Q;ENSP00000432586:E1901Q	ENSP00000298047:E2051Q	E	+	1	0	FAT3	92171978	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.787000	0.99055	2.806000	0.96561	0.655000	0.94253	GAG		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	32	0	0	0	1	0	10	32				
XPOT	11260	broad.mit.edu	37	12	64813912	64813912	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:64813912G>A	ENST00000332707.5	+	7	1081	c.552G>A	c.(550-552)gtG>gtA	p.V184V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	184	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CAAATCTGGTGGAATCATGGT	0.383																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(550-552)gtG>gtA		exportin, tRNA							98.0	101.0	100.0					12																	64813912		2203	4300	6503	SO:0001819	synonymous_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64813912G>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.552G>A	12.37:g.64813912G>A							p.V184V	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	7	1081	+			184			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	c.552G>A	CCDS31852.1																																																																																				0.383	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		22	66	0	0	0	1	0	22	66				
ZNF750	79755	broad.mit.edu	37	17	80790247	80790247	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:80790247G>C	ENST00000269394.3	-	2	917	c.84C>G	c.(82-84)ttC>ttG	p.F28L	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	28					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGGACATTGGAAACATTTAT	0.408																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(82-84)ttC>ttG		zinc finger protein 750							98.0	105.0	103.0					17																	80790247		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80790247G>C	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.84C>G	17.37:g.80790247G>C	ENSP00000269394:p.Phe28Leu					TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron	p.F28L	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	917	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	28					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.84C>G	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274219	0.80580	.	.	ENSG00000141579	ENST00000269394	T	0.55930	0.49	5.83	4.78	0.61160	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.67468	0.2896	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68066	-0.5507	9	.	.	.	-35.4974	7.2597	0.26197	0.2452:0.0:0.7548:0.0	.	28	Q32MQ0	ZN750_HUMAN	L	28	ENSP00000269394:F28L	.	F	-	3	2	ZNF750	78383536	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.117000	0.64667	2.744000	0.94065	0.655000	0.94253	TTC		0.408	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		47	45	0	0	0	1	0	47	45				
CKMT2	1160	broad.mit.edu	37	5	80555067	80555067	+	Silent	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:80555067C>A	ENST00000424301.2	+	9	1246	c.1008C>A	c.(1006-1008)ctC>ctA	p.L336L	CKMT2_ENST00000254035.4_Silent_p.L336L|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Silent_p.L336L|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	336	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TCCCAAAGCTCAGCAAGGTAC	0.517																																						ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(1006-1008)ctC>ctA		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						116.0	94.0	101.0					5																	80555067		2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80555067C>A		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1008C>A	5.37:g.80555067C>A						CTC-281B15.1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Silent_p.L336L|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Silent_p.L336L|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA	p.L336L	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	9	1246	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	336			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.1008C>A	CCDS4053.1																																																																																				0.517	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		10	56	1	0	2.17888e-05	1	2.21927e-05	10	56				
LONP2	83752	broad.mit.edu	37	16	48333616	48333616	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:48333616G>A	ENST00000285737.4	+	10	1671	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	LONP2_ENST00000535754.1_Silent_p.L482L	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATAGGCACTTGATCCCCAAGC	0.463																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1576-1578)ttG>ttA		lon peptidase 2, peroxisomal							125.0	122.0	123.0					16																	48333616		2200	4300	6500	SO:0001819	synonymous_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48333616G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1578G>A	16.37:g.48333616G>A						LONP2_ENST00000535754.1_Silent_p.L482L	p.L526L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			10	1671	+			526						Silent	SNP	ENST00000285737.4	37	c.1578G>A	CCDS10734.1																																																																																				0.463	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490		24	96	0	0	0	1	0	24	96				
NAV2	89797	broad.mit.edu	37	11	20101658	20101658	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:20101658C>T	ENST00000396087.3	+	27	5495	c.5396C>T	c.(5395-5397)tCc>tTc	p.S1799F	NAV2_ENST00000311043.8_Missense_Mutation_p.S807F|NAV2_ENST00000396085.1_Missense_Mutation_p.S1743F|NAV2_ENST00000349880.4_Missense_Mutation_p.S1743F|NAV2_ENST00000527559.2_Missense_Mutation_p.S1728F|NAV2_ENST00000533917.1_Missense_Mutation_p.S807F|NAV2_ENST00000360655.4_Missense_Mutation_p.S1679F|NAV2_ENST00000540292.1_Missense_Mutation_p.S1730F	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1799					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						AGGCAGCACTCCTCAGACAGC	0.577																																						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.(5227-5229)tCc>tTc		neuron navigator 2							65.0	59.0	61.0					11																	20101658		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20101658C>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.5396C>T	11.37:g.20101658C>T	ENSP00000379396:p.Ser1799Phe					NAV2_ENST00000396087.3_Missense_Mutation_p.S1799F|NAV2_ENST00000360655.4_Missense_Mutation_p.S1679F|NAV2_ENST00000349880.4_Missense_Mutation_p.S1743F|NAV2_ENST00000540292.1_Missense_Mutation_p.S1730F|NAV2_ENST00000527559.2_Missense_Mutation_p.S1728F|NAV2_ENST00000533917.1_Missense_Mutation_p.S807F|NAV2_ENST00000311043.8_Missense_Mutation_p.S807F	p.S1743F	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			25	5589	+			1799					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5228C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254983	0.95336	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	5.39	5.39	0.77823	.	0.193178	0.37219	N	0.002194	D	0.96367	0.8815	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D;D	0.65815	0.991;0.995;0.992;0.994;0.995;0.994	P;P;P;D;D;D	0.67725	0.898;0.901;0.877;0.931;0.953;0.931	D	0.95878	0.8896	9	.	.	.	.	19.17	0.93574	0.0:1.0:0.0:0.0	.	1743;1799;807;792;1743;1679	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	F	1679;1743;1743;1799;1728;1730;807;792;807;792	ENSP00000353871:S1679F;ENSP00000379394:S1743F;ENSP00000309577:S1743F;ENSP00000379396:S1799F;ENSP00000435395:S1728F;ENSP00000443489:S1730F;ENSP00000437316:S807F;ENSP00000437136:S792F;ENSP00000312169:S807F	.	S	+	2	0	NAV2	20058234	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	2.521000	0.84997	0.557000	0.71058	TCC		0.577	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		9	30	0	0	0	1	0	9	30				
CENPB	1059	broad.mit.edu	37	20	3766555	3766555	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3766555G>A	ENST00000379751.4	-	1	782	c.576C>T	c.(574-576)ttC>ttT	p.F192F	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	192					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CGGTGGCGCTGAACACGTCCT	0.721																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(574-576)ttC>ttT		centromere protein B, 80kDa							30.0	32.0	31.0					20																	3766555		2012	3954	5966	SO:0001819	synonymous_variant	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766555G>A	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.576C>T	20.37:g.3766555G>A							p.F192F	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	782	-			192					Q96EI4	Silent	SNP	ENST00000379751.4	37	c.576C>T	CCDS13064.1																																																																																				0.721	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		16	66	0	0	0	1	0	16	66				
SNHG14	104472715	broad.mit.edu	37	15	25492527	25492527	+	RNA	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:25492527G>C	ENST00000453082.2	+	0	5792				SNORD115-41_ENST00000363608.1_RNA|SNORD115-42_ENST00000364273.1_RNA|SNORD115-43_ENST00000365503.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GTTCTGAAGAGAGGTGATGAC	0.507																																						ENST00000364273.1																			0																				404.0	396.0	398.0					15																	25492527		876	1991	2867			100033816							g.chr15:25492527G>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.25492527G>C								NR_003357.1						0	36	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.507	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			72	366	0	0	0	1	0	72	366				
SHROOM4	57477	broad.mit.edu	37	X	50377158	50377158	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:50377158G>C	ENST00000289292.7	-	4	2198	c.1915C>G	c.(1915-1917)Ctt>Gtt	p.L639V	SHROOM4_ENST00000460112.3_Missense_Mutation_p.L523V|SHROOM4_ENST00000376020.2_Missense_Mutation_p.L639V			Q9ULL8	SHRM4_HUMAN	shroom family member 4	639					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)					GAAGATAGAAGAGATGTGTTA	0.527																																						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.(1915-1917)Ctt>Gtt		shroom family member 4							57.0	59.0	58.0					X																	50377158		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:50377158G>C	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.1915C>G	X.37:g.50377158G>C	ENSP00000289292:p.Leu639Val					SHROOM4_ENST00000289292.7_Missense_Mutation_p.L639V|SHROOM4_ENST00000460112.3_Missense_Mutation_p.L523V	p.L639V	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1940	-	Ovarian(276;0.236)		639					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1915C>G	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	6.040	0.375739	0.11409	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.91407	-2.84;-2.84;-2.84	6.06	4.28	0.50868	.	0.906345	0.09348	N	0.814585	D	0.88418	0.6431	M	0.63428	1.95	0.09310	N	1	B	0.24721	0.11	B	0.16722	0.016	T	0.75096	-0.3438	10	0.30078	T	0.28	.	10.2331	0.43266	0.0761:0.1333:0.7906:0.0	.	639	Q9ULL8	SHRM4_HUMAN	V	639;639;523	ENSP00000289292:L639V;ENSP00000365188:L639V;ENSP00000421450:L523V	ENSP00000289292:L639V	L	-	1	0	SHROOM4	50393898	0.970000	0.33590	0.068000	0.19968	0.453000	0.32348	1.618000	0.36954	0.668000	0.31126	0.600000	0.82982	CTT		0.527	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		18	15	0	0	0	1	0	18	15				
TTN	7273	broad.mit.edu	37	2	179429972	179429972	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:179429972C>T	ENST00000591111.1	-	276	76188	c.75964G>A	c.(75964-75966)Gaa>Aaa	p.E25322K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24395K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18023K|TTN_ENST00000460472.2_Missense_Mutation_p.E17898K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E26963K|TTN_ENST00000342175.6_Missense_Mutation_p.E18090K|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25322	Ig-like 124.				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)			CTGAGATTTTCTGTTGCTGTG	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.(80887-80889)Gaa>Aaa		titin							102.0	98.0	99.0					2																	179429972		1883	4112	5995	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429972C>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.75964G>A	2.37:g.179429972C>T	ENSP00000465570:p.Glu25322Lys					TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17898K|TTN_ENST00000342992.6_Missense_Mutation_p.E24395K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18090K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25322K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18023K	p.E26963K	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	81111	-			25322			Fibronectin type-III 96.		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.80887G>A		.	.	.	.	.	.	.	.	.	.	C	16.02	3.003072	0.54254	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.67	5.67	0.87782	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62171	0.2406	L	0.31804	0.96	0.80722	D	1	P;P;P;P	0.47484	0.896;0.896;0.896;0.822	P;P;P;P	0.48368	0.575;0.575;0.575;0.478	T	0.66031	-0.6024	9	0.87932	D	0	.	19.7692	0.96356	0.0:1.0:0.0:0.0	.	17898;18023;18090;25322	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	24395;17898;18090;18023;17896	ENSP00000343764:E24395K;ENSP00000434586:E17898K;ENSP00000340554:E18090K;ENSP00000352154:E18023K	ENSP00000340554:E18090K	E	-	1	0	TTN	179138218	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	6.093000	0.71422	2.692000	0.91855	0.484000	0.47621	GAA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	108	0	0	0	1	0	21	108				
DUSP14	11072	broad.mit.edu	37	17	35872423	35872423	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:35872423C>G	ENST00000487847.1	+	2	1027	c.49C>G	c.(49-51)Cgg>Ggg	p.R17G	DUSP14_ENST00000394386.1_Missense_Mutation_p.R17G|DUSP14_ENST00000394389.4_Missense_Mutation_p.R17G			O95147	DUS14_HUMAN	dual specificity phosphatase 14	17					peptidyl-tyrosine dephosphorylation (GO:0035335)		MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|poly(A) RNA binding (GO:0044822)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				CATGGCCCCTCGGATGATTTC	0.567																																						ENST00000487847.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(49-51)Cgg>Ggg		dual specificity phosphatase 14							52.0	47.0	48.0					17																	35872423		2203	4300	6503	SO:0001583	missense	11072						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr17:35872423C>G	AF038844	CCDS11320.1	17q12	2014-05-06			ENSG00000161326	ENSG00000276023		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	17007	protein-coding gene	gene with protein product	"""MKP-1 like protein tyrosine phosphatase"""	606618				11123293	Standard	XM_005256977		Approved	MKP-L, MKP6	uc002hnx.2	O95147	OTTHUMG00000188472	ENST00000487847.1:c.49C>G	17.37:g.35872423C>G	ENSP00000466299:p.Arg17Gly					DUSP14_ENST00000394386.1_Missense_Mutation_p.R17G|DUSP14_ENST00000394389.4_Missense_Mutation_p.R17G	p.R17G			O95147	DUS14_HUMAN			2	1027	+		Breast(25;0.00637)|Ovarian(249;0.15)	17						Missense_Mutation	SNP	ENST00000487847.1	37	c.49C>G	CCDS11320.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256901	0.39896	.	.	ENSG00000161326	ENST00000394389;ENST00000394386	T;T	0.61274	0.12;0.12	5.69	5.69	0.88448	.	0.183820	0.38837	N	0.001549	T	0.49440	0.1557	N	0.08118	0	0.42273	D	0.992067	D	0.53745	0.962	P	0.53450	0.726	T	0.46148	-0.9212	10	0.15952	T	0.53	.	17.5912	0.87997	0.0:1.0:0.0:0.0	.	17	O95147	DUS14_HUMAN	G	17	ENSP00000377912:R17G;ENSP00000377910:R17G	ENSP00000377910:R17G	R	+	1	2	DUSP14	32946536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.555000	0.45854	2.706000	0.92434	0.555000	0.69702	CGG		0.567	DUSP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256680.3	NM_007026		14	44	0	0	0	1	0	14	44				
CMYA5	202333	broad.mit.edu	37	5	79027795	79027795	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:79027795C>A	ENST00000446378.2	+	2	3238	c.3207C>A	c.(3205-3207)ttC>ttA	p.F1069L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1069					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)		CTGAAACTTTCCCTTTGATGT	0.438																																						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.(3205-3207)ttC>ttA		cardiomyopathy associated 5							52.0	48.0	49.0					5																	79027795		1888	4120	6008	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79027795C>A	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.3207C>A	5.37:g.79027795C>A	ENSP00000394770:p.Phe1069Leu						p.F1069L	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	3238	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	1069					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.3207C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	0.524	-0.860666	0.02610	.	.	ENSG00000164309	ENST00000446378	T	0.37752	1.18	4.36	-3.14	0.05250	.	1.657430	0.03268	N	0.184331	T	0.20740	0.0499	L	0.29908	0.895	0.09310	N	1	P	0.35527	0.507	B	0.28232	0.087	T	0.09640	-1.0665	10	0.44086	T	0.13	.	2.3288	0.04230	0.1536:0.2442:0.1114:0.4909	.	1069	Q8N3K9	CMYA5_HUMAN	L	1069	ENSP00000394770:F1069L	ENSP00000394770:F1069L	F	+	3	2	CMYA5	79063551	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.694000	0.01915	-0.674000	0.05253	-0.734000	0.03567	TTC		0.438	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		14	42	1	0	0.00400662	1	0.00404807	14	42				
DNASE2	1777	broad.mit.edu	37	19	12984814	12984814	+	IGR	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12984814G>C	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Silent_p.A1281A	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGAAGGGCGCGCTGCGCAAAC	0.677																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(3841-3843)gcG>gcC		microtubule associated serine/threonine kinase 1							16.0	17.0	17.0					19																	12984814		2202	4300	6502	SO:0001628	intergenic_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12984814G>C	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12984814G>C							p.A1281A	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			26	3882	+			1281					B2RD06|B7Z4K6|O43910	Silent	SNP	ENST00000222219.3	37	c.3843G>C	CCDS12284.1																																																																																				0.677	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			6	7	0	0	0	1	0	6	7				
FBXL20	84961	broad.mit.edu	37	17	37431248	37431248	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:37431248G>A	ENST00000264658.6	-	10	1062	c.802C>T	c.(802-804)Cta>Tta	p.L268L	FBXL20_ENST00000583610.1_Silent_p.L268L|FBXL20_ENST00000577399.1_Silent_p.L270L|FBXL20_ENST00000394294.3_Silent_p.L236L	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	268					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TTCTGACCTAGAGCATTCAGG	0.423																																						ENST00000264658.6																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(802-804)Cta>Tta		F-box and leucine-rich repeat protein 20							131.0	120.0	124.0					17																	37431248		2203	4300	6503	SO:0001819	synonymous_variant	84961					cytoplasm		g.chr17:37431248G>A	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.802C>T	17.37:g.37431248G>A						FBXL20_ENST00000583610.1_Silent_p.L268L|FBXL20_ENST00000577399.1_Silent_p.L270L|FBXL20_ENST00000394294.3_Silent_p.L236L	p.L268L	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		10	1062	-			268					A8K729|Q38J52	Silent	SNP	ENST00000264658.6	37	c.802C>T	CCDS32640.1																																																																																				0.423	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		24	88	0	0	0	1	0	24	88				
GPR108	56927	broad.mit.edu	37	19	6735686	6735686	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:6735686C>A	ENST00000264080.7	-	4	347	c.321G>T	c.(319-321)caG>caT	p.Q107H	TRIP10_ENST00000600428.1_5'Flank|GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	107						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TACTGTTTTTCTGGAGAGGGC	0.592											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(319-321)caG>caT		G protein-coupled receptor 108							80.0	88.0	86.0					19																	6735686		1896	4103	5999	SO:0001583	missense	56927					integral to membrane		g.chr19:6735686C>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.321G>T	19.37:g.6735686C>A	ENSP00000264080:p.Gln107His		OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	GPR108_ENST00000430424.4_5'UTR	p.Q107H	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			4	347	-			107					B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.321G>T	CCDS42479.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.49|12.49	1.954916|1.954916	0.34471|0.34471	.|.	.|.	ENSG00000125734|ENSG00000125734	ENST00000549846|ENST00000264080	.|T	.|0.24723	.|1.84	4.69|4.69	-0.819|-0.819	0.10829|0.10829	.|.	.|1.929490	.|0.03099	.|U	.|0.160787	.|T	.|0.20251	.|0.0487	L|L	0.42245|0.42245	1.32|1.32	0.18873|0.18873	N|N	0.999983|0.999983	.|B	.|0.12630	.|0.006	.|B	.|0.14578	.|0.011	.|T	.|0.32455	.|-0.9906	.|10	.|0.62326	.|D	.|0.03	-17.7661|-17.7661	0.3531|0.3531	0.00352|0.00352	0.2029:0.3201:0.1999:0.277|0.2029:0.3201:0.1999:0.277	.|.	.|107	.|Q9NPR9	.|GP108_HUMAN	X|H	90|107	.|ENSP00000264080:Q107H	.|ENSP00000264080:Q107H	E|Q	-|-	1|3	0|2	GPR108|GPR108	6686686|6686686	0.000000|0.000000	0.05858|0.05858	0.750000|0.750000	0.31169|0.31169	0.987000|0.987000	0.75469|0.75469	-1.350000|-1.350000	0.02624|0.02624	0.040000|0.040000	0.15660|0.15660	0.484000|0.484000	0.47621|0.47621	GAA|CAG		0.592	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			15	86	1	0	7.93312e-07	1	8.17493e-07	15	86				
ADORA2A	135	broad.mit.edu	37	22	24837220	24837220	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:24837220C>T	ENST00000337539.7	+	3	1461	c.1002C>T	c.(1000-1002)gtC>gtT	p.V334V	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	334					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GAGAGCAGGTCAGCCTCCGTC	0.647																																						ENST00000337539.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21						c.(1000-1002)gtC>gtT		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						36.0	29.0	31.0					22																	24837220		2202	4300	6502	SO:0001819	synonymous_variant	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24837220C>T	X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"""GPCR / Class A : Adenosine receptors"""	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.1002C>T	22.37:g.24837220C>T						ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA	p.V334V	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN			3	1461	+	Colorectal(2;0.196)		334					B2R7E0	Silent	SNP	ENST00000337539.7	37	c.1002C>T	CCDS13826.1																																																																																				0.647	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		4	19	0	0	0	1	0	4	19				
LMNB2	84823	broad.mit.edu	37	19	2438403	2438403	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:2438403G>A	ENST00000582871.1	-	3	554	c.468C>T	c.(466-468)gaC>gaT	p.D156D	LMNB2_ENST00000325327.3_Silent_p.D176D	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	156	Coil 1B.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGCCACGTCACTCTCCA	0.667																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(526-528)gaC>gaT		lamin B2							32.0	30.0	31.0					19																	2438403		2202	4297	6499	SO:0001819	synonymous_variant	84823					nuclear inner membrane	structural molecule activity	g.chr19:2438403G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.468C>T	19.37:g.2438403G>A						LMNB2_ENST00000582871.1_Silent_p.D156D	p.D176D			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	590	-		Hepatocellular(1079;0.137)	156			Coil 1B.|Rod.		O75292|Q14734|Q96DF6	Silent	SNP	ENST00000582871.1	37	c.528C>T																																																																																					0.667	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		5	34	0	0	0	1	0	5	34				
TACC2	10579	broad.mit.edu	37	10	123846480	123846480	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:123846480C>T	ENST00000369005.1	+	4	4805	c.4465C>T	c.(4465-4467)Ctg>Ttg	p.L1489L	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.L1489L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.L1489L|TACC2_ENST00000515273.1_Silent_p.L1489L|TACC2_ENST00000334433.3_Silent_p.L1489L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1489					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCATCTGGCTCTGCAAGATCC	0.597																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(4465-4467)Ctg>Ttg		transforming, acidic coiled-coil containing protein 2							47.0	44.0	45.0					10																	123846480		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846480C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4465C>T	10.37:g.123846480C>T						TACC2_ENST00000453444.2_Silent_p.L1489L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.L1489L|TACC2_ENST00000515603.1_Silent_p.L1489L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.L1489L	p.L1489L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	4805	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1489					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.4465C>T	CCDS7626.1																																																																																				0.597	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			12	41	0	0	0	1	0	12	41				
OPRL1	4987	broad.mit.edu	37	20	62729471	62729471	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:62729471C>T	ENST00000349451.3	+	5	962	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	OPRL1_ENST00000355631.4_Missense_Mutation_p.P184S|OPRL1_ENST00000336866.2_Missense_Mutation_p.P184S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	184					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGTCGGTGTTCCCGTTGCCAT	0.662																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(550-552)Ccc>Tcc		opiate receptor-like 1							80.0	70.0	73.0					20																	62729471		2203	4296	6499	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729471C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.550C>T	20.37:g.62729471C>T	ENSP00000336764:p.Pro184Ser					OPRL1_ENST00000355631.4_Missense_Mutation_p.P184S|OPRL1_ENST00000336866.2_Missense_Mutation_p.P184S	p.P184S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			5	962	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		184					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.550C>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211721	0.58452	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.50001	0.76;0.76;0.76	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.79329	-0.1848	10	0.46703	T	0.11	.	18.3439	0.90314	0.0:1.0:0.0:0.0	.	179;184	P41146-2;P41146	.;OPRX_HUMAN	S	184	ENSP00000336843:P184S;ENSP00000347848:P184S;ENSP00000336764:P184S	ENSP00000336843:P184S	P	+	1	0	OPRL1	62199915	1.000000	0.71417	0.075000	0.20258	0.101000	0.19017	5.900000	0.69853	2.347000	0.79759	0.449000	0.29647	CCC		0.662	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		15	58	0	0	0	1	0	15	58				
LRP1B	53353	broad.mit.edu	37	2	141641478	141641478	+	Silent	SNP	G	G	A	rs377677860		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:141641478G>A	ENST00000389484.3	-	25	5048	c.4077C>T	c.(4075-4077)atC>atT	p.I1359I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1359					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)		TGGCCACTTCGATTTGGTCCA	0.493										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.(4075-4077)atC>atT		low density lipoprotein receptor-related protein 1B							187.0	178.0	181.0					2																	141641478		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641478G>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.4077C>T	2.37:g.141641478G>A		TSP Lung(27;0.18)					p.I1359I	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)	25	5048	-		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)	1359					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.4077C>T	CCDS2182.1																																																																																				0.493	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		37	126	0	0	0	1	0	37	126				
DNAH3	55567	broad.mit.edu	37	16	21078642	21078642	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:21078642C>T	ENST00000261383.3	-	24	3479	c.3480G>A	c.(3478-3480)ctG>ctA	p.L1160L	DNAH3_ENST00000415178.1_Silent_p.L1160L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1160	Stem. {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)|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)		AGTAATCATTCAGCCCTTTCT	0.443																																						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.(3478-3480)ctG>ctA		dynein, axonemal, heavy chain 3							87.0	87.0	87.0					16																	21078642		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.chr16:21078642C>T	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.3480G>A	16.37:g.21078642C>T						DNAH3_ENST00000415178.1_Silent_p.L1160L	p.L1160L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	24	3479	-			1160			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3480G>A	CCDS10594.1																																																																																				0.443	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		21	90	0	0	0	1	0	21	90				
DLG1	1739	broad.mit.edu	37	3	196771544	196771544	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:196771544C>T	ENST00000419354.1	-	26	2951	c.2665G>A	c.(2665-2667)Gaa>Aaa	p.E889K	DLG1_ENST00000452595.1_Missense_Mutation_p.E773K|DLG1_ENST00000314062.3_Missense_Mutation_p.E838K|DLG1_ENST00000450955.1_Missense_Mutation_p.E878K|DLG1_ENST00000392382.2_Missense_Mutation_p.E856K|DLG1_ENST00000448528.2_Missense_Mutation_p.E889K|DLG1_ENST00000422288.1_Missense_Mutation_p.E838K|DLG1_ENST00000357674.4_Missense_Mutation_p.E878K|DLG1_ENST00000346964.2_Missense_Mutation_p.E911K|DLG1_ENST00000443183.1_Missense_Mutation_p.E785K			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	889	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GATTGTTCTTCTATGATCTGT	0.363																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(2731-2733)Gaa>Aaa		discs, large homolog 1 (Drosophila)							165.0	156.0	159.0					3																	196771544		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196771544C>T	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2665G>A	3.37:g.196771544C>T	ENSP00000407531:p.Glu889Lys					DLG1_ENST00000452595.1_Missense_Mutation_p.E773K|DLG1_ENST00000450955.1_Missense_Mutation_p.E878K|DLG1_ENST00000448528.2_Missense_Mutation_p.E889K|DLG1_ENST00000443183.1_Missense_Mutation_p.E785K|DLG1_ENST00000357674.4_Missense_Mutation_p.E878K|DLG1_ENST00000419354.1_Missense_Mutation_p.E889K|DLG1_ENST00000422288.1_Missense_Mutation_p.E838K|DLG1_ENST00000392382.2_Missense_Mutation_p.E856K|DLG1_ENST00000314062.3_Missense_Mutation_p.E838K	p.E911K	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	26	2920	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	889					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.2731G>A	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.114072	0.56398	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.94	4.94	0.65067	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	N	0.20766	0.605	0.80722	D	1	B;B;D;P;D	0.89917	0.196;0.199;1.0;0.531;1.0	B;B;D;B;D	0.91635	0.172;0.188;0.999;0.444;0.998	T	0.59123	-0.7513	10	0.48119	T	0.1	.	17.17	0.86827	0.0:1.0:0.0:0.0	.	878;773;785;889;911	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	K	911;902;878;876;838;889;773;838;889;785;856;878	ENSP00000345731:E911K;ENSP00000350303:E878K;ENSP00000321087:E838K;ENSP00000407531:E889K;ENSP00000398939:E773K;ENSP00000413238:E838K;ENSP00000391732:E889K;ENSP00000396658:E785K;ENSP00000376187:E856K;ENSP00000411278:E878K	ENSP00000321087:E838K	E	-	1	0	DLG1	198255941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.295000	0.77249	0.655000	0.94253	GAA		0.363	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		32	130	0	0	0	1	0	32	130				
TRPC5	7224	broad.mit.edu	37	X	111019937	111019937	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:111019937G>C	ENST00000262839.2	-	11	3444	c.2526C>G	c.(2524-2526)ctC>ctG	p.L842L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	842					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGTTTCTTGAGAGAAGGAC	0.463																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2524-2526)ctC>ctG		transient receptor potential cation channel, subfamily C, member 5							140.0	120.0	127.0					X																	111019937		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111019937G>C	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2526C>G	X.37:g.111019937G>C							p.L842L	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			11	3444	-			842					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.2526C>G	CCDS14561.1																																																																																				0.463	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		52	68	0	0	0	1	0	52	68				
ZBTB22	9278	broad.mit.edu	37	6	33283442	33283442	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:33283442G>T	ENST00000431845.2	-	2	1403	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.P418T	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					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						ATGTCCAAGGGAAGGAGCGGT	0.612																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1252-1254)Ccc>Acc		zinc finger and BTB domain containing 22							123.0	133.0	130.0					6																	33283442		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283442G>T	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	ENST00000431845.2:c.1252C>A	6.37:g.33283442G>T	ENSP00000407545:p.Pro418Thr					ZBTB22_ENST00000418724.1_Missense_Mutation_p.P418T	p.P418T	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1403	-			418					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1252C>A	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099562	0.37048	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.08634	3.07;3.07	4.29	4.29	0.51040	.	0.549202	0.13815	N	0.360848	T	0.12050	0.0293	L	0.38175	1.15	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.10660	-1.0620	10	0.37606	T	0.19	.	14.2915	0.66281	0.0:0.0:1.0:0.0	.	418	O15209	ZBT22_HUMAN	T	418	ENSP00000404403:P418T;ENSP00000407545:P418T	ENSP00000404403:P418T	P	-	1	0	ZBTB22	33391420	1.000000	0.71417	0.320000	0.25306	0.490000	0.33462	5.666000	0.68059	2.215000	0.71742	0.448000	0.29417	CCC		0.612	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			45	122	1	0	2.13384e-23	1	2.29016e-23	45	122				
TBX10	347853	broad.mit.edu	37	11	67402487	67402487	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:67402487C>A	ENST00000335385.3	-	2	342	c.255G>T	c.(253-255)atG>atT	p.M85I		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	85					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						TGGTGACGATCATCTCAGTGC	0.647																																						ENST00000335385.3																			0				endometrium(2)|lung(4)|ovary(1)	7						c.(253-255)atG>atT		T-box 10							48.0	43.0	45.0					11																	67402487		2200	4294	6494	SO:0001583	missense	347853				anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:67402487C>A	AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"""T-boxes"""	11593	protein-coding gene	gene with protein product		604648	"""T-box 7"""	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.255G>T	11.37:g.67402487C>A	ENSP00000335191:p.Met85Ile						p.M85I	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN			2	342	-			85					Q14D64|Q86XS3	Missense_Mutation	SNP	ENST00000335385.3	37	c.255G>T	CCDS31621.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344098	0.61073	.	.	ENSG00000167800	ENST00000335385	D	0.91464	-2.85	4.55	3.64	0.41730	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	H	0.97186	3.955	0.53688	D	0.999977	D	0.89917	1.0	D	0.91635	0.999	D	0.96779	0.9574	10	0.87932	D	0	.	11.4852	0.50350	0.0:0.9105:0.0:0.0895	.	85	O75333	TBX10_HUMAN	I	85	ENSP00000335191:M85I	ENSP00000335191:M85I	M	-	3	0	TBX10	67159063	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	7.691000	0.84191	1.145000	0.42336	0.462000	0.41574	ATG		0.647	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394034.1	NM_005995		10	25	1	0	7.48243e-07	1	7.71955e-07	10	25				
LMOD1	25802	broad.mit.edu	37	1	201868902	201868902	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:201868902C>T	ENST00000367288.4	-	2	1485	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	413					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCGTGTTGTTCTGGAGGAGGG	0.572																																						ENST00000367288.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1237-1239)caG>caA		leiomodin 1 (smooth muscle)							119.0	123.0	121.0					1																	201868902		2181	4287	6468	SO:0001819	synonymous_variant	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868902C>T	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1239G>A	1.37:g.201868902C>T						RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	p.Q413Q	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN			2	1485	-			413					B1APV6|C4AMB1|Q68EN2	Silent	SNP	ENST00000367288.4	37	c.1239G>A	CCDS53457.1																																																																																				0.572	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			5	29	0	0	0	1	0	5	29				
FAM161B	145483	broad.mit.edu	37	14	74404816	74404816	+	Splice_Site	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:74404816C>G	ENST00000534936.1	-	6	1506		c.e6-1		RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000286544.3_Splice_Site			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						AAGTGCACTTCTAAAGGAAGG	0.428																																						ENST00000286544.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						c.e6-1		family with sequence similarity 161, member B							114.0	112.0	113.0					14																	74404816		2203	4300	6503	SO:0001630	splice_region_variant	145483							g.chr14:74404816C>G	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1401-1G>C	14.37:g.74404816C>G						RP5-1021I20.5_ENST00000555916.1_RNA|FAM161B_ENST00000534936.1_Splice_Site		NM_152445.2	NP_689658.2					6	1788	-								B7Z882|J3KNA2	Splice_Site	SNP	ENST00000534936.1	37			.	.	.	.	.	.	.	.	.	.	C	9.339	1.062408	0.19987	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	.	.	.	5.46	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6636	0.68891	0.0:0.9308:0.0:0.0692	.	.	.	.	.	-1	.	.	.	-	.	.	FAM161B	73474569	1.000000	0.71417	0.997000	0.53966	0.301000	0.27625	3.984000	0.56923	1.553000	0.49476	-0.126000	0.14955	.		0.428	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445	Intron	46	91	0	0	0	1	0	46	91				
SBDS	51119	broad.mit.edu	37	7	66456190	66456190	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:66456190C>T	ENST00000246868.2	-	4	741	c.558G>A	c.(556-558)ctG>ctA	p.L186L		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	186					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GCTTTTCTTTCAGCTTCTTGC	0.388			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													ENST00000246868.2			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		"""AML, MDS"""			0				cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(556-558)ctG>ctA		Shwachman-Bodian-Diamond syndrome							138.0	117.0	124.0					7																	66456190		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66456190C>T	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.558G>A	7.37:g.66456190C>T							p.L186L	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN			4	741	-			186					A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.558G>A	CCDS5537.1																																																																																				0.388	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		35	86	0	0	0	1	0	35	86				
ATP8A1	10396	broad.mit.edu	37	4	42457368	42457368	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:42457368C>A	ENST00000381668.5	-	29	2994	c.2763G>T	c.(2761-2763)ttG>ttT	p.L921F	ATP8A1_ENST00000264449.10_Missense_Mutation_p.L906F	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	921					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CAGGGTACTTCAACATGTTCT	0.433																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2761-2763)ttG>ttT		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						178.0	157.0	164.0					4																	42457368		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42457368C>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2763G>T	4.37:g.42457368C>A	ENSP00000371084:p.Leu921Phe					ATP8A1_ENST00000264449.10_Missense_Mutation_p.L906F	p.L921F	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			29	2994	-			921					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.2763G>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565523	0.45694	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.78246	-1.16;-1.16	5.09	2.38	0.29361	.	0.000000	0.51477	D	0.000087	D	0.85588	0.5731	M	0.90870	3.155	0.80722	D	1	P;P;P	0.46277	0.875;0.867;0.867	P;P;P	0.57468	0.821;0.703;0.594	T	0.81360	-0.0968	10	0.26408	T	0.33	.	7.1896	0.25818	0.0:0.6573:0.1302:0.2125	.	906;921;913	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	F	921;906	ENSP00000371084:L921F;ENSP00000264449:L906F	ENSP00000264449:L906F	L	-	3	2	ATP8A1	42152125	0.996000	0.38824	0.999000	0.59377	0.899000	0.52679	0.465000	0.22004	0.227000	0.20999	0.557000	0.71058	TTG		0.433	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		30	87	1	0	2.12542e-12	1	2.24548e-12	30	87				
GOLGA6A	342096	broad.mit.edu	37	15	74364606	74364606	+	Missense_Mutation	SNP	G	G	A	rs548122845		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:74364606G>A	ENST00000290438.3	-	14	1586	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	516						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGCGTGGGCCGAGGCGCCTCC	0.637													g|||	1	0.000199681	0.0	0.0	5008	,	,		33786	0.0		0.0	False		,,,				2504	0.001					ENST00000290438.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						c.(1546-1548)Cgg>Tgg		golgin A6 family, member A							33.0	60.0	50.0					15																	74364606		1411	2579	3990	SO:0001583	missense	342096							g.chr15:74364606G>A	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1546C>T	15.37:g.74364606G>A	ENSP00000290438:p.Arg516Trp						p.R516W	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN			14	1586	-			516					A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.1546C>T	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	G	5.879	0.346289	0.11126	.	.	ENSG00000159289	ENST00000290438	T	0.25414	1.8	1.55	0.532	0.17114	.	.	.	.	.	T	0.17619	0.0423	L	0.38175	1.15	0.09310	N	1	B	0.25563	0.129	B	0.17433	0.018	T	0.22661	-1.0210	9	0.87932	D	0	.	5.7612	0.18201	0.0:0.0:0.4351:0.5649	.	516	Q9NYA3	GOG6A_HUMAN	W	516	ENSP00000290438:R516W	ENSP00000290438:R516W	R	-	1	2	GOLGA6A	72151659	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	0.761000	0.26489	0.191000	0.20236	0.162000	0.16502	CGG		0.637	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		5	101	0	0	0	1	0	5	101				
CDC27	996	broad.mit.edu	37	17	45198318	45198318	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:45198318C>T	ENST00000066544.3	-	19	2551	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	CDC27_ENST00000527547.1_Missense_Mutation_p.E819K|AC002558.1_ENST00000408089.1_RNA|CDC27_ENST00000531206.1_Missense_Mutation_p.E826K|CDC27_ENST00000446365.2_Missense_Mutation_p.E759K	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	820					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCATCACTTTCAGCTGCATGA	0.403																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(2458-2460)Gaa>Aaa		cell division cycle 27							131.0	97.0	109.0					17																	45198318		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45198318C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2458G>A	17.37:g.45198318C>T	ENSP00000066544:p.Glu820Lys					CDC27_ENST00000527547.1_Missense_Mutation_p.E819K|CDC27_ENST00000531206.1_Missense_Mutation_p.E826K|CDC27_ENST00000446365.2_Missense_Mutation_p.E759K	p.E820K	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			19	2551	-			820					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.2458G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640857	0.87859	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.70749	-0.49;-0.51;-0.24;-0.5	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	N	0.24115	0.695	0.80722	D	1	D;D;D;P	0.64830	0.993;0.974;0.994;0.956	D;D;P;P	0.70227	0.968;0.953;0.84;0.899	T	0.76868	-0.2800	10	0.52906	T	0.07	-14.8429	17.4539	0.87602	0.0:1.0:0.0:0.0	.	759;819;826;820	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	K	820;826;759;819	ENSP00000066544:E820K;ENSP00000434614:E826K;ENSP00000392802:E759K;ENSP00000437339:E819K	ENSP00000066544:E820K	E	-	1	0	CDC27	42553317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.466000	0.80914	2.720000	0.93068	0.655000	0.94253	GAA		0.403	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			14	32	0	0	0	1	0	14	32				
XPNPEP2	7512	broad.mit.edu	37	X	128885796	128885796	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:128885796C>T	ENST00000371106.3	+	9	1007	c.815C>T	c.(814-816)tCt>tTt	p.S272F		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	272						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ACAGACTCTTCTATTAGGTAT	0.483																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(814-816)tCt>tTt		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							208.0	203.0	204.0					X																	128885796		2203	4299	6502	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128885796C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.815C>T	X.37:g.128885796C>T	ENSP00000360147:p.Ser272Phe						p.S272F	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			9	1007	+			272					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.815C>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	7.219	0.597063	0.13875	.	.	ENSG00000122121	ENST00000371106	T	0.75367	-0.93	5.43	4.57	0.56435	.	0.334904	0.35525	N	0.003153	T	0.72162	0.3426	M	0.72118	2.19	0.09310	N	0.999999	B	0.09022	0.002	B	0.11329	0.006	T	0.65282	-0.6206	10	0.59425	D	0.04	-10.669	11.0658	0.47974	0.0:0.9074:0.0:0.0926	.	272	O43895	XPP2_HUMAN	F	272	ENSP00000360147:S272F	ENSP00000360147:S272F	S	+	2	0	XPNPEP2	128713477	0.002000	0.14202	0.629000	0.29254	0.144000	0.21451	0.181000	0.16880	1.070000	0.40811	0.436000	0.28706	TCT		0.483	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		65	65	0	0	0	1	0	65	65				
CELSR1	9620	broad.mit.edu	37	22	46931067	46931067	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:46931067C>T	ENST00000262738.3	-	1	2000	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.M667I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	667	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGGAGGAGCTCATGGGGGGCG	0.637																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1999-2001)atG>atA		cadherin, EGF LAG seven-pass G-type receptor 1							25.0	19.0	21.0					22																	46931067		2193	4294	6487	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931067C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2001G>A	22.37:g.46931067C>T	ENSP00000262738:p.Met667Ile					CELSR1_ENST00000395964.1_Missense_Mutation_p.M667I	p.M667I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2000	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	667			Cadherin 4.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2001G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546848	0.65198	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.01599	4.74;4.74	4.52	3.42	0.39159	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	U	0.000000	T	0.03095	0.0091	L	0.39566	1.225	0.37623	D	0.921399	P	0.38250	0.624	B	0.44044	0.439	T	0.57877	-0.7735	10	0.49607	T	0.09	.	13.5597	0.61782	0.0:0.8428:0.1572:0.0	.	667	Q9NYQ6	CELR1_HUMAN	I	667	ENSP00000262738:M667I;ENSP00000379293:M667I	ENSP00000262738:M667I	M	-	3	0	CELSR1	45309731	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.761000	0.68801	2.072000	0.62099	0.313000	0.20887	ATG		0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		3	20	0	0	0	1	0	3	20				
LRRIQ1	84125	broad.mit.edu	37	12	85450762	85450762	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85450762G>C	ENST00000393217.2	+	8	2252	c.2191G>C	c.(2191-2193)Gag>Cag	p.E731Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	731										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTGTGTATCAGAGTCAACCCT	0.333																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2191-2193)Gag>Cag		leucine-rich repeats and IQ motif containing 1							205.0	225.0	218.0					12																	85450762		2203	4298	6501	SO:0001583	missense	84125							g.chr12:85450762G>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2191G>C	12.37:g.85450762G>C	ENSP00000376910:p.Glu731Gln						p.E731Q	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2252	+			731					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2191G>C	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	7.109	0.575587	0.13623	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.50813	0.73	5.66	-1.96	0.07525	.	1.499200	0.04104	N	0.313437	T	0.16938	0.0407	N	0.00926	-1.1	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.11329	0.006;0.006	T	0.17715	-1.0360	10	0.11794	T	0.64	.	6.4055	0.21662	0.3878:0.3461:0.2661:0.0	.	731;706	Q96JM4;C9JI57	LRIQ1_HUMAN;.	Q	731;706;731	ENSP00000376910:E731Q	ENSP00000256007:E731Q	E	+	1	0	LRRIQ1	83974893	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.189000	0.09629	-0.235000	0.09767	-0.274000	0.10170	GAG		0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		114	460	0	0	0	1	0	114	460				
RPN2	6185	broad.mit.edu	37	20	35838545	35838545	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:35838545G>C	ENST00000237530.6	+	8	1274	c.963G>C	c.(961-963)caG>caC	p.Q321H	RPN2_ENST00000373622.5_Missense_Mutation_p.Q289H	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	321					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGTCCTCCAGAAGACATCCT	0.478																																						ENST00000237530.6																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24						c.(961-963)caG>caC		ribophorin II							100.0	90.0	94.0					20																	35838545		2203	4300	6503	SO:0001583	missense	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35838545G>C	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.963G>C	20.37:g.35838545G>C	ENSP00000237530:p.Gln321His					RPN2_ENST00000373622.5_Missense_Mutation_p.Q289H	p.Q321H	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN			8	1274	+		Myeloproliferative disorder(115;0.00878)	321					Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	c.963G>C	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945212	0.73672	.	.	ENSG00000118705	ENST00000456102;ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.27	4.31	0.51392	.	0.114053	0.64402	D	0.000006	T	0.47488	0.1448	L	0.44542	1.39	0.41583	D	0.98875	P;D;P;P	0.55800	0.954;0.973;0.952;0.921	P;P;P;P	0.57776	0.663;0.663;0.827;0.747	T	0.47182	-0.9137	10	0.56958	D	0.05	-11.8421	8.1827	0.31319	0.1783:0.0:0.8217:0.0	.	196;289;321;321	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	H	164;321;289;337;337	ENSP00000399137:Q164H;ENSP00000237530:Q321H;ENSP00000362724:Q289H;ENSP00000362735:Q337H	ENSP00000237530:Q321H	Q	+	3	2	RPN2	35271959	0.999000	0.42202	1.000000	0.80357	0.961000	0.63080	0.464000	0.21988	1.419000	0.47118	0.591000	0.81541	CAG		0.478	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		35	88	0	0	0	1	0	35	88				
ZNF569	148266	broad.mit.edu	37	19	37904385	37904385	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:37904385G>A	ENST00000316950.6	-	6	1732	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	ZNF569_ENST00000392149.2_Missense_Mutation_p.S392F|ZNF569_ENST00000392150.2_Missense_Mutation_p.S233F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	392					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGCTTTGAGAGAAGGCTTT	0.393																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1174-1176)tCt>tTt		zinc finger protein 569							100.0	95.0	96.0					19																	37904385		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904385G>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1175C>T	19.37:g.37904385G>A	ENSP00000325018:p.Ser392Phe					ZNF569_ENST00000392149.2_Missense_Mutation_p.S392F|ZNF569_ENST00000392150.2_Missense_Mutation_p.S233F	p.S392F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1732	-			392					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.1175C>T	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565321	0.27915	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.08008	3.14;3.14	3.68	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37348	N	0.002132	T	0.19725	0.0474	L	0.60067	1.865	0.09310	N	1	B;D	0.76494	0.266;0.999	B;D	0.81914	0.071;0.995	T	0.01488	-1.1342	10	0.62326	D	0.03	.	8.1376	0.31064	0.094:0.1612:0.7448:0.0	.	233;392	Q17RR6;Q5MCW4	.;ZN569_HUMAN	F	392;48;233	ENSP00000325018:S392F;ENSP00000375993:S233F	ENSP00000325018:S392F	S	-	2	0	ZNF569	42596225	0.000000	0.05858	0.977000	0.42913	0.981000	0.71138	-3.324000	0.00512	0.529000	0.28599	0.655000	0.94253	TCT		0.393	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		23	107	0	0	0	1	0	23	107				
PPRC1	23082	broad.mit.edu	37	10	103909730	103909730	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:103909730G>C	ENST00000278070.2	+	14	4978	c.4939G>C	c.(4939-4941)Gat>Cat	p.D1647H	NOLC1_ENST00000405356.1_5'Flank|NOLC1_ENST00000605788.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.D1383H|NOLC1_ENST00000603742.1_5'Flank|PPRC1_ENST00000370012.1_Missense_Mutation_p.D614H|NOLC1_ENST00000488254.2_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGCAAATTTGATTCTCTTGA	0.473																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4939-4941)Gat>Cat		peroxisome proliferator-activated receptor gamma, coactivator-related 1							146.0	156.0	153.0					10																	103909730		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103909730G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4939G>C	10.37:g.103909730G>C	ENSP00000278070:p.Asp1647His					PPRC1_ENST00000413464.2_Missense_Mutation_p.D1383H|PPRC1_ENST00000370012.1_Missense_Mutation_p.D614H	p.D1647H	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	14	4978	+		Colorectal(252;0.122)	1647					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4939G>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513140	0.64522	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.38887	1.45;1.59;1.11	5.11	4.19	0.49359	.	0.287953	0.38897	N	0.001532	T	0.37265	0.0997	L	0.35341	1.055	0.38924	D	0.957798	P;P;B	0.40431	0.595;0.717;0.307	B;B;B	0.41271	0.192;0.352;0.134	T	0.42899	-0.9424	10	0.62326	D	0.03	.	15.4995	0.75684	0.0:0.1389:0.8611:0.0	.	1383;1525;1647	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	H	1647;1383;614	ENSP00000278070:D1647H;ENSP00000399743:D1383H;ENSP00000359029:D614H	ENSP00000278070:D1647H	D	+	1	0	PPRC1	103899720	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.345000	0.52182	1.341000	0.45600	0.561000	0.74099	GAT		0.473	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		57	216	0	0	0	1	0	57	216				
GGT1	2678	broad.mit.edu	37	22	25023940	25023940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:25023940C>T	ENST00000400382.1	+	13	2085	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	GGT1_ENST00000406383.2_Nonsense_Mutation_p.Q444*|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404920.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000400380.1_Nonsense_Mutation_p.Q444*|GGT1_ENST00000403838.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000248923.4_Nonsense_Mutation_p.Q444*|GGT1_ENST00000404532.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000401885.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000404223.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000400383.1_Nonsense_Mutation_p.Q444*			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	444					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CAATTTCATCCAGCCAGGTAT	0.622																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(1330-1332)Cag>Tag		gamma-glutamyltransferase 1	Glutathione(DB00143)						41.0	48.0	46.0					22																	25023940		2201	4296	6497	SO:0001587	stop_gained	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25023940C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1330C>T	22.37:g.25023940C>T	ENSP00000383232:p.Gln444*					GGT1_ENST00000404920.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000401885.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000400380.1_Nonsense_Mutation_p.Q444*|GGT1_ENST00000400383.1_Nonsense_Mutation_p.Q444*|GGT1_ENST00000248923.4_Nonsense_Mutation_p.Q444*|GGT1_ENST00000403838.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000406383.2_Nonsense_Mutation_p.Q444*|GGT1_ENST00000404532.1_Nonsense_Mutation_p.Q100*|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404223.1_Nonsense_Mutation_p.Q100*	p.Q444*			P19440	GGT1_HUMAN			13	2085	+			444					Q08247|Q14404|Q8TBS1|Q9UMK1	Nonsense_Mutation	SNP	ENST00000400382.1	37	c.1330C>T	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	7.881	0.730273	0.15507	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383;ENST00000401885;ENST00000404532;ENST00000403838;ENST00000404223;ENST00000404920	.	.	.	3.49	-5.9	0.02275	.	0.695677	0.14253	N	0.331313	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7381	6.8621	0.24072	0.2725:0.4068:0.3207:0.0	.	.	.	.	X	444;444;444;444;444;444;100;100;100;100;100	.	ENSP00000248923:Q444X	Q	+	1	0	GGT1	23353940	0.000000	0.05858	0.017000	0.16124	0.019000	0.09904	-0.206000	0.09398	-1.127000	0.02925	-0.552000	0.04208	CAG		0.622	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		32	96	0	0	0	1	0	32	96				
TMC7	79905	broad.mit.edu	37	16	19027857	19027857	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:19027857G>C	ENST00000304381.5	+	3	527	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	TMC7_ENST00000421369.3_Missense_Mutation_p.E23Q|TMC7_ENST00000569532.1_Missense_Mutation_p.E133Q	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	133					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAGGTTCCTAGAGAAGGCTCG	0.537																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(67-69)Gag>Cag		transmembrane channel-like 7							122.0	97.0	105.0					16																	19027857		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19027857G>C	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.397G>C	16.37:g.19027857G>C	ENSP00000304710:p.Glu133Gln					TMC7_ENST00000304381.5_Missense_Mutation_p.E133Q|TMC7_ENST00000569532.1_Missense_Mutation_p.E133Q	p.E23Q	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			3	625	+			133					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.67G>C	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902372	0.72754	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.50548	0.74;0.74	5.38	5.38	0.77491	.	0.528716	0.20912	N	0.083450	T	0.60143	0.2246	L	0.46157	1.445	0.39260	D	0.964196	D;B;B	0.67145	0.996;0.151;0.157	D;B;B	0.63703	0.917;0.089;0.097	T	0.59198	-0.7499	10	0.39692	T	0.17	.	16.0463	0.80724	0.0:0.0:1.0:0.0	.	133;133;133	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	Q	133;23	ENSP00000304710:E133Q;ENSP00000397081:E23Q	ENSP00000304710:E133Q	E	+	1	0	TMC7	18935358	1.000000	0.71417	0.909000	0.35828	0.859000	0.49053	4.881000	0.63114	2.527000	0.85204	0.448000	0.29417	GAG		0.537	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		15	38	0	0	0	1	0	15	38				
SRCAP	10847	broad.mit.edu	37	16	30721294	30721294	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:30721294G>A	ENST00000262518.4	+	8	1364	c.979G>A	c.(979-981)Gag>Aag	p.E327K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E327K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E327K|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	327	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTTCGCCGTGAGGGAGAATT	0.542																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(979-981)Gag>Aag		Snf2-related CREBBP activator protein							117.0	90.0	100.0					16																	30721294		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30721294G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.979G>A	16.37:g.30721294G>A	ENSP00000262518:p.Glu327Lys					SRCAP_ENST00000395059.2_Missense_Mutation_p.E327K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E327K	p.E327K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		8	1364	+			327			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.979G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480363	0.63849	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93659	-3.26;-3.22;-3.18	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000015	D	0.96399	0.8825	M	0.72894	2.215	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.96436	0.9323	10	0.72032	D	0.01	-15.3101	18.0804	0.89440	0.0:0.0:1.0:0.0	.	327;327	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	K	327	ENSP00000262518:E327K;ENSP00000378499:E327K;ENSP00000343042:E327K	ENSP00000262518:E327K	E	+	1	0	SRCAP	30628795	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.820000	0.92003	2.808000	0.96608	0.655000	0.94253	GAG		0.542	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		13	30	0	0	0	1	0	13	30				
HTT	3064	broad.mit.edu	37	4	3240619	3240619	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:3240619C>T	ENST00000355072.5	+	66	9274	c.9129C>T	c.(9127-9129)ttC>ttT	p.F3043F		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3043					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTCCAACTTCACGCAGAGGG	0.642																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(9127-9129)ttC>ttT		huntingtin							28.0	31.0	30.0					4																	3240619		2113	4214	6327	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3240619C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.9129C>T	4.37:g.3240619C>T							p.F3043F	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	66	9274	+		all_epithelial(65;0.18)	3043					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.9129C>T	CCDS43206.1																																																																																				0.642	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		5	14	0	0	0	1	0	5	14				
IGF2R	3482	broad.mit.edu	37	6	160483568	160483568	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:160483568C>T	ENST00000356956.1	+	26	3735	c.3587C>T	c.(3586-3588)tCa>tTa	p.S1196L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1196					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TTACAGGGCTCACCAGCATTT	0.473																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3586-3588)tCa>tTa		insulin-like growth factor 2 receptor							121.0	107.0	112.0					6																	160483568		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160483568C>T	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3587C>T	6.37:g.160483568C>T	ENSP00000349437:p.Ser1196Leu						p.S1196L	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	26	3735	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1196					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.3587C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282329	0.80692	.	.	ENSG00000197081	ENST00000356956	T	0.03717	3.83	4.82	4.82	0.62117	Mannose-6-phosphate receptor, binding (1);	0.068151	0.64402	D	0.000008	T	0.12050	0.0293	M	0.81179	2.53	0.54753	D	0.999989	D	0.76494	0.999	D	0.68483	0.958	T	0.01078	-1.1459	10	0.51188	T	0.08	-4.9161	16.0485	0.80735	0.0:1.0:0.0:0.0	.	1196	P11717	MPRI_HUMAN	L	1196	ENSP00000349437:S1196L	ENSP00000349437:S1196L	S	+	2	0	IGF2R	160403558	1.000000	0.71417	0.007000	0.13788	0.013000	0.08279	6.686000	0.74548	2.384000	0.81235	0.557000	0.71058	TCA		0.473	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		14	56	0	0	0	1	0	14	56				
KRTAP4-8	728224	broad.mit.edu	37	17	39254126	39254126	+	Missense_Mutation	SNP	C	C	T	rs202107241		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:39254126C>T	ENST00000333822.4	-	1	267	c.211G>A	c.(211-213)Gtg>Atg	p.V71M		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CAGCTGGACACACAGCAGCTG	0.667																																						ENST00000333822.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(211-213)Gtg>Atg		keratin associated protein 4-8							5.0	8.0	7.0					17																	39254126		619	1441	2060	SO:0001583	missense	728224					keratin filament		g.chr17:39254126C>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.211G>A	17.37:g.39254126C>T	ENSP00000328444:p.Val71Met						p.V71M	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	267	-			71			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.211G>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	8.585	0.883304	0.17467	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01430	4.9	3.55	-7.1	0.01547	.	3.062900	0.01485	U	0.016837	T	0.03477	0.0100	M	0.81497	2.545	0.09310	N	1	P	0.40266	0.71	B	0.43623	0.425	T	0.15896	-1.0421	10	0.45353	T	0.12	.	7.8878	0.29661	0.0:0.5469:0.2514:0.2017	.	71	Q9BYQ9	KRA48_HUMAN	M	71	ENSP00000328444:V71M	ENSP00000414561:V71M	V	-	1	0	KRTAP4-8	36507652	0.000000	0.05858	0.019000	0.16419	0.121000	0.20230	-2.017000	0.01445	-1.974000	0.00998	-1.450000	0.01041	GTG		0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		5	40	0	0	0	1	0	5	40				
ATP2B1	490	broad.mit.edu	37	12	90018085	90018085	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:90018085C>G	ENST00000428670.3	-	9	1675	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	ATP2B1_ENST00000359142.3_Missense_Mutation_p.E407Q|ATP2B1_ENST00000348959.3_Missense_Mutation_p.E407Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E407Q|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E150Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	407					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GGTGTGCACTCAGCAAGCCAT	0.393																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1219-1221)Gag>Cag		ATPase, Ca++ transporting, plasma membrane 1							79.0	74.0	76.0					12																	90018085		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90018085C>G	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1219G>C	12.37:g.90018085C>G	ENSP00000392043:p.Glu407Gln					ATP2B1_ENST00000348959.3_Missense_Mutation_p.E407Q|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E407Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E407Q|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E150Q	p.E407Q			P20020	AT2B1_HUMAN			9	1675	-			407					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.1219G>C	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457231	0.63401	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.93811	-3.29;-3.27;-3.29;-3.29;-2.37	5.55	5.55	0.83447	.	0.148401	0.64402	D	0.000011	D	0.91287	0.7253	L	0.47716	1.5	0.80722	D	1	B;B;B	0.25105	0.002;0.118;0.013	B;B;B	0.27262	0.003;0.078;0.017	D	0.87519	0.2445	9	.	.	.	-21.5539	19.4911	0.95050	0.0:1.0:0.0:0.0	.	407;407;407	P20020-3;P20020-2;P20020-6	.;.;.	Q	407;407;407;407;150	ENSP00000261173:E407Q;ENSP00000343599:E407Q;ENSP00000352054:E407Q;ENSP00000392043:E407Q;ENSP00000376869:E150Q	.	E	-	1	0	ATP2B1	88542216	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	3.312000	0.51927	2.610000	0.88304	0.591000	0.81541	GAG		0.393	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		18	60	0	0	0	1	0	18	60				
C19orf44	84167	broad.mit.edu	37	19	16613927	16613927	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:16613927G>A	ENST00000221671.3	+	3	967	c.811G>A	c.(811-813)Gca>Aca	p.A271T	C19orf44_ENST00000594035.1_Missense_Mutation_p.A271T|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	271										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACTCTCCAGCGCAAAGCCTTC	0.473																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(811-813)Gca>Aca		chromosome 19 open reading frame 44							98.0	90.0	93.0					19																	16613927		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16613927G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.811G>A	19.37:g.16613927G>A	ENSP00000221671:p.Ala271Thr					CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.A271T	p.A271T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			3	967	+			271					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.811G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	7.977	0.750344	0.15778	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.33	-5.1	0.02911	.	1.426620	0.04566	N	0.392336	T	0.14830	0.0358	N	0.25647	0.755	0.09310	N	1	P;D	0.56521	0.91;0.976	B;B	0.43728	0.148;0.429	T	0.29119	-1.0022	9	0.05721	T	0.95	0.9042	1.3374	0.02148	0.1351:0.3157:0.2906:0.2586	.	271;271	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	T	271	.	ENSP00000221671:A271T	A	+	1	0	C19orf44	16474927	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.861000	0.04268	-1.308000	0.02318	-0.976000	0.02587	GCA		0.473	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		4	70	0	0	0	1	0	4	70				
DRC1	92749	broad.mit.edu	37	2	26647185	26647185	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:26647185G>C	ENST00000288710.2	+	4	477	c.403G>C	c.(403-405)Gat>Cat	p.D135H		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	135					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											GGACAAATTCGATGAAATCAC	0.493																																						ENST00000288710.2																			0											c.(403-405)Gat>Cat		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							170.0	167.0	168.0					2																	26647185		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26647185G>C	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.403G>C	2.37:g.26647185G>C	ENSP00000288710:p.Asp135His						p.D135H	NM_145038.2	NP_659475.2					4	477	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.403G>C	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742611	0.30865	.	.	ENSG00000157856	ENST00000288710	T	0.15487	2.42	5.45	3.56	0.40772	.	0.377529	0.27500	N	0.019090	T	0.25680	0.0625	L	0.44542	1.39	0.33667	D	0.610473	P	0.47962	0.903	P	0.57548	0.823	T	0.29579	-1.0007	10	0.51188	T	0.08	-30.6576	8.8977	0.35474	0.0806:0.0:0.7726:0.1467	.	135	Q96MC2	CC164_HUMAN	H	135	ENSP00000288710:D135H	ENSP00000288710:D135H	D	+	1	0	CCDC164	26500689	1.000000	0.71417	0.811000	0.32455	0.013000	0.08279	4.023000	0.57211	1.449000	0.47699	-0.119000	0.15052	GAT		0.493	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		37	150	0	0	0	1	0	37	150				
MSL1	339287	broad.mit.edu	37	17	38289863	38289863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:38289863C>T	ENST00000398532.4	+	7	1948	c.1633C>T	c.(1633-1635)Cag>Tag	p.Q545*	MSL1_ENST00000579565.1_Nonsense_Mutation_p.Q282*|MSL1_ENST00000578648.1_Nonsense_Mutation_p.Q529*	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	545					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						GAAAGGAATTCAGGAATCTGA	0.408																																						ENST00000398532.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						c.(1633-1635)Cag>Tag		male-specific lethal 1 homolog (Drosophila)							44.0	40.0	41.0					17																	38289863		1862	4099	5961	SO:0001587	stop_gained	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38289863C>T		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1633C>T	17.37:g.38289863C>T	ENSP00000381543:p.Gln545*					MSL1_ENST00000579565.1_Nonsense_Mutation_p.Q282*|MSL1_ENST00000578648.1_Nonsense_Mutation_p.Q529*	p.Q545*			Q68DK7	MSL1_HUMAN			7	1948	+			545					Q0VF46|Q69Z03	Nonsense_Mutation	SNP	ENST00000398532.4	37	c.1633C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.242724	0.95272	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	5.75	5.75	0.90469	.	0.173733	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-6.262	18.7135	0.91667	0.0:1.0:0.0:0.0	.	.	.	.	X	282;545	.	ENSP00000341409:Q282X	Q	+	1	0	MSL1	35543389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.028000	0.70889	2.720000	0.93068	0.555000	0.69702	CAG		0.408	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2	NM_001012241		8	19	0	0	0	1	0	8	19				
MFI2	4241	broad.mit.edu	37	3	196737593	196737593	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:196737593G>A	ENST00000296350.5	-	10	1419	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	436	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CCGGCTGCGGGAACCAGGCCG	0.607																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1306-1308)Ccc>Tcc		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							42.0	44.0	43.0					3																	196737593		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196737593G>A		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1306C>T	3.37:g.196737593G>A	ENSP00000296350:p.Pro436Ser						p.P436S	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	10	1419	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		436			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.1306C>T	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062336	0.55432	.	.	ENSG00000163975	ENST00000296350	T	0.57907	0.37	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83109	-0.0124	10	0.87932	D	0	-22.1823	17.9744	0.89122	0.0:0.0:1.0:0.0	.	436	P08582	TRFM_HUMAN	S	436	ENSP00000296350:P436S	ENSP00000296350:P436S	P	-	1	0	MFI2	198221990	1.000000	0.71417	0.138000	0.22173	0.014000	0.08584	5.687000	0.68219	2.575000	0.86900	0.563000	0.77884	CCC		0.607	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			10	60	0	0	0	1	0	10	60				
TNS4	84951	broad.mit.edu	37	17	38636972	38636972	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:38636972G>T	ENST00000254051.6	-	9	1879	c.1721C>A	c.(1720-1722)tCc>tAc	p.S574Y		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	574	Phosphatase tensin-type.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTTCTGGCAGGAGGCTGGGCT	0.622																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1720-1722)tCc>tAc		tensin 4							59.0	55.0	57.0					17																	38636972		2203	4300	6503	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38636972G>T	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1721C>A	17.37:g.38636972G>T	ENSP00000254051:p.Ser574Tyr						p.S574Y	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		9	1879	-		Breast(137;0.000496)	574			Phosphatase tensin-type.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.1721C>A	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572458	0.45798	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.44482	0.92	4.29	4.29	0.51040	Pleckstrin homology-type (1);	0.531752	0.17370	N	0.176703	T	0.59211	0.2177	M	0.62723	1.935	0.42130	D	0.991462	D	0.76494	0.999	D	0.68192	0.956	T	0.61836	-0.6981	10	0.72032	D	0.01	-14.2486	12.4166	0.55496	0.0:0.0:1.0:0.0	.	574	Q8IZW8	TENS4_HUMAN	Y	574	ENSP00000254051:S574Y	ENSP00000254051:S574Y	S	-	2	0	TNS4	35890498	0.963000	0.33076	0.950000	0.38849	0.305000	0.27757	3.979000	0.56888	2.386000	0.81285	0.462000	0.41574	TCC		0.622	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		9	34	1	0	5.4927e-09	1	5.71371e-09	9	34				
PRPF3	9129	broad.mit.edu	37	1	150305455	150305455	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150305455G>C	ENST00000324862.6	+	6	678	c.513G>C	c.(511-513)aaG>aaC	p.K171N	PRPF3_ENST00000414970.2_Missense_Mutation_p.K122N|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Missense_Mutation_p.K36N	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	171					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)		CACAGCCAAAGACTCCTTCTT	0.443																																					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.(511-513)aaG>aaC		pre-mRNA processing factor 3							52.0	52.0	52.0					1																	150305455		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150305455G>C	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.513G>C	1.37:g.150305455G>C	ENSP00000315379:p.Lys171Asn					PRPF3_ENST00000543398.1_Missense_Mutation_p.K36N|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.K122N	p.K171N	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	6	678	+	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)		171					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.513G>C	CCDS951.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937886	0.34189	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	T;T	0.78003	-1.11;-1.14	5.33	5.33	0.75918	.	0.494236	0.23902	N	0.043438	T	0.45716	0.1356	N	0.19112	0.55	0.80722	D	1	B;B	0.18610	0.029;0.009	B;B	0.18263	0.021;0.005	T	0.43782	-0.9370	10	0.16896	T	0.51	-15.8685	10.222	0.43203	0.1222:0.0:0.8778:0.0	.	122;171	E7EVD1;O43395	.;PRPF3_HUMAN	N	171;122;36	ENSP00000315379:K171N;ENSP00000387844:K122N	ENSP00000315379:K171N	K	+	3	2	PRPF3	148572079	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.971000	0.49248	2.491000	0.84063	0.650000	0.86243	AAG		0.443	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		4	43	0	0	0	1	0	4	43				
GPR112	139378	broad.mit.edu	37	X	135429620	135429620	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:135429620C>G	ENST00000394143.1	+	6	4046	c.3755C>G	c.(3754-3756)tCt>tGt	p.S1252C	GPR112_ENST00000394141.1_Missense_Mutation_p.S1047C|GPR112_ENST00000412101.1_Missense_Mutation_p.S1047C|GPR112_ENST00000287534.4_Missense_Mutation_p.S1189C|GPR112_ENST00000370652.1_Missense_Mutation_p.S1252C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1252					G-protein coupled receptor signaling pathway (GO:0007186)|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(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTAGCACCTCTGTCTTATCT	0.428																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3754-3756)tCt>tGt		G protein-coupled receptor 112							189.0	159.0	169.0					X																	135429620		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429620C>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3755C>G	X.37:g.135429620C>G	ENSP00000377699:p.Ser1252Cys					GPR112_ENST00000412101.1_Missense_Mutation_p.S1047C|GPR112_ENST00000394141.1_Missense_Mutation_p.S1047C|GPR112_ENST00000370652.1_Missense_Mutation_p.S1252C|GPR112_ENST00000287534.4_Missense_Mutation_p.S1189C	p.S1252C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4046	+	Acute lymphoblastic leukemia(192;0.000127)		1252					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3755C>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	12.97	2.098894	0.37048	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	3.05	2.15	0.27550	.	.	.	.	.	T	0.49167	0.1541	L	0.32530	0.975	0.09310	N	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.993;0.996;0.99	T	0.28964	-1.0027	9	0.87932	D	0	.	7.2964	0.26395	0.263:0.737:0.0:0.0	.	1189;1047;1252	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	C	1252;1252;1047;1189;1047	ENSP00000377699:S1252C;ENSP00000359686:S1252C;ENSP00000416526:S1047C;ENSP00000287534:S1189C;ENSP00000377697:S1047C	ENSP00000287534:S1189C	S	+	2	0	GPR112	135257286	0.016000	0.18221	0.007000	0.13788	0.138000	0.21146	1.162000	0.31786	0.435000	0.26365	0.525000	0.51046	TCT		0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			40	46	0	0	0	1	0	40	46				
NCAPD2	9918	broad.mit.edu	37	12	6637460	6637460	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6637460C>G	ENST00000315579.5	+	25	4064	c.3265C>G	c.(3265-3267)Ctg>Gtg	p.L1089V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.L1044V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1089					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTTTCCCAATCTGGTGGACCC	0.562																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(3265-3267)Ctg>Gtg		non-SMC condensin I complex, subunit D2							194.0	198.0	197.0					12																	6637460		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6637460C>G	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3265C>G	12.37:g.6637460C>G	ENSP00000325017:p.Leu1089Val					NCAPD2_ENST00000545962.1_Missense_Mutation_p.L1044V	p.L1089V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			25	4064	+			1089					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.3265C>G	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623019	0.66901	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.50277	0.75;0.75	5.93	3.09	0.35607	Armadillo-like helical (1);Armadillo-type fold (1);	0.210963	0.41712	N	0.000831	T	0.56077	0.1961	L	0.60455	1.87	0.35426	D	0.793629	D;B;D	0.55605	0.965;0.277;0.972	P;B;P	0.58721	0.758;0.425;0.844	T	0.63825	-0.6549	10	0.51188	T	0.08	-9.5291	9.2134	0.37333	0.0:0.7481:0.1209:0.1311	.	1044;1050;1089	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	V	1089;1044	ENSP00000325017:L1089V;ENSP00000444417:L1044V	ENSP00000325017:L1089V	L	+	1	2	NCAPD2	6507721	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.995000	0.40767	0.390000	0.25115	0.561000	0.74099	CTG		0.562	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		70	168	0	0	0	1	0	70	168				
SLFN5	162394	broad.mit.edu	37	17	33585712	33585712	+	Start_Codon_SNP	SNP	G	G	A	rs140285201		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:33585712G>A	ENST00000299977.4	+	2	151	c.3G>A	c.(1-3)atG>atA	p.M1I	SLFN5_ENST00000542451.1_Start_Codon_SNP_p.M1I|SLFN5_ENST00000592325.1_Start_Codon_SNP_p.M1I	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	1					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		CTGAGAAGATGAGTCTTAGGA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		21937	0.0		0.0	False		,,,				2504	0.001					ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1-3)atG>atA		schlafen family member 5		G	ILE/MET	0,4406		0,0,2203	71.0	68.0	69.0		3	2.8	0.9	17	dbSNP_134	69	4,8596	4.3+/-15.6	0,4,4296	yes	missense	SLFN5	NM_144975.3	10	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	1/892	33585712	4,13002	2203	4300	6503	SO:0001582	initiator_codon_variant	162394				cell differentiation		ATP binding	g.chr17:33585712G>A	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.3G>A	17.37:g.33585712G>A	ENSP00000299977:p.Met1Ile					SLFN5_ENST00000542451.1_Start_Codon_SNP_p.M1I|SLFN5_ENST00000592325.1_Start_Codon_SNP_p.M1I	p.M1I	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	151	+		Ovarian(249;0.17)	1					Q08AF2|Q8WU54|Q96A82	Translation_Start_Site	SNP	ENST00000299977.4	37	c.3G>A	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502092	0.85176	0.0	4.65E-4	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.08282	4.38;3.11	3.76	2.78	0.32641	.	0.000000	0.41097	D	0.000941	T	0.08670	0.0215	.	.	.	0.80722	D	1	P;D;P	0.53885	0.895;0.963;0.734	B;P;B	0.44359	0.283;0.447;0.203	T	0.03587	-1.1022	9	0.66056	D	0.02	.	6.4529	0.21914	0.1319:0.0:0.8681:0.0	.	1;1;1	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	I	1	ENSP00000299977:M1I;ENSP00000440537:M1I	ENSP00000299977:M1I	M	+	3	0	SLFN5	30609825	0.007000	0.16637	0.874000	0.34290	0.770000	0.43624	1.371000	0.34250	2.096000	0.63516	0.655000	0.94253	ATG		0.453	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975	Missense_Mutation	17	48	0	0	0	1	0	17	48				
DOCK10	55619	broad.mit.edu	37	2	225729338	225729338	+	Missense_Mutation	SNP	C	C	G	rs201069622		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:225729338C>G	ENST00000258390.7	-	13	1601	c.1534G>C	c.(1534-1536)Gaa>Caa	p.E512Q	DOCK10_ENST00000409592.3_Missense_Mutation_p.E506Q	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	512					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGACTTTTTCGATTTTGGCC	0.368																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(1516-1518)Gaa>Caa		dedicator of cytokinesis 10							83.0	76.0	78.0					2																	225729338		1824	4087	5911	SO:0001583	missense	55619						GTP binding	g.chr2:225729338C>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1534G>C	2.37:g.225729338C>G	ENSP00000258390:p.Glu512Gln					DOCK10_ENST00000258390.7_Missense_Mutation_p.E512Q	p.E506Q			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	13	1629	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	512					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.1516G>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914258	0.92178	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.52295	0.67;0.67	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	M	0.90145	3.09	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.99	T	0.80243	-0.1463	10	0.87932	D	0	.	20.3275	0.98706	0.0:1.0:0.0:0.0	.	512;512;506	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	Q	506;512	ENSP00000386694:E506Q;ENSP00000258390:E512Q	ENSP00000258390:E512Q	E	-	1	0	DOCK10	225437582	1.000000	0.71417	0.949000	0.38748	0.993000	0.82548	7.445000	0.80570	2.886000	0.99085	0.644000	0.83932	GAA		0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			12	46	0	0	0	1	0	12	46				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		5	54	0	0	0	1	0	5	54				
LGALS3	3958	broad.mit.edu	37	14	55604802	55604802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:55604802C>T	ENST00000254301.9	+	3	319	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	LGALS3_ENST00000554715.1_Nonsense_Mutation_p.Q20*|LGALS3_ENST00000553755.1_3'UTR	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	20					eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						CCCAAACCCTCAAGGATGGCC	0.582																																						ENST00000254301.9																			0				central_nervous_system(1)|endometrium(1)|prostate(1)	3						c.(58-60)Caa>Taa		lectin, galactoside-binding, soluble, 3							40.0	41.0	41.0					14																	55604802		1871	4097	5968	SO:0001587	stop_gained	3958				cell differentiation|innate immune response|mRNA processing|RNA splicing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding	g.chr14:55604802C>T	M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6563	protein-coding gene	gene with protein product	"""galectin 3"""	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.58C>T	14.37:g.55604802C>T	ENSP00000254301:p.Gln20*					LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000554715.1_Nonsense_Mutation_p.Q20*	p.Q20*	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN			3	319	+			20					B2RC38|Q16005|Q6IBA7|Q96J47	Nonsense_Mutation	SNP	ENST00000254301.9	37	c.58C>T	CCDS41956.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813988	0.90790	.	.	ENSG00000131981	ENST00000553493;ENST00000254301;ENST00000554715	.	.	.	5.31	5.31	0.75309	.	0.246709	0.41712	D	0.000827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.0521	11.5919	0.50951	0.1779:0.8221:0.0:0.0	.	.	.	.	X	20	.	ENSP00000254301:Q20X	Q	+	1	0	LGALS3	54674555	0.999000	0.42202	0.998000	0.56505	0.973000	0.67179	2.570000	0.45981	2.466000	0.83321	0.655000	0.94253	CAA		0.582	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411309.1	NM_002306		12	35	0	0	0	1	0	12	35				
RABGGTB	5876	broad.mit.edu	37	1	76260321	76260321	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:76260321G>A	ENST00000319942.3	+	9	1053	c.982G>A	c.(982-984)Gag>Aag	p.E328K	RABGGTB_ENST00000496055.1_3'UTR|MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000535300.1_Missense_Mutation_p.E154K	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	328					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						TGTTCAGCCTGAGCTAGTGAG	0.363																																						ENST00000319942.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						c.(982-984)Gag>Aag		Rab geranylgeranyltransferase, beta subunit							116.0	113.0	114.0					1																	76260321		2203	4300	6503	SO:0001583	missense	5876				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	g.chr1:76260321G>A	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.982G>A	1.37:g.76260321G>A	ENSP00000317473:p.Glu328Lys					RABGGTB_ENST00000535300.1_Missense_Mutation_p.E154K|RABGGTB_ENST00000496055.1_3'UTR	p.E328K	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN			9	1053	+			328					Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	c.982G>A	CCDS669.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025168	0.75390	.	.	ENSG00000137955	ENST00000535300;ENST00000319942	.	.	.	4.96	4.96	0.65561	.	0.091159	0.85682	D	0.000000	T	0.37652	0.1011	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22347	-1.0219	9	0.42905	T	0.14	-19.2546	18.5747	0.91150	0.0:0.0:1.0:0.0	.	328	P53611	PGTB2_HUMAN	K	154;328	.	ENSP00000317473:E328K	E	+	1	0	RABGGTB	76032909	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.568000	0.98166	2.447000	0.82792	0.462000	0.41574	GAG		0.363	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		27	104	0	0	0	1	0	27	104				
MBD3	53615	broad.mit.edu	37	19	1585201	1585201	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:1585201C>A	ENST00000434436.3	-	2	252	c.123G>T	c.(121-123)aaG>aaT	p.K41N	MBD3_ENST00000156825.1_Missense_Mutation_p.K41N|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000590550.2_5'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Missense_Mutation_p.K9N	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	41	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGAACTTCTTCCCGCTCG	0.697																																						ENST00000156825.1																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(121-123)aaG>aaT		methyl-CpG binding domain protein 3							28.0	24.0	25.0					19																	1585201		2200	4299	6499	SO:0001583	missense	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1585201C>A	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.123G>T	19.37:g.1585201C>A	ENSP00000412302:p.Lys41Asn					MBD3_ENST00000592012.1_Missense_Mutation_p.K9N|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000590550.2_5'UTR|MBD3_ENST00000434436.3_Missense_Mutation_p.K41N	p.K41N	NM_003926.5	NP_003917.1	O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	2	144	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	41			MBD.		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	c.123G>T	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265495	0.95399	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.99582	-6.22	5.09	5.09	0.68999	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.85682	D	0.000000	D	0.99658	0.9873	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.978	D	0.97864	1.0282	10	0.56958	D	0.05	-46.4839	17.4574	0.87611	0.0:1.0:0.0:0.0	.	9;41	O95983-2;O95983	.;MBD3_HUMAN	N	9;41	ENSP00000156825:K41N	ENSP00000156825:K41N	K	-	3	2	MBD3	1536201	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.781000	0.62389	2.373000	0.80994	0.462000	0.41574	AAG		0.697	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		3	6	1	0	1	1	1	3	6				
YEATS2	55689	broad.mit.edu	37	3	183479317	183479317	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:183479317C>A	ENST00000305135.5	+	14	1874	c.1679C>A	c.(1678-1680)tCt>tAt	p.S560Y		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	560					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGTTTGCATCTATGCCACCT	0.383																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(1678-1680)tCt>tAt		YEATS domain containing 2							161.0	155.0	157.0					3																	183479317		1865	4085	5950	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183479317C>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1679C>A	3.37:g.183479317C>A	ENSP00000306983:p.Ser560Tyr						p.S560Y	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		14	1874	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		560					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1679C>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509968	0.64522	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.31510	1.49	6.03	5.16	0.70880	.	0.212247	0.40818	N	0.001019	T	0.20292	0.0488	N	0.19112	0.55	0.36895	D	0.890097	P	0.41947	0.766	B	0.34038	0.174	T	0.18241	-1.0343	10	0.72032	D	0.01	-21.1694	15.3849	0.74691	0.0:0.9336:0.0:0.0664	.	560	Q9ULM3	YETS2_HUMAN	Y	560	ENSP00000306983:S560Y	ENSP00000306983:S560Y	S	+	2	0	YEATS2	184962011	0.997000	0.39634	0.995000	0.50966	0.993000	0.82548	5.647000	0.67923	1.561000	0.49584	0.655000	0.94253	TCT		0.383	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		49	205	1	0	2.29192e-23	1	2.45682e-23	49	205				
ALPK1	80216	broad.mit.edu	37	4	113352354	113352354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:113352354C>T	ENST00000458497.1	+	11	1930	c.1651C>T	c.(1651-1653)Caa>Taa	p.Q551*	ALPK1_ENST00000177648.9_Nonsense_Mutation_p.Q551*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.Q473*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	551							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTCCTTGGATCAAGATGTGGA	0.493																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(1651-1653)Caa>Taa		alpha-kinase 1							90.0	88.0	89.0					4																	113352354		2203	4300	6503	SO:0001587	stop_gained	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352354C>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1651C>T	4.37:g.113352354C>T	ENSP00000398048:p.Gln551*					ALPK1_ENST00000177648.9_Nonsense_Mutation_p.Q551*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.Q473*	p.Q551*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	1930	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	551					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Nonsense_Mutation	SNP	ENST00000458497.1	37	c.1651C>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	37	6.062042	0.97246	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	.	.	.	4.51	0.462	0.16695	.	0.840721	0.10882	N	0.623664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-1.2885	8.7705	0.34728	0.1007:0.1838:0.6365:0.0791	.	.	.	.	X	551;551;473	.	ENSP00000177648:Q551X	Q	+	1	0	ALPK1	113571803	0.038000	0.19896	0.002000	0.10522	0.315000	0.28087	0.595000	0.24029	0.218000	0.20820	0.655000	0.94253	CAA		0.493	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		24	59	0	0	0	1	0	24	59				
SLC25A16	8034	broad.mit.edu	37	10	70253224	70253224	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:70253224G>C	ENST00000609923.1	-	5	623	c.525C>G	c.(523-525)ttC>ttG	p.F175L	SLC25A16_ENST00000539557.1_Missense_Mutation_p.F77L|SLC25A16_ENST00000265870.3_Intron	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	175					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						AAATTGTTTTGAAAGCATGAA	0.348																																						ENST00000265870.2																			0				endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						c.(523-525)ttC>ttG		solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16							99.0	90.0	93.0					10																	70253224		2203	4300	6503	SO:0001583	missense	8034				coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	g.chr10:70253224G>C	M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.525C>G	10.37:g.70253224G>C	ENSP00000476815:p.Phe175Leu					SLC25A16_ENST00000539557.1_Missense_Mutation_p.F77L|SLC25A16_ENST00000493963.1_5'UTR	p.F175L	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN			5	623	-			175					Q8N2U1	Missense_Mutation	SNP	ENST00000609923.1	37	c.525C>G	CCDS7280.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963674	0.74016	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	T;T	0.77877	-1.13;-1.13	6.07	5.15	0.70609	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	N	0.20766	0.605	0.80722	D	1	B	0.27192	0.171	B	0.31101	0.124	T	0.58989	-0.7538	10	0.15066	T	0.55	-13.6338	13.3359	0.60518	0.0792:0.0:0.9208:0.0	.	175	P16260	GDC_HUMAN	L	175;77	ENSP00000265870:F175L;ENSP00000443914:F77L	ENSP00000265870:F175L	F	-	3	2	SLC25A16	69923230	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.520000	0.67080	1.489000	0.48450	0.655000	0.94253	TTC		0.348	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048347.2			16	66	0	0	0	1	0	16	66				
MYO1B	4430	broad.mit.edu	37	2	192228948	192228948	+	Silent	SNP	C	C	T	rs532881047		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:192228948C>T	ENST00000392318.3	+	11	1225	c.978C>T	c.(976-978)ttC>ttT	p.F326F	MYO1B_ENST00000339514.4_Silent_p.F326F|MYO1B_ENST00000392316.1_Silent_p.F326F|MYO1B_ENST00000304164.4_Silent_p.F326F	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	326	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)			CATTCAGTTTCCGAACAGTTG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		18108	0.001		0.0	False		,,,				2504	0.0					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.(976-978)ttC>ttT		myosin IB							116.0	110.0	112.0					2																	192228948		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192228948C>T	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.978C>T	2.37:g.192228948C>T						MYO1B_ENST00000339514.4_Silent_p.F326F|MYO1B_ENST00000304164.4_Silent_p.F326F|MYO1B_ENST00000392316.1_Silent_p.F326F	p.F326F	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)		11	1225	+			326			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.978C>T	CCDS46477.1																																																																																				0.418	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		38	131	0	0	0	1	0	38	131				
ANO9	338440	broad.mit.edu	37	11	428114	428114	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:428114G>A	ENST00000332826.6	-	15	1392	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	436					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CGATGTAGATGAGAGACGAGA	0.577																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(1306-1308)ctC>ctT		anoctamin 9							171.0	166.0	168.0					11																	428114		2201	4299	6500	SO:0001819	synonymous_variant	338440					chloride channel complex	chloride channel activity	g.chr11:428114G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1308C>T	11.37:g.428114G>A							p.L436L	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			15	1392	-			436					B3KUC4|B4E134|Q8TEN4	Silent	SNP	ENST00000332826.6	37	c.1308C>T	CCDS31326.1																																																																																				0.577	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		17	51	0	0	0	1	0	17	51				
GPRC6A	222545	broad.mit.edu	37	6	117113562	117113562	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:117113562C>G	ENST00000310357.3	-	6	2545	c.2524G>C	c.(2524-2526)Gag>Cag	p.E842Q	GPRC6A_ENST00000368549.3_Missense_Mutation_p.E771Q|GPRC6A_ENST00000530250.1_Missense_Mutation_p.E667Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	842					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTGTTAATCTCTTGCTTACAA	0.388																																						ENST00000310357.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(2524-2526)Gag>Cag		G protein-coupled receptor, family C, group 6, member A							128.0	129.0	129.0					6																	117113562		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117113562C>G	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2524G>C	6.37:g.117113562C>G	ENSP00000309493:p.Glu842Gln					GPRC6A_ENST00000368549.3_Missense_Mutation_p.E771Q|GPRC6A_ENST00000530250.1_Missense_Mutation_p.E667Q	p.E842Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	6	2545	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	842					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.2524G>C	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880623	0.17467	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.92595	-2.85;-3.07;-3.07	4.11	2.29	0.28610	GPCR, family 3, C-terminal (1);	0.483171	0.18834	N	0.129878	T	0.80808	0.4694	N	0.19112	0.55	0.30352	N	0.784686	P;D;P	0.55800	0.566;0.973;0.954	B;P;P	0.48982	0.358;0.597;0.448	T	0.75619	-0.3255	10	0.48119	T	0.1	.	9.4168	0.38525	0.0:0.8214:0.0:0.1786	.	771;667;842	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	Q	842;771;667	ENSP00000309493:E842Q;ENSP00000357537:E771Q;ENSP00000433465:E667Q	ENSP00000309493:E842Q	E	-	1	0	GPRC6A	117220255	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	2.818000	0.48041	0.382000	0.24878	-0.194000	0.12790	GAG		0.388	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			27	103	0	0	0	1	0	27	103				
RFX7	64864	broad.mit.edu	37	15	56388408	56388408	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388408C>T	ENST00000559447.2	-	9	1498	c.1227G>A	c.(1225-1227)agG>agA	p.R409R	RFX7_ENST00000422057.1_Silent_p.R409R|RFX7_ENST00000423270.1_Silent_p.R506R|RFX7_ENST00000317318.6_Silent_p.R506R			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	409					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTGGAACACTCCTTGATTCTT	0.498																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1516-1518)agG>agA		regulatory factor X, 7							118.0	116.0	117.0					15																	56388408		2065	4207	6272	SO:0001819	synonymous_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388408C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1227G>A	15.37:g.56388408C>T						RFX7_ENST00000422057.1_Silent_p.R409R|RFX7_ENST00000559447.2_Silent_p.R409R|RFX7_ENST00000317318.6_Silent_p.R506R	p.R506R	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1517	-			409					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37	c.1518G>A																																																																																					0.498	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		11	56	0	0	0	1	0	11	56				
ZNF679	168417	broad.mit.edu	37	7	63727167	63727167	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:63727167G>A	ENST00000421025.1	+	5	1425	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	ZNF679_ENST00000255746.4_Missense_Mutation_p.D386N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	386					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(3)|lung(11)|skin(1)|stomach(1)	18						TGAAGAATGTGACAAAGCTTT	0.388																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(1156-1158)Gac>Aac		zinc finger protein 679							40.0	39.0	40.0					7																	63727167		692	1591	2283	SO:0001583	missense	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63727167G>A	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1156G>A	7.37:g.63727167G>A	ENSP00000416809:p.Asp386Asn					ZNF679_ENST00000255746.4_Missense_Mutation_p.D386N	p.D386N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	1425	+			386						Missense_Mutation	SNP	ENST00000421025.1	37	c.1156G>A	CCDS47592.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.239099	0.39598	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.01034	5.42;5.42	0.819	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00845	0.0028	N	0.11673	0.155	0.27046	N	0.963905	P	0.36354	0.549	B	0.41036	0.346	T	0.51818	-0.8657	9	0.87932	D	0	.	6.9957	0.24780	0.0:0.0:1.0:0.0	.	386	Q8IYX0	ZN679_HUMAN	N	386	ENSP00000416809:D386N;ENSP00000255746:D386N	ENSP00000255746:D386N	D	+	1	0	ZNF679	63364602	1.000000	0.71417	0.749000	0.31150	0.749000	0.42624	3.900000	0.56295	0.191000	0.20236	0.194000	0.17425	GAC		0.388	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		3	26	0	0	0	1	0	3	26				
LNX2	222484	broad.mit.edu	37	13	28155802	28155802	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:28155802C>G	ENST00000316334.3	-	2	168	c.39G>C	c.(37-39)caG>caC	p.Q13H		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	13					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGGAGGAGGTCTGTTCCACAG	0.423																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(37-39)caG>caC		ligand of numb-protein X 2							155.0	133.0	140.0					13																	28155802		2203	4300	6503	SO:0001583	missense	222484						zinc ion binding	g.chr13:28155802C>G	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.39G>C	13.37:g.28155802C>G	ENSP00000325929:p.Gln13His						p.Q13H	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	2	168	-		Lung SC(185;0.0156)	13					Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.39G>C	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877556	0.33162	.	.	ENSG00000139517	ENST00000316334	T	0.05513	3.43	5.92	5.08	0.68730	.	0.265291	0.39341	N	0.001389	T	0.06325	0.0163	N	0.22421	0.69	0.36046	D	0.840433	B	0.02656	0.0	B	0.01281	0.0	T	0.16276	-1.0408	10	0.72032	D	0.01	.	15.0522	0.71881	0.0:0.9322:0.0:0.0678	.	13	Q8N448	LNX2_HUMAN	H	13	ENSP00000325929:Q13H	ENSP00000325929:Q13H	Q	-	3	2	LNX2	27053802	0.854000	0.29725	0.971000	0.41717	0.839000	0.47603	0.761000	0.26489	1.509000	0.48786	0.655000	0.94253	CAG		0.423	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			32	97	0	0	0	1	0	32	97				
LARS	51520	broad.mit.edu	37	5	145493842	145493842	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:145493842C>T	ENST00000394434.2	-	32	3524	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	LARS_ENST00000545646.1_Missense_Mutation_p.D1074N|LARS_ENST00000274562.9_Missense_Mutation_p.D1093N|LARS_ENST00000510191.1_Missense_Mutation_p.D1066N|RP11-118M9.3_ENST00000514002.1_RNA	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1120					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AACAGTGGATCATCAAATCTC	0.433																																						ENST00000394434.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34						c.(3358-3360)Gat>Aat		leucyl-tRNA synthetase	L-Leucine(DB00149)						51.0	53.0	52.0					5																	145493842		2203	4300	6503	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145493842C>T	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3358G>A	5.37:g.145493842C>T	ENSP00000377954:p.Asp1120Asn					LARS_ENST00000274562.9_Missense_Mutation_p.D1093N|RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000545646.1_Missense_Mutation_p.D1074N|LARS_ENST00000510191.1_Missense_Mutation_p.D1066N	p.D1120N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		32	3524	-			1120					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.3358G>A	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215535	0.95104	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.68765	-0.33;-0.34;-0.32;-0.35	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83248	0.5213	M	0.79805	2.47	0.80722	D	1	D;D;P	0.89917	1.0;0.998;0.873	D;D;P	0.81914	0.977;0.995;0.609	D	0.84709	0.0733	10	0.62326	D	0.03	.	19.0003	0.92830	0.0:1.0:0.0:0.0	.	1093;1074;1120	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	N	1120;1074;429;1066;1093	ENSP00000377954:D1120N;ENSP00000437791:D1074N;ENSP00000426005:D1066N;ENSP00000274562:D1093N	ENSP00000274562:D1093N	D	-	1	0	LARS	145474035	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.339000	0.79282	2.600000	0.87896	0.563000	0.77884	GAT		0.433	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		16	53	0	0	0	1	0	16	53				
FGFBP2	83888	broad.mit.edu	37	4	15964323	15964323	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:15964323C>G	ENST00000259989.6	-	1	536	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	144						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTCCCAGCCTCAGGCTGCTGG	0.607																																						ENST00000259989.6																			0				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(430-432)Gag>Cag		fibroblast growth factor binding protein 2							82.0	77.0	79.0					4																	15964323		2203	4300	6503	SO:0001583	missense	83888					extracellular space	growth factor binding	g.chr4:15964323C>G	AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.430G>C	4.37:g.15964323C>G	ENSP00000259989:p.Glu144Gln					FGFBP2_ENST00000509331.1_Intron	p.E144Q	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN			1	536	-			144						Missense_Mutation	SNP	ENST00000259989.6	37	c.430G>C	CCDS3419.1	.	.	.	.	.	.	.	.	.	.	C	9.810	1.182830	0.21870	.	.	ENSG00000137441	ENST00000259989	T	0.14391	2.51	2.98	0.988	0.19796	.	0.828001	0.10107	N	0.715182	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	B	0.22346	0.068	B	0.19666	0.026	T	0.42413	-0.9453	10	0.27785	T	0.31	-1.965	5.7353	0.18063	0.0:0.5803:0.2999:0.1198	.	144	Q9BYJ0	FGFP2_HUMAN	Q	144	ENSP00000259989:E144Q	ENSP00000259989:E144Q	E	-	1	0	FGFBP2	15573421	0.328000	0.24687	0.002000	0.10522	0.008000	0.06430	0.472000	0.22116	-0.364000	0.08088	-0.145000	0.13849	GAG		0.607	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250324.1	NM_031950		23	103	0	0	0	1	0	23	103				
GRM8	2918	broad.mit.edu	37	7	126173421	126173421	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:126173421C>T	ENST00000339582.2	-	9	2823	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	GRM8_ENST00000444921.2_Missense_Mutation_p.R672H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R672H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	672					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)				TCGGTGGATACGGTTTGTTTT	0.493										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.(2014-2016)cGt>cAt		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						94.0	87.0	89.0					7																	126173421		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173421C>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.2015G>A	7.37:g.126173421C>T	ENSP00000344173:p.Arg672His	HNSCC(24;0.065)				GRM8_ENST00000358373.3_Missense_Mutation_p.R672H|GRM8_ENST00000444921.2_Missense_Mutation_p.R672H|GRM8_ENST00000480995.1_5'UTR	p.R672H			O00222	GRM8_HUMAN			9	2823	-		Prostate(267;0.186)	672					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2015G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.748426	0.89753	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.90563	-2.69;-2.69;-2.69	5.75	5.75	0.90469	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96654	0.8908	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.97137	0.9822	10	0.87932	D	0	.	18.9383	0.92595	0.0:1.0:0.0:0.0	.	672;672	O00222-2;O00222	.;GRM8_HUMAN	H	672	ENSP00000344173:R672H;ENSP00000409790:R672H;ENSP00000351142:R672H	ENSP00000344173:R672H	R	-	2	0	GRM8	125960657	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	CGT		0.493	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			21	87	0	0	0	1	0	21	87				
ZFHX4	79776	broad.mit.edu	37	8	77617634	77617634	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:77617634G>C	ENST00000521891.2	+	2	1759	c.1311G>C	c.(1309-1311)gaG>gaC	p.E437D	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E437D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E437D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E437D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGATGTCAGAGAGCAAAGACC	0.498										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1309-1311)gaG>gaC		zinc finger homeobox 4							55.0	54.0	54.0					8																	77617634		1985	4177	6162	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617634G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1311G>C	8.37:g.77617634G>C	ENSP00000430497:p.Glu437Asp	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.E437D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E437D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E437D	p.E437D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1759	+			437					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1311G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	6.747	0.506703	0.12883	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55052	0.54;0.59;0.57;0.55	5.5	4.62	0.57501	.	0.148787	0.30437	N	0.009636	T	0.38746	0.1052	L	0.29908	0.895	0.36283	D	0.855897	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.09377	0.002;0.003;0.004;0.001	T	0.41627	-0.9498	10	0.45353	T	0.12	.	9.2241	0.37395	0.0742:0.3042:0.6216:0.0	.	437;437;437;437	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	D	437	ENSP00000430497:E437D;ENSP00000399605:E437D;ENSP00000050961:E437D;ENSP00000430848:E437D	ENSP00000050961:E437D	E	+	3	2	ZFHX4	77780189	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.699000	0.47077	1.525000	0.49052	0.655000	0.94253	GAG		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	25	0	0	0	1	0	10	25				
SEMA4D	10507	broad.mit.edu	37	9	92003690	92003690	+	Missense_Mutation	SNP	G	G	A	rs372587621		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:92003690G>A	ENST00000450295.1	-	11	1744	c.968C>T	c.(967-969)tCg>tTg	p.S323L	SEMA4D_ENST00000422704.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S323L|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S323L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S323L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S323L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	323	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GCACACTGCCGACAGCCCCAC	0.627																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(967-969)tCg>tTg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D		G	LEU/SER,LEU/SER	0,4406		0,0,2203	72.0	61.0	65.0		968,968	5.0	1.0	9		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SEMA4D	NM_001142287.1,NM_006378.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	323/739,323/863	92003690	1,13005	2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92003690G>A	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.968C>T	9.37:g.92003690G>A	ENSP00000416523:p.Ser323Leu					SEMA4D_ENST00000422704.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S323L|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S323L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S323L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S323L|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S323L	p.S323L			Q92854	SEM4D_HUMAN			11	1744	-			323			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.968C>T	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095296	0.94197	0.0	1.16E-4	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	T	0.77316	-0.2633	10	0.87932	D	0	.	18.396	0.90499	0.0:0.0:1.0:0.0	.	323;323	Q92854-2;Q92854	.;SEM4D_HUMAN	L	323	ENSP00000344923:S323L;ENSP00000391733:S323L;ENSP00000411981:S323L;ENSP00000343418:S323L;ENSP00000416523:S323L;ENSP00000405102:S323L;ENSP00000348822:S323L;ENSP00000388768:S323L	ENSP00000344923:S323L	S	-	2	0	SEMA4D	91193510	1.000000	0.71417	0.962000	0.40283	0.907000	0.53573	7.308000	0.78929	2.564000	0.86499	0.561000	0.74099	TCG		0.627	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		8	34	0	0	0	1	0	8	34				
SPHKAP	80309	broad.mit.edu	37	2	228890197	228890197	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:228890197C>G	ENST00000392056.3	-	5	400	c.354G>C	c.(352-354)atG>atC	p.M118I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M118I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	118						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)		GTTGGACATTCATGGAACTGA	0.358																																						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.(352-354)atG>atC		SPHK1 interactor, AKAP domain containing							123.0	119.0	120.0					2																	228890197		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228890197C>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.354G>C	2.37:g.228890197C>G	ENSP00000375909:p.Met118Ile					SPHKAP_ENST00000344657.5_Missense_Mutation_p.M118I	p.M118I	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)	5	400	-		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)	118					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.354G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268880	0.59540	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11821	2.74;2.74	6.17	6.17	0.99709	.	0.176921	0.64402	D	0.000008	T	0.09774	0.0240	N	0.14661	0.345	0.38071	D	0.936376	P;P	0.43231	0.675;0.801	B;B	0.40506	0.091;0.331	T	0.17379	-1.0371	10	0.39692	T	0.17	.	13.0796	0.59107	0.0:0.9277:0.0:0.0723	.	118;118	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	118	ENSP00000375909:M118I;ENSP00000339886:M118I	ENSP00000339886:M118I	M	-	3	0	SPHKAP	228598441	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.091000	0.50199	2.941000	0.99782	0.655000	0.94253	ATG		0.358	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		24	96	0	0	0	1	0	24	96				
RICTOR	253260	broad.mit.edu	37	5	38991175	38991175	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:38991175C>T	ENST00000357387.3	-	7	489	c.459G>A	c.(457-459)atG>atA	p.M153I	RICTOR_ENST00000296782.5_Missense_Mutation_p.M153I	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCACAGTAATCATCTGTAACA	0.348																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(457-459)atG>atA		RPTOR independent companion of MTOR, complex 2							87.0	78.0	81.0					5																	38991175		2203	4300	6503	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38991175C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.459G>A	5.37:g.38991175C>T	ENSP00000349959:p.Met153Ile					RICTOR_ENST00000296782.5_Missense_Mutation_p.M153I	p.M153I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			7	489	-	all_lung(31;0.000396)		153						Missense_Mutation	SNP	ENST00000357387.3	37	c.459G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	7.322	0.617192	0.14129	.	.	ENSG00000164327	ENST00000357387;ENST00000296782;ENST00000514735	T;T;T	0.60424	0.19;0.19;0.19	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.038865	0.85682	D	0.000000	T	0.49338	0.1551	L	0.27053	0.805	0.58432	D	0.999999	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.12156	0.001;0.002;0.007;0.002	T	0.39820	-0.9595	10	0.49607	T	0.09	-15.7475	19.3939	0.94598	0.0:1.0:0.0:0.0	.	153;153;153;153	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	I	153;153;137	ENSP00000349959:M153I;ENSP00000296782:M153I;ENSP00000423162:M137I	ENSP00000296782:M153I	M	-	3	0	RICTOR	39026932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.712000	0.54875	2.583000	0.87209	0.579000	0.79373	ATG		0.348	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		22	76	0	0	0	1	0	22	76				
SHF	90525	broad.mit.edu	37	15	45464441	45464441	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:45464441G>A	ENST00000290894.8	-	6	1363	c.869C>T	c.(868-870)tCt>tTt	p.S290F	SHF_ENST00000318390.6_Missense_Mutation_p.S300F|SHF_ENST00000561091.1_5'Flank|SHF_ENST00000560734.1_Intron|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560471.1_Missense_Mutation_p.S355F|SHF_ENST00000458022.2_Missense_Mutation_p.S106F|SHF_ENST00000560540.1_Missense_Mutation_p.S308F	NM_138356.2	NP_612365			Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GTTCCCTGCAGAGAGTCGGGG	0.607																																						ENST00000290894.8																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12						c.(868-870)tCt>tTt		Src homology 2 domain containing F							50.0	57.0	55.0					15																	45464441		2198	4298	6496	SO:0001583	missense	90525							g.chr15:45464441G>A	BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000290894.8:c.869C>T	15.37:g.45464441G>A	ENSP00000290894:p.Ser290Phe					SHF_ENST00000458022.2_Missense_Mutation_p.S106F|SHF_ENST00000560471.1_Missense_Mutation_p.S355F|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000318390.6_Missense_Mutation_p.S300F|SHF_ENST00000560540.1_Missense_Mutation_p.S308F|SHF_ENST00000560734.1_Intron	p.S290F	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)	6	1363	-		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	290						Missense_Mutation	SNP	ENST00000290894.8	37	c.869C>T	CCDS10120.2	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776168	0.70107	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390;ENST00000458022;ENST00000413198	T;T;T	0.35236	1.32;1.32;1.32	3.38	3.38	0.38709	.	0.255174	0.40144	N	0.001172	T	0.41650	0.1168	L	0.29908	0.895	0.58432	D	0.999991	D;P;D;P	0.60160	0.967;0.604;0.987;0.944	P;P;P;P	0.59761	0.73;0.519;0.863;0.492	T	0.38628	-0.9652	10	0.59425	D	0.04	-3.764	12.6355	0.56681	0.0:0.0:1.0:0.0	.	153;233;300;290	Q8N9I8;E7EWB7;F8W6K9;Q7M4L6	.;.;.;SHF_HUMAN	F	290;290;300;106;233	ENSP00000290894:S290F;ENSP00000315978:S300F;ENSP00000411530:S106F	ENSP00000290894:S290F	S	-	2	0	SHF	43251733	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.089000	0.64492	1.904000	0.55121	0.563000	0.77884	TCT		0.607	SHF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254141.2	NM_138356		16	50	0	0	0	1	0	16	50				
SGSM1	129049	broad.mit.edu	37	22	25294145	25294145	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:25294145G>C	ENST00000400359.4	+	20	2401	c.2394G>C	c.(2392-2394)cgG>cgC	p.R798R	SNORD56_ENST00000362913.1_RNA|SGSM1_ENST00000400358.4_Silent_p.R743R	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	798	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACGCCCAGCGGAACACCCCCA	0.627																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(2227-2229)cgG>cgC		small G protein signaling modulator 1							56.0	69.0	65.0					22																	25294145		2131	4250	6381	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25294145G>C	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2394G>C	22.37:g.25294145G>C						SGSM1_ENST00000400359.4_Silent_p.R798R	p.R743R	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			19	2286	+			798			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.2229G>C	CCDS46674.1																																																																																				0.627	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		8	48	0	0	0	1	0	8	48				
LIMK2	3985	broad.mit.edu	37	22	31674305	31674305	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:31674305G>A	ENST00000331728.4	+	16	1909	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000444929.2_Missense_Mutation_p.D353N|LIMK2_ENST00000333611.4_Missense_Mutation_p.D578N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAAATTGGAGGACTCCTTTGA	0.572																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1795-1797)Gac>Aac		LIM domain kinase 2							230.0	243.0	238.0					22																	31674305		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31674305G>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1795G>A	22.37:g.31674305G>A	ENSP00000332687:p.Asp599Asn					LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000333611.4_Missense_Mutation_p.D578N|LIMK2_ENST00000444929.2_Missense_Mutation_p.D353N	p.D599N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			16	1909	+			599			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1795G>A	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	16.62	3.173512	0.57584	.	.	ENSG00000182541	ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611	D;D;D	0.82433	-1.61;-1.61;-1.61	5.37	5.37	0.77165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.76328	0.3972	L	0.29908	0.895	0.58432	D	0.999997	B;B;B	0.24963	0.094;0.115;0.115	B;B;B	0.30179	0.112;0.106;0.106	T	0.70666	-0.4809	9	0.15499	T	0.54	.	18.0911	0.89476	0.0:0.0:1.0:0.0	.	631;353;599	F5GY29;E7EUC1;P53671	.;.;LIMK2_HUMAN	N	353;599;631;578	ENSP00000409522:D353N;ENSP00000332687:D599N;ENSP00000330470:D578N	ENSP00000332687:D599N	D	+	1	0	LIMK2	30004305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.238000	0.95380	2.501000	0.84356	0.563000	0.77884	GAC		0.572	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		6	345	0	0	0	1	0	6	345				
TMCC1	23023	broad.mit.edu	37	3	129370616	129370616	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:129370616G>A	ENST00000393238.3	-	6	2010	c.1670C>T	c.(1669-1671)aCg>aTg	p.T557M	TMCC1_ENST00000329333.5_Missense_Mutation_p.T378M|TMCC1_ENST00000426664.2_Missense_Mutation_p.T443M|TMCC1_ENST00000432054.2_Missense_Mutation_p.T233M	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	557						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGAGATGCGCGTCTGGCATGC	0.592																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1669-1671)aCg>aTg		transmembrane and coiled-coil domain family 1							61.0	61.0	61.0					3																	129370616		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370616G>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1670C>T	3.37:g.129370616G>A	ENSP00000376930:p.Thr557Met					TMCC1_ENST00000426664.2_Missense_Mutation_p.T443M|TMCC1_ENST00000329333.5_Missense_Mutation_p.T378M|TMCC1_ENST00000432054.2_Missense_Mutation_p.T233M	p.T557M	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2010	-			557					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1670C>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294668	0.60086	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.78149	0.4238	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.82343	-0.0504	10	0.87932	D	0	-15.9015	18.8307	0.92137	0.0:0.0:1.0:0.0	.	378;557	B4DE04;O94876	.;TMCC1_HUMAN	M	233;557;443;378	ENSP00000404711:T233M;ENSP00000376930:T557M;ENSP00000389892:T443M;ENSP00000327349:T378M	ENSP00000327349:T378M	T	-	2	0	TMCC1	130853306	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.651000	0.98493	2.689000	0.91719	0.655000	0.94253	ACG		0.592	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		13	57	0	0	0	1	0	13	57				
NOTCH4	4855	broad.mit.edu	37	6	32163523	32163523	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:32163523C>G	ENST00000375023.3	-	30	5841	c.5703G>C	c.(5701-5703)tcG>tcC	p.S1901S	GPSM3_ENST00000375040.3_5'Flank|GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000487761.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1901					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCCTACTCCCGAGAGGCTCC	0.677																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(5701-5703)tcG>tcC		notch 4							21.0	26.0	24.0					6																	32163523		1506	2703	4209	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163523C>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5703G>C	6.37:g.32163523C>G						NOTCH4_ENST00000443903.2_3'UTR	p.S1901S	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			30	5841	-			1901					B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.5703G>C	CCDS34420.1																																																																																				0.677	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			8	36	0	0	0	1	0	8	36				
VN1R1	57191	broad.mit.edu	37	19	57967615	57967615	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:57967615C>T	ENST00000321039.3	-	1	239	c.240G>A	c.(238-240)ctG>ctA	p.L80L	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	80					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		CCGTGGGTCTCAGCTTGTGTC	0.428																																						ENST00000321039.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19						c.(238-240)ctG>ctA		vomeronasal 1 receptor 1							45.0	42.0	43.0					19																	57967615		2203	4300	6503	SO:0001819	synonymous_variant	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967615C>T	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.240G>A	19.37:g.57967615C>T						AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	p.L80L	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	239	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	80					B3KSV5|Q7Z5H8|Q7Z5H9	Silent	SNP	ENST00000321039.3	37	c.240G>A	CCDS12951.1																																																																																				0.428	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		11	44	0	0	0	1	0	11	44				
RELN	5649	broad.mit.edu	37	7	103236934	103236934	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:103236934C>T	ENST00000428762.1	-	25	3667	c.3508G>A	c.(3508-3510)Gag>Aag	p.E1170K	RELN_ENST00000424685.2_Missense_Mutation_p.E1170K|RELN_ENST00000343529.5_Missense_Mutation_p.E1170K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1170					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTACATCTCTGCTAGCAGG	0.502																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3508-3510)Gag>Aag		reelin							183.0	167.0	172.0					7																	103236934		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103236934C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3508G>A	7.37:g.103236934C>T	ENSP00000392423:p.Glu1170Lys					RELN_ENST00000343529.5_Missense_Mutation_p.E1170K|RELN_ENST00000428762.1_Missense_Mutation_p.E1170K	p.E1170K			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	25	3667	-			1170					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3508G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	31	5.103601	0.94245	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.44881	1.83;0.91;1.83	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	M	0.80982	2.52	0.54753	D	0.999987	D;D	0.64830	0.994;0.982	D;D	0.67548	0.948;0.952	T	0.70099	-0.4965	10	0.66056	D	0.02	.	20.0758	0.97742	0.0:1.0:0.0:0.0	.	1170;1170	P78509-2;P78509	.;RELN_HUMAN	K	1170	ENSP00000392423:E1170K;ENSP00000345694:E1170K;ENSP00000388446:E1170K	ENSP00000345694:E1170K	E	-	1	0	RELN	103024170	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.270000	0.78493	2.763000	0.94921	0.650000	0.86243	GAG		0.502	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		15	54	0	0	0	1	0	15	54				
KLHL22	84861	broad.mit.edu	37	22	20796566	20796566	+	Missense_Mutation	SNP	C	C	T	rs139279490		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:20796566C>T	ENST00000328879.4	-	7	1855	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	KLHL22_ENST00000440659.2_Missense_Mutation_p.D424N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	567					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTCTCCACATCGTAAATGTGC	0.622																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1699-1701)Gat>Aat		kelch-like family member 22		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	56.0	55.0	55.0		1699	5.7	0.2	22	dbSNP_134	55	0,8600		0,0,4300	no	missense	KLHL22	NM_032775.3	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	567/635	20796566	1,13005	2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20796566C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1699G>A	22.37:g.20796566C>T	ENSP00000331682:p.Asp567Asn					KLHL22_ENST00000440659.2_Missense_Mutation_p.D424N	p.D567N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		7	1855	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	567					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1699G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004037	0.35320	2.27E-4	0.0	ENSG00000099910	ENST00000328879;ENST00000440659	D;D	0.86769	-2.17;-2.17	5.67	5.67	0.87782	Kelch-type beta propeller (1);	0.118903	0.64402	D	0.000010	D	0.82825	0.5121	L	0.47716	1.5	0.48236	D	0.999619	B	0.32396	0.369	B	0.24848	0.056	T	0.80555	-0.1330	10	0.33940	T	0.23	.	17.2701	0.87098	0.0:1.0:0.0:0.0	.	567	Q53GT1	KLH22_HUMAN	N	567;424	ENSP00000331682:D567N;ENSP00000405521:D424N	ENSP00000331682:D567N	D	-	1	0	KLHL22	19126566	0.998000	0.40836	0.248000	0.24265	0.105000	0.19272	3.802000	0.55553	2.687000	0.91594	0.563000	0.77884	GAT		0.622	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		14	40	0	0	0	1	0	14	40				
TRAIP	10293	broad.mit.edu	37	3	49885617	49885617	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:49885617C>G	ENST00000331456.2	-	2	228	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Missense_Mutation_p.E39Q	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	39					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTGCTGTCTCAAACCACTGA	0.512																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(115-117)Gag>Cag		TRAF interacting protein							106.0	87.0	93.0					3																	49885617		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49885617C>G	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.115G>C	3.37:g.49885617C>G	ENSP00000328203:p.Glu39Gln					TRAIP_ENST00000469027.1_Missense_Mutation_p.E39Q|TRAIP_ENST00000473863.1_5'UTR	p.E39Q	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	2	228	-			39					B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.115G>C	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030279	0.35797	.	.	ENSG00000183763	ENST00000331456;ENST00000469027;ENST00000482582;ENST00000482243	T;T;T;T	0.49432	0.78;1.0;1.0;1.0	5.87	4.95	0.65309	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.217440	0.48767	D	0.000179	T	0.31979	0.0814	N	0.16743	0.435	0.25057	N	0.991093	B;B;B	0.30763	0.011;0.294;0.011	B;B;B	0.29942	0.034;0.109;0.023	T	0.16958	-1.0385	10	0.28530	T	0.3	-12.2957	14.2669	0.66123	0.0:0.7323:0.2677:0.0	.	39;39;39	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	Q	39	ENSP00000328203:E39Q;ENSP00000420085:E39Q;ENSP00000418544:E39Q;ENSP00000419350:E39Q	ENSP00000328203:E39Q	E	-	1	0	TRAIP	49860621	1.000000	0.71417	0.971000	0.41717	0.947000	0.59692	4.147000	0.58078	2.780000	0.95670	0.655000	0.94253	GAG		0.512	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		6	21	0	0	0	1	0	6	21				
PCDHB3	56132	broad.mit.edu	37	5	140482100	140482100	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:140482100G>A	ENST00000231130.2	+	1	1867	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	623	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)	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)			GCACAATGGCGAAGTGCGCAC	0.711																																						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.(1867-1869)Gaa>Aaa									31.0	33.0	32.0					5																	140482100		2155	4176	6331	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482100G>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.1867G>A	5.37:g.140482100G>A	ENSP00000231130:p.Glu623Lys						p.E623K	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1867	+			623			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1867G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503192	0.85176	.	.	ENSG00000113205	ENST00000231130	T	0.53206	0.63	4.38	4.38	0.52667	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75079	0.3801	M	0.91038	3.17	0.41412	D	0.987743	D	0.76494	0.999	D	0.76071	0.987	T	0.83105	-0.0126	9	0.87932	D	0	.	16.975	0.86310	0.0:0.0:1.0:0.0	.	623	Q9Y5E6	PCDB3_HUMAN	K	623	ENSP00000231130:E623K	ENSP00000231130:E623K	E	+	1	0	PCDHB3	140462284	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.168000	0.71908	2.143000	0.66587	0.556000	0.70494	GAA		0.711	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		41	95	0	0	0	1	0	41	95				
SMPD1	6609	broad.mit.edu	37	11	6412670	6412670	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:6412670G>A	ENST00000342245.4	+	2	543	c.375G>A	c.(373-375)ctG>ctA	p.L125L	SMPD1_ENST00000299397.3_Silent_p.L125L|SMPD1_ENST00000527275.1_Silent_p.L124L|SMPD1_ENST00000356761.2_Silent_p.L125L|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	123	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	GCAATCTGCTGAAGATAGCAC	0.577																																						ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(373-375)ctG>ctA		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						83.0	66.0	72.0					11																	6412670		2201	4296	6497	SO:0001819	synonymous_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412670G>A	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.375G>A	11.37:g.6412670G>A						SMPD1_ENST00000299397.3_Silent_p.L125L|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Silent_p.L125L|SMPD1_ENST00000527275.1_Silent_p.L124L	p.L125L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	543	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	123			Saposin B-type.		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	ENST00000342245.4	37	c.375G>A	CCDS44531.1																																																																																				0.577	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		10	23	0	0	0	1	0	10	23				
FAM175A	84142	broad.mit.edu	37	4	84383664	84383664	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:84383664C>G	ENST00000321945.7	-	9	1296	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	FAM175A_ENST00000506553.1_Missense_Mutation_p.K347N|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	396					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						AACCCTTCATCTTTTCAATTT	0.358																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(1186-1188)aaG>aaC		family with sequence similarity 175, member A							161.0	164.0	163.0					4																	84383664		2203	4300	6503	SO:0001583	missense	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84383664C>G	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.1188G>C	4.37:g.84383664C>G	ENSP00000369857:p.Lys396Asn					FAM175A_ENST00000506553.1_Missense_Mutation_p.K347N|MRPS18C_ENST00000509571.1_Intron	p.K396N	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			9	1296	-			396					A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	ENST00000321945.7	37	c.1188G>C	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	C	0.813	-0.751308	0.03041	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	T;T	0.46819	0.86;0.86	5.61	1.61	0.23674	.	0.484712	0.24400	N	0.038856	T	0.29556	0.0737	L	0.29908	0.895	0.20307	N	0.999916	B	0.22746	0.074	B	0.23574	0.047	T	0.14952	-1.0454	10	0.25751	T	0.34	-19.5206	5.1977	0.15246	0.0:0.1733:0.29:0.5367	.	396	Q6UWZ7	F175A_HUMAN	N	396;347	ENSP00000369857:K396N;ENSP00000426763:K347N	ENSP00000369857:K396N	K	-	3	2	FAM175A	84602688	0.010000	0.17322	0.030000	0.17652	0.025000	0.11179	0.057000	0.14279	0.041000	0.15688	-0.365000	0.07479	AAG		0.358	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		53	184	0	0	0	1	0	53	184				
DRD3	1814	broad.mit.edu	37	3	113850160	113850160	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:113850160C>T	ENST00000460779.1	-	7	1100	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	DRD3_ENST00000383673.2_Missense_Mutation_p.E271K|DRD3_ENST00000295881.7_Missense_Mutation_p.E271K|DRD3_ENST00000467632.1_Missense_Mutation_p.E271K	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	271					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCTCCTCTTTCTTGGAAGCCT	0.542																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(811-813)Gaa>Aaa		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						152.0	158.0	156.0					3																	113850160		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850160C>T		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.811G>A	3.37:g.113850160C>T	ENSP00000419402:p.Glu271Lys					DRD3_ENST00000467632.1_Missense_Mutation_p.E271K|DRD3_ENST00000295881.7_Missense_Mutation_p.E271K|DRD3_ENST00000460779.1_Missense_Mutation_p.E271K	p.E271K	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			6	1241	-			271					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.811G>A	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488903	0.44249	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.58	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.617134	0.15931	N	0.237672	T	0.61924	0.2386	L	0.28344	0.845	0.28201	N	0.927346	P;P;P;B	0.38535	0.635;0.635;0.635;0.101	P;P;P;B	0.46389	0.515;0.493;0.493;0.148	T	0.52155	-0.8613	10	0.06365	T	0.9	.	11.8793	0.52564	0.2149:0.7851:0.0:0.0	.	271;271;271;271	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	K	271	ENSP00000419402:E271K;ENSP00000420662:E271K;ENSP00000373169:E271K;ENSP00000295881:E271K	ENSP00000281274:E271K	E	-	1	0	DRD3	115332850	0.378000	0.25114	0.993000	0.49108	0.750000	0.42670	0.580000	0.23803	2.866000	0.98385	0.650000	0.86243	GAA		0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		29	176	0	0	0	1	0	29	176				
HOXB7	3217	broad.mit.edu	37	17	46688041	46688041	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:46688041G>C	ENST00000239165.7	-	1	338	c.240C>G	c.(238-240)ctC>ctG	p.L80L	HOXB7_ENST00000567101.2_Intron	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	80					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						AACTCGGCTCGAGCCCATAGC	0.721																																						ENST00000239165.7																			0				NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						c.(238-240)ctC>ctG		homeobox B7																																				SO:0001819	synonymous_variant	3217					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46688041G>C		CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	5118	protein-coding gene	gene with protein product		142962	"""homeo box B7"""	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.240C>G	17.37:g.46688041G>C						HOXB7_ENST00000567101.1_Intron	p.L80L	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN			1	338	-			80					A8K3N8|Q15957|Q53FN3|Q96BQ6	Silent	SNP	ENST00000239165.7	37	c.240C>G	CCDS11532.1																																																																																				0.721	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3			5	10	0	0	0	1	0	5	10				
HEATR6	63897	broad.mit.edu	37	17	58121317	58121317	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:58121317C>A	ENST00000184956.6	-	20	3169	c.3153G>T	c.(3151-3153)caG>caT	p.Q1051H	AC005702.3_ENST00000582298.1_RNA|AC005702.4_ENST00000583144.1_RNA|HEATR6_ENST00000585976.1_Missense_Mutation_p.Q939H|AC005702.1_ENST00000581326.1_RNA|MIR4737_ENST00000583979.1_RNA|AC005702.2_ENST00000577558.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1051							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CTTCACTCTTCTGTAAAGCGG	0.517																																						ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(3151-3153)caG>caT		HEAT repeat containing 6							139.0	136.0	137.0					17																	58121317		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58121317C>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3153G>T	17.37:g.58121317C>A	ENSP00000184956:p.Gln1051His					HEATR6_ENST00000585976.1_Missense_Mutation_p.Q939H	p.Q1051H	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		20	3169	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1051					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.3153G>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025125	0.54683	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.67345	-0.26	5.15	1.91	0.25777	Armadillo-like helical (1);Armadillo-type fold (1);	0.061490	0.64402	D	0.000002	T	0.69655	0.3135	L	0.59436	1.845	0.24266	N	0.995267	D;D	0.69078	0.981;0.997	P;P	0.59012	0.843;0.85	T	0.60291	-0.7292	10	0.72032	D	0.01	-3.7974	5.2827	0.15684	0.0:0.6058:0.1463:0.2479	.	786;1051	E7ESB9;Q6AI08	.;HEAT6_HUMAN	H	1051;786	ENSP00000184956:Q1051H	ENSP00000184956:Q1051H	Q	-	3	2	HEATR6	55476099	0.994000	0.37717	0.999000	0.59377	0.783000	0.44284	0.433000	0.21477	0.231000	0.21079	-0.145000	0.13849	CAG		0.517	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		43	138	1	0	1.57945e-13	1	1.67877e-13	43	138				
MBD3	53615	broad.mit.edu	37	19	1582649	1582649	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:1582649C>T	ENST00000434436.3	-	4	600	c.471G>A	c.(469-471)aaG>aaA	p.K157K	MBD3_ENST00000156825.1_Silent_p.K157K|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000590550.2_Silent_p.K101K|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Silent_p.K125K	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	157					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCATGGTCTTGACCAGCT	0.632																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(301-303)aaG>aaA		methyl-CpG binding domain protein 3							66.0	53.0	58.0					19																	1582649		2203	4300	6503	SO:0001819	synonymous_variant	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1582649C>T	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.471G>A	19.37:g.1582649C>T						MBD3_ENST00000592012.1_Silent_p.K125K|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000156825.1_Silent_p.K157K|MBD3_ENST00000434436.3_Silent_p.K157K	p.K101K			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	3	676	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	157					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	ENST00000434436.3	37	c.303G>A	CCDS12072.1																																																																																				0.632	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		6	28	0	0	0	1	0	6	28				
NEDD1	121441	broad.mit.edu	37	12	97330420	97330420	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:97330420C>G	ENST00000266742.4	+	8	1090	c.751C>G	c.(751-753)Cta>Gta	p.L251V	NEDD1_ENST00000557644.1_Missense_Mutation_p.L258V|NEDD1_ENST00000429527.2_Missense_Mutation_p.L251V|NEDD1_ENST00000411739.2_Missense_Mutation_p.L162V|NEDD1_ENST00000457368.2_Missense_Mutation_p.L162V|NEDD1_ENST00000555114.1_3'UTR	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	251					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TGACACTCCTCTAACTGCGGT	0.378																																						ENST00000266742.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.(751-753)Cta>Gta		neural precursor cell expressed, developmentally down-regulated 1							60.0	58.0	59.0					12																	97330420		2203	4299	6502	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97330420C>G		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.751C>G	12.37:g.97330420C>G	ENSP00000266742:p.Leu251Val					NEDD1_ENST00000429527.2_Missense_Mutation_p.L251V|NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000557644.1_Missense_Mutation_p.L258V|NEDD1_ENST00000457368.2_Missense_Mutation_p.L162V|NEDD1_ENST00000411739.2_Missense_Mutation_p.L162V	p.L251V	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN			8	1090	+			251					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.751C>G	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583412	0.65992	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.22743	2.0;2.0;1.94;2.0;1.94	5.59	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	N	0.17901	0.54	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.994	T	0.03017	-1.1082	10	0.06494	T	0.89	.	14.4395	0.67306	0.0:0.9291:0.0:0.0709	.	258;251	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	V	251;251;162;258;162	ENSP00000266742:L251V;ENSP00000404978:L251V;ENSP00000411307:L162V;ENSP00000451211:L258V;ENSP00000407964:L162V	ENSP00000266742:L251V	L	+	1	2	NEDD1	95854551	1.000000	0.71417	0.979000	0.43373	0.468000	0.32798	5.733000	0.68571	1.362000	0.46000	-0.229000	0.12294	CTA		0.378	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			13	60	0	0	0	1	0	13	60				
SPPL2B	56928	broad.mit.edu	37	19	2340962	2340962	+	RNA	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:2340962C>G	ENST00000452401.2	+	0	983							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGGCGCTCTTCTGCGTGG	0.697																																						ENST00000452401.2																			0													signal peptide peptidase like 2B							47.0	57.0	54.0					19																	2340962		2196	4296	6492			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2340962C>G		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2340962C>G						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	983	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	ENST00000452401.2	37																																																																																						0.697	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		13	40	0	0	0	1	0	13	40				
NOTCH2NL	388677	broad.mit.edu	37	1	145273251	145273251	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:145273251G>A	ENST00000369340.3	+	4	549	c.105G>A	c.(103-105)caG>caA	p.Q35Q	NOTCH2NL_ENST00000362074.6_Silent_p.Q35Q|NOTCH2NL_ENST00000344859.3_Silent_p.Q35Q|RP11-458D21.5_ENST00000468030.1_Silent_p.Q35Q			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	35	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ACCGCTGCCAGAATGGTGGGA	0.532																																						ENST00000369340.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(103-105)caG>caA		notch 2 N-terminal like							84.0	87.0	86.0					1																	145273251		2202	4278	6480	SO:0001819	synonymous_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273251G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.105G>A	1.37:g.145273251G>A						NOTCH2NL_ENST00000344859.3_Silent_p.Q35Q|RP11-458D21.5_ENST00000468030.1_Silent_p.Q35Q|NOTCH2NL_ENST00000362074.6_Silent_p.Q35Q	p.Q35Q			Q7Z3S9	NT2NL_HUMAN			4	549	+			35			EGF-like 2.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	c.105G>A	CCDS909.1																																																																																				0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		12	160	0	0	0	1	0	12	160				
TNS4	84951	broad.mit.edu	37	17	38638442	38638442	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:38638442G>A	ENST00000254051.6	-	8	1769	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	537	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTGGCACACGAAGGCAGAGA	0.622																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1609-1611)ttC>ttT		tensin 4							57.0	52.0	54.0					17																	38638442		2203	4300	6503	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38638442G>A	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1611C>T	17.37:g.38638442G>A							p.F537F	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		8	1769	-		Breast(137;0.000496)	537			SH2.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.1611C>T	CCDS11368.1																																																																																				0.622	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		6	32	0	0	0	1	0	6	32				
METTL2A	339175	broad.mit.edu	37	17	60525120	60525120	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:60525120C>T	ENST00000311506.5	+	8	1011	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	325					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TTTACTTCTTCACACAAGGTA	0.423																																						ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(973-975)ttC>ttT		methyltransferase like 2A							259.0	262.0	261.0					17																	60525120		2203	4300	6503	SO:0001819	synonymous_variant	339175						methyltransferase activity	g.chr17:60525120C>T	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.975C>T	17.37:g.60525120C>T							p.F325F	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		8	1011	+			325					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP	ENST00000311506.5	37	c.975C>T	CCDS45752.1																																																																																				0.423	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		55	211	0	0	0	1	0	55	211				
HSD17B7P2	158160	broad.mit.edu	37	10	38654457	38654457	+	RNA	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:38654457C>T	ENST00000494540.1	+	0	624					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		ATTTCAGCCTCGAGGACTTCC	0.493																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654457C>T			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654457C>T								NR_003086.1						0	624	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.493	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		19	44	0	0	0	1	0	19	44				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	80	0	0	0	1	0	6	80				
DCST1	149095	broad.mit.edu	37	1	155018687	155018687	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:155018687G>A	ENST00000295542.1	+	12	1455	c.1359G>A	c.(1357-1359)atG>atA	p.M453I	DCST1_ENST00000423025.2_Missense_Mutation_p.M428I|DCST1_ENST00000392480.1_Missense_Mutation_p.M453I|DCST1_ENST00000368419.2_Missense_Mutation_p.M453I|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	453						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTCAGAAATGAGCAATGTGG	0.567																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(1357-1359)atG>atA		DC-STAMP domain containing 1							87.0	88.0	88.0					1																	155018687		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155018687G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1359G>A	1.37:g.155018687G>A	ENSP00000295542:p.Met453Ile					DCST1_ENST00000368419.2_Missense_Mutation_p.M453I|DCST1_ENST00000423025.2_Missense_Mutation_p.M428I|DCST1_ENST00000392480.1_Missense_Mutation_p.M453I	p.M453I	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		12	1455	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		453					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.1359G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265655	0.59431	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.12	4.2	0.49525	Dendritic cell-specific transmembrane protein-like (1);	0.112144	0.64402	D	0.000014	T	0.10423	0.0255	L	0.54323	1.7	0.23598	N	0.997322	P;P;P	0.44521	0.837;0.695;0.837	B;B;B	0.37601	0.254;0.248;0.254	T	0.09185	-1.0686	10	0.21540	T	0.41	-38.2754	7.8061	0.29202	0.1825:0.0:0.8175:0.0	.	428;478;453	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	I	453;453;428;453	ENSP00000295542:M453I;ENSP00000376271:M453I;ENSP00000387369:M428I;ENSP00000357404:M453I	ENSP00000295542:M453I	M	+	3	0	DCST1	153285311	0.788000	0.28762	0.442000	0.26870	0.787000	0.44495	1.750000	0.38329	1.390000	0.46547	0.655000	0.94253	ATG		0.567	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		9	58	0	0	0	1	0	9	58				
PRR27	401137	broad.mit.edu	37	4	71024498	71024498	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:71024498G>A	ENST00000344526.5	+	3	718	c.529G>A	c.(529-531)Gag>Aag	p.E177K	C4orf40_ENST00000502294.1_Missense_Mutation_p.E177K	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		177	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGTTGCAGCTGAGCCTGCTGC	0.637																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(529-531)Gag>Aag		chromosome 4 open reading frame 40							40.0	38.0	39.0					4																	71024498		2203	4299	6502	SO:0001583	missense	401137					extracellular region		g.chr4:71024498G>A																												ENST00000344526.5:c.529G>A	4.37:g.71024498G>A	ENSP00000343172:p.Glu177Lys					C4orf40_ENST00000502294.1_Missense_Mutation_p.E177K	p.E177K	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	718	+			177			Ala-rich.		A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.529G>A	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716916	0.30413	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.30714	1.52;1.52	4.52	-9.03	0.00737	.	.	.	.	.	T	0.12646	0.0307	N	0.14661	0.345	0.09310	N	1	B	0.33044	0.395	B	0.33042	0.157	T	0.26780	-1.0093	9	0.51188	T	0.08	1.8408	3.8297	0.08868	0.2599:0.3762:0.2775:0.0864	.	177	Q6MZM9	CD040_HUMAN	K	177	ENSP00000426249:E177K;ENSP00000343172:E177K	ENSP00000343172:E177K	E	+	1	0	C4orf40	71059087	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-1.003000	0.03682	-1.742000	0.01342	0.514000	0.50259	GAG		0.637	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			17	42	0	0	0	1	0	17	42				
GDPGP1	390637	broad.mit.edu	37	15	90784881	90784881	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:90784881C>T	ENST00000558017.1	+	4	1161	c.741C>T	c.(739-741)ctC>ctT	p.L247L	GDPGP1_ENST00000329600.6_Silent_p.L247L	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	247					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										TGCATCTGCTCCAGGACCTCC	0.597																																						ENST00000558017.1																			0											c.(739-741)ctC>ctT		GDP-D-glucose phosphorylase 1							53.0	47.0	49.0					15																	90784881		2199	4298	6497	SO:0001819	synonymous_variant	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784881C>T		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.741C>T	15.37:g.90784881C>T						GDPGP1_ENST00000329600.6_Silent_p.L247L	p.L247L	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	1161	+			247						Silent	SNP	ENST00000558017.1	37	c.741C>T	CCDS32327.1																																																																																				0.597	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		17	63	0	0	0	1	0	17	63				
ANK2	287	broad.mit.edu	37	4	114158255	114158255	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:114158255C>T	ENST00000357077.4	+	6	649	c.596C>T	c.(595-597)gCc>gTc	p.A199V	ANK2_ENST00000394537.3_Missense_Mutation_p.A199V|ANK2_ENST00000506722.1_Missense_Mutation_p.A178V|ANK2_ENST00000264366.6_Missense_Mutation_p.A199V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	199					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)		CTGCATATTGCCGCTAGGAAA	0.512																																						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.(595-597)gCc>gTc		ankyrin 2, neuronal							187.0	174.0	179.0					4																	114158255		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114158255C>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.596C>T	4.37:g.114158255C>T	ENSP00000349588:p.Ala199Val					ANK2_ENST00000264366.6_Missense_Mutation_p.A199V|ANK2_ENST00000394537.3_Missense_Mutation_p.A199V|ANK2_ENST00000506722.1_Missense_Mutation_p.A178V	p.A199V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	6	649	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	199					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.596C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	35	5.474212	0.96291	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000515034	T;T;T;T;T;D;D;T	0.87256	0.96;-0.92;-0.92;-0.92;-0.92;-2.23;-2.23;0.5	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.51477	D	0.000096	D	0.92678	0.7673	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.91635	0.998;0.992;0.999;0.999;0.994	D	0.92798	0.6254	10	0.87932	D	0	.	19.9024	0.96993	0.0:1.0:0.0:0.0	.	199;199;199;178;178	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	V	178;178;178;214;199;199;199;178;64	ENSP00000423799:A178V;ENSP00000421011:A178V;ENSP00000421067:A178V;ENSP00000424722:A214V;ENSP00000378044:A199V;ENSP00000349588:A199V;ENSP00000264366:A199V;ENSP00000421059:A64V	ENSP00000264366:A199V	A	+	2	0	ANK2	114377704	1.000000	0.71417	0.808000	0.32385	0.707000	0.40811	7.776000	0.85560	2.775000	0.95449	0.650000	0.86243	GCC		0.512	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		4	151	0	0	0	1	0	4	151				
PCDH17	27253	broad.mit.edu	37	13	58209159	58209159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr13:58209159C>T	ENST00000377918.3	+	1	2505	c.2479C>T	c.(2479-2481)Cag>Tag	p.Q827*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	827					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACTGTCCCTCAGGGGCACGC	0.597																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2479-2481)Cag>Tag		protocadherin 17							32.0	33.0	33.0					13																	58209159		2203	4300	6503	SO:0001587	stop_gained	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58209159C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2479C>T	13.37:g.58209159C>T	ENSP00000367151:p.Gln827*						p.Q827*	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2505	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	827					A8K1R5|Q5VVW9|Q5VVX0	Nonsense_Mutation	SNP	ENST00000377918.3	37	c.2479C>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	47	13.273629	0.99731	.	.	ENSG00000118946	ENST00000377918	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.222	0.98326	0.0:1.0:0.0:0.0	.	.	.	.	X	827	.	.	Q	+	1	0	PCDH17	57107160	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	7.487000	0.81328	2.786000	0.95864	0.591000	0.81541	CAG		0.597	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		9	21	0	0	0	1	0	9	21				
SPTAN1	6709	broad.mit.edu	37	9	131339775	131339775	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:131339775G>A	ENST00000372731.4	+	8	1185	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	SPTAN1_ENST00000358161.5_Missense_Mutation_p.D359N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D359N	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	359					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACGGCTCAATGATTCATACAG	0.468																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(1075-1077)Gat>Aat		spectrin, alpha, non-erythrocytic 1							77.0	73.0	74.0					9																	131339775		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131339775G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1075G>A	9.37:g.131339775G>A	ENSP00000361816:p.Asp359Asn					SPTAN1_ENST00000372731.4_Missense_Mutation_p.D359N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D359N	p.D359N	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			8	1185	+			359					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.1075G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942745	0.73672	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.52057	0.68;0.69;0.69	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	L	0.60455	1.87	0.80722	D	1	P;D;B;D;P	0.58970	0.521;0.984;0.43;0.976;0.637	B;P;B;P;B	0.56343	0.247;0.796;0.216;0.541;0.144	T	0.60094	-0.7330	10	0.52906	T	0.07	.	19.545	0.95291	0.0:0.0:1.0:0.0	.	359;359;359;359;359	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	N	359	ENSP00000350882:D359N;ENSP00000361816:D359N;ENSP00000361824:D359N	ENSP00000350882:D359N	D	+	1	0	SPTAN1	130379596	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAT		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		24	66	0	0	0	1	0	24	66				
FUT11	170384	broad.mit.edu	37	10	75535419	75535419	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:75535419C>T	ENST00000372841.3	+	3	1498	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	RMRPP1_ENST00000517236.1_RNA	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	485					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TACATGAAATCTTCATGAAGA	0.453																																						ENST00000372841.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						c.(1453-1455)atC>atT		fucosyltransferase 11 (alpha (1,3) fucosyltransferase)							110.0	99.0	103.0					10																	75535419		2203	4300	6503	SO:0001819	synonymous_variant	170384				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr10:75535419C>T	BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1455C>T	10.37:g.75535419C>T							p.I485I	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN			3	1498	+	Prostate(51;0.0112)		485					Q495W7|Q8IYE4	Silent	SNP	ENST00000372841.3	37	c.1455C>T	CCDS7333.1																																																																																				0.453	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		20	69	0	0	0	1	0	20	69				
COBL	23242	broad.mit.edu	37	7	51251897	51251897	+	Splice_Site	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:51251897C>T	ENST00000265136.7	-	5	851		c.e5-1		COBL_ENST00000441453.1_Splice_Site|COBL_ENST00000395542.2_Splice_Site|COBL_ENST00000395540.2_Splice_Site	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein						actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTAAAGGTTTCTGGAAAAAAA	0.279																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.e5-1		cordon-bleu WH2 repeat protein							24.0	23.0	24.0					7																	51251897		2189	4264	6453	SO:0001630	splice_region_variant	23242							g.chr7:51251897C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.686-1G>A	7.37:g.51251897C>T						COBL_ENST00000441453.1_Splice_Site|COBL_ENST00000265136.7_Splice_Site|COBL_ENST00000395540.2_Splice_Site				O75128	COBL_HUMAN			5	870	-	Glioma(55;0.08)							A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Splice_Site	SNP	ENST00000265136.7	37		CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863499	0.71949	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542;ENST00000452534;ENST00000395540;ENST00000441453	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4418	0.83903	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COBL	51219391	1.000000	0.71417	0.993000	0.49108	0.975000	0.68041	5.053000	0.64269	2.735000	0.93741	0.561000	0.74099	.		0.279	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198	Intron	8	22	0	0	0	1	0	8	22				
KIAA0513	9764	broad.mit.edu	37	16	85112592	85112592	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:85112592G>A	ENST00000566428.1	+	8	1516	c.885G>A	c.(883-885)ctG>ctA	p.L295L	KIAA0513_ENST00000258180.3_Silent_p.L295L|KIAA0513_ENST00000538274.1_Silent_p.L295L|KIAA0513_ENST00000567328.1_Silent_p.L295L			O60268	K0513_HUMAN	KIAA0513	295						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACACGCACCTGAAGCAACAGC	0.592																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(883-885)ctG>ctA		KIAA0513							116.0	97.0	104.0					16																	85112592		2198	4300	6498	SO:0001819	synonymous_variant	9764					cytoplasm		g.chr16:85112592G>A	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.885G>A	16.37:g.85112592G>A						KIAA0513_ENST00000258180.3_Silent_p.L295L|KIAA0513_ENST00000567328.1_Silent_p.L295L|KIAA0513_ENST00000538274.1_Silent_p.L295L	p.L295L			O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	8	1516	+			295					B4DSS5|D3DUM2|Q8N6G0	Silent	SNP	ENST00000566428.1	37	c.885G>A	CCDS32499.1																																																																																				0.592	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		13	49	0	0	0	1	0	13	49				
NAT1	9	broad.mit.edu	37	8	18080136	18080136	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:18080136C>G	ENST00000517492.1	+	3	1218	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	NAT1_ENST00000520546.1_Missense_Mutation_p.L194V|NAT1_ENST00000307719.4_Missense_Mutation_p.L194V|NAT1_ENST00000541942.1_Missense_Mutation_p.L194V|NAT1_ENST00000518029.1_Missense_Mutation_p.L194V|NAT1_ENST00000539092.1_Missense_Mutation_p.L194V|NAT1_ENST00000545197.1_Missense_Mutation_p.L256V|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000535084.1_Missense_Mutation_p.L194V			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		CTCCTTTACTCTTAAGCCTCG	0.363																																						ENST00000539092.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9						c.(580-582)Ctt>Gtt		N-acetyltransferase 1 (arylamine N-acetyltransferase)							119.0	122.0	121.0					8																	18080136		2203	4300	6503	SO:0001583	missense	9				xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18080136C>G	BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.580C>G	8.37:g.18080136C>G	ENSP00000429407:p.Leu194Val					NAT1_ENST00000518029.1_Missense_Mutation_p.L194V|NAT1_ENST00000307719.4_Missense_Mutation_p.L194V|NAT1_ENST00000541942.1_Missense_Mutation_p.L194V|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000520546.1_Missense_Mutation_p.L194V|NAT1_ENST00000535084.1_Missense_Mutation_p.L194V|NAT1_ENST00000545197.1_Missense_Mutation_p.L256V|NAT1_ENST00000517492.1_Missense_Mutation_p.L194V	p.L194V	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN		Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)	5	1271	+			194					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000517492.1	37	c.580C>G	CCDS6007.1	.	.	.	.	.	.	.	.	.	.	.	15.51	2.854836	0.51376	.	.	ENSG00000171428	ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546	T;T;T;T;T;T;T;T	0.02472	4.28;4.28;4.28;4.28;4.28;4.28;4.28;4.28	4.05	4.05	0.47172	.	0.000000	0.64402	D	0.000002	T	0.15305	0.0369	M	0.88031	2.925	0.38619	D	0.951086	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.985	T	0.00534	-1.1684	10	0.87932	D	0	.	8.0773	0.30724	0.0:0.8851:0.0:0.1149	.	256;194	F5H5R8;P18440	.;ARY1_HUMAN	V	194;194;256;194;194;194;194;194	ENSP00000444609:L194V;ENSP00000307218:L194V;ENSP00000443194:L256V;ENSP00000440434:L194V;ENSP00000440900:L194V;ENSP00000428270:L194V;ENSP00000429407:L194V;ENSP00000429341:L194V	ENSP00000307218:L194V	L	+	1	0	NAT1	18124416	0.997000	0.39634	0.994000	0.49952	0.806000	0.45545	1.634000	0.37123	1.978000	0.57642	0.460000	0.39030	CTT		0.363	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374828.1	NM_000662		25	132	0	0	0	1	0	25	132				
BATF2	116071	broad.mit.edu	37	11	64756793	64756793	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:64756793C>T	ENST00000301887.4	-	3	763	c.633G>A	c.(631-633)ctG>ctA	p.L211L	BATF2_ENST00000527716.1_Silent_p.L187L|BATF2_ENST00000435842.2_Silent_p.L126L	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	211					defense response to protozoan (GO:0042832)|myeloid dendritic cell differentiation (GO:0043011)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						TGGGATGCTCCAGCTCGAGGG	0.647																																						ENST00000301887.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						c.(631-633)ctG>ctA		basic leucine zipper transcription factor, ATF-like 2							40.0	40.0	40.0					11																	64756793		2201	4297	6498	SO:0001819	synonymous_variant	116071					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:64756793C>T	AK092453	CCDS8087.1, CCDS73317.1	11q13.1	2013-01-10			ENSG00000168062	ENSG00000168062		"""basic leucine zipper proteins"""	25163	protein-coding gene	gene with protein product		614983					Standard	NM_138456		Approved	MGC20410	uc001ocf.1	Q8N1L9	OTTHUMG00000165633	ENST00000301887.4:c.633G>A	11.37:g.64756793C>T						BATF2_ENST00000435842.2_Silent_p.L126L|BATF2_ENST00000527716.1_Silent_p.L187L	p.L211L	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN			3	763	-			211					D9IC56|Q8NAF4|Q8NAL8|Q96EH4	Silent	SNP	ENST00000301887.4	37	c.633G>A	CCDS8087.1																																																																																				0.647	BATF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385478.2	NM_138456		17	41	0	0	0	1	0	17	41				
FAM46C	54855	broad.mit.edu	37	1	118165963	118165963	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:118165963C>T	ENST00000369448.3	+	2	720	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	158										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		ATCTCCCTCTCCAACAAGAAC	0.493			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												ENST00000369448.3				Rec	yes		1	1p12	54855	"""Mis, F, O"""	"""family with sequence similarity 46, member C"""			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(472-474)tCc>tTc		family with sequence similarity 46, member C							136.0	128.0	130.0					1																	118165963		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118165963C>T	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.473C>T	1.37:g.118165963C>T	ENSP00000358458:p.Ser158Phe	Multiple Myeloma(3;1.13e-06)					p.S158F	NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	720	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	158					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.473C>T	CCDS896.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398813	0.62177	.	.	ENSG00000183508	ENST00000369448	T	0.26518	1.73	5.75	4.82	0.62117	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000003	T	0.37758	0.1015	M	0.82517	2.595	0.80722	D	1	D	0.59767	0.986	P	0.57679	0.825	T	0.35301	-0.9794	10	0.36615	T	0.2	0.0038	15.7706	0.78164	0.0:0.8633:0.1367:0.0	.	158	Q5VWP2	FA46C_HUMAN	F	158	ENSP00000358458:S158F	ENSP00000358458:S158F	S	+	2	0	FAM46C	117967486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.040000	0.70980	1.395000	0.46643	0.655000	0.94253	TCC		0.493	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		25	99	0	0	0	1	0	25	99				
TAS2R10	50839	broad.mit.edu	37	12	10978133	10978133	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:10978133C>T	ENST00000240619.2	-	1	824	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	246					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATGATATTTCTATGGCCATG	0.378																																						ENST00000240619.2																			0				breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(736-738)Gaa>Aaa		taste receptor, type 2, member 10							104.0	103.0	103.0					12																	10978133		2203	4300	6503	SO:0001583	missense	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978133C>T	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.736G>A	12.37:g.10978133C>T	ENSP00000240619:p.Glu246Lys						p.E246K	NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN			1	824	-			246					Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	c.736G>A	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505516	0.44558	.	.	ENSG00000121318	ENST00000240619	T	0.00745	5.75	4.04	2.2	0.27929	.	0.560684	0.15813	N	0.243381	T	0.01061	0.0035	L	0.59436	1.845	0.09310	N	1	B	0.27192	0.171	B	0.32624	0.149	T	0.43196	-0.9406	10	0.13108	T	0.6	.	7.9991	0.30286	0.0:0.788:0.0:0.212	.	246	Q9NYW0	T2R10_HUMAN	K	246	ENSP00000240619:E246K	ENSP00000240619:E246K	E	-	1	0	TAS2R10	10869400	0.000000	0.05858	0.207000	0.23584	0.076000	0.17211	-0.165000	0.09968	1.067000	0.40740	0.585000	0.79938	GAA		0.378	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			37	111	0	0	0	1	0	37	111				
COL4A3BP	10087	broad.mit.edu	37	5	74721288	74721288	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:74721288C>G	ENST00000405807.4	-	5	914	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.E165Q|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.E293Q	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	165					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		CTAAATGTTTCCATTTCAGCC	0.388																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(877-879)Gaa>Caa		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							148.0	134.0	139.0					5																	74721288		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74721288C>G	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.493G>C	5.37:g.74721288C>G	ENSP00000383996:p.Glu165Gln					COL4A3BP_ENST00000405807.4_Missense_Mutation_p.E165Q|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.E165Q	p.E293Q	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	6	1170	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	165					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.877G>C	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920448	0.92249	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.38240	1.22;1.15;1.24	5.75	5.75	0.90469	.	0.045100	0.85682	N	0.000000	T	0.38321	0.1036	L	0.51422	1.61	0.80722	D	1	B;P;B	0.36909	0.084;0.573;0.267	B;B;B	0.35971	0.016;0.215;0.088	T	0.15665	-1.0429	10	0.46703	T	0.11	-1.5982	20.0077	0.97437	0.0:1.0:0.0:0.0	.	165;293;165	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	Q	165;293;165	ENSP00000383996:E165Q;ENSP00000369862:E293Q;ENSP00000261415:E165Q	ENSP00000261415:E165Q	E	-	1	0	COL4A3BP	74757044	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.759000	0.85235	2.738000	0.93877	0.579000	0.79373	GAA		0.388	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		30	78	0	0	0	1	0	30	78				
GIPC1	10755	broad.mit.edu	37	19	14591135	14591135	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:14591135C>T	ENST00000393033.4	-	6	906	c.637G>A	c.(637-639)Gag>Aag	p.E213K	GIPC1_ENST00000393029.3_Missense_Mutation_p.E116K|GIPC1_ENST00000393028.1_Missense_Mutation_p.E116K|GIPC1_ENST00000345425.2_Missense_Mutation_p.E213K|GIPC1_ENST00000591349.1_Missense_Mutation_p.E116K|GIPC1_ENST00000586027.1_Missense_Mutation_p.E213K	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	213	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTGCGAGGCTCCGTGAGCTTC	0.716											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)	ENST00000393033.4																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(637-639)Gag>Aag		GIPC PDZ domain containing family, member 1							33.0	36.0	35.0					19																	14591135		2203	4300	6503	SO:0001583	missense	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14591135C>T	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.637G>A	19.37:g.14591135C>T	ENSP00000376753:p.Glu213Lys		OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	696	GIPC1_ENST00000393028.1_Missense_Mutation_p.E116K|GIPC1_ENST00000345425.2_Missense_Mutation_p.E213K|GIPC1_ENST00000393029.3_Missense_Mutation_p.E116K|GIPC1_ENST00000591349.1_Missense_Mutation_p.E116K|GIPC1_ENST00000586027.1_Missense_Mutation_p.E213K	p.E213K	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN			6	906	-			213			PDZ.		A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	ENST00000393033.4	37	c.637G>A	CCDS12310.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262481	0.80358	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	4.96	4.96	0.65561	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.91663	3.23	0.80722	D	1	D	0.67145	0.996	D	0.65010	0.931	T	0.75402	-0.3330	10	0.72032	D	0.01	-6.7487	15.6737	0.77297	0.0:1.0:0.0:0.0	.	213	O14908	GIPC1_HUMAN	K	213;213;116;116;213	ENSP00000376753:E213K;ENSP00000340698:E213K;ENSP00000376749:E116K;ENSP00000376748:E116K	ENSP00000340698:E213K	E	-	1	0	GIPC1	14452135	0.997000	0.39634	0.992000	0.48379	0.240000	0.25518	3.558000	0.53749	2.311000	0.77944	0.561000	0.74099	GAG		0.716	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			23	35	0	0	0	1	0	23	35				
CNTRL	11064	broad.mit.edu	37	9	123937392	123937392	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:123937392G>A	ENST00000373855.1	+	43	7104	c.6844G>A	c.(6844-6846)Gat>Aat	p.D2282N	CNTRL_ENST00000373850.1_Missense_Mutation_p.D1730N|CNTRL_ENST00000238341.5_Missense_Mutation_p.D2282N|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2282	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAGACAAGTAGATGCTTTAGG	0.498																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(6844-6846)Gat>Aat		centriolin							141.0	135.0	137.0					9																	123937392		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123937392G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6844G>A	9.37:g.123937392G>A	ENSP00000362962:p.Asp2282Asn					CNTRL_ENST00000373850.1_Missense_Mutation_p.D1730N|CNTRL_ENST00000238341.5_Missense_Mutation_p.D2282N|CNTRL_ENST00000373845.2_3'UTR	p.D2282N			Q7Z7A1	CNTRL_HUMAN			43	7104	+			2282			Sufficient for interaction with HOOK2.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6844G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388752	0.82902	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.35973	1.44;1.44;1.28	5.33	5.33	0.75918	.	.	.	.	.	T	0.47173	0.1431	M	0.61703	1.905	0.42463	D	0.992792	D	0.57257	0.979	P	0.51833	0.681	T	0.40040	-0.9584	9	0.35671	T	0.21	.	15.2066	0.73183	0.0:0.1408:0.8592:0.0	.	2282	Q7Z7A1	CNTRL_HUMAN	N	2282;2282;2282;439;1730;964	ENSP00000362962:D2282N;ENSP00000238341:D2282N;ENSP00000362956:D1730N	ENSP00000238341:D2282N	D	+	1	0	CNTRL	122977213	1.000000	0.71417	0.771000	0.31576	0.854000	0.48673	5.874000	0.69652	2.479000	0.83701	0.555000	0.69702	GAT		0.498	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		25	95	0	0	0	1	0	25	95				
ARHGAP29	9411	broad.mit.edu	37	1	94671233	94671233	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:94671233C>T	ENST00000260526.6	-	6	699	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E173K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	173					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAAACATTTTCAAACGACTTA	0.308																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(517-519)Gaa>Aaa		Rho GTPase activating protein 29							75.0	80.0	78.0					1																	94671233		2203	4296	6499	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94671233C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.517G>A	1.37:g.94671233C>T	ENSP00000260526:p.Glu173Lys					ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E173K	p.E173K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	6	699	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	173					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.517G>A	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836145	0.71373	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.26810	1.71;1.76	6.08	6.08	0.98989	.	0.000000	0.39759	N	0.001267	T	0.43612	0.1255	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.971	T	0.19778	-1.0295	10	0.72032	D	0.01	-32.2864	20.6721	0.99693	0.0:1.0:0.0:0.0	.	173;173	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	K	173	ENSP00000260526:E173K;ENSP00000359237:E173K	ENSP00000260526:E173K	E	-	1	0	ARHGAP29	94443821	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	6.264000	0.72527	2.894000	0.99253	0.591000	0.81541	GAA		0.308	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		25	114	0	0	0	1	0	25	114				
MVP	9961	broad.mit.edu	37	16	29858706	29858706	+	Splice_Site	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:29858706G>A	ENST00000357402.5	+	14	2592	c.2454G>A	c.(2452-2454)caG>caA	p.Q818Q	MVP_ENST00000395353.1_Splice_Site_p.Q818Q	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	818					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTGAGATGCAGGTGAGAGTTG	0.552																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.e14+1		major vault protein							47.0	30.0	36.0					16																	29858706		2197	4300	6497	SO:0001630	splice_region_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29858706G>A	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2454+1G>A	16.37:g.29858706G>A						MVP_ENST00000395353.1_Splice_Site_p.Q818_splice	p.Q818_splice	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			14	2592	+			818					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Splice_Site	SNP	ENST00000357402.5	37	c.2454_splice	CCDS10656.1																																																																																				0.552	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115	Silent	6	14	0	0	0	1	0	6	14				
CCRL2	9034	broad.mit.edu	37	3	46449886	46449886	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:46449886C>T	ENST00000399036.3	+	2	668	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	CCRL2_ENST00000357392.4_Missense_Mutation_p.L118F|CCRL2_ENST00000400880.3_Missense_Mutation_p.L106F|CCRL2_ENST00000400882.2_Missense_Mutation_p.L106F|RP11-24F11.2_ENST00000451485.1_RNA	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	106					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GTGTAAAATTCTCATTGGACT	0.433																																						ENST00000399036.3																			0											c.(316-318)Ctc>Ttc									90.0	89.0	89.0					3																	46449886		2008	4155	6163	SO:0001583	missense	9034							g.chr3:46449886C>T	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.316C>T	3.37:g.46449886C>T	ENSP00000381994:p.Leu106Phe					ACKR5_ENST00000400882.2_Missense_Mutation_p.L106F|ACKR5_ENST00000400880.3_Missense_Mutation_p.L106F|ACKR5_ENST00000357392.4_Missense_Mutation_p.L118F	p.L106F	NM_003965.4	NP_003956.2					2	668	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.316C>T	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974285	0.53720	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.25	-3.6	0.04570	GPCR, rhodopsin-like superfamily (1);	0.460849	0.19738	N	0.107184	T	0.23249	0.0562	M	0.62088	1.915	0.09310	N	1	P;P	0.38551	0.583;0.636	B;B	0.36244	0.14;0.22	T	0.10965	-1.0607	10	0.38643	T	0.18	.	0.6707	0.00858	0.2422:0.1968:0.3149:0.2461	.	118;106	O00421-2;O00421	.;CCRL2_HUMAN	F	106;118;106;106;106	ENSP00000381994:L106F;ENSP00000349967:L118F;ENSP00000383677:L106F;ENSP00000414957:L106F;ENSP00000383678:L106F	ENSP00000349967:L118F	L	+	1	0	CCRL2	46424890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.651000	0.05372	-0.286000	0.09076	0.491000	0.48974	CTC		0.433	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			28	103	0	0	0	1	0	28	103				
LRRC23	10233	broad.mit.edu	37	12	7014813	7014813	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:7014813G>A	ENST00000007969.8	+	2	236	c.16G>A	c.(16-18)Gat>Aat	p.D6N	LRRC23_ENST00000433346.1_Missense_Mutation_p.D6N|LRRC23_ENST00000436789.1_Missense_Mutation_p.D6N|LRRC23_ENST00000323702.5_Missense_Mutation_p.D6N|LRRC23_ENST00000429740.1_Missense_Mutation_p.D6N|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000443597.2_Missense_Mutation_p.D6N	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	6										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGATGAAGATGATCTAGAAGA	0.488																																						ENST00000007969.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						c.(16-18)Gat>Aat		leucine rich repeat containing 23							73.0	77.0	76.0					12																	7014813		2203	4300	6503	SO:0001583	missense	10233							g.chr12:7014813G>A	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.16G>A	12.37:g.7014813G>A	ENSP00000007969:p.Asp6Asn					LRRC23_ENST00000429740.1_Missense_Mutation_p.D6N|LRRC23_ENST00000433346.1_Missense_Mutation_p.D6N|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000436789.1_Missense_Mutation_p.D6N|LRRC23_ENST00000443597.2_Missense_Mutation_p.D6N|LRRC23_ENST00000323702.5_Missense_Mutation_p.D6N	p.D6N	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN			2	236	+			6					A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	c.16G>A	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548362	0.65311	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000415834;ENST00000436789;ENST00000429740	T;T;T;T;T;T;T	0.70869	1.53;-0.21;-0.52;-0.21;0.57;1.59;1.12	4.75	4.75	0.60458	.	.	.	.	.	T	0.72137	0.3423	L	0.29908	0.895	0.40031	D	0.975532	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;P;D	0.69479	0.948;0.964;0.888;0.922	T	0.66968	-0.5789	9	0.16896	T	0.51	-23.2422	13.1174	0.59307	0.0:0.0:1.0:0.0	.	6;6;6;6	E9PDZ4;Q53EV4-2;Q53EV4;C9JKE8	.;.;LRC23_HUMAN;.	N	6	ENSP00000402554:D6N;ENSP00000007969:D6N;ENSP00000317464:D6N;ENSP00000390932:D6N;ENSP00000408066:D6N;ENSP00000396049:D6N;ENSP00000397192:D6N	ENSP00000007969:D6N	D	+	1	0	LRRC23	6885074	0.540000	0.26410	1.000000	0.80357	0.794000	0.44872	1.734000	0.38166	2.454000	0.82982	0.561000	0.74099	GAT		0.488	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		19	83	0	0	0	1	0	19	83				
RFX7	64864	broad.mit.edu	37	15	56387817	56387817	+	Silent	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56387817C>A	ENST00000559447.2	-	9	2089	c.1818G>T	c.(1816-1818)ggG>ggT	p.G606G	RFX7_ENST00000422057.1_Silent_p.G606G|RFX7_ENST00000423270.1_Silent_p.G703G|RFX7_ENST00000317318.6_Silent_p.G703G			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	606					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTTCTGTTTTCCCTGAATGTG	0.448																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2107-2109)ggG>ggT		regulatory factor X, 7							126.0	115.0	118.0					15																	56387817		1919	4140	6059	SO:0001819	synonymous_variant	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387817C>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1818G>T	15.37:g.56387817C>A						RFX7_ENST00000422057.1_Silent_p.G606G|RFX7_ENST00000559447.2_Silent_p.G606G|RFX7_ENST00000317318.6_Silent_p.G703G	p.G703G	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	2108	-			606					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Silent	SNP	ENST00000559447.2	37	c.2109G>T																																																																																					0.448	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		23	82	1	0	3.62473e-10	1	3.79302e-10	23	82				
MED17	9440	broad.mit.edu	37	11	93529598	93529598	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:93529598G>A	ENST00000251871.3	+	7	1322	c.1035G>A	c.(1033-1035)ttG>ttA	p.L345L	MED17_ENST00000533367.1_3'UTR|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	345					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTATTTCTTTGTGCCATTCCT	0.343																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.(1033-1035)ttG>ttA		mediator complex subunit 17							149.0	150.0	150.0					11																	93529598		2201	4298	6499	SO:0001819	synonymous_variant	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93529598G>A	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1035G>A	11.37:g.93529598G>A						MED17_ENST00000533367.1_3'UTR	p.L345L	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN			7	1322	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	345					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Silent	SNP	ENST00000251871.3	37	c.1035G>A	CCDS8295.1																																																																																				0.343	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		22	76	0	0	0	1	0	22	76				
USP16	10600	broad.mit.edu	37	21	30414333	30414333	+	Splice_Site	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:30414333G>C	ENST00000334352.4	+	12	1261		c.e12-1		USP16_ENST00000399975.3_Splice_Site|USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Splice_Site	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TTTCTCCATAGATTATGAGAA	0.294																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.e12-1		ubiquitin specific peptidase 16							76.0	72.0	73.0					21																	30414333		2202	4299	6501	SO:0001630	splice_region_variant	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30414333G>C	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1031-1G>C	21.37:g.30414333G>C						USP16_ENST00000399975.3_Splice_Site|USP16_ENST00000399976.2_Splice_Site|USP16_ENST00000535828.1_Intron		NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			12	1261	+									Splice_Site	SNP	ENST00000334352.4	37		CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785254	0.31593	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9621	0.92680	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP16	29336204	1.000000	0.71417	0.995000	0.50966	0.023000	0.10783	8.630000	0.90987	2.718000	0.92993	0.591000	0.81541	.		0.294	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1		Intron	4	26	0	0	0	1	0	4	26				
NCOA5	57727	broad.mit.edu	37	20	44699104	44699104	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:44699104C>T	ENST00000290231.6	-	3	274	c.110G>A	c.(109-111)aGa>aAa	p.R37K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	37	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCTGGGCTCTCTCCTTGGACT	0.547																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(109-111)aGa>aAa		nuclear receptor coactivator 5							105.0	104.0	104.0					20																	44699104		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44699104C>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.110G>A	20.37:g.44699104C>T	ENSP00000290231:p.Arg37Lys						p.R37K	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			3	274	-		Myeloproliferative disorder(115;0.0122)	37			Arg/Asp-rich (mixed charge).|Transcription repression.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.110G>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393406	0.83011	.	.	ENSG00000124160	ENST00000290231	T	0.52983	0.64	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.73598	2.24	0.42471	D	0.992825	D	0.56035	0.974	D	0.67725	0.953	T	0.65890	-0.6058	10	0.37606	T	0.19	1.9125	18.3288	0.90262	0.0:1.0:0.0:0.0	.	37	Q9HCD5	NCOA5_HUMAN	K	37	ENSP00000290231:R37K	ENSP00000290231:R37K	R	-	2	0	NCOA5	44132511	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.125000	0.71627	2.801000	0.96364	0.650000	0.86243	AGA		0.547	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		7	153	0	0	0	1	0	7	153				
NOTCH1	4851	broad.mit.edu	37	9	139396248	139396248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:139396248G>A	ENST00000277541.6	-	30	5665	c.5590C>T	c.(5590-5592)Cag>Tag	p.Q1864*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1864					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTCACCCTGGGGCGGTGTG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(5590-5592)Cag>Tag		notch 1							25.0	29.0	27.0					9																	139396248		2084	4205	6289	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139396248G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5590C>T	9.37:g.139396248G>A	ENSP00000277541:p.Gln1864*	HNSCC(8;0.001)					p.Q1864*	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	30	5665	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1864					Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.5590C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	44	10.803309	0.99470	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.9569	0.79893	0.0:0.0:1.0:0.0	.	.	.	.	X	1864	.	ENSP00000277541:Q1864X	Q	-	1	0	NOTCH1	138516069	1.000000	0.71417	0.993000	0.49108	0.184000	0.23303	9.476000	0.97823	2.037000	0.60232	0.492000	0.49549	CAG		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		19	15	0	0	0	1	0	19	15				
MTUS1	57509	broad.mit.edu	37	8	17504494	17504494	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:17504494G>A	ENST00000262102.6	-	14	3820	c.3596C>T	c.(3595-3597)tCa>tTa	p.S1199L	MTUS1_ENST00000381869.3_Missense_Mutation_p.S1145L|MTUS1_ENST00000544260.1_Missense_Mutation_p.S344L|MTUS1_ENST00000519263.1_Missense_Mutation_p.S1145L|MTUS1_ENST00000381861.3_Missense_Mutation_p.S446L|MTUS1_ENST00000400046.1_Missense_Mutation_p.S271L|MTUS1_ENST00000297488.6_Missense_Mutation_p.S365L|MTUS1_ENST00000518713.1_5'Flank	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1199					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTTTTACCTTGAGATTGCCAT	0.488																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(3433-3435)tCa>tTa		microtubule associated tumor suppressor 1							170.0	171.0	171.0					8																	17504494		1889	4123	6012	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17504494G>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3596C>T	8.37:g.17504494G>A	ENSP00000262102:p.Ser1199Leu					MTUS1_ENST00000400046.1_Missense_Mutation_p.S271L|MTUS1_ENST00000519263.1_Missense_Mutation_p.S1145L|MTUS1_ENST00000544260.1_Missense_Mutation_p.S344L|MTUS1_ENST00000262102.6_Missense_Mutation_p.S1199L|MTUS1_ENST00000297488.6_Missense_Mutation_p.S365L|MTUS1_ENST00000381861.3_Missense_Mutation_p.S446L	p.S1145L	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	13	3907	-			1199					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.3434C>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975335	0.74360	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	M	0.86651	2.83	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.91017	0.4854	10	0.87932	D	0	.	16.538	0.84377	0.0:0.0:1.0:0.0	.	1145;1199;446;365	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	L	1145;344;271;365;446;1199;1145	ENSP00000371293:S1145L;ENSP00000445738:S344L;ENSP00000382921:S271L;ENSP00000297488:S365L;ENSP00000371285:S446L;ENSP00000262102:S1199L;ENSP00000430167:S1145L	ENSP00000262102:S1199L	S	-	2	0	MTUS1	17548774	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	6.095000	0.71439	2.664000	0.90586	0.655000	0.94253	TCA		0.488	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		24	73	0	0	0	1	0	24	73				
INTS9	55756	broad.mit.edu	37	8	28651377	28651377	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:28651377G>A	ENST00000521022.1	-	10	1065	c.984C>T	c.(982-984)ttC>ttT	p.F328F	INTS9_ENST00000397363.4_Silent_p.F222F|INTS9_ENST00000521777.1_Silent_p.F304F|INTS9_ENST00000416984.2_Silent_p.F307F	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	328					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CAGGGGAGATGAAGTAGAGGG	0.468																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(919-921)ttC>ttT		integrator complex subunit 9							82.0	82.0	82.0					8																	28651377		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28651377G>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.984C>T	8.37:g.28651377G>A						INTS9_ENST00000397363.4_Silent_p.F222F|INTS9_ENST00000521777.1_Silent_p.F304F|INTS9_ENST00000521022.1_Silent_p.F328F	p.F307F	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	9	1280	-		Ovarian(32;0.0439)	328					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.921C>T	CCDS34873.1																																																																																				0.468	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		14	62	0	0	0	1	0	14	62				
BTBD2	55643	broad.mit.edu	37	19	1990034	1990034	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:1990034G>A	ENST00000255608.4	-	5	973	c.957C>T	c.(955-957)ttC>ttT	p.F319F	AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	319						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGAGCGGGAAGCGAATGA	0.642																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(955-957)ttC>ttT		BTB (POZ) domain containing 2							53.0	49.0	50.0					19																	1990034		2203	4300	6503	SO:0001819	synonymous_variant	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1990034G>A	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.957C>T	19.37:g.1990034G>A						AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	p.F319F	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	973	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	319					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	c.957C>T	CCDS12078.1																																																																																				0.642	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			7	58	0	0	0	1	0	7	58				
GPR149	344758	broad.mit.edu	37	3	154138881	154138881	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:154138881C>G	ENST00000389740.2	-	3	1669	c.1570G>C	c.(1570-1572)Gat>Cat	p.D524H		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	524					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)			TCTGAAAGATCTGGTTTCTGA	0.393																																						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.(1570-1572)Gat>Cat		G protein-coupled receptor 149							93.0	84.0	86.0					3																	154138881		1826	4079	5905	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154138881C>G	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.1570G>C	3.37:g.154138881C>G	ENSP00000374390:p.Asp524His						p.D524H	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	1669	-			524						Missense_Mutation	SNP	ENST00000389740.2	37	c.1570G>C	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162275	0.38217	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.15	4.26	0.50523	.	0.203652	0.50627	N	0.000118	T	0.54046	0.1834	L	0.51422	1.61	0.37261	D	0.906975	P	0.39216	0.664	B	0.39185	0.293	T	0.65220	-0.6221	9	0.87932	D	0	-9.9525	14.2921	0.66286	0.0:0.9267:0.0:0.0733	.	524	Q86SP6	GP149_HUMAN	H	524	.	ENSP00000374390:D524H	D	-	1	0	GPR149	155621575	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	5.138000	0.64795	1.289000	0.44618	0.454000	0.30748	GAT		0.393	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		23	127	0	0	0	1	0	23	127				
IGSF9	57549	broad.mit.edu	37	1	159906269	159906269	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:159906269C>G	ENST00000368094.1	-	6	790	c.593G>C	c.(592-594)cGa>cCa	p.R198P	IGSF9_ENST00000361509.3_Missense_Mutation_p.R198P|IGSF9_ENST00000493195.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	198	Ig-like 2.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGCTGCCTCGCTCTACCCG	0.657											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(592-594)cGa>cCa		immunoglobulin superfamily, member 9							47.0	47.0	47.0					1																	159906269		2203	4300	6503	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159906269C>G	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.593G>C	1.37:g.159906269C>G	ENSP00000357073:p.Arg198Pro		OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1804	IGSF9_ENST00000361509.3_Missense_Mutation_p.R198P	p.R198P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	790	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	198			Ig-like 2.			Missense_Mutation	SNP	ENST00000368094.1	37	c.593G>C	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113444	0.77210	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.76839	-1.05;-1.05	5.19	4.07	0.47477	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.238465	0.21634	N	0.071438	T	0.71771	0.3379	N	0.22421	0.69	0.35311	D	0.78388	D;D	0.89917	0.995;1.0	D;D	0.81914	0.953;0.995	T	0.71374	-0.4612	9	.	.	.	-7.4558	11.9013	0.52685	0.0:0.8994:0.0:0.1006	.	198;198	Q9P2J2;C9JI81	TUTLA_HUMAN;.	P	198	ENSP00000355049:R198P;ENSP00000357073:R198P	.	R	-	2	0	IGSF9	158172893	0.809000	0.29036	0.628000	0.29241	0.916000	0.54674	4.040000	0.57333	2.418000	0.82041	0.655000	0.94253	CGA		0.657	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		13	36	0	0	0	1	0	13	36				
GFER	2671	broad.mit.edu	37	16	2035901	2035901	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:2035901G>A	ENST00000248114.6	+	3	496	c.490G>A	c.(490-492)Gca>Aca	p.A164T	AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.A89T|GFER_ENST00000569451.1_Missense_Mutation_p.G98D	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	164	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|protein disulfide oxidoreductase activity (GO:0015035)|thiol oxidase activity (GO:0016972)			endometrium(1)|large_intestine(1)|lung(3)	5					Flavin adenine dinucleotide(DB03147)	CCGCACCCGGGCATGCTTCAC	0.607																																						ENST00000248114.6																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(490-492)Gca>Aca		growth factor, augmenter of liver regeneration							95.0	97.0	96.0					16																	2035901		2198	4299	6497	SO:0001583	missense	2671				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	g.chr16:2035901G>A	BC002429	CCDS32368.1	16p13.3-p13.12	2011-06-22	2008-08-01		ENSG00000127554	ENSG00000127554			4236	protein-coding gene	gene with protein product	"""ERV1 homolog (S. cerevisiae)"""	600924	"""growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)"""			8575761	Standard	NM_005262		Approved	HSS, ERV1, ALR, HERV1, HPO1, HPO2	uc002cob.3	P55789		ENST00000248114.6:c.490G>A	16.37:g.2035901G>A	ENSP00000248114:p.Ala164Thr					AC005606.14_ENST00000564438.1_lincRNA|GFER_ENST00000567719.1_Missense_Mutation_p.A89T|GFER_ENST00000569451.1_Missense_Mutation_p.G98D	p.A164T	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN			3	496	+			164			ERV/ALR sulfhydryl oxidase.		Q53YM6|Q8TAH6|Q9H290|Q9UK40	Missense_Mutation	SNP	ENST00000248114.6	37	c.490G>A	CCDS32368.1	.	.	.	.	.	.	.	.	.	.	G	3.052	-0.195204	0.06259	.	.	ENSG00000127554	ENST00000248114;ENST00000425414	T	0.54479	0.57	4.43	0.729	0.18266	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);	0.596625	0.16796	N	0.199168	T	0.27663	0.0680	N	0.17872	0.535	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.003	T	0.11591	-1.0581	10	0.13470	T	0.59	-0.0276	3.4054	0.07339	0.4511:0.2075:0.3415:0.0	.	90;164	Q9UQK8;P55789	.;ALR_HUMAN	T	164;84	ENSP00000248114:A164T	ENSP00000248114:A164T	A	+	1	0	GFER	1975902	0.019000	0.18553	0.005000	0.12908	0.065000	0.16274	0.868000	0.27982	0.416000	0.25844	0.511000	0.50034	GCA		0.607	GFER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434243.1	NM_005262		4	137	0	0	0	1	0	4	137				
SPEN	23013	broad.mit.edu	37	1	16260202	16260202	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16260202C>G	ENST00000375759.3	+	11	7671	c.7467C>G	c.(7465-7467)atC>atG	p.I2489M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2489	Pro-rich.|RID.				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 neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGGGGGGATCCCACACCAGA	0.602																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7465-7467)atC>atG		spen family transcriptional repressor							84.0	76.0	79.0					1																	16260202		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260202C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7467C>G	1.37:g.16260202C>G	ENSP00000364912:p.Ile2489Met						p.I2489M	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7671	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2489			Pro-rich.|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7467C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	3.398	-0.122874	0.06795	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.04	4.13	0.48395	.	.	.	.	.	T	0.09774	0.0240	N	0.22421	0.69	0.30713	N	0.749064	B	0.34015	0.435	B	0.39465	0.3	T	0.11251	-1.0595	9	0.40728	T	0.16	-3.7525	9.7613	0.40534	0.0:0.8417:0.0:0.1583	.	2489	Q96T58	MINT_HUMAN	M	2489	ENSP00000364912:I2489M	ENSP00000364912:I2489M	I	+	3	3	SPEN	16132789	0.110000	0.22057	0.960000	0.40013	0.402000	0.30811	0.609000	0.24238	1.128000	0.42052	0.561000	0.74099	ATC		0.602	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		30	99	0	0	0	1	0	30	99				
CLCNKB	1188	broad.mit.edu	37	1	16378708	16378708	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16378708C>T	ENST00000375679.4	+	15	1535	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	CLCNKB_ENST00000375667.3_Missense_Mutation_p.S306L	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	475					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)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		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)		GCAGCCTTCTCAGGGGCTGTG	0.682																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(1423-1425)tCa>tTa		chloride channel, voltage-sensitive Kb							46.0	46.0	46.0					1																	16378708		2203	4298	6501	SO:0001583	missense	1188							g.chr1:16378708C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1424C>T	1.37:g.16378708C>T	ENSP00000364831:p.Ser475Leu					CLCNKB_ENST00000375667.3_Missense_Mutation_p.S306L	p.S475L	NM_000085.4	NP_000076.2				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)	15	1535	+		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)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1424C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	27.4	4.828524	0.90955	.	.	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	D;D	0.92099	-2.97;-2.97	4.57	4.57	0.56435	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.93706	0.7989	L	0.38649	1.16	0.80722	D	1	P;D	0.89917	0.95;1.0	D;D	0.97110	0.959;1.0	D	0.94710	0.7891	10	0.87932	D	0	.	15.9387	0.79736	0.0:1.0:0.0:0.0	.	306;475	Q5T5Q7;P51801	.;CLCKB_HUMAN	L	475;347;306	ENSP00000364831:S475L;ENSP00000364819:S306L	ENSP00000332055:S347L	S	+	2	0	CLCNKB	16251295	1.000000	0.71417	0.932000	0.37286	0.988000	0.76386	7.650000	0.83521	2.089000	0.63090	0.555000	0.69702	TCA		0.682	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		10	62	0	0	0	1	0	10	62				
TRERF1	55809	broad.mit.edu	37	6	42214269	42214269	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:42214269C>G	ENST00000372922.4	-	14	3232	c.2670G>C	c.(2668-2670)tgG>tgC	p.W890C	TRERF1_ENST00000372917.4_Missense_Mutation_p.W807C|TRERF1_ENST00000340840.2_Missense_Mutation_p.W807C|TRERF1_ENST00000541110.1_Missense_Mutation_p.W910C|TRERF1_ENST00000354325.2_Missense_Mutation_p.W807C	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	890	Interacts with CREBBP.|SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTAGGGAGGTCCACTTGTCCG	0.383																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(2728-2730)tgG>tgC		transcriptional regulating factor 1							107.0	105.0	106.0					6																	42214269		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42214269C>G	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2670G>C	6.37:g.42214269C>G	ENSP00000362013:p.Trp890Cys					TRERF1_ENST00000372917.4_Missense_Mutation_p.W807C|TRERF1_ENST00000372922.4_Missense_Mutation_p.W890C|TRERF1_ENST00000354325.2_Missense_Mutation_p.W807C|TRERF1_ENST00000340840.2_Missense_Mutation_p.W807C	p.W910C			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		14	3298	-	Colorectal(47;0.196)		890			Interacts with CREBBP.|SANT.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.2730G>C	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781857	0.70222	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.17	5.17	0.71159	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.50627	D	0.000114	T	0.79581	0.4470	H	0.96015	3.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.995;0.995;0.998;0.999	D	0.86093	0.1551	10	0.87932	D	0	-8.6746	17.8122	0.88619	0.0:1.0:0.0:0.0	.	807;910;890;646;646	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	C	910;807;890;807;807	ENSP00000439689:W910C;ENSP00000362008:W807C;ENSP00000362013:W890C;ENSP00000339438:W807C;ENSP00000346285:W807C	ENSP00000339438:W807C	W	-	3	0	TRERF1	42322247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.265000	0.65519	2.579000	0.87056	0.655000	0.94253	TGG		0.383	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		10	93	0	0	0	1	0	10	93				
NAALADL2	254827	broad.mit.edu	37	3	175520802	175520802	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:175520802C>G	ENST00000454872.1	+	14	2327	c.2199C>G	c.(2197-2199)ctC>ctG	p.L733L		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	733						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAAACATCCTCTACCACCTTG	0.373																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(2197-2199)ctC>ctG		N-acetylated alpha-linked acidic dipeptidase-like 2							42.0	39.0	40.0					3																	175520802		1807	4071	5878	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175520802C>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2199C>G	3.37:g.175520802C>G							p.L733L	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	14	2327	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	733					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.2199C>G	CCDS46960.1																																																																																				0.373	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		8	40	0	0	0	1	0	8	40				
CASC5	57082	broad.mit.edu	37	15	40949621	40949621	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40949621G>T	ENST00000346991.5	+	25	7131	c.6741G>T	c.(6739-6741)aaG>aaT	p.K2247N	CASC5_ENST00000399668.2_Missense_Mutation_p.K2221N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2247	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGTATTTAAAGAGATGGGGAC	0.363																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(6739-6741)aaG>aaT		cancer susceptibility candidate 5							89.0	86.0	87.0					15																	40949621		1820	4096	5916	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40949621G>T	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6741G>T	15.37:g.40949621G>T	ENSP00000335463:p.Lys2247Asn					CASC5_ENST00000399668.2_Missense_Mutation_p.K2221N	p.K2247N			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	25	7131	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	2247			Necessary for kinetochore localization and for interaction with NSL1 and DSN1.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.6741G>T	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538598	0.45176	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.05855	3.38;3.38	5.77	3.76	0.43208	.	0.569328	0.15946	U	0.236968	T	0.07369	0.0186	L	0.50333	1.59	0.31030	N	0.71749	P;P	0.50528	0.936;0.936	B;B	0.42555	0.391;0.391	T	0.11421	-1.0588	10	0.59425	D	0.04	.	6.1846	0.20490	0.0951:0.0:0.6388:0.2661	.	2221;2247	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	N	2247;2221	ENSP00000335463:K2247N;ENSP00000382576:K2221N	ENSP00000335463:K2247N	K	+	3	2	CASC5	38736913	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.571000	0.23669	1.449000	0.47699	-0.145000	0.13849	AAG		0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		30	119	1	0	2.46105e-21	1	2.63491e-21	30	119				
REG1P	5969	broad.mit.edu	37	2	79363990	79363990	+	RNA	SNP	A	A	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:79363990A>T	ENST00000444841.1	-	0	348									regenerating islet-derived 1 pseudogene																		GAAGCCACAAAGGCACCCTCA	0.527																																						ENST00000444841.1																			0																																																			5969							g.chr2:79363990A>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.79363990A>T														0	348	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.527	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		11	39	0	0	0	1	0	11	39				
PPM1H	57460	broad.mit.edu	37	12	63226041	63226041	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:63226041C>G	ENST00000228705.6	-	2	564	c.264G>C	c.(262-264)aaG>aaC	p.K88N		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	88							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TGTGTGTGCTCTTCCCGGCAT	0.542																																						ENST00000228705.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18						c.(262-264)aaG>aaC		protein phosphatase, Mg2+/Mn2+ dependent, 1H							49.0	48.0	49.0					12																	63226041		1954	4159	6113	SO:0001583	missense	57460						phosphoprotein phosphatase activity	g.chr12:63226041C>G	AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.264G>C	12.37:g.63226041C>G	ENSP00000228705:p.Lys88Asn						p.K88N	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)	2	564	-			88					B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	ENST00000228705.6	37	c.264G>C	CCDS44934.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647887	0.67358	.	.	ENSG00000111110	ENST00000228705	T	0.57752	0.38	5.64	3.81	0.43845	Protein phosphatase 2C-like (3);	0.149749	0.56097	D	0.000027	T	0.71307	0.3324	M	0.85373	2.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.73522	-0.3956	9	.	.	.	.	8.439	0.32803	0.0:0.769:0.0:0.231	.	88	Q9ULR3	PPM1H_HUMAN	N	88	ENSP00000228705:K88N	.	K	-	3	2	PPM1H	61512308	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.563000	0.36364	1.395000	0.46643	0.650000	0.86243	AAG		0.542	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406760.2	NM_020700		7	14	0	0	0	1	0	7	14				
FASTKD3	79072	broad.mit.edu	37	5	7867058	7867058	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:7867058C>G	ENST00000264669.5	-	2	1275	c.1139G>C	c.(1138-1140)aGa>aCa	p.R380T	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	380					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R380K(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AATCAGTTCTCTACTGCAGTA	0.438																																						ENST00000264669.5																			1	Substitution - Missense(1)	p.R380K(1)	lung(1)	breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1138-1140)aGa>aCa		FAST kinase domains 3							65.0	66.0	66.0					5																	7867058		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867058C>G	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1139G>C	5.37:g.7867058C>G	ENSP00000264669:p.Arg380Thr					MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	p.R380T	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			2	1275	-			380					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1139G>C	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	4.430	0.079477	0.08533	.	.	ENSG00000124279	ENST00000264669	T	0.15603	2.41	5.13	2.14	0.27477	.	0.358003	0.30969	N	0.008514	T	0.14657	0.0354	M	0.72118	2.19	0.09310	N	1	B	0.18968	0.032	B	0.15052	0.012	T	0.21109	-1.0255	10	0.22109	T	0.4	-10.2714	2.8555	0.05571	0.0:0.4084:0.2347:0.3568	.	380	Q14CZ7	FAKD3_HUMAN	T	380	ENSP00000264669:R380T	ENSP00000264669:R380T	R	-	2	0	FASTKD3	7920058	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.154000	0.16343	0.731000	0.32448	0.655000	0.94253	AGA		0.438	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		25	78	0	0	0	1	0	25	78				
ZNF626	199777	broad.mit.edu	37	19	20807837	20807837	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:20807837C>T	ENST00000601440.1	-	4	992	c.846G>A	c.(844-846)aaG>aaA	p.K282K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	282					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.P284fs*5(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGGGTTTCTTTTCCGTAT	0.388																																						ENST00000601440.1																			1	Insertion - Frameshift(1)	p.P284fs*5(1)	pancreas(1)	breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(844-846)aaG>aaA		zinc finger protein 626							67.0	72.0	70.0					19																	20807837		2195	4300	6495	SO:0001819	synonymous_variant	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807837C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.846G>A	19.37:g.20807837C>T						CTC-513N18.7_ENST00000595094.1_lincRNA	p.K282K	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	992	-			282					Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	c.846G>A	CCDS42535.1																																																																																				0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		74	144	0	0	0	1	0	74	144				
CDK15	65061	broad.mit.edu	37	2	202671425	202671425	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:202671425G>C	ENST00000374598.4	+	1	38	c.38G>C	c.(37-39)gGa>gCa	p.G13A	CDK15_ENST00000488419.1_3'UTR|Y_RNA_ENST00000365267.1_RNA|CDK15_ENST00000410091.3_Intron|CDK15_ENST00000260967.2_Intron|CDK15_ENST00000450471.2_Missense_Mutation_p.G13A|CDK15_ENST00000434439.1_Missense_Mutation_p.G13A			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	13							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GTACAGCCTGGATGCAGCTGC	0.537																																						ENST00000450471.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(37-39)gGa>gCa		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)						35.0	33.0	34.0					2																	202671425		876	1991	2867	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202671425G>C	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.38G>C	2.37:g.202671425G>C	ENSP00000363726:p.Gly13Ala					CDK15_ENST00000434439.1_Missense_Mutation_p.G13A|CDK15_ENST00000260967.2_Intron|CDK15_ENST00000410091.3_Intron|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000374598.4_Missense_Mutation_p.G13A	p.G13A	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN			1	124	+			13					A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.38G>C		.	.	.	.	.	.	.	.	.	.	G	15.20	2.761470	0.49468	.	.	ENSG00000138395	ENST00000450471;ENST00000434439;ENST00000374598	T;T;T	0.68181	-0.31;-0.3;-0.31	5.74	4.86	0.63082	.	.	.	.	.	T	0.72748	0.3499	.	.	.	0.32675	N	0.516227	D;P	0.59357	0.985;0.93	P;P	0.54372	0.75;0.553	T	0.79155	-0.1920	8	0.48119	T	0.1	.	11.5658	0.50805	0.0827:0.0:0.9173:0.0	.	13;13	Q96Q40-2;F8W6H8	.;.	A	13	ENSP00000406472:G13A;ENSP00000412775:G13A;ENSP00000363726:G13A	ENSP00000363726:G13A	G	+	2	0	CDK15	202379670	1.000000	0.71417	0.813000	0.32504	0.978000	0.69477	3.783000	0.55409	1.427000	0.47276	0.655000	0.94253	GGA		0.537	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			11	25	0	0	0	1	0	11	25				
PRPF39	55015	broad.mit.edu	37	14	45584108	45584108	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:45584108C>G	ENST00000355765.6	+	14	2172	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	668	Poly-Pro.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TCCTCCCCCTCCAACCTGATG	0.323																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(2002-2004)Cca>Gca		pre-mRNA processing factor 39							100.0	98.0	99.0					14																	45584108		2203	4296	6499	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45584108C>G	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.2002C>G	14.37:g.45584108C>G	ENSP00000348010:p.Pro668Ala						p.P668A	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			14	2172	+			668			Poly-Pro.		Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.2002C>G	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662558	0.29515	.	.	ENSG00000185246	ENST00000355765	T	0.47869	0.83	5.71	5.71	0.89125	.	0.106971	0.64402	D	0.000004	T	0.28732	0.0712	N	0.22421	0.69	0.42139	D	0.9915	B	0.28971	0.229	B	0.27608	0.081	T	0.14924	-1.0455	10	0.12430	T	0.62	-10.2561	7.8625	0.29517	0.0:0.8052:0.0:0.1948	.	668	Q86UA1	PRP39_HUMAN	A	668	ENSP00000348010:P668A	ENSP00000348010:P668A	P	+	1	0	PRPF39	44653858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.708000	0.25719	2.688000	0.91661	0.655000	0.94253	CCA		0.323	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			14	44	0	0	0	1	0	14	44				
DHX15	1665	broad.mit.edu	37	4	24550530	24550530	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:24550530C>T	ENST00000336812.4	-	6	1352	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	399	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CTCAAAAATGCGTTGCTGCTG	0.363																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1195-1197)cGc>cAc		DEAH (Asp-Glu-Ala-His) box helicase 15							107.0	97.0	101.0					4																	24550530		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24550530C>T	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1196G>A	4.37:g.24550530C>T	ENSP00000336741:p.Arg399His						p.R399H	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			6	1352	-		Breast(46;0.0503)	399			Helicase C-terminal.		Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.1196G>A	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010435	0.93346	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.74737	-0.87	5.63	5.63	0.86233	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.91055	0.4881	10	0.87932	D	0	-7.7915	20.0368	0.97565	0.0:1.0:0.0:0.0	.	399	O43143	DHX15_HUMAN	H	399;388	ENSP00000336741:R399H	ENSP00000336741:R399H	R	-	2	0	DHX15	24159628	1.000000	0.71417	0.871000	0.34182	0.987000	0.75469	5.542000	0.67218	2.818000	0.97014	0.591000	0.81541	CGC		0.363	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		17	75	0	0	0	1	0	17	75				
TRANK1	9881	broad.mit.edu	37	3	36873775	36873775	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:36873775G>A	ENST00000429976.2	-	21	7414	c.7167C>T	c.(7165-7167)ttC>ttT	p.F2389F	TRANK1_ENST00000301807.6_Silent_p.F1839F|TRANK1_ENST00000428977.2_Silent_p.F1839F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2389							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGACATTCATGAAACGGAAAA	0.493																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(7165-7167)ttC>ttT		tetratricopeptide repeat and ankyrin repeat containing 1							98.0	103.0	101.0					3																	36873775		1896	4128	6024	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873775G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7167C>T	3.37:g.36873775G>A						TRANK1_ENST00000428977.2_Silent_p.F1839F|TRANK1_ENST00000301807.6_Silent_p.F1839F	p.F2389F			O15050	TRNK1_HUMAN			21	7414	-			2389					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.7167C>T	CCDS46789.2																																																																																				0.493	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		34	89	0	0	0	1	0	34	89				
AHNAK	79026	broad.mit.edu	37	11	62287462	62287462	+	Silent	SNP	G	G	A	rs199992585		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:62287462G>A	ENST00000378024.4	-	5	14701	c.14427C>T	c.(14425-14427)atC>atT	p.I4809I	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4809					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCGAGACATCGATGTCGGCCT	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14425-14427)atC>atT		AHNAK nucleoprotein							186.0	181.0	182.0					11																	62287462		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287462G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14427C>T	11.37:g.62287462G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.I4809I	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14701	-		Melanoma(852;0.155)	4809					A1A586	Silent	SNP	ENST00000378024.4	37	c.14427C>T	CCDS31584.1																																																																																				0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		120	288	0	0	0	1	0	120	288				
POM121L12	285877	broad.mit.edu	37	7	53103896	53103896	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:53103896C>G	ENST00000408890.4	+	1	548	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	178										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGGGAGACTCTGCTGGGGGC	0.701																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(532-534)Ctg>Gtg		POM121 transmembrane nucleoporin-like 12							23.0	27.0	26.0					7																	53103896		1885	4097	5982	SO:0001583	missense	285877							g.chr7:53103896C>G		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.532C>G	7.37:g.53103896C>G	ENSP00000386133:p.Leu178Val						p.L178V	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	548	+			178					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.532C>G	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.389237	0.00200	.	.	ENSG00000221900	ENST00000408890	T	0.12147	2.71	2.05	0.158	0.14942	.	.	.	.	.	T	0.02848	0.0085	N	0.01048	-1.04	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.43261	-0.9402	9	0.02654	T	1	.	3.3424	0.07123	0.181:0.3011:0.5179:0.0	.	178	Q8N7R1	P1L12_HUMAN	V	178	ENSP00000386133:L178V	ENSP00000386133:L178V	L	+	1	2	POM121L12	53071390	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	0.280000	0.18790	0.029000	0.15352	-1.083000	0.02208	CTG		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		10	29	0	0	0	1	0	10	29				
CKB	1152	broad.mit.edu	37	14	103987706	103987706	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:103987706C>T	ENST00000348956.2	-	5	904	c.547G>A	c.(547-549)Gag>Aag	p.E183K		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	183	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	TGCTGCTGCTCCGCCTCCGTC	0.716																																					Esophageal Squamous(186;2492 2823 49929 50127)	ENST00000348956.2																			0				lung(2)|prostate(1)	3						c.(547-549)Gag>Aag		creatine kinase, brain	Creatine(DB00148)						50.0	37.0	42.0					14																	103987706		2201	4298	6499	SO:0001583	missense	1152				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr14:103987706C>T		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.547G>A	14.37:g.103987706C>T	ENSP00000299198:p.Glu183Lys						p.E183K	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	Epithelial(46;0.14)		5	904	-		Melanoma(154;0.155)	183			Phosphagen kinase C-terminal.		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	c.547G>A	CCDS9981.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010990	0.93346	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553878	T;T	0.12147	2.71;2.71	4.39	4.39	0.52855	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	M	0.81942	2.565	0.80722	D	1	P	0.38504	0.634	B	0.40101	0.319	T	0.17471	-1.0368	10	0.66056	D	0.02	-1.1469	17.0226	0.86438	0.0:1.0:0.0:0.0	.	183	P12277	KCRB_HUMAN	K	183;148;183	ENSP00000299198:E183K;ENSP00000451904:E183K	ENSP00000299198:E183K	E	-	1	0	CKB	103057459	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.130000	0.77235	1.993000	0.58246	0.442000	0.29010	GAG		0.716	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			6	21	0	0	0	1	0	6	21				
INPPL1	3636	broad.mit.edu	37	11	71941167	71941167	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:71941167G>A	ENST00000298229.2	+	9	1146	c.942G>A	c.(940-942)gtG>gtA	p.V314V	INPPL1_ENST00000541756.1_Silent_p.V72V|INPPL1_ENST00000538751.1_Silent_p.V72V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	314					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCCTACAGGTGAAGCTAGATG	0.617																																						ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(940-942)gtG>gtA		inositol polyphosphate phosphatase-like 1							70.0	63.0	66.0					11																	71941167		2200	4293	6493	SO:0001819	synonymous_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71941167G>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.942G>A	11.37:g.71941167G>A						INPPL1_ENST00000541756.1_Silent_p.V72V|INPPL1_ENST00000538751.1_Silent_p.V72V	p.V314V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			9	1146	+			314					B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	c.942G>A	CCDS8213.1																																																																																				0.617	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		6	37	0	0	0	1	0	6	37				
GNB3	2784	broad.mit.edu	37	12	6954844	6954844	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:6954844C>T	ENST00000229264.3	+	10	1199	c.794C>T	c.(793-795)tCc>tTc	p.S265F	GNB3_ENST00000435982.2_Missense_Mutation_p.S264F|CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	265					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)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ATCTGCTTCTCCCACGAGAGC	0.597																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(793-795)tCc>tTc		guanine nucleotide binding protein (G protein), beta polypeptide 3							149.0	137.0	141.0					12																	6954844		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954844C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.794C>T	12.37:g.6954844C>T	ENSP00000229264:p.Ser265Phe					GNB3_ENST00000435982.2_Missense_Mutation_p.S264F|CDCA3_ENST00000422785.3_3'UTR|CDCA3_ENST00000604599.1_5'UTR	p.S265F	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			10	1199	+			265					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.794C>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695692	0.48202	.	.	ENSG00000111664	ENST00000229264;ENST00000435982;ENST00000537035	T;T;T	0.01397	4.95;4.95;4.94	4.49	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.265230	0.39083	N	0.001472	T	0.06781	0.0173	M	0.83012	2.62	0.45307	D	0.998305	P;B	0.39443	0.674;0.127	P;B	0.48952	0.596;0.114	T	0.02059	-1.1221	10	0.87932	D	0	-1.8903	17.3725	0.87382	0.0:1.0:0.0:0.0	.	264;265	E9PCP0;P16520	.;GBB3_HUMAN	F	265;264;224	ENSP00000229264:S265F;ENSP00000414734:S264F;ENSP00000445967:S224F	ENSP00000229264:S265F	S	+	2	0	GNB3	6825105	1.000000	0.71417	0.601000	0.28877	0.045000	0.14185	6.086000	0.71352	2.313000	0.78055	0.561000	0.74099	TCC		0.597	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		37	161	0	0	0	1	0	37	161				
P2RY1	5028	broad.mit.edu	37	3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108.0	110.0	110.0					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val						p.A304V	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		6	172	0	0	0	1	0	6	172				
DCST1	149095	broad.mit.edu	37	1	155019772	155019772	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:155019772G>A	ENST00000295542.1	+	14	1692	c.1596G>A	c.(1594-1596)atG>atA	p.M532I	DCST1_ENST00000423025.2_Missense_Mutation_p.M507I|DCST1_ENST00000392480.1_Missense_Mutation_p.M532I|DCST1_ENST00000368419.2_Missense_Mutation_p.M532I|RP11-307C12.11_ENST00000452962.1_RNA	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	532						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGACAGTGATGGAATCAAACA	0.527																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(1594-1596)atG>atA		DC-STAMP domain containing 1							80.0	78.0	78.0					1																	155019772		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155019772G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1596G>A	1.37:g.155019772G>A	ENSP00000295542:p.Met532Ile					DCST1_ENST00000368419.2_Missense_Mutation_p.M532I|DCST1_ENST00000423025.2_Missense_Mutation_p.M507I|DCST1_ENST00000392480.1_Missense_Mutation_p.M532I	p.M532I	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		14	1692	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		532					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.1596G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556061	0.27827	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.88	3.96	0.45880	Dendritic cell-specific transmembrane protein-like (1);	0.852430	0.10465	N	0.671493	T	0.03178	0.0093	N	0.02539	-0.55	0.20307	N	0.999915	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.40961	-0.9535	10	0.16420	T	0.52	-7.8052	8.3967	0.32561	0.1031:0.0:0.8969:0.0	.	507;532	E9PHV3;Q5T197	.;DCST1_HUMAN	I	532;532;507;532	ENSP00000295542:M532I;ENSP00000376271:M532I;ENSP00000387369:M507I;ENSP00000357404:M532I	ENSP00000295542:M532I	M	+	3	0	DCST1	153286396	1.000000	0.71417	0.786000	0.31890	0.973000	0.67179	1.044000	0.30329	2.688000	0.91661	0.655000	0.94253	ATG		0.527	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		11	42	0	0	0	1	0	11	42				
TPRX1	284355	broad.mit.edu	37	19	48305262	48305262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:48305262G>A	ENST00000322175.3	-	2	1161	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	TPRX1_ENST00000535759.1_Nonsense_Mutation_p.Q433*|TPRX1_ENST00000543508.1_Nonsense_Mutation_p.Q326*	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	336						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TCGGGGCTCTGAGGCCATAAG	0.622																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(1297-1299)Cag>Tag		tetra-peptide repeat homeobox 1							44.0	46.0	45.0					19																	48305262		2203	4300	6503	SO:0001587	stop_gained	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305262G>A		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1006C>T	19.37:g.48305262G>A	ENSP00000323455:p.Gln336*					TPRX1_ENST00000322175.3_Nonsense_Mutation_p.Q336*|TPRX1_ENST00000543508.1_Nonsense_Mutation_p.Q326*	p.Q433*			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	1296	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	336					A5D8Y3|B2RPL5	Nonsense_Mutation	SNP	ENST00000322175.3	37	c.1297C>T	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	g	10.26	1.300122	0.23650	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	.	.	.	1.27	-1.1	0.09872	.	.	.	.	.	.	.	.	.	.	.	0.43971	D	0.996658	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	8.7592	0.34665	0.0:0.4363:0.5637:0.0	.	.	.	.	X	336;433;326	.	ENSP00000323455:Q336X	Q	-	1	0	TPRX1	52997074	0.139000	0.22563	0.000000	0.03702	0.000000	0.00434	1.720000	0.38022	-0.766000	0.04639	-3.589000	0.00028	CAG		0.622	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		13	46	0	0	0	1	0	13	46				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	15	0	0	0	1	0	3	15				
ANKRD26	22852	broad.mit.edu	37	10	27324114	27324114	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:27324114C>T	ENST00000376087.4	-	24	3430	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E646K|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1105K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1088					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AAAGTCTTTTCTCTGAGGGCA	0.348																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3265-3267)Gaa>Aaa		ankyrin repeat domain 26							123.0	119.0	120.0					10																	27324114		1837	4092	5929	SO:0001583	missense	22852					centrosome		g.chr10:27324114C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3265G>A	10.37:g.27324114C>T	ENSP00000365255:p.Glu1089Lys					ANKRD26_ENST00000376070.3_Missense_Mutation_p.E646K|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1105K	p.E1089K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	3430	-			1088					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3265G>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827468	0.71143	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.19394	2.15;2.15;2.15	5.43	2.48	0.30137	.	0.106087	0.39020	N	0.001486	T	0.38665	0.1049	M	0.64676	1.99	0.41309	D	0.98709	D;D;P	0.71674	0.998;0.997;0.894	D;D;B	0.80764	0.994;0.985;0.437	T	0.06826	-1.0805	10	0.59425	D	0.04	.	9.0046	0.36104	0.0:0.6416:0.2801:0.0783	.	1089;1088;1105	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	K	646;1089;1105	ENSP00000365238:E646K;ENSP00000365255:E1089K;ENSP00000405112:E1105K	ENSP00000365238:E646K	E	-	1	0	ANKRD26	27364120	1.000000	0.71417	0.227000	0.23927	0.885000	0.51271	6.608000	0.74168	0.235000	0.21160	0.591000	0.81541	GAA		0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			53	209	0	0	0	1	0	53	209				
C12orf60	144608	broad.mit.edu	37	12	14976313	14976313	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:14976313C>T	ENST00000330828.2	+	2	648	c.444C>T	c.(442-444)atC>atT	p.I148I	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	148										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AATTCCCCATCATGAATCTTC	0.423																																						ENST00000330828.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						c.(442-444)atC>atT		chromosome 12 open reading frame 60							90.0	90.0	90.0					12																	14976313		2203	4300	6503	SO:0001819	synonymous_variant	144608							g.chr12:14976313C>T	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.444C>T	12.37:g.14976313C>T						C12orf60_ENST00000527783.1_Intron	p.I148I	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN			2	648	+			148					A8K1M7|Q5XKK8|Q8IXY2	Silent	SNP	ENST00000330828.2	37	c.444C>T	CCDS8667.1																																																																																				0.423	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		27	72	0	0	0	1	0	27	72				
PRKAA1	5562	broad.mit.edu	37	5	40762911	40762911	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:40762911C>G	ENST00000397128.2	-	9	1657	c.1649G>C	c.(1648-1650)tGt>tCt	p.C550S	PRKAA1_ENST00000354209.3_Missense_Mutation_p.C565S	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	550					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[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)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TAGATTTGCACACATCTCAAA	0.363																																						ENST00000397128.2																			0				breast(1)	1						c.(1648-1650)tGt>tCt		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						54.0	53.0	53.0					5																	40762911		1833	4085	5918	SO:0001583	missense	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40762911C>G		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1649G>C	5.37:g.40762911C>G	ENSP00000380317:p.Cys550Ser					PRKAA1_ENST00000354209.3_Missense_Mutation_p.C565S	p.C550S	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			9	1657	-			550					A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	37	c.1649G>C	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673836	0.88445	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	T;T	0.79749	-1.17;-1.3	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.81914	0.989;0.995	D	0.89063	0.3464	10	0.87932	D	0	-16.4332	20.3465	0.98790	0.0:1.0:0.0:0.0	.	550;565	Q13131;Q13131-2	AAPK1_HUMAN;.	S	550;565	ENSP00000380317:C550S;ENSP00000346148:C565S	ENSP00000346148:C565S	C	-	2	0	AC008810.1	40798668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.798000	0.96311	0.655000	0.94253	TGT		0.363	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		20	71	0	0	0	1	0	20	71				
CCPG1	9236	broad.mit.edu	37	15	55681565	55681565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:55681565C>A	ENST00000310958.6	-	2	356	c.58G>T	c.(58-60)Gag>Tag	p.E20*	CCPG1_ENST00000425574.3_Nonsense_Mutation_p.E20*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.E20*|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.E20*|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	20	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TATCATACCTCATGACTGATG	0.313																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(58-60)Gag>Tag		cell cycle progression 1							60.0	56.0	57.0					15																	55681565		1822	4078	5900	SO:0001587	stop_gained	9236				cell cycle	integral to membrane		g.chr15:55681565C>A	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.58G>T	15.37:g.55681565C>A	ENSP00000311656:p.Glu20*					DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.E20*|CCPG1_ENST00000425574.3_Nonsense_Mutation_p.E20*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.E20*	p.E20*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	2	356	-			20			Interaction with MCF2L and SRC (By similarity).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP	ENST00000310958.6	37	c.58G>T	CCDS42039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.294329|5.294329	0.95546|0.95546	.|.	.|.	ENSG00000256061|ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574|ENST00000420792	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74673	.|0.3747	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81230	.|-0.1027	.|4	0.87932|0.87932	D|D	0|0	.|.	15.4225|15.4225	0.75025|0.75025	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	20|320	.|.	ENSP00000311656:E20X|ENSP00000392005:M320I	E|M	-|-	1|3	0|0	DYX1C1|DYX1C1	53468857|53468857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.014000|5.014000	0.64029|0.64029	2.480000|2.480000	0.83734|0.83734	0.555000|0.555000	0.69702|0.69702	GAG|ATG		0.313	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		17	65	1	0	5.3912e-06	1	5.51673e-06	17	65				
RFX7	64864	broad.mit.edu	37	15	56388287	56388287	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:56388287C>T	ENST00000559447.2	-	9	1619	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	RFX7_ENST00000422057.1_Missense_Mutation_p.E450K|RFX7_ENST00000423270.1_Missense_Mutation_p.E547K|RFX7_ENST00000317318.6_Missense_Mutation_p.E547K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	450					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACAGGATGCTCATCTGATGAT	0.532																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1639-1641)Gag>Aag		regulatory factor X, 7							59.0	57.0	57.0					15																	56388287		1990	4158	6148	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388287C>T			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1348G>A	15.37:g.56388287C>T	ENSP00000453281:p.Glu450Lys					RFX7_ENST00000422057.1_Missense_Mutation_p.E450K|RFX7_ENST00000559447.2_Missense_Mutation_p.E450K|RFX7_ENST00000317318.6_Missense_Mutation_p.E547K	p.E547K	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1638	-			450					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1639G>A		.	.	.	.	.	.	.	.	.	.	C	18.02	3.529356	0.64860	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.54675	0.57;0.56;0.56	5.09	5.09	0.68999	.	0.082475	0.49916	D	0.000122	T	0.37019	0.0988	N	0.14661	0.345	0.47214	D	0.999352	B;P	0.43750	0.421;0.816	B;B	0.37047	0.156;0.24	T	0.41893	-0.9483	10	0.52906	T	0.07	-11.1921	17.4716	0.87647	0.0:1.0:0.0:0.0	.	450;450	Q2KHR2;C9JU50	RFX7_HUMAN;.	K	450;547;547	ENSP00000387504:E450K;ENSP00000313299:E547K;ENSP00000397644:E547K	ENSP00000313299:E547K	E	-	1	0	RFX7	54175579	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.356000	0.66052	2.336000	0.79503	0.655000	0.94253	GAG		0.532	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		12	43	0	0	0	1	0	12	43				
HOXB6	3216	broad.mit.edu	37	17	46674031	46674031	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:46674031G>A	ENST00000484302.2	-	3	1041	c.419C>T	c.(418-420)tCc>tTc	p.S140F	HOXB-AS3_ENST00000480872.1_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.S140F|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB5_ENST00000239151.5_5'Flank|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB6_ENST00000490419.1_5'Flank|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000487849.3_RNA			P17509	HXB6_HUMAN	homeobox B6	140					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCCAAAGGAGGAACCTGTTAC	0.637																																						ENST00000484302.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(418-420)tCc>tTc		homeobox B6							46.0	46.0	46.0					17																	46674031		2203	4300	6503	SO:0001583	missense	3216				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46674031G>A		CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"""Homeoboxes / ANTP class : HOXL subclass"""	5117	protein-coding gene	gene with protein product		142961	"""homeo box B6"""	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.419C>T	17.37:g.46674031G>A	ENSP00000420009:p.Ser140Phe					HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.S140F	p.S140F			P17509	HXB6_HUMAN			3	1041	-			140					A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Missense_Mutation	SNP	ENST00000484302.2	37	c.419C>T	CCDS11531.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893382	0.72524	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	D;D	0.95821	-3.82;-3.82	4.67	3.7	0.42460	Homeodomain-related (1);Homeodomain-like (1);	0.143817	0.48286	D	0.000194	D	0.92499	0.7618	L	0.52573	1.65	0.50467	D	0.999875	P	0.47302	0.893	B	0.40165	0.321	D	0.91296	0.5063	10	0.46703	T	0.11	.	12.422	0.55525	0.0827:0.0:0.9172:0.0	.	140	P17509	HXB6_HUMAN	F	140	ENSP00000420009:S140F;ENSP00000225648:S140F	ENSP00000225648:S140F	S	-	2	0	HOXB6	44029030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.779000	0.85648	1.197000	0.43143	0.563000	0.77884	TCC		0.637	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358146.2			19	68	0	0	0	1	0	19	68				
CCDC8	83987	broad.mit.edu	37	19	46914652	46914652	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46914652C>T	ENST00000307522.3	-	1	2189	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	472					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGACCTGTTTCCGGGCCCTGG	0.612																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1414-1416)cgG>cgA		coiled-coil domain containing 8							55.0	59.0	57.0					19																	46914652		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914652C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1416G>A	19.37:g.46914652C>T							p.R472R	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2189	-			472					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1416G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427315	0.25726	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.98	1.7	0.24286	.	.	.	.	.	T	0.32645	0.0836	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11084	-1.0602	5	0.05436	T	0.98	-6.7605	11.7044	0.51590	0.0:0.4563:0.5437:0.0	.	.	.	.	E	319	.	ENSP00000441180:G319E	G	-	2	0	CCDC8	51606492	0.400000	0.25295	0.961000	0.40146	0.995000	0.86356	0.530000	0.23036	0.580000	0.29522	0.555000	0.69702	GGA		0.612	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		18	51	0	0	0	1	0	18	51				
SFMBT2	57713	broad.mit.edu	37	10	7423790	7423790	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:7423790G>A	ENST00000361972.4	-	2	161	c.71C>T	c.(70-72)tCa>tTa	p.S24L	SFMBT2_ENST00000397160.3_Missense_Mutation_p.S24L|SFMBT2_ENST00000397167.1_Missense_Mutation_p.S24L|SFMBT2_ENST00000379711.2_Missense_Mutation_p.S24L|SFMBT2_ENST00000379713.3_Missense_Mutation_p.S24L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	24					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCCATTAGCTGAGCCGAGACA	0.408																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(70-72)tCa>tTa		Scm-like with four mbt domains 2							127.0	121.0	123.0					10																	7423790		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7423790G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.71C>T	10.37:g.7423790G>A	ENSP00000355109:p.Ser24Leu					SFMBT2_ENST00000397167.1_Missense_Mutation_p.S24L|SFMBT2_ENST00000397160.3_Missense_Mutation_p.S24L|SFMBT2_ENST00000379711.2_Missense_Mutation_p.S24L|SFMBT2_ENST00000379713.3_Missense_Mutation_p.S24L	p.S24L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			2	161	-			24					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.71C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515142	0.44763	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.34472	2.39;2.39;1.76;1.36;1.36	5.41	5.41	0.78517	.	0.648335	0.12871	N	0.432241	T	0.30634	0.0771	L	0.40543	1.245	0.24623	N	0.993668	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15464	-1.0436	10	0.12430	T	0.62	.	14.7862	0.69806	0.0:0.0:1.0:0.0	.	24;24	Q5T981;Q5VUG0	.;SMBT2_HUMAN	L	24	ENSP00000355109:S24L;ENSP00000380353:S24L;ENSP00000369035:S24L;ENSP00000369033:S24L;ENSP00000380346:S24L	ENSP00000355109:S24L	S	-	2	0	SFMBT2	7463796	0.938000	0.31826	0.430000	0.26722	0.016000	0.09150	2.265000	0.43311	2.553000	0.86117	0.650000	0.86243	TCA		0.408	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		11	59	0	0	0	1	0	11	59				
DNM3	26052	broad.mit.edu	37	1	172013590	172013590	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:172013590C>T	ENST00000355305.5	+	9	1351	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	DNM3_ENST00000358155.4_Silent_p.I398I|DNM3_ENST00000367733.2_Silent_p.I398I|DNM3_ENST00000520906.1_Silent_p.I398I|DNM3_ENST00000367731.1_Silent_p.I398I			Q9UQ16	DYN3_HUMAN	dynamin 3	398					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TACATGGTATCAGGCAAGTGA	0.338																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1192-1194)atC>atT		dynamin 3							57.0	53.0	54.0					1																	172013590		1833	4094	5927	SO:0001819	synonymous_variant	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172013590C>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1194C>T	1.37:g.172013590C>T						DNM3_ENST00000367733.2_Silent_p.I398I|DNM3_ENST00000520906.1_Silent_p.I398I|DNM3_ENST00000367731.1_Silent_p.I398I|DNM3_ENST00000355305.5_Silent_p.I398I	p.I398I	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			9	1370	+			398					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37	c.1194C>T																																																																																					0.338	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		5	15	0	0	0	1	0	5	15				
TNKS	8658	broad.mit.edu	37	8	9567785	9567785	+	Intron	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:9567785C>G	ENST00000310430.6	+	11	1775				TNKS_ENST00000518281.1_Intron|TNKS_ENST00000520408.1_Missense_Mutation_p.L602V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase						mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GCCAGCTGCTCTTAACACTGC	0.433																																						ENST00000520408.1																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1804-1806)Ctt>Gtt		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							45.0	37.0	40.0					8																	9567785		692	1591	2283	SO:0001627	intron_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9567785C>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1749+55C>G	8.37:g.9567785C>G						TNKS_ENST00000518281.1_Intron|TNKS_ENST00000310430.6_Intron	p.L602V			O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	11	1830	+			595					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1804C>G	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	2.776	-0.254635	0.05829	.	.	ENSG00000173273	ENST00000520408	T	0.62498	0.02	3.72	-1.46	0.08800	.	.	.	.	.	T	0.61874	0.2382	.	.	.	0.09310	N	1	D	0.58268	0.982	D	0.67548	0.952	T	0.54029	-0.8354	8	0.13470	T	0.59	.	5.1676	0.15094	0.0:0.4619:0.1461:0.392	.	602	E7EWY6	.	V	602	ENSP00000428299:L602V	ENSP00000428299:L602V	L	+	1	0	TNKS	9605195	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.250000	0.08830	-0.328000	0.08539	-0.137000	0.14449	CTT		0.433	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		9	31	0	0	0	1	0	9	31				
MS4A7	58475	broad.mit.edu	37	11	60150648	60150648	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:60150648C>G	ENST00000300184.3	+	2	230	c.34C>G	c.(34-36)Cac>Gac	p.H12D	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Missense_Mutation_p.H12D|MS4A7_ENST00000530234.2_Missense_Mutation_p.H12D|MS4A7_ENST00000534016.1_Missense_Mutation_p.H12D	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	12						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GGGGGTTTCTCACAGCTTTAC	0.448																																						ENST00000358246.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(34-36)Cac>Gac		membrane-spanning 4-domains, subfamily A, member 7							118.0	106.0	110.0					11																	60150648		2203	4300	6503	SO:0001583	missense	58475					integral to membrane	receptor activity	g.chr11:60150648C>G	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.34C>G	11.37:g.60150648C>G	ENSP00000300184:p.His12Asp					MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Missense_Mutation_p.H12D|MS4A7_ENST00000530234.2_Missense_Mutation_p.H12D|MS4A7_ENST00000534016.1_Missense_Mutation_p.H12D	p.H12D	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN			2	227	+			12					A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	c.34C>G	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	C	1.567	-0.535184	0.04082	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027;ENST00000530234	T;T;T;T;T;T	0.41400	3.31;2.61;2.61;2.6;2.81;1.0	3.8	0.599	0.17519	.	3.727020	0.00678	N	0.000673	T	0.12305	0.0299	N	0.00483	-1.445	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21075	-1.0256	10	0.12430	T	0.62	-5.0426	1.301	0.02079	0.14:0.2068:0.4235:0.2297	.	12;12;12	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	D	12	ENSP00000300184:H12D;ENSP00000350983:H12D;ENSP00000434637:H12D;ENSP00000433861:H12D;ENSP00000434819:H12D;ENSP00000433184:H12D	ENSP00000300184:H12D	H	+	1	0	MS4A7	59907224	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.015000	0.13355	0.122000	0.18314	-0.128000	0.14901	CAC		0.448	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			24	88	0	0	0	1	0	24	88				
UPF2	26019	broad.mit.edu	37	10	12006030	12006030	+	Missense_Mutation	SNP	T	T	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:12006030T>A	ENST00000356352.2	-	10	2635	c.2162A>T	c.(2161-2163)cAc>cTc	p.H721L	UPF2_ENST00000397053.2_Missense_Mutation_p.H721L|UPF2_ENST00000357604.5_Missense_Mutation_p.H721L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	721	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGTCCTCAGGTGAGATTCTGG	0.453																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(2161-2163)cAc>cTc		UPF2 regulator of nonsense transcripts homolog (yeast)							154.0	157.0	156.0					10																	12006030		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12006030T>A	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2162A>T	10.37:g.12006030T>A	ENSP00000348708:p.His721Leu					UPF2_ENST00000357604.5_Missense_Mutation_p.H721L|UPF2_ENST00000397053.2_Missense_Mutation_p.H721L	p.H721L			Q9HAU5	RENT2_HUMAN			10	2635	-		Renal(717;0.228)	721			MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2162A>T	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.829400	0.90955	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.21932	1.98;1.98;1.98	5.52	5.52	0.82312	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.45527	-0.9255	10	0.41790	T	0.15	.	15.6307	0.76906	0.0:0.0:0.0:1.0	.	721	Q9HAU5	RENT2_HUMAN	L	721	ENSP00000348708:H721L;ENSP00000350221:H721L;ENSP00000380244:H721L	ENSP00000348708:H721L	H	-	2	0	UPF2	12046036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.610000	0.82949	2.096000	0.63516	0.528000	0.53228	CAC		0.453	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			41	130	0	0	0	1	0	41	130				
TOLLIP	54472	broad.mit.edu	37	11	1309868	1309868	+	Missense_Mutation	SNP	C	C	T	rs144024538		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:1309868C>T	ENST00000317204.6	-	4	628	c.505G>A	c.(505-507)Gtc>Atc	p.V169I	TOLLIP_ENST00000542915.1_Missense_Mutation_p.V119I|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000263646.7_Missense_Mutation_p.V141I|TOLLIP_ENST00000525159.1_Missense_Mutation_p.V108I|TOLLIP_ENST00000527886.1_Missense_Mutation_p.V100I	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	169					autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		TAGGACATGACGAGGTTGATC	0.647																																						ENST00000527886.1																			0				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(298-300)Gtc>Atc		toll interacting protein							180.0	110.0	134.0					11																	1309868		2202	4298	6500	SO:0001583	missense	54472				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding	g.chr11:1309868C>T	AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.505G>A	11.37:g.1309868C>T	ENSP00000314733:p.Val169Ile					TOLLIP_ENST00000542915.1_Missense_Mutation_p.V119I|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000317204.6_Missense_Mutation_p.V169I|TOLLIP_ENST00000263646.7_Missense_Mutation_p.V141I|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000525159.1_Missense_Mutation_p.V108I	p.V100I			Q9H0E2	TOLIP_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)	4	678	-		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	169			C2.		B3KXC6|Q9H9E6|Q9UJ69	Missense_Mutation	SNP	ENST00000317204.6	37	c.298G>A	CCDS7723.1	.	.	.	.	.	.	.	.	.	.	c	15.10	2.732325	0.48939	.	.	ENSG00000078902	ENST00000317204;ENST00000527886;ENST00000525159;ENST00000263646;ENST00000542915;ENST00000382211;ENST00000530541	D;D;T;D;D;D	0.84730	-1.89;-1.89;0.86;-1.89;-1.89;-1.89	5.28	3.42	0.39159	C2 calcium/lipid-binding domain, CaLB (1);	0.063553	0.64402	N	0.000007	D	0.88343	0.6411	L	0.49126	1.545	0.53005	D	0.999962	D;P;D	0.89917	1.0;0.916;0.96	D;B;B	0.77557	0.99;0.38;0.361	D	0.85003	0.0901	10	0.30078	T	0.28	-37.4599	11.4373	0.50074	0.0:0.8538:0.0:0.1462	.	108;119;169	F2Z2Y8;B3KR28;Q9H0E2	.;.;TOLIP_HUMAN	I	169;100;108;141;119;200;119	ENSP00000314733:V169I;ENSP00000434035:V100I;ENSP00000432668:V108I;ENSP00000263646:V141I;ENSP00000437404:V119I;ENSP00000434494:V119I	ENSP00000263646:V141I	V	-	1	0	TOLLIP	1266444	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.565000	0.53798	0.621000	0.30232	0.550000	0.68814	GTC		0.647	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257162.2	NM_019009		3	24	0	0	0	1	0	3	24				
ZFP91	80829	broad.mit.edu	37	11	58384275	58384275	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:58384275G>A	ENST00000316059.6	+	10	1360	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E397K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	397					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCACACTGGCGAGAAGCCATT	0.423																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1189-1191)Gag>Aag		ZFP91 zinc finger protein							58.0	55.0	56.0					11																	58384275		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384275G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1189G>A	11.37:g.58384275G>A	ENSP00000339030:p.Glu397Lys					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.E397K	p.E397K	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			10	1360	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	397					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1189G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703190	0.96812	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.24350	1.86	5.92	5.92	0.95590	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.29822	-0.9999	10	0.87932	D	0	-20.5604	19.1058	0.93294	0.0:0.0:1.0:0.0	.	397;397	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	K	397	ENSP00000339030:E397K	ENSP00000374569:E397K	E	+	1	0	ZFP91	58140851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.822000	0.97130	0.650000	0.86243	GAG		0.423	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		7	36	0	0	0	1	0	7	36				
TMC7	79905	broad.mit.edu	37	16	19027917	19027917	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:19027917G>A	ENST00000304381.5	+	3	587	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	TMC7_ENST00000421369.3_Missense_Mutation_p.E43K|TMC7_ENST00000569532.1_Missense_Mutation_p.E153K	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	153					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCGCAGCATAGAAGGTATGCT	0.552																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(127-129)Gaa>Aaa		transmembrane channel-like 7							78.0	62.0	68.0					16																	19027917		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19027917G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.457G>A	16.37:g.19027917G>A	ENSP00000304710:p.Glu153Lys					TMC7_ENST00000304381.5_Missense_Mutation_p.E153K|TMC7_ENST00000569532.1_Missense_Mutation_p.E153K	p.E43K	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			3	685	+			153					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.127G>A	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839855	0.71488	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.55052	0.54;0.54	5.2	4.24	0.50183	.	0.308340	0.34531	N	0.003886	T	0.70928	0.3280	M	0.83012	2.62	0.44424	D	0.997347	D;B;P	0.89917	1.0;0.415;0.558	D;B;B	0.72075	0.976;0.217;0.314	T	0.71354	-0.4618	10	0.36615	T	0.2	.	11.1382	0.48388	0.0885:0.0:0.9115:0.0	.	153;153;153	B4DF02;Q7Z402;B3KSZ3	.;TMC7_HUMAN;.	K	153;43	ENSP00000304710:E153K;ENSP00000397081:E43K	ENSP00000304710:E153K	E	+	1	0	TMC7	18935418	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	6.636000	0.74299	1.181000	0.42912	0.448000	0.29417	GAA		0.552	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		12	26	0	0	0	1	0	12	26				
RSPO4	343637	broad.mit.edu	37	20	948705	948705	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:948705C>A	ENST00000217260.4	-	2	252	c.156G>T	c.(154-156)caG>caT	p.Q52H	RSPO4_ENST00000400634.2_Missense_Mutation_p.Q52H	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	52					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGAAGAGCCTCTGCTGGCAGG	0.637																																						ENST00000217260.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(154-156)caG>caT		R-spondin 4							51.0	54.0	53.0					20																	948705		1984	4170	6154	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:948705C>A	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.156G>T	20.37:g.948705C>A	ENSP00000217260:p.Gln52His					RSPO4_ENST00000400634.2_Missense_Mutation_p.Q52H	p.Q52H	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN			2	252	-			52					A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.156G>T	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304527	0.60305	.	.	ENSG00000101282	ENST00000217260;ENST00000400634	T;T	0.76316	-1.01;-1.01	4.93	-0.0188	0.13962	Growth factor, receptor (1);	0.502761	0.18521	N	0.138764	T	0.61565	0.2357	L	0.33624	1.015	0.25694	N	0.985656	B;B	0.17268	0.001;0.021	B;B	0.18263	0.003;0.021	T	0.51212	-0.8734	10	0.44086	T	0.13	-8.7796	5.1841	0.15174	0.0:0.306:0.4235:0.2705	.	52;52	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	H	52	ENSP00000217260:Q52H;ENSP00000383475:Q52H	ENSP00000217260:Q52H	Q	-	3	2	RSPO4	896705	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	0.281000	0.18810	0.438000	0.26450	0.563000	0.77884	CAG		0.637	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		20	81	1	0	1.96292e-10	1	2.05651e-10	20	81				
NUP153	9972	broad.mit.edu	37	6	17626393	17626393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:17626393G>A	ENST00000262077.2	-	19	3546	c.3547C>T	c.(3547-3549)Caa>Taa	p.Q1183*	NUP153_ENST00000537253.1_Nonsense_Mutation_p.Q1214*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1183					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTGCACCTTGATCTGTAAGA	0.388																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(3547-3549)Caa>Taa		nucleoporin 153kDa							35.0	38.0	37.0					6																	17626393		2203	4300	6503	SO:0001587	stop_gained	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17626393G>A	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3547C>T	6.37:g.17626393G>A	ENSP00000262077:p.Gln1183*					NUP153_ENST00000537253.1_Nonsense_Mutation_p.Q1214*	p.Q1183*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		19	3546	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1183					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Nonsense_Mutation	SNP	ENST00000262077.2	37	c.3547C>T	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	41	8.863322	0.98982	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	.	.	.	5.26	5.26	0.73747	.	0.139629	0.32952	N	0.005445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-4.1346	17.0434	0.86495	0.0:0.0:1.0:0.0	.	.	.	.	X	1183;1163;1214	.	ENSP00000262077:Q1183X	Q	-	1	0	NUP153	17734372	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.625000	0.61262	2.450000	0.82876	0.462000	0.41574	CAA		0.388	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			15	44	0	0	0	1	0	15	44				
LYST	1130	broad.mit.edu	37	1	235915397	235915397	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:235915397C>T	ENST00000389794.3	-	27	7709	c.7535G>A	c.(7534-7536)tGc>tAc	p.C2512Y	LYST_ENST00000389793.2_Missense_Mutation_p.C2512Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2512					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGGAACTGCAAGCATGAAT	0.328																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(7534-7536)tGc>tAc		lysosomal trafficking regulator							67.0	63.0	64.0					1																	235915397		2203	4297	6500	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235915397C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7535G>A	1.37:g.235915397C>T	ENSP00000374444:p.Cys2512Tyr					LYST_ENST00000389793.2_Missense_Mutation_p.C2512Y	p.C2512Y			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		27	7709	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2512					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.7535G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404338	0.83230	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.64438	-0.1;-0.1	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.79587	0.4471	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81486	-0.0911	10	0.87932	D	0	.	19.197	0.93693	0.0:1.0:0.0:0.0	.	2512	Q99698	LYST_HUMAN	Y	2512	ENSP00000374444:C2512Y;ENSP00000374443:C2512Y	ENSP00000374443:C2512Y	C	-	2	0	LYST	233982020	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.163000	0.77524	2.605000	0.88082	0.655000	0.94253	TGC		0.328	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			5	100	0	0	0	1	0	5	100				
GIGYF2	26058	broad.mit.edu	37	2	233671332	233671332	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:233671332C>T	ENST00000409547.1	+	17	2082	c.1771C>T	c.(1771-1773)Ccc>Tcc	p.P591S	GIGYF2_ENST00000409196.3_Missense_Mutation_p.P585S|GIGYF2_ENST00000373566.3_Missense_Mutation_p.P613S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.P591S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.P613S|GIGYF2_ENST00000452341.2_Missense_Mutation_p.P422S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.P612S	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	591					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGGAAGGGTTCCCTTTTCTCC	0.443																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1837-1839)Ccc>Tcc		GRB10 interacting GYF protein 2							144.0	141.0	142.0					2																	233671332		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233671332C>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1771C>T	2.37:g.233671332C>T	ENSP00000386537:p.Pro591Ser					GIGYF2_ENST00000373563.4_Missense_Mutation_p.P591S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.P585S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.P613S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.P591S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.P612S|GIGYF2_ENST00000452341.2_Missense_Mutation_p.P422S	p.P613S			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	16	2034	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	591			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1837C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017997	0.93404	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	D;D;D;D;D;D;D;D;D	0.83837	-1.58;-1.56;-1.58;-1.56;-1.77;-1.54;-1.58;-1.72;-1.65	5.71	5.71	0.89125	GYF (1);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.999;0.998;0.996;0.986	D	0.92350	0.5889	10	0.87932	D	0	-9.5243	19.8706	0.96849	0.0:1.0:0.0:0.0	.	422;612;591;585	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	S	613;534;591;613;591;591;534;585;612;585;422	ENSP00000362667:P613S;ENSP00000362664:P591S;ENSP00000386765:P613S;ENSP00000386537:P591S;ENSP00000404195:P534S;ENSP00000387070:P585S;ENSP00000387170:P612S;ENSP00000410297:P585S;ENSP00000411505:P422S	ENSP00000362664:P591S	P	+	1	0	GIGYF2	233379576	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.770000	0.85390	2.691000	0.91804	0.563000	0.77884	CCC		0.443	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		58	137	0	0	0	1	0	58	137				
RNLS	55328	broad.mit.edu	37	10	90332795	90332795	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:90332795G>C	ENST00000331772.4	-	4	413	c.391C>G	c.(391-393)Cgt>Ggt	p.R131G	RNLS_ENST00000466945.1_Intron|RNLS_ENST00000437752.1_Missense_Mutation_p.R48G|RNLS_ENST00000371947.3_Missense_Mutation_p.R131G	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	131					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TGTGTCACACGATGTCTGAAG	0.413																																						ENST00000371947.3																			0				breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(391-393)Cgt>Ggt		renalase, FAD-dependent amine oxidase							237.0	221.0	227.0					10																	90332795		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90332795G>C	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.391C>G	10.37:g.90332795G>C	ENSP00000332530:p.Arg131Gly					RNLS_ENST00000437752.1_Missense_Mutation_p.R48G|RNLS_ENST00000466945.1_Intron|RNLS_ENST00000331772.4_Missense_Mutation_p.R131G	p.R131G	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN			4	1730	-			131					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	c.391C>G	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	G	7.347	0.622132	0.14193	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	D;T;D	0.93953	-3.32;0.72;-3.32	5.71	-4.48	0.03515	Amine oxidase (1);	0.511827	0.23389	N	0.048713	D	0.84606	0.5509	L	0.29908	0.895	0.09310	N	1	B;B;B	0.18166	0.001;0.026;0.009	B;B;B	0.15870	0.003;0.014;0.005	T	0.70081	-0.4970	10	0.21540	T	0.41	.	10.8222	0.46612	0.2601:0.1325:0.6074:0.0	.	48;131;131	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	G	131;48;131	ENSP00000361015:R131G;ENSP00000387577:R48G;ENSP00000332530:R131G	ENSP00000332530:R131G	R	-	1	0	RNLS	90322775	0.000000	0.05858	0.009000	0.14445	0.243000	0.25628	-0.462000	0.06704	-0.759000	0.04684	-0.423000	0.05987	CGT		0.413	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		35	130	0	0	0	1	0	35	130				
GNA15	2769	broad.mit.edu	37	19	3151812	3151812	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:3151812C>T	ENST00000262958.3	+	4	851	c.593C>T	c.(592-594)tCc>tTc	p.S198F	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	198					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		TACTGCTTCTCCGTGCAGAAA	0.647																																						ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(592-594)tCc>tTc		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							94.0	81.0	85.0					19																	3151812		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3151812C>T		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.593C>T	19.37:g.3151812C>T	ENSP00000262958:p.Ser198Phe					AC005264.2_ENST00000587587.1_RNA	p.S198F	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	4	851	+		Hepatocellular(1079;0.137)	198					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.593C>T	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862306	0.71949	.	.	ENSG00000060558	ENST00000262958	D	0.89050	-2.46	4.59	4.59	0.56863	.	0.447669	0.23429	N	0.048279	D	0.92251	0.7542	M	0.81497	2.545	0.38037	D	0.935335	B	0.33379	0.41	P	0.45753	0.492	D	0.94166	0.7419	10	0.72032	D	0.01	.	14.9063	0.70721	0.0:1.0:0.0:0.0	.	198	P30679	GNA15_HUMAN	F	198	ENSP00000262958:S198F	ENSP00000262958:S198F	S	+	2	0	GNA15	3102812	0.995000	0.38212	0.999000	0.59377	0.991000	0.79684	3.330000	0.52068	2.093000	0.63338	0.546000	0.68486	TCC		0.647	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		17	94	0	0	0	1	0	17	94				
POTEE	445582	broad.mit.edu	37	2	131976140	131976140	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:131976140G>T	ENST00000356920.5	+	1	259	c.165G>T	c.(163-165)aaG>aaT	p.K55N	POTEE_ENST00000358087.5_Missense_Mutation_p.K55N|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	55					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CTGCTATGAAGACACTCAGGA	0.607																																						ENST00000356920.5																			0											c.(163-165)aaG>aaT		POTE ankyrin domain family, member E							152.0	153.0	153.0					2																	131976140		2203	4296	6499	SO:0001583	missense	445582						ATP binding	g.chr2:131976140G>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.165G>T	2.37:g.131976140G>T	ENSP00000439189:p.Lys55Asn					PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.K55N	p.K55N	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	259	+			55					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.165G>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	7.052	0.564597	0.13498	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.80480	-1.38;1.24	0.1	0.1	0.14510	.	.	.	.	.	T	0.68550	0.3013	N	0.19112	0.55	0.09310	N	1	P	0.39094	0.659	B	0.42959	0.403	T	0.60383	-0.7274	8	0.87932	D	0	.	.	.	.	.	55	Q6S8J3	POTEE_HUMAN	N	55	ENSP00000439189:K55N;ENSP00000443049:K55N	ENSP00000439189:K55N	K	+	3	2	AC131180.1	131692610	0.002000	0.14202	0.018000	0.16275	0.018000	0.09664	0.240000	0.18042	0.170000	0.19704	0.173000	0.16961	AAG		0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		86	242	1	0	2.1459e-41	1	2.31158e-41	86	242				
MKI67	4288	broad.mit.edu	37	10	129902688	129902688	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:129902688G>C	ENST00000368654.3	-	13	7791	c.7416C>G	c.(7414-7416)ttC>ttG	p.F2472L	MKI67_ENST00000368653.3_Missense_Mutation_p.F2112L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2472	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGAGGTTTTGAATGACTCTG	0.468																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7414-7416)ttC>ttG		marker of proliferation Ki-67							133.0	138.0	136.0					10																	129902688		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902688G>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7416C>G	10.37:g.129902688G>C	ENSP00000357643:p.Phe2472Leu					MKI67_ENST00000368653.3_Missense_Mutation_p.F2112L	p.F2472L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	7791	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2472			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7416C>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	0.714	-0.785885	0.02907	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02015	4.5;4.5	2.45	-4.18	0.03846	.	3.460850	0.01194	N	0.007405	T	0.01661	0.0053	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30634	0.01;0.225;0.288	B;B;B	0.27076	0.009;0.076;0.072	T	0.41052	-0.9530	10	0.24483	T	0.36	.	3.1158	0.06373	0.1084:0.2483:0.4304:0.2129	.	2471;2112;2472	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	2472;2112;2471	ENSP00000357643:F2472L;ENSP00000357642:F2112L	ENSP00000357642:F2112L	F	-	3	2	MKI67	129792678	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.801000	0.00761	-1.080000	0.03109	-0.344000	0.07964	TTC		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		60	190	0	0	0	1	0	60	190				
PTGES3L	100885848	broad.mit.edu	37	17	41131266	41131266	+	Intron	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:41131266G>A	ENST00000453594.1	-	3	664				PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.S52F|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.S113F|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.S52F|RP11-376M2.2_ENST00000587526.1_RNA|PTGES3L_ENST00000409446.3_Missense_Mutation_p.S75F|RUNDC1_ENST00000361677.1_5'Flank|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.S113F	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like																		AGAGCGGGAAGAGCGCTTATC	0.522																																						ENST00000421990.2																			0											c.(337-339)tCt>tTt									146.0	157.0	153.0					17																	41131266		2203	4300	6503	SO:0001627	intron_variant	100885850							g.chr17:41131266G>A		CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.318+128C>T	17.37:g.41131266G>A						PTGES3L_ENST00000453594.1_Intron|PTGES3L_ENST00000409446.3_Missense_Mutation_p.S75F|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.S52F|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.S52F|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.S113F	p.S113F	NM_001136042.2	NP_001129514.2					4	683	-									Missense_Mutation	SNP	ENST00000453594.1	37	c.338C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.42|19.42	3.823615|3.823615	0.71143|0.71143	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000424284|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000409446	.|T;T;T;T;T;T	.|0.29655	.|1.56;2.54;2.54;1.56;1.56;1.56	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.067788	.|0.64402	.|D	.|0.000007	T|T	0.50103|0.50103	0.1596|0.1596	L|L	0.45352|0.45352	1.415|1.415	.|0.32414	.|N	.|0.550285	.|D;D;P;P	.|0.76494	.|0.999;0.969;0.925;0.925	.|D;P;P;P	.|0.83275	.|0.996;0.776;0.572;0.572	T|T	0.50499|0.50499	-0.8821|-0.8821	4|9	.|0.66056	.|D	.|0.02	-13.6964|-13.6964	18.6708|18.6708	0.91510|0.91510	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|75;113;52;70	.|B9A003;B4DI73;C9J5N1;B3KSP9	.|.;.;.;.	F|F	42|52;113;113;52;52;75	.|ENSP00000353355:S52F;ENSP00000386621:S113F;ENSP00000409924:S113F;ENSP00000386254:S52F;ENSP00000407951:S52F;ENSP00000386902:S75F	.|ENSP00000353355:S52F	L|S	-|-	1|2	0|0	AARSD1|AARSD1	38384792|38384792	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.983000|0.983000	0.72400|0.72400	4.992000|4.992000	0.63889|0.63889	2.625000|2.625000	0.88918|0.88918	0.643000|0.643000	0.83706|0.83706	CTT|TCT		0.522	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653		61	180	0	0	0	1	0	61	180				
SCRN1	9805	broad.mit.edu	37	7	29983663	29983663	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:29983663C>G	ENST00000426154.1	-	4	650	c.474G>C	c.(472-474)ctG>ctC	p.L158L	SCRN1_ENST00000434476.2_Silent_p.L178L|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409497.1_Silent_p.L158L|SCRN1_ENST00000242059.5_Silent_p.L158L|SCRN1_ENST00000416113.2_Silent_p.L49L|SCRN1_ENST00000425819.2_Silent_p.L90L	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	158					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GATCCACAATCAGATATGCAC	0.488																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(472-474)ctG>ctC		secernin 1							160.0	138.0	146.0					7																	29983663		2203	4300	6503	SO:0001819	synonymous_variant	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29983663C>G	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.474G>C	7.37:g.29983663C>G						SCRN1_ENST00000409497.1_Silent_p.L158L|SCRN1_ENST00000416113.2_Silent_p.L49L|SCRN1_ENST00000242059.5_Silent_p.L158L|SCRN1_ENST00000494620.1_5'UTR	p.L158L	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			4	650	-			158					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Silent	SNP	ENST00000426154.1	37	c.474G>C	CCDS5422.1																																																																																				0.488	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		23	80	0	0	0	1	0	23	80				
ADCY10	55811	broad.mit.edu	37	1	167852773	167852773	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:167852773C>T	ENST00000367851.4	-	9	1106	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	ADCY10_ENST00000367848.1_Missense_Mutation_p.E216K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E155K	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	308	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTATCTCTTCTGCTTTGTCT	0.433																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(646-648)Gaa>Aaa		adenylate cyclase 10 (soluble)							194.0	170.0	178.0					1																	167852773		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167852773C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.922G>A	1.37:g.167852773C>T	ENSP00000356825:p.Glu308Lys					ADCY10_ENST00000367851.4_Missense_Mutation_p.E308K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E155K	p.E216K			Q96PN6	ADCYA_HUMAN			9	1143	-			308					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.646G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965116	0.53507	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	D;D;D	0.81739	-1.53;-1.53;-1.53	5.71	5.71	0.89125	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.417424	0.23477	N	0.047750	T	0.79776	0.4504	L	0.52823	1.66	0.33427	D	0.580659	D;P;P	0.55605	0.972;0.952;0.92	P;P;P	0.53912	0.737;0.6;0.551	T	0.79631	-0.1723	9	0.40728	T	0.16	-18.2209	15.358	0.74443	0.0:1.0:0.0:0.0	.	155;216;308	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	K	155;308;216	ENSP00000441992:E155K;ENSP00000356825:E308K;ENSP00000356822:E216K	ENSP00000356822:E216K	E	-	1	0	ADCY10	166119397	0.026000	0.19158	0.823000	0.32752	0.008000	0.06430	0.997000	0.29731	2.687000	0.91594	0.655000	0.94253	GAA		0.433	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		38	131	0	0	0	1	0	38	131				
GPR50	9248	broad.mit.edu	37	X	150348595	150348595	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:150348595C>T	ENST00000218316.3	+	2	609	c.540C>T	c.(538-540)ttC>ttT	p.F180F	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	180					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)					CCTGCATCTTCAACTATCTGA	0.527																																						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.(538-540)ttC>ttT		G protein-coupled receptor 50							247.0	224.0	232.0					X																	150348595		2180	4262	6442	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348595C>T	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.540C>T	X.37:g.150348595C>T							p.F180F	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	609	+	Acute lymphoblastic leukemia(192;6.56e-05)		180					Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.540C>T	CCDS44012.1																																																																																				0.527	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		42	39	0	0	0	1	0	42	39				
IGSF22	283284	broad.mit.edu	37	11	18735431	18735431	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:18735431G>A	ENST00000513874.1	-	14	2202	c.2063C>T	c.(2062-2064)tCa>tTa	p.S688L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	688	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGCCGTGGCTGAGCCGTGGTC	0.637																																						ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(2062-2064)tCa>tTa		immunoglobulin superfamily, member 22							45.0	50.0	48.0					11																	18735431		2174	4259	6433	SO:0001583	missense	283284							g.chr11:18735431G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2063C>T	11.37:g.18735431G>A	ENSP00000421191:p.Ser688Leu					RP11-1081L13.4_ENST00000527285.1_RNA	p.S688L	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			14	2202	-			688			Ig-like 4.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.2063C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410331	0.42715	.	.	ENSG00000179057	ENST00000513874	T	0.68765	-0.35	3.97	3.04	0.35103	.	0.942983	0.08588	U	0.923519	T	0.58004	0.2092	L	0.41124	1.26	0.09310	N	1	B	0.27910	0.193	B	0.24701	0.055	T	0.50259	-0.8849	10	0.51188	T	0.08	.	9.946	0.41609	0.0991:0.0:0.9009:0.0	.	688	D6RGV7	.	L	688	ENSP00000421191:S688L	ENSP00000322422:S688L	S	-	2	0	IGSF22	18692007	0.893000	0.30496	0.030000	0.17652	0.918000	0.54935	3.422000	0.52749	0.864000	0.35578	0.442000	0.29010	TCA		0.637	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		7	19	0	0	0	1	0	7	19				
EHD2	30846	broad.mit.edu	37	19	48220235	48220235	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:48220235C>T	ENST00000263277.3	+	2	617	c.366C>T	c.(364-366)ttC>ttT	p.F122F	EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	122	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ACAAGCCCTTCCGCAAACTCA	0.602																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(364-366)ttC>ttT		EH-domain containing 2							33.0	36.0	35.0					19																	48220235		2185	4279	6464	SO:0001819	synonymous_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48220235C>T	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.366C>T	19.37:g.48220235C>T						EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	p.F122F	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	2	617	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	122					B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	c.366C>T	CCDS12704.1																																																																																				0.602	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			16	56	0	0	0	1	0	16	56				
TRHDE	29953	broad.mit.edu	37	12	73046848	73046848	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:73046848G>A	ENST00000261180.4	+	17	2857	c.2761G>A	c.(2761-2763)Gat>Aat	p.D921N		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	921					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGATGCAATTGATGTCATAAT	0.353																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2761-2763)Gat>Aat		thyrotropin-releasing hormone degrading enzyme							89.0	87.0	88.0					12																	73046848		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046848G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2761G>A	12.37:g.73046848G>A	ENSP00000261180:p.Asp921Asn						p.D921N	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			17	2857	+			921					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2761G>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531821	0.64972	.	.	ENSG00000072657	ENST00000261180	T	0.05199	3.48	5.47	5.47	0.80525	.	0.099373	0.64402	D	0.000002	T	0.13884	0.0336	N	0.20483	0.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38887	-0.9640	10	0.18276	T	0.48	.	19.3291	0.94278	0.0:0.0:1.0:0.0	.	921	Q9UKU6	TRHDE_HUMAN	N	921	ENSP00000261180:D921N	ENSP00000261180:D921N	D	+	1	0	TRHDE	71333115	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.582000	0.87167	0.655000	0.94253	GAT		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		25	63	0	0	0	1	0	25	63				
CENPB	1059	broad.mit.edu	37	20	3766568	3766568	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3766568G>A	ENST00000379751.4	-	1	769	c.563C>T	c.(562-564)tCg>tTg	p.S188L	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	188					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CACGTCCTGCGAGGCGTAGCC	0.731																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(562-564)tCg>tTg		centromere protein B, 80kDa							24.0	26.0	25.0					20																	3766568		1983	3881	5864	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766568G>A	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.563C>T	20.37:g.3766568G>A	ENSP00000369075:p.Ser188Leu						p.S188L	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	769	-			188					Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.563C>T	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	g	16.34	3.096807	0.56075	.	.	ENSG00000125817	ENST00000379751	T	0.44482	0.92	3.73	3.73	0.42828	.	0.000000	0.31784	U	0.007080	T	0.27933	0.0688	N	0.19112	0.55	0.32749	N	0.506628	B	0.31817	0.341	B	0.29663	0.105	T	0.43829	-0.9367	10	0.49607	T	0.09	-6.3417	13.0083	0.58718	0.0:0.0:1.0:0.0	.	188	P07199	CENPB_HUMAN	L	188	ENSP00000369075:S188L	ENSP00000369075:S188L	S	-	2	0	CENPB	3714568	0.885000	0.30320	0.997000	0.53966	0.792000	0.44763	2.247000	0.43151	1.627000	0.50400	0.306000	0.20318	TCG		0.731	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		15	56	0	0	0	1	0	15	56				
KIF3B	9371	broad.mit.edu	37	20	30898122	30898122	+	Missense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:30898122C>A	ENST00000375712.3	+	2	709	c.542C>A	c.(541-543)tCc>tAc	p.S181Y	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	181	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GACCTGTCTTCCTTTGTCACC	0.498																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(541-543)tCc>tAc		kinesin family member 3B							86.0	69.0	75.0					20																	30898122		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898122C>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.542C>A	20.37:g.30898122C>A	ENSP00000364864:p.Ser181Tyr						p.S181Y	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	709	+			181			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.542C>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468153	0.63625	.	.	ENSG00000101350	ENST00000375712	T	0.75938	-0.98	5.31	4.36	0.52297	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.84092	0.5396	M	0.65320	2	0.80722	D	1	D;D	0.89917	0.986;1.0	D;D	0.80764	0.924;0.994	D	0.86175	0.1602	10	0.72032	D	0.01	.	15.9909	0.80206	0.0:0.8651:0.1349:0.0	.	181;181	B4DYF2;O15066	.;KIF3B_HUMAN	Y	181	ENSP00000364864:S181Y	ENSP00000364864:S181Y	S	+	2	0	KIF3B	30361783	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.651000	0.83577	1.444000	0.47605	0.561000	0.74099	TCC		0.498	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		22	264	1	0	1.10513e-12	1	1.17179e-12	22	264				
BMPR1B	658	broad.mit.edu	37	4	96046263	96046263	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:96046263C>G	ENST00000515059.1	+	8	859	c.576C>G	c.(574-576)ctC>ctG	p.L192L	BMPR1B_ENST00000264568.4_Silent_p.L192L|BMPR1B_ENST00000440890.2_Silent_p.L222L|BMPR1B_ENST00000394931.1_Silent_p.L192L	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	192	GS. {ECO:0000255|PROSITE- ProRule:PRU00585}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GATCAGGCCTCCCTCTGCTGG	0.423																																						ENST00000515059.1																			0				breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(574-576)ctC>ctG		bone morphogenetic protein receptor, type IB							70.0	68.0	69.0					4																	96046263		2203	4300	6503	SO:0001819	synonymous_variant	658				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	g.chr4:96046263C>G	D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.576C>G	4.37:g.96046263C>G						BMPR1B_ENST00000440890.2_Silent_p.L222L|BMPR1B_ENST00000394931.1_Silent_p.L192L|BMPR1B_ENST00000264568.4_Silent_p.L192L	p.L192L	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)	8	859	+		Hepatocellular(203;0.114)	192			GS.		B2R953|B4DSV1|P78366	Silent	SNP	ENST00000515059.1	37	c.576C>G	CCDS3642.1																																																																																				0.423	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203		13	74	0	0	0	1	0	13	74				
EFCC1	79825	broad.mit.edu	37	3	128758660	128758660	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:128758660C>T	ENST00000480450.1	+	8	1766	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	EFCC1_ENST00000436022.2_Missense_Mutation_p.A152V			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	589	Poly-Ala.						calcium ion binding (GO:0005509)										GCAGCAGCTGCGCTCACCAAC	0.662																																						ENST00000436022.2																			0											c.(454-456)gCg>gTg		EF-hand and coiled-coil domain containing 1							54.0	52.0	52.0					3																	128758660		2203	4300	6503	SO:0001583	missense	79825							g.chr3:128758660C>T	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1766C>T	3.37:g.128758660C>T	ENSP00000420075:p.Ala589Val					EFCC1_ENST00000480450.1_Missense_Mutation_p.A589V	p.A152V	NM_024768.2	NP_079044.2					8	1766	+								A8MYE2	Missense_Mutation	SNP	ENST00000480450.1	37	c.455C>T	CCDS3054.2	.	.	.	.	.	.	.	.	.	.	C	5.498	0.276947	0.10403	.	.	ENSG00000114654	ENST00000480450;ENST00000436022	T;T	0.52526	0.69;0.66	3.94	0.0807	0.14422	.	0.469539	0.19518	N	0.112344	T	0.28764	0.0713	L	0.27053	0.805	0.09310	N	1	B	0.19200	0.034	B	0.15052	0.012	T	0.12218	-1.0556	10	0.38643	T	0.18	.	6.3297	0.21262	0.0:0.5468:0.0:0.4532	.	589	Q9HA90	CCD48_HUMAN	V	589;152	ENSP00000420075:A589V;ENSP00000414597:A152V	ENSP00000414597:A152V	A	+	2	0	CCDC48	130241350	0.021000	0.18746	0.001000	0.08648	0.036000	0.12997	0.222000	0.17699	-0.211000	0.10124	0.491000	0.48974	GCG		0.662	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		13	66	0	0	0	1	0	13	66				
PPP1R12B	4660	broad.mit.edu	37	1	202464798	202464798	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:202464798C>G	ENST00000608999.1	+	17	2589	c.2436C>G	c.(2434-2436)ttC>ttG	p.F812L	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.F812L|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.F38L|PPP1R12B_ENST00000391959.3_Missense_Mutation_p.F38L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	812					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.F812F(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCATCAATTTCTGGACAAAGG	0.473																																						ENST00000406302.3																			1	Substitution - coding silent(1)	p.F812F(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(2434-2436)ttC>ttG		protein phosphatase 1, regulatory subunit 12B							107.0	109.0	109.0					1																	202464798		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202464798C>G	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2436C>G	1.37:g.202464798C>G	ENSP00000476755:p.Phe812Leu					PPP1R12B_ENST00000391959.3_Missense_Mutation_p.F38L|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.F812L|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.F38L	p.F812L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		17	2589	+			812					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.2436C>G	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053642	0.75960	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000391959;ENST00000367270	T;T;T;T	0.45668	1.03;1.04;0.89;0.9	5.25	3.07	0.35406	.	0.000000	0.64402	D	0.000016	T	0.56587	0.1995	M	0.69248	2.105	0.41343	D	0.987318	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.80764	0.987;0.97;0.994	T	0.54846	-0.8232	10	0.38643	T	0.18	.	8.6332	0.33933	0.0:0.77:0.0:0.23	.	38;812;812	O60237-3;O60237;F8W8M3	.;MYPT2_HUMAN;.	L	812;812;38;38	ENSP00000384496:F812L;ENSP00000337897:F812L;ENSP00000375821:F38L;ENSP00000356239:F38L	ENSP00000337897:F812L	F	+	3	2	PPP1R12B	200731421	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.612000	0.36889	1.092000	0.41356	0.655000	0.94253	TTC		0.473	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		15	74	0	0	0	1	0	15	74				
UNC79	57578	broad.mit.edu	37	14	94152935	94152935	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:94152935G>A	ENST00000393151.2	+	44	6954	c.6954G>A	c.(6952-6954)atG>atA	p.M2318I	UNC79_ENST00000555664.1_Missense_Mutation_p.M2279I|UNC79_ENST00000256339.4_Missense_Mutation_p.M2141I|UNC79_ENST00000553484.1_Missense_Mutation_p.M2340I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2318					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						CTGCAGCGATGGAGTGTGTGA	0.512																																						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.(7018-7020)atG>atA		unc-79 homolog (C. elegans)							218.0	144.0	169.0					14																	94152935		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94152935G>A	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.6954G>A	14.37:g.94152935G>A	ENSP00000376858:p.Met2318Ile					UNC79_ENST00000393151.2_Missense_Mutation_p.M2318I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2279I|UNC79_ENST00000256339.4_Missense_Mutation_p.M2141I	p.M2340I			Q9P2D8	UNC79_HUMAN			45	7174	+			2318					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7020G>A		.	.	.	.	.	.	.	.	.	.	G	14.20	2.463493	0.43736	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17854	2.25;2.27;2.25;2.25	5.65	5.65	0.86999	.	0.076827	0.85682	D	0.000000	T	0.19406	0.0466	L	0.40543	1.245	0.58432	D	0.999999	B	0.12013	0.005	B	0.17098	0.017	T	0.02026	-1.1227	10	0.48119	T	0.1	-17.1181	19.7063	0.96072	0.0:0.0:1.0:0.0	.	2340	C9JQL1	.	I	2141;2279;2340;2318;2340	ENSP00000256339:M2141I;ENSP00000450868:M2279I;ENSP00000451360:M2340I;ENSP00000376858:M2318I	ENSP00000256339:M2141I	M	+	3	0	KIAA1409	93222688	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.348000	0.97062	2.833000	0.97629	0.655000	0.94253	ATG		0.512	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		11	41	0	0	0	1	0	11	41				
CELSR2	1952	broad.mit.edu	37	1	109793608	109793608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:109793608G>T	ENST00000271332.3	+	1	968	c.907G>T	c.(907-909)Gag>Tag	p.E303*		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	303	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGAGAACCTGGAGGTTGGCTA	0.582																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(907-909)Gag>Tag		cadherin, EGF LAG seven-pass G-type receptor 2							85.0	80.0	82.0					1																	109793608		2203	4300	6503	SO:0001587	stop_gained	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793608G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.907G>T	1.37:g.109793608G>T	ENSP00000271332:p.Glu303*						p.E303*	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	968	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	303			Cadherin 2.		Q5T2Y7|Q92566	Nonsense_Mutation	SNP	ENST00000271332.3	37	c.907G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	38	6.693572	0.97768	.	.	ENSG00000143126	ENST00000271332	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	17.8774	0.88829	0.0:0.0:1.0:0.0	.	.	.	.	X	303	.	ENSP00000271332:E303X	E	+	1	0	CELSR2	109595131	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.616000	0.83018	2.452000	0.82932	0.555000	0.69702	GAG		0.582	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		19	62	1	0	5.3912e-06	1	5.51673e-06	19	62				
SPATA20	64847	broad.mit.edu	37	17	48628248	48628248	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:48628248C>G	ENST00000356488.4	+	10	1388	c.1305C>G	c.(1303-1305)ctC>ctG	p.L435L	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.L391L|SPATA20_ENST00000006658.6_Silent_p.L451L	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	435					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACTACGGCCTCACAGAGGCTG	0.632											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1351-1353)ctC>ctG		spermatogenesis associated 20							58.0	65.0	63.0					17																	48628248		2203	4298	6501	SO:0001819	synonymous_variant	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48628248C>G		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1305C>G	17.37:g.48628248C>G			OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	119	SPATA20_ENST00000393244.3_Silent_p.L391L|SPATA20_ENST00000356488.4_Silent_p.L435L|SPATA20_ENST00000511937.1_3'UTR	p.L451L	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		11	1473	+	Breast(11;1.23e-18)		435					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	37	c.1353C>G	CCDS58563.1																																																																																				0.632	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		23	81	0	0	0	1	0	23	81				
PGAP1	80055	broad.mit.edu	37	2	197708715	197708715	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:197708715C>T	ENST00000354764.4	-	25	2536	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	808					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCTTCAGCATCGTTGGCAGAT	0.358																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(2422-2424)Gat>Aat		post-GPI attachment to proteins 1							150.0	139.0	143.0					2																	197708715		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197708715C>T		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2422G>A	2.37:g.197708715C>T	ENSP00000346809:p.Asp808Asn						p.D808N	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			25	2536	-			808					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.2422G>A	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260393	0.23051	.	.	ENSG00000197121	ENST00000354764;ENST00000422444	T;T	0.41400	1.0;1.0	4.87	3.91	0.45181	.	0.299165	0.31949	N	0.006812	T	0.19565	0.0470	N	0.08118	0	0.09310	N	0.999995	B;B	0.13145	0.007;0.002	B;B	0.08055	0.003;0.001	T	0.11324	-1.0592	10	0.18276	T	0.48	-10.1396	8.6207	0.33859	0.155:0.7573:0.0:0.0877	.	634;808	Q75T13-2;Q75T13	.;PGAP1_HUMAN	N	808;80	ENSP00000346809:D808N;ENSP00000390555:D80N	ENSP00000346809:D808N	D	-	1	0	PGAP1	197416960	0.631000	0.27164	0.145000	0.22337	0.731000	0.41821	1.788000	0.38714	2.520000	0.84964	0.557000	0.71058	GAT		0.358	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		21	74	0	0	0	1	0	21	74				
CTNND2	1501	broad.mit.edu	37	5	11346497	11346497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:11346497G>A	ENST00000304623.8	-	9	1804	c.1615C>T	c.(1615-1617)Cag>Tag	p.Q539*	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q106*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q202*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q539*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q448*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	539					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATCTTTCTGAATGCTATCA	0.468																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1615-1617)Cag>Tag		catenin (cadherin-associated protein), delta 2							81.0	90.0	87.0					5																	11346497		2203	4300	6503	SO:0001587	stop_gained	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346497G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1615C>T	5.37:g.11346497G>A	ENSP00000307134:p.Gln539*					CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q202*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q106*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q448*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q539*	p.Q539*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			9	1804	-			539					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	ENST00000304623.8	37	c.1615C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	41	8.588957	0.98875	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	.	.	.	5.71	5.71	0.89125	.	0.146450	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.581	19.8633	0.96793	0.0:0.0:1.0:0.0	.	.	.	.	X	539;539;448;106;202	.	ENSP00000307134:Q539X	Q	-	1	0	CTNND2	11399497	1.000000	0.71417	0.978000	0.43139	0.989000	0.77384	9.434000	0.97515	2.697000	0.92050	0.591000	0.81541	CAG		0.468	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		23	111	0	0	0	1	0	23	111				
CREBBP	1387	broad.mit.edu	37	16	3786674	3786674	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:3786674C>T	ENST00000262367.5	-	27	5346	c.4537G>A	c.(4537-4539)Gag>Aag	p.E1513K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1475K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1513	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.			FAE -> NSG (in Ref. 2; AAC51340). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGATCCGCTCTGCAAACGCC	0.478			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4537-4539)Gag>Aag		CREB binding protein							285.0	241.0	256.0					16																	3786674		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3786674C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4537G>A	16.37:g.3786674C>T	ENSP00000262367:p.Glu1513Lys					CREBBP_ENST00000382070.3_Missense_Mutation_p.E1475K	p.E1513K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	27	5346	-		Ovarian(90;0.0266)	1513	FAE -> NSG (in Ref. 2; AAC51340).		Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4537G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.744390	0.89663	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93659	-3.26;-3.26	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	D	0.96728	0.8932	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.96830	0.9610	10	0.59425	D	0.04	-30.0326	18.1954	0.89819	0.0:1.0:0.0:0.0	.	1543;1513	Q4LE28;Q92793	.;CBP_HUMAN	K	1513;1543;1475;102	ENSP00000262367:E1513K;ENSP00000371502:E1475K	ENSP00000262367:E1513K	E	-	1	0	CREBBP	3726675	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	7.559000	0.82265	2.607000	0.88179	0.561000	0.74099	GAG		0.478	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		21	142	0	0	0	1	0	21	142				
GAB4	128954	broad.mit.edu	37	22	17446136	17446136	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr22:17446136C>G	ENST00000400588.1	-	7	1418	c.1311G>C	c.(1309-1311)ctG>ctC	p.L437L	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	437										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGTTGTTTCTCAGGTTGGGCG	0.547																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1309-1311)ctG>ctC		GRB2-associated binding protein family, member 4							174.0	180.0	178.0					22																	17446136		2016	4217	6233	SO:0001819	synonymous_variant	128954							g.chr22:17446136C>G	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1311G>C	22.37:g.17446136C>G							p.L437L	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			7	1418	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	437						Silent	SNP	ENST00000400588.1	37	c.1311G>C	CCDS42976.1																																																																																				0.547	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		16	47	0	0	0	1	0	16	47				
C2CD5	9847	broad.mit.edu	37	12	22643059	22643059	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:22643059C>G	ENST00000333957.4	-	12	1611	c.1356G>C	c.(1354-1356)caG>caC	p.Q452H	C2CD5_ENST00000396028.2_Missense_Mutation_p.Q443H|C2CD5_ENST00000542676.1_Missense_Mutation_p.Q452H|C2CD5_ENST00000544930.1_Missense_Mutation_p.Q267H|C2CD5_ENST00000446597.1_Missense_Mutation_p.Q452H|C2CD5_ENST00000545552.1_Missense_Mutation_p.Q465H|C2CD5_ENST00000536386.1_Missense_Mutation_p.Q454H	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	452					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ATGACAACCTCTGTTCCAAAC	0.473																																						ENST00000333957.4																			0											c.(1354-1356)caG>caC		C2 calcium-dependent domain containing 5							59.0	57.0	58.0					12																	22643059		2203	4300	6503	SO:0001583	missense	9847							g.chr12:22643059C>G	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1356G>C	12.37:g.22643059C>G	ENSP00000334229:p.Gln452His					C2CD5_ENST00000544930.1_Missense_Mutation_p.Q267H|C2CD5_ENST00000542676.1_Missense_Mutation_p.Q452H|C2CD5_ENST00000396028.2_Missense_Mutation_p.Q443H|C2CD5_ENST00000536386.1_Missense_Mutation_p.Q454H|C2CD5_ENST00000446597.1_Missense_Mutation_p.Q452H|C2CD5_ENST00000545552.1_Missense_Mutation_p.Q465H	p.Q452H	NM_014802.1	NP_055617.1					12	1611	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1356G>C	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.373|9.373	1.070943|1.070943	0.20147|0.20147	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000535555|ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.|T;T;T;T;T;T;T	.|0.48201	.|0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.58|5.58	2.18|2.18	0.27775|0.27775	.|.	.|0.277850	.|0.35772	.|N	.|0.002987	T|T	0.26011|0.26011	0.0634|0.0634	N|N	0.17082|0.17082	0.46|0.46	0.31307|0.31307	N|N	0.687598|0.687598	.|B;B;B;B;B;B	.|0.06786	.|0.001;0.0;0.001;0.001;0.001;0.0	.|B;B;B;B;B;B	.|0.08055	.|0.002;0.0;0.003;0.001;0.002;0.001	T|T	0.10683|0.10683	-1.0619|-1.0619	5|10	.|0.35671	.|T	.|0.21	-12.3098|-12.3098	5.2256|5.2256	0.15393|0.15393	0.0:0.3951:0.0:0.6049|0.0:0.3951:0.0:0.6049	.|.	.|454;452;267;454;443;452	.|F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.|.;.;.;.;.;K0528_HUMAN	Q|H	150|452;452;454;443;452;465;267	.|ENSP00000334229:Q452H;ENSP00000388756:Q452H;ENSP00000439392:Q454H;ENSP00000379345:Q443H;ENSP00000441951:Q452H;ENSP00000443204:Q465H;ENSP00000445288:Q267H	.|ENSP00000334229:Q452H	E|Q	-|-	1|3	0|2	KIAA0528|KIAA0528	22534326|22534326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.054000|2.054000	0.41335|0.41335	0.640000|0.640000	0.30582|0.30582	0.585000|0.585000	0.79938|0.79938	GAG|CAG		0.473	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		13	54	0	0	0	1	0	13	54				
GALNT14	79623	broad.mit.edu	37	2	31154959	31154959	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:31154959C>T	ENST00000349752.5	-	10	1672	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	GALNT14_ENST00000420311.2_Missense_Mutation_p.D310N|GALNT14_ENST00000406653.1_Missense_Mutation_p.D325N|GALNT14_ENST00000324589.5_Missense_Mutation_p.D350N|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Missense_Mutation_p.D312N	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	345					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCATTTCCATCAGGGAAAACG	0.607																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(1033-1035)Gat>Aat		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							83.0	78.0	80.0					2																	31154959		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31154959C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1033G>A	2.37:g.31154959C>T	ENSP00000288988:p.Asp345Asn					GALNT14_ENST00000356174.3_Missense_Mutation_p.D312N|GALNT14_ENST00000324589.5_Missense_Mutation_p.D350N|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.D325N|GALNT14_ENST00000420311.2_Missense_Mutation_p.D310N	p.D345N	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			10	1672	-	Acute lymphoblastic leukemia(172;0.155)		345					B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.1033G>A	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352708	0.61293	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	4.98	3.19	0.36642	.	0.164276	0.52532	N	0.000072	T	0.51415	0.1673	N	0.25332	0.735	0.41122	D	0.985825	B;B;B;B;B	0.18310	0.006;0.006;0.027;0.006;0.007	B;B;B;B;B	0.18561	0.02;0.009;0.022;0.008;0.006	T	0.42849	-0.9427	10	0.42905	T	0.14	.	10.6318	0.45541	0.0:0.8452:0.0:0.1548	.	310;312;350;345;325	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	N	345;350;325;312;310;312	ENSP00000288988:D345N;ENSP00000314500:D350N;ENSP00000385435:D325N;ENSP00000348497:D312N;ENSP00000415514:D310N;ENSP00000406399:D312N	ENSP00000314500:D350N	D	-	1	0	GALNT14	31008463	1.000000	0.71417	0.423000	0.26634	0.869000	0.49853	4.949000	0.63596	0.521000	0.28445	0.561000	0.74099	GAT		0.607	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		10	34	0	0	0	1	0	10	34				
TULP1	7287	broad.mit.edu	37	6	35473538	35473538	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:35473538C>T	ENST00000229771.6	-	11	1171	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E	TULP1_ENST00000322263.4_Silent_p.E311E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	364					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CGATGAAATTCTCCCCTCCTC	0.582																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1090-1092)gaG>gaA		tubby like protein 1							70.0	65.0	67.0					6																	35473538		2203	4300	6503	SO:0001819	synonymous_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35473538C>T	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1092G>A	6.37:g.35473538C>T						TULP1_ENST00000322263.4_Silent_p.E311E	p.E364E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			11	1171	-			364					O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.1092G>A	CCDS4807.1																																																																																				0.582	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			21	53	0	0	0	1	0	21	53				
SLC38A8	146167	broad.mit.edu	37	16	84065570	84065570	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr16:84065570G>A	ENST00000299709.3	-	4	533	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	178					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGTGCCTAGGATGCTAACAC	0.607																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(532-534)atC>atT		solute carrier family 38, member 8							134.0	102.0	113.0					16																	84065570		2200	4300	6500	SO:0001819	synonymous_variant	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84065570G>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.534C>T	16.37:g.84065570G>A							p.I178I	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			4	533	-			178						Silent	SNP	ENST00000299709.3	37	c.534C>T	CCDS32495.1																																																																																				0.607	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		8	65	0	0	0	1	0	8	65				
ZNF20	7568	broad.mit.edu	37	19	12244368	12244368	+	Silent	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:12244368G>C	ENST00000334213.5	-	4	857	c.633C>G	c.(631-633)ctC>ctG	p.L211L	ZNF20_ENST00000485451.1_5'Flank|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	211					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)|kidney(1)|lung(6)	8						GACATAAATTGAGAAAATAGA	0.388																																						ENST00000334213.5																			0				endometrium(1)|kidney(1)|lung(6)	8						c.(631-633)ctC>ctG		zinc finger protein 20							123.0	134.0	130.0					19																	12244368		2199	4298	6497	SO:0001819	synonymous_variant	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12244368G>C	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.633C>G	19.37:g.12244368G>C						ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	p.L211L	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN			4	857	-			211					Q8N457|Q9UG41	Silent	SNP	ENST00000334213.5	37	c.633C>G	CCDS45986.1																																																																																				0.388	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		57	256	0	0	0	1	0	57	256				
GPRASP1	9737	broad.mit.edu	37	X	101909468	101909468	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:101909468C>G	ENST00000361600.5	+	5	1428	c.627C>G	c.(625-627)gtC>gtG	p.V209V	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.V209V|GPRASP1_ENST00000444152.1_Silent_p.V209V|GPRASP1_ENST00000537097.1_Silent_p.V209V	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	209					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGATGAGGTCACTGCAAAAT	0.443																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(625-627)gtC>gtG		G protein-coupled receptor associated sorting protein 1							143.0	146.0	145.0					X																	101909468		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101909468C>G	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.627C>G	X.37:g.101909468C>G						GPRASP1_ENST00000444152.1_Silent_p.V209V|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.V209V|GPRASP1_ENST00000415986.1_Silent_p.V209V	p.V209V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	1440	+			209					O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.627C>G	CCDS35352.1																																																																																				0.443	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		58	74	0	0	0	1	0	58	74				
CNOT6L	246175	broad.mit.edu	37	4	78663422	78663422	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:78663422G>C	ENST00000504123.1	-	8	875	c.745C>G	c.(745-747)Ctc>Gtc	p.L249V	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.L249V			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	249	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGCAGAAAGAGAGTGAAGTAT	0.388																																						ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(745-747)Ctc>Gtc		CCR4-NOT transcription complex, subunit 6-like							63.0	56.0	58.0					4																	78663422		1874	4117	5991	SO:0001583	missense	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78663422G>C	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.745C>G	4.37:g.78663422G>C	ENSP00000424896:p.Leu249Val					CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.L249V	p.L249V			Q96LI5	CNO6L_HUMAN			8	875	-			249					Q9UF92	Missense_Mutation	SNP	ENST00000504123.1	37	c.745C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.63|17.63	3.436390|3.436390	0.62955|0.62955	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983|ENST00000515506	T;T;T;T|.	0.80824|.	-1.42;-1.42;-1.42;-1.42|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Endonuclease/exonuclease/phosphatase (2);|.	0.109676|.	0.64402|.	D|.	0.000005|.	T|T	0.55862|0.55862	0.1947|0.1947	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	B;B|B	0.31730|0.25105	0.337;0.152|0.118	B;B|B	0.36766|0.27262	0.149;0.232|0.078	T|T	0.46610|0.46610	-0.9179|-0.9179	10|7	0.87932|.	D|.	0|.	-8.8613|-8.8613	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	222;249|196	Q96LI5-2;Q96LI5|B4E2S0	.;CNO6L_HUMAN|.	V|C	249;249;256;24|277	ENSP00000424896:L249V;ENSP00000264903:L249V;ENSP00000425571:L256V;ENSP00000426320:L24V|.	ENSP00000264903:L249V|.	L|S	-|-	1|2	0|0	CNOT6L|CNOT6L	78882446|78882446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.555000|5.555000	0.67301|0.67301	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.388	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			3	23	0	0	0	1	0	3	23				
PLAA	9373	broad.mit.edu	37	9	26905634	26905634	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:26905634C>T	ENST00000397292.3	-	14	2680	c.2263G>A	c.(2263-2265)Gat>Aat	p.D755N		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	755	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TTTGAATCATCACTGATAAGT	0.373																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(2263-2265)Gat>Aat		phospholipase A2-activating protein							107.0	104.0	105.0					9																	26905634		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26905634C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2263G>A	9.37:g.26905634C>T	ENSP00000380460:p.Asp755Asn						p.D755N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	14	2680	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	755			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.2263G>A	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631780	0.46944	.	.	ENSG00000137055	ENST00000397292	T	0.46451	0.87	6.07	6.07	0.98685	PUL (2);	0.294509	0.39475	N	0.001351	T	0.40372	0.1114	L	0.47716	1.5	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20107	-1.0285	10	0.17369	T	0.5	-21.5773	20.6593	0.99626	0.0:1.0:0.0:0.0	.	755	Q9Y263	PLAP_HUMAN	N	755	ENSP00000380460:D755N	ENSP00000380460:D755N	D	-	1	0	PLAA	26895634	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.205000	0.58466	2.885000	0.99019	0.655000	0.94253	GAT		0.373	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		21	88	0	0	0	1	0	21	88				
MEGF8	1954	broad.mit.edu	37	19	42847735	42847735	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:42847735G>C	ENST00000251268.6	+	9	1620	c.1620G>C	c.(1618-1620)ttG>ttC	p.L540F	MEGF8_ENST00000334370.4_Missense_Mutation_p.L540F	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	540					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGGGGACTTGATGGCGTACA	0.667																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1618-1620)ttG>ttC		multiple EGF-like-domains 8							43.0	38.0	40.0					19																	42847735		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42847735G>C	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1620G>C	19.37:g.42847735G>C	ENSP00000251268:p.Leu540Phe					MEGF8_ENST00000251268.6_Missense_Mutation_p.L540F	p.L540F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			9	2255	+		Prostate(69;0.00682)	540					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.1620G>C		.	.	.	.	.	.	.	.	.	.	G	20.4	3.989294	0.74589	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.27890	1.69;1.64	5.12	2.77	0.32553	.	0.000000	0.51477	D	0.000082	T	0.41305	0.1153	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.85130	0.997;0.991	T	0.34976	-0.9807	10	0.72032	D	0.01	-9.3749	3.7265	0.08477	0.0934:0.1617:0.5782:0.1667	.	540;540	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	F	540	ENSP00000334219:L540F;ENSP00000251268:L540F	ENSP00000251268:L540F	L	+	3	2	MEGF8	47539575	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.457000	0.21875	2.386000	0.81285	0.486000	0.48141	TTG		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		11	31	0	0	0	1	0	11	31				
PSIP1	11168	broad.mit.edu	37	9	15468961	15468961	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:15468961C>T	ENST00000380733.4	-	13	1543	c.1200G>A	c.(1198-1200)ctG>ctA	p.L400L	PSIP1_ENST00000380738.4_Silent_p.L400L			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	400					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTACTTTTTTCAGTGTAGTAA	0.328																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(1198-1200)ctG>ctA		PC4 and SFRS1 interacting protein 1							75.0	72.0	73.0					9																	15468961		2202	4300	6502	SO:0001819	synonymous_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15468961C>T	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1200G>A	9.37:g.15468961C>T						PSIP1_ENST00000380738.4_Silent_p.L400L	p.L400L			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	13	1543	-			400					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Silent	SNP	ENST00000380733.4	37	c.1200G>A	CCDS6479.1																																																																																				0.328	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		13	35	0	0	0	1	0	13	35				
MCL1	4170	broad.mit.edu	37	1	150551607	150551607	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:150551607G>A	ENST00000369026.2	-	1	459	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.L134F	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	134	PEST-like.				apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGCTTCCCGAGAGGCTCCGGC	0.697																																						ENST00000369026.2																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8						c.(400-402)Ctc>Ttc		myeloid cell leukemia sequence 1 (BCL2-related)							22.0	25.0	24.0					1																	150551607		2162	4218	6380	SO:0001583	missense	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551607G>A	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.400C>T	1.37:g.150551607G>A	ENSP00000358022:p.Leu134Phe					MCL1_ENST00000307940.3_Missense_Mutation_p.L134F	p.L134F	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	459	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		134			PEST-like.		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	ENST00000369026.2	37	c.400C>T	CCDS957.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390401	0.42410	.	.	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.06608	3.28;3.28	4.99	-0.748	0.11087	.	1.682760	0.03717	N	0.251256	T	0.03695	0.0105	N	0.24115	0.695	0.09310	N	1	D;D	0.62365	0.991;0.976	D;P	0.63877	0.919;0.694	T	0.25082	-1.0142	10	0.44086	T	0.13	-4.0692	3.1563	0.06505	0.3657:0.0:0.3342:0.3001	.	134;134	Q07820-2;Q07820	.;MCL1_HUMAN	F	134;134;63	ENSP00000358022:L134F;ENSP00000309973:L134F	ENSP00000309973:L134F	L	-	1	0	MCL1	148818231	0.990000	0.36364	0.000000	0.03702	0.078000	0.17371	-0.286000	0.08399	-0.299000	0.08909	-0.345000	0.07892	CTC		0.697	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		24	43	0	0	0	1	0	24	43				
ZCCHC4	29063	broad.mit.edu	37	4	25363538	25363538	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:25363538C>T	ENST00000302874.4	+	9	1093	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	357							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AAAACAGTCTCCCGTGCGTAT	0.368																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(1069-1071)Ccc>Tcc		zinc finger, CCHC domain containing 4							70.0	66.0	67.0					4																	25363538		1839	4095	5934	SO:0001583	missense	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25363538C>T	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.1069C>T	4.37:g.25363538C>T	ENSP00000303468:p.Pro357Ser						p.P357S	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			9	1093	+		Breast(46;0.0503)	357					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	ENST00000302874.4	37	c.1069C>T	CCDS43218.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.814176|4.814176	0.90790|0.90790	.|.	.|.	ENSG00000168228|ENSG00000168228	ENST00000302874|ENST00000505412	T|T	0.35048|0.50548	1.33|0.74	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68439|0.68439	0.3001|0.3001	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D|.	0.57257|.	0.979|.	P|.	0.52309|.	0.695|.	T|T	0.72364|0.72364	-0.4316|-0.4316	10|7	0.51188|0.87932	T|D	0.08|0	-11.7977|-11.7977	18.2135|18.2135	0.89878|0.89878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	357|.	Q9H5U6|.	ZCHC4_HUMAN|.	S|F	357|221	ENSP00000303468:P357S|ENSP00000422269:S221F	ENSP00000303468:P357S|ENSP00000422269:S221F	P|S	+|+	1|2	0|0	ZCCHC4|ZCCHC4	24972636|24972636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.254000|6.254000	0.72460|0.72460	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.368	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			8	55	0	0	0	1	0	8	55				
CCDC8	83987	broad.mit.edu	37	19	46914864	46914864	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:46914864C>G	ENST00000307522.3	-	1	1977	c.1204G>C	c.(1204-1206)Gag>Cag	p.E402Q		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	402					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TCTGTAACCTCTGACCCCTGG	0.607																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1204-1206)Gag>Cag		coiled-coil domain containing 8							118.0	107.0	111.0					19																	46914864		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914864C>G	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1204G>C	19.37:g.46914864C>G	ENSP00000303158:p.Glu402Gln						p.E402Q	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1977	-			402					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1204G>C	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.45|14.45	2.538668|2.538668	0.45176|0.45176	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000307522|ENST00000540252	T|.	0.15372|.	2.43|.	3.33|3.33	2.28|2.28	0.28536|0.28536	.|.	0.730122|.	0.11302|.	N|.	0.578170|.	T|T	0.47229|0.47229	0.1434|0.1434	L|L	0.61218|0.61218	1.895|1.895	0.09310|0.09310	N|N	1|1	D|.	0.61697|.	0.99|.	P|.	0.55260|.	0.772|.	T|T	0.38001|0.38001	-0.9681|-0.9681	10|6	0.44086|0.54805	T|T	0.13|0.06	-16.5342|-16.5342	8.7591|8.7591	0.34663|0.34663	0.0:0.8821:0.0:0.1179|0.0:0.8821:0.0:0.1179	.|.	402|.	Q9H0W5|.	CCDC8_HUMAN|.	Q|H	402|248	ENSP00000303158:E402Q|.	ENSP00000303158:E402Q|ENSP00000441180:Q248H	E|Q	-|-	1|3	0|2	CCDC8|CCDC8	51606704|51606704	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.186000|0.186000	0.23388|0.23388	0.898000|0.898000	0.28404|0.28404	0.948000|0.948000	0.37687|0.37687	0.313000|0.313000	0.20887|0.20887	GAG|CAG		0.607	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		16	72	0	0	0	1	0	16	72				
SFRP4	6424	broad.mit.edu	37	7	37956055	37956055	+	Missense_Mutation	SNP	T	T	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:37956055T>C	ENST00000436072.2	-	1	462	c.85A>G	c.(85-87)Atc>Gtc	p.I29V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	29	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACATAGGGATGCGCACCGCC	0.672																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(85-87)Atc>Gtc		secreted frizzled-related protein 4							96.0	79.0	84.0					7																	37956055		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37956055T>C	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.85A>G	7.37:g.37956055T>C	ENSP00000410715:p.Ile29Val					EPDR1_ENST00000476620.1_Intron	p.I29V	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			1	462	-			29			FZ.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.85A>G	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377007	0.82682	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.79352	-1.26	4.62	4.62	0.57501	Frizzled domain (5);	0.051277	0.85682	N	0.000000	T	0.80486	0.4632	L	0.45744	1.44	0.46113	D	0.998874	P	0.36315	0.547	P	0.50896	0.653	T	0.79761	-0.1667	10	0.41790	T	0.15	.	13.1353	0.59405	0.0:0.0:0.0:1.0	.	29	Q6FHJ7	SFRP4_HUMAN	V	29;51	ENSP00000410715:I29V	ENSP00000410715:I29V	I	-	1	0	SFRP4	37922580	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.948000	0.70249	1.924000	0.55735	0.455000	0.32223	ATC		0.672	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		16	74	0	0	0	1	0	16	74				
CASC5	57082	broad.mit.edu	37	15	40915624	40915624	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr15:40915624G>A	ENST00000346991.5	+	11	3630	c.3240G>A	c.(3238-3240)ctG>ctA	p.L1080L	CASC5_ENST00000399668.2_Silent_p.L1054L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1080	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTGGATTTCTGAATGAACCTC	0.353																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(3238-3240)ctG>ctA		cancer susceptibility candidate 5							45.0	43.0	44.0					15																	40915624		1820	4072	5892	SO:0001819	synonymous_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915624G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.3240G>A	15.37:g.40915624G>A						CASC5_ENST00000399668.2_Silent_p.L1054L	p.L1080L			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	3630	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	1080			2 X 104 AA approximate repeats.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Silent	SNP	ENST00000346991.5	37	c.3240G>A	CCDS42023.1																																																																																				0.353	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		17	71	0	0	0	1	0	17	71				
ENTPD8	377841	broad.mit.edu	37	9	140329381	140329381	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:140329381G>A	ENST00000472938.1	-	9	1489	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	ENTPD8_ENST00000371506.2_Silent_p.F491F|ENTPD8_ENST00000344119.2_Silent_p.F454F			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	491					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCTGCAACCAGAAGAGCTGGA	0.677																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(1471-1473)ttC>ttT		ectonucleoside triphosphate diphosphohydrolase 8							51.0	54.0	53.0					9																	140329381		2190	4300	6490	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140329381G>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.1473C>T	9.37:g.140329381G>A						ENTPD8_ENST00000344119.2_Silent_p.F454F|ENTPD8_ENST00000472938.1_Silent_p.F491F	p.F491F	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	10	1656	-	all_cancers(76;0.0926)		491					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.1473C>T	CCDS43913.1																																																																																				0.677	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		7	22	0	0	0	1	0	7	22				
FEN1	2237	broad.mit.edu	37	11	61563263	61563263	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:61563263C>G	ENST00000305885.2	+	2	843	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	TMEM258_ENST00000543510.1_5'Flank|FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GTGCAAACATCTGCTGAGCCT	0.572								Editing and processing nucleases																														ENST00000305885.2																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(430-432)Ctg>Gtg	Editing and processing nucleases	flap structure-specific endonuclease 1							55.0	56.0	56.0					11																	61563263		2202	4299	6501	SO:0001583	missense	2237				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity	g.chr11:61563263C>G	L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"""maturation factor-1"", ""DNase IV"""	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.430C>G	11.37:g.61563263C>G	ENSP00000305480:p.Leu144Val					FADS2_ENST00000574708.1_Intron	p.L144V	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN			2	843	+			144			I-domain.			Missense_Mutation	SNP	ENST00000305885.2	37	c.430C>G	CCDS8010.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812962	0.50527	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.54866	0.55;0.55	5.44	3.55	0.40652	.	0.000000	0.64402	D	0.000001	T	0.76891	0.4051	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.81686	-0.0820	10	0.87932	D	0	-11.0992	10.0796	0.42381	0.0:0.7848:0.0:0.2152	.	144	P39748	FEN1_HUMAN	V	144	ENSP00000305480:L144V;ENSP00000445692:L144V	ENSP00000305480:L144V	L	+	1	2	FEN1	61319839	0.963000	0.33076	0.960000	0.40013	0.924000	0.55760	1.890000	0.39728	1.445000	0.47624	0.561000	0.74099	CTG		0.572	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111		15	62	0	0	0	1	0	15	62				
KIF17	57576	broad.mit.edu	37	1	21042076	21042076	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:21042076C>T	ENST00000247986.2	-	2	598	c.288G>A	c.(286-288)ggG>ggA	p.G96G	KIF17_ENST00000375044.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.G96G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	96	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGAAGGACTTCCCGCTGCCTG	0.647																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(286-288)ggG>ggA		kinesin family member 17							95.0	80.0	85.0					1																	21042076		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21042076C>T	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.288G>A	1.37:g.21042076C>T						KIF17_ENST00000375044.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.G96G	p.G96G			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	2	598	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	96			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.288G>A	CCDS213.1																																																																																				0.647	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		10	62	0	0	0	1	0	10	62				
RTP2	344892	broad.mit.edu	37	3	187416365	187416365	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:187416365C>T	ENST00000358241.1	-	2	1027	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	200					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GAGGCACCAGCGAAGAGACAA	0.587																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(598-600)cGc>cAc		receptor (chemosensory) transporter protein 2							87.0	92.0	90.0					3																	187416365		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416365C>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.599G>A	3.37:g.187416365C>T	ENSP00000350976:p.Arg200His						p.R200H	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	1027	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		200					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.599G>A	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052205	0.55218	.	.	ENSG00000198471	ENST00000358241	T	0.16897	2.31	3.93	3.93	0.45458	.	0.215941	0.30392	N	0.009733	T	0.16300	0.0392	L	0.29908	0.895	0.34495	D	0.705457	D	0.59767	0.986	P	0.47786	0.557	T	0.11743	-1.0575	10	0.44086	T	0.13	-39.1171	11.7599	0.51896	0.0:1.0:0.0:0.0	.	200	Q5QGT7	RTP2_HUMAN	H	200	ENSP00000350976:R200H	ENSP00000350976:R200H	R	-	2	0	RTP2	188899059	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.035000	0.41155	2.494000	0.84150	0.462000	0.41574	CGC		0.587	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		6	59	0	0	0	1	0	6	59				
FSIP2	401024	broad.mit.edu	37	2	186671243	186671243	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:186671243C>T	ENST00000424728.1	+	17	17210	c.17210C>T	c.(17209-17211)tCa>tTa	p.S5737L	FSIP2_ENST00000343098.5_Missense_Mutation_p.S5826L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5737										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GTATCCTCCTCAACTAACAAA	0.368																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17476-17478)tCa>tTa		fibrous sheath interacting protein 2							56.0	53.0	54.0					2																	186671243		1810	4069	5879	SO:0001583	missense	401024							g.chr2:186671243C>T	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17210C>T	2.37:g.186671243C>T	ENSP00000401306:p.Ser5737Leu					FSIP2_ENST00000424728.1_Missense_Mutation_p.S5737L	p.S5826L	NM_173651.2	NP_775922.2					17	17477	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17477C>T		.	.	.	.	.	.	.	.	.	.	C	16.89	3.246529	0.59103	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.56941	0.43;0.44	5.21	3.38	0.38709	.	.	.	.	.	T	0.44767	0.1309	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.37361	-0.9709	7	0.52906	T	0.07	.	8.2837	0.31915	0.0:0.8151:0.0:0.1849	.	.	.	.	L	5826;5737	ENSP00000344403:S5826L;ENSP00000401306:S5737L	ENSP00000344403:S5826L	S	+	2	0	FSIP2	186379488	0.011000	0.17503	0.004000	0.12327	0.017000	0.09413	1.227000	0.32576	1.417000	0.47077	0.591000	0.81541	TCA		0.368	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		26	66	0	0	0	1	0	26	66				
DSG2	1829	broad.mit.edu	37	18	29116340	29116340	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:29116340C>G	ENST00000261590.8	+	11	1808	c.1599C>G	c.(1597-1599)gtC>gtG	p.V533V		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	533					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTTTCTCCGTCATTGACAAAC	0.433																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1597-1599)gtC>gtG		desmoglein 2							69.0	68.0	69.0					18																	29116340		1913	4144	6057	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29116340C>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1599C>G	18.37:g.29116340C>G							p.V533V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		11	1808	+			533					Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.1599C>G	CCDS42423.1																																																																																				0.433	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		13	34	0	0	0	1	0	13	34				
MYBPC1	4604	broad.mit.edu	37	12	102069095	102069095	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:102069095G>A	ENST00000550270.1	+	25	2814	c.2814G>A	c.(2812-2814)gtG>gtA	p.V938V	MYBPC1_ENST00000441232.1_Silent_p.V938V|MYBPC1_ENST00000545503.2_Silent_p.V920V|MYBPC1_ENST00000360610.2_Silent_p.V938V|MYBPC1_ENST00000547405.1_Silent_p.V894V|MYBPC1_ENST00000361685.2_Silent_p.V945V|MYBPC1_ENST00000536007.1_Silent_p.V901V|MYBPC1_ENST00000553190.1_Silent_p.V920V|MYBPC1_ENST00000549145.1_Silent_p.V951V|MYBPC1_ENST00000452455.2_Silent_p.V938V|MYBPC1_ENST00000392934.3_Silent_p.V907V|MYBPC1_ENST00000547509.1_Silent_p.V906V|MYBPC1_ENST00000361466.2_Silent_p.V945V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000551300.1_Silent_p.V821V|MYBPC1_ENST00000541119.1_Silent_p.V908V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	938	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CCCAAATTGTGAAGATTGAGG	0.453																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2851-2853)gtG>gtA		myosin binding protein C, slow type							105.0	87.0	93.0					12																	102069095		2203	4300	6503	SO:0001819	synonymous_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102069095G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2814G>A	12.37:g.102069095G>A						MYBPC1_ENST00000441232.1_Silent_p.V938V|MYBPC1_ENST00000547509.1_Silent_p.V906V|MYBPC1_ENST00000545503.2_Silent_p.V920V|MYBPC1_ENST00000547405.1_Silent_p.V894V|MYBPC1_ENST00000541119.1_Silent_p.V908V|MYBPC1_ENST00000536007.1_Silent_p.V901V|MYBPC1_ENST00000361685.2_Silent_p.V945V|MYBPC1_ENST00000361466.2_Silent_p.V945V|MYBPC1_ENST00000392934.3_Silent_p.V907V|MYBPC1_ENST00000360610.2_Silent_p.V938V|MYBPC1_ENST00000553190.1_Silent_p.V920V|MYBPC1_ENST00000551300.1_Silent_p.V821V|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.V938V|MYBPC1_ENST00000452455.2_Silent_p.V938V	p.V951V			Q00872	MYPC1_HUMAN			26	2953	+			938			Fibronectin type-III 3.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	c.2853G>A	CCDS9085.1																																																																																				0.453	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			4	27	0	0	0	1	0	4	27				
PTPRU	10076	broad.mit.edu	37	1	29638032	29638032	+	Silent	SNP	C	C	T	rs140673849		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:29638032C>T	ENST00000345512.3	+	21	3081	c.2952C>T	c.(2950-2952)atC>atT	p.I984I	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.I980I|PTPRU_ENST00000373779.3_Silent_p.I974I|PTPRU_ENST00000428026.2_Silent_p.I974I|PTPRU_ENST00000323874.8_Silent_p.I980I|PTPRU_ENST00000356870.3_Silent_p.I980I	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	984	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		GTTCCAGCATCGTCATGATCA	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17480	0.0		0.0	False		,,,				2504	0.0					ENST00000373779.3																			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.(2920-2922)atC>atT		protein tyrosine phosphatase, receptor type, U		C	,,,	2,4404	4.2+/-10.8	0,2,2201	121.0	103.0	109.0		2922,2952,2940,2922	-0.8	1.0	1	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRU	NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3	,,,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,,,	974/1434,984/1447,980/1441,974/1437	29638032	3,13003	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.chr1:29638032C>T	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.2952C>T	1.37:g.29638032C>T						PTPRU_ENST00000356870.3_Silent_p.I980I|PTPRU_ENST00000323874.8_Silent_p.I980I|PTPRU_ENST00000428026.2_Silent_p.I974I|PTPRU_ENST00000345512.3_Silent_p.I984I|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.I980I	p.I974I	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	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)	20	3051	+		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)	984			Tyrosine-protein phosphatase 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.2922C>T	CCDS334.1																																																																																				0.637	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			15	61	0	0	0	1	0	15	61				
SLC6A19	340024	broad.mit.edu	37	5	1219654	1219654	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:1219654C>T	ENST00000304460.10	+	10	1469	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	471					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATTGGCTTCATCTTCACGC	0.627																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1411-1413)ttC>ttT		solute carrier family 6 (neutral amino acid transporter), member 19							154.0	129.0	137.0					5																	1219654		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219654C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1413C>T	5.37:g.1219654C>T							p.F471F	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1469	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		471					A8K446	Silent	SNP	ENST00000304460.10	37	c.1413C>T	CCDS34130.1																																																																																				0.627	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		11	22	0	0	0	1	0	11	22				
SPEN	23013	broad.mit.edu	37	1	16260136	16260136	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:16260136C>T	ENST00000375759.3	+	11	7605	c.7401C>T	c.(7399-7401)atC>atT	p.I2467I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2467	Pro-rich.|RID.				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 neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCCAAGCATCCCCATACCCA	0.597																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7399-7401)atC>atT		spen family transcriptional repressor							112.0	92.0	99.0					1																	16260136		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16260136C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7401C>T	1.37:g.16260136C>T							p.I2467I	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7605	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2467			Pro-rich.|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.7401C>T	CCDS164.1																																																																																				0.597	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		13	71	0	0	0	1	0	13	71				
PKHD1L1	93035	broad.mit.edu	37	8	110472020	110472020	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:110472020G>C	ENST00000378402.5	+	47	7305	c.7201G>C	c.(7201-7203)Gag>Cag	p.E2401Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2401					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGATAATGTTGAGTGGAATAA	0.363										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7201-7203)Gag>Cag		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							58.0	54.0	55.0					8																	110472020		1810	4075	5885	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110472020G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7201G>C	8.37:g.110472020G>C	ENSP00000367655:p.Glu2401Gln	HNSCC(38;0.096)					p.E2401Q	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		47	7305	+			2401					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7201G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077787	0.76528	.	.	ENSG00000205038	ENST00000378402	D	0.87966	-2.32	5.37	5.37	0.77165	.	0.065968	0.64402	D	0.000019	D	0.89904	0.6850	M	0.86420	2.815	0.33237	D	0.556645	B	0.28350	0.208	B	0.35039	0.194	D	0.91383	0.5129	10	0.35671	T	0.21	.	16.6032	0.84821	0.0:0.0:1.0:0.0	.	2401	Q86WI1	PKHL1_HUMAN	Q	2401	ENSP00000367655:E2401Q	ENSP00000367655:E2401Q	E	+	1	0	PKHD1L1	110541196	1.000000	0.71417	0.804000	0.32291	0.884000	0.51177	6.192000	0.72069	2.527000	0.85204	0.460000	0.39030	GAG		0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		5	27	0	0	0	1	0	5	27				
CPSF3	51692	broad.mit.edu	37	2	9580747	9580747	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:9580747G>A	ENST00000238112.3	+	8	1094	c.888G>A	c.(886-888)caG>caA	p.Q296Q	CPSF3_ENST00000460593.1_Silent_p.Q259Q	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	296					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|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)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCCGCAAACAGATCAACATCA	0.368																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(775-777)caG>caA		cleavage and polyadenylation specific factor 3, 73kDa							172.0	151.0	158.0					2																	9580747		2203	4300	6503	SO:0001819	synonymous_variant	51692				histone mRNA 3'-end processing|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|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9580747G>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.888G>A	2.37:g.9580747G>A						CPSF3_ENST00000238112.3_Silent_p.Q296Q	p.Q259Q			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	8	1915	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	296					O14769|Q53RS2|Q96F36	Silent	SNP	ENST00000238112.3	37	c.777G>A	CCDS1664.1																																																																																				0.368	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		18	85	0	0	0	1	0	18	85				
SMARCA5	8467	broad.mit.edu	37	4	144457757	144457757	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:144457757C>T	ENST00000283131.3	+	11	1883	c.1421C>T	c.(1420-1422)aCa>aTa	p.T474I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	474					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CCTTATACAACAGATATGCAT	0.383																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1420-1422)aCa>aTa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							100.0	93.0	95.0					4																	144457757		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144457757C>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1421C>T	4.37:g.144457757C>T	ENSP00000283131:p.Thr474Ile						p.T474I	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			11	1883	+	all_hematologic(180;0.158)		474						Missense_Mutation	SNP	ENST00000283131.3	37	c.1421C>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054472	0.93793	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	T	0.75589	-0.95	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.68728	2.09	0.80722	D	1	B	0.17852	0.024	B	0.27715	0.082	T	0.73591	-0.3934	10	0.59425	D	0.04	-22.3257	19.5745	0.95436	0.0:1.0:0.0:0.0	.	474	O60264	SMCA5_HUMAN	I	474;417;417	ENSP00000283131:T474I	ENSP00000283131:T474I	T	+	2	0	SMARCA5	144677207	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.730000	0.84881	2.713000	0.92767	0.655000	0.94253	ACA		0.383	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			15	65	0	0	0	1	0	15	65				
RADIL	55698	broad.mit.edu	37	7	4917288	4917288	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:4917288C>G	ENST00000399583.3	-	2	670	c.483G>C	c.(481-483)aaG>aaC	p.K161N	RADIL_ENST00000536091.1_Missense_Mutation_p.K161N	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	161	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGTCCGACCTCTTCCTCAGCT	0.602																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(481-483)aaG>aaC		Ras association and DIL domains							62.0	74.0	70.0					7																	4917288		2052	4188	6240	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917288C>G	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.483G>C	7.37:g.4917288C>G	ENSP00000382492:p.Lys161Asn					RADIL_ENST00000536091.1_Missense_Mutation_p.K161N	p.K161N	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	670	-		Ovarian(82;0.0175)	161			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.483G>C	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034323	0.54896	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.19394	2.15;2.15	5.69	4.81	0.61882	Ras-association (3);	0.411602	0.24443	N	0.038488	T	0.28732	0.0712	L	0.47716	1.5	0.32639	N	0.52092	D	0.58970	0.984	P	0.54100	0.742	T	0.38757	-0.9646	10	0.48119	T	0.1	-29.2082	9.3272	0.37999	0.0:0.7794:0.1446:0.076	.	161	Q96JH8	RADIL_HUMAN	N	161;135;161	ENSP00000382492:K161N;ENSP00000442533:K161N	ENSP00000320946:K135N	K	-	3	2	RADIL	4883814	0.987000	0.35691	0.048000	0.18961	0.739000	0.42172	2.994000	0.49433	1.414000	0.47017	0.561000	0.74099	AAG		0.602	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		24	52	0	0	0	1	0	24	52				
FBN3	84467	broad.mit.edu	37	19	8203089	8203089	+	Silent	SNP	T	T	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:8203089T>A	ENST00000600128.1	-	10	1551	c.1137A>T	c.(1135-1137)cgA>cgT	p.R379R	FBN3_ENST00000270509.2_Silent_p.R379R|FBN3_ENST00000601739.1_Silent_p.R379R			Q75N90	FBN3_HUMAN	fibrillin 3	379						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGGTTGAGTCGCGCTGGCC	0.662																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1135-1137)cgA>cgT		fibrillin 3							20.0	25.0	23.0					19																	8203089		2202	4294	6496	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8203089T>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1137A>T	19.37:g.8203089T>A						FBN3_ENST00000270509.2_Silent_p.R379R|FBN3_ENST00000601739.1_Silent_p.R379R	p.R379R			Q75N90	FBN3_HUMAN			10	1551	-			379					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.1137A>T	CCDS12196.1																																																																																				0.662	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		7	23	0	0	0	1	0	7	23				
NCOA6	23054	broad.mit.edu	37	20	33331002	33331002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:33331002G>A	ENST00000374796.2	-	12	5628	c.3058C>T	c.(3058-3060)Cag>Tag	p.Q1020*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1020*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1020	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GACTGTGGCTGACTGGGAGGT	0.567																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3058-3060)Cag>Tag		nuclear receptor coactivator 6							63.0	58.0	60.0					20																	33331002		2203	4300	6503	SO:0001587	stop_gained	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33331002G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3058C>T	20.37:g.33331002G>A	ENSP00000363929:p.Gln1020*					NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1020*	p.Q1020*			Q14686	NCOA6_HUMAN			12	5628	-			1020			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	ENST00000374796.2	37	c.3058C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	55	25.087321	0.99963	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	.	.	.	5.3	5.3	0.74995	.	0.276491	0.25771	N	0.028405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-3.2407	18.7513	0.91816	0.0:0.0:1.0:0.0	.	.	.	.	X	1020	.	ENSP00000351894:Q1020X	Q	-	1	0	NCOA6	32794663	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.649000	0.74364	2.756000	0.94617	0.563000	0.77884	CAG		0.567	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		21	102	0	0	0	1	0	21	102				
PCDH10	57575	broad.mit.edu	37	4	134073076	134073076	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:134073076C>T	ENST00000264360.5	+	1	2607	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	594	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)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCGCTCGGCGGAGCCGGGT	0.652																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1780-1782)gCg>gTg		protocadherin 10							19.0	23.0	22.0					4																	134073076		2080	4168	6248	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073076C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1781C>T	4.37:g.134073076C>T	ENSP00000264360:p.Ala594Val						p.A594V	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2607	+			594			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1781C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671004	0.88348	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.55588	0.51	4.5	4.5	0.54988	Cadherin (3);Cadherin-like (1);	0.000000	0.44902	D	0.000402	T	0.61261	0.2333	L	0.28014	0.82	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.85130	0.997;0.784	T	0.64863	-0.6307	10	0.52906	T	0.07	.	17.0032	0.86386	0.0:1.0:0.0:0.0	.	594;594	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	594	ENSP00000264360:A594V	ENSP00000264360:A594V	A	+	2	0	PCDH10	134292526	1.000000	0.71417	0.953000	0.39169	0.363000	0.29612	7.597000	0.82733	2.325000	0.78763	0.655000	0.94253	GCG		0.652	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	47	0	0	0	1	0	12	47				
TSC1	7248	broad.mit.edu	37	9	135771804	135771804	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:135771804C>T	ENST00000298552.3	-	23	3534	c.3313G>A	c.(3313-3315)Gat>Aat	p.D1105N	TSC1_ENST00000545250.1_Missense_Mutation_p.D1054N|TSC1_ENST00000440111.2_Missense_Mutation_p.D1105N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1105					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCGTCCTCATCACACTGGCTC	0.522			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(3313-3315)Gat>Aat		tuberous sclerosis 1							142.0	116.0	125.0					9																	135771804		2203	4300	6503	SO:0001583	missense	7248	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135771804C>T	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.3313G>A	9.37:g.135771804C>T	ENSP00000298552:p.Asp1105Asn					TSC1_ENST00000440111.2_Missense_Mutation_p.D1105N|TSC1_ENST00000545250.1_Missense_Mutation_p.D1054N	p.D1105N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	23	3534	-			1105					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.3313G>A	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130957	0.94473	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.86030	-2.06;-2.06;-1.89	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.92028	0.7474	M	0.70275	2.135	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.79108	0.989;0.992	D	0.92417	0.5942	10	0.72032	D	0.01	-24.9124	18.5822	0.91176	0.0:1.0:0.0:0.0	.	1054;1105	B7Z897;Q92574	.;TSC1_HUMAN	N	1105;1105;1054	ENSP00000298552:D1105N;ENSP00000394524:D1105N;ENSP00000444017:D1054N	ENSP00000298552:D1105N	D	-	1	0	TSC1	134761625	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.945000	0.75947	2.625000	0.88918	0.563000	0.77884	GAT		0.522	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			24	65	0	0	0	1	0	24	65				
TRPV6	55503	broad.mit.edu	37	7	142573563	142573563	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:142573563G>A	ENST00000359396.3	-	7	1102	c.857C>T	c.(856-858)tCa>tTa	p.S286L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	286					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTCATCCCCTGAGGAGTCGAT	0.562																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(856-858)tCa>tTa		transient receptor potential cation channel, subfamily V, member 6							175.0	138.0	151.0					7																	142573563		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573563G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.857C>T	7.37:g.142573563G>A	ENSP00000352358:p.Ser286Leu						p.S286L	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			7	1102	-	Melanoma(164;0.059)		286					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.857C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639510	0.29157	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.41758	0.99	5.08	2.15	0.27550	.	0.246289	0.44285	N	0.000471	T	0.25044	0.0608	L	0.40543	1.245	0.28157	N	0.929133	B	0.09022	0.002	B	0.06405	0.002	T	0.15206	-1.0445	10	0.11485	T	0.65	-0.1138	3.6799	0.08306	0.1006:0.3519:0.4241:0.1234	.	286	Q9H1D0	TRPV6_HUMAN	L	286;118	ENSP00000352358:S286L	ENSP00000310825:S118L	S	-	2	0	TRPV6	142283685	0.980000	0.34600	0.052000	0.19188	0.382000	0.30200	2.397000	0.44477	0.548000	0.28955	0.655000	0.94253	TCA		0.562	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		44	73	0	0	0	1	0	44	73				
ANKFN1	162282	broad.mit.edu	37	17	54526483	54526483	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:54526483G>C	ENST00000318698.2	+	10	1187	c.1152G>C	c.(1150-1152)caG>caC	p.Q384H	ANKFN1_ENST00000566473.2_Missense_Mutation_p.Q384H	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	384										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACAAGGGACAGAGTGAAGTTT	0.463																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1150-1152)caG>caC		ankyrin-repeat and fibronectin type III domain containing 1							118.0	116.0	117.0					17																	54526483		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54526483G>C	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1152G>C	17.37:g.54526483G>C	ENSP00000321627:p.Gln384His					ANKFN1_ENST00000318698.2_Missense_Mutation_p.Q384H	p.Q384H			Q8N957	ANKF1_HUMAN			10	1152	+			384						Missense_Mutation	SNP	ENST00000318698.2	37	c.1152G>C	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	6.606	0.480168	0.12581	.	.	ENSG00000153930	ENST00000318698	T	0.35421	1.31	5.25	5.25	0.73442	Ankyrin repeat-containing domain (1);	0.272649	0.42682	D	0.000679	T	0.20333	0.0489	N	0.16656	0.425	0.36848	D	0.887756	B	0.06786	0.001	B	0.06405	0.002	T	0.13791	-1.0496	10	0.42905	T	0.14	-4.0507	5.6096	0.17398	0.0761:0.1399:0.639:0.145	.	384	Q8N957	ANKF1_HUMAN	H	384	ENSP00000321627:Q384H	ENSP00000321627:Q384H	Q	+	3	2	ANKFN1	51881482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.818000	0.27295	2.460000	0.83146	0.655000	0.94253	CAG		0.463	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		10	65	0	0	0	1	0	10	65				
CYGB	114757	broad.mit.edu	37	17	74527688	74527688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:74527688G>A	ENST00000293230.5	-	2	591	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	CYGB_ENST00000589342.1_Nonsense_Mutation_p.Q77*|CYGB_ENST00000586160.1_5'Flank|CYGB_ENST00000589145.1_Nonsense_Mutation_p.Q12*|CYGB_ENST00000590175.1_Nonsense_Mutation_p.Q12*|PRCD_ENST00000592432.1_Intron	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	77	Globin.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						TTCCGCAGCTGGGGGCTCCGC	0.607																																						ENST00000293230.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						c.(229-231)Cag>Tag		cytoglobin							64.0	64.0	64.0					17																	74527688		2203	4300	6503	SO:0001587	stop_gained	114757				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity	g.chr17:74527688G>A	AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"""stellate cell activation-associated protein"", ""histoglobin"""	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.229C>T	17.37:g.74527688G>A	ENSP00000293230:p.Gln77*					CYGB_ENST00000589145.1_Nonsense_Mutation_p.Q12*|CYGB_ENST00000589342.1_Nonsense_Mutation_p.Q77*|CYGB_ENST00000590175.1_Nonsense_Mutation_p.Q12*|PRCD_ENST00000592432.1_Intron	p.Q77*	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN			2	591	-			77			Globin.		Q541Y7|Q8N2X5	Nonsense_Mutation	SNP	ENST00000293230.5	37	c.229C>T	CCDS11746.1	.	.	.	.	.	.	.	.	.	.	G	37	6.570304	0.97671	.	.	ENSG00000161544	ENST00000293230	.	.	.	5.4	5.4	0.78164	.	0.102733	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-10.9757	19.1688	0.93569	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000293230:Q77X	Q	-	1	0	CYGB	72039283	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.596000	0.82721	2.536000	0.85505	0.462000	0.41574	CAG		0.607	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450590.1	NM_134268		7	54	0	0	0	1	0	7	54				
HIST4H4	121504	broad.mit.edu	37	12	14923862	14923862	+	Missense_Mutation	SNP	C	C	T	rs148045723	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:14923862C>T	ENST00000539745.1	-	1	203	c.157G>A	c.(157-159)Gag>Aag	p.E53K	RP11-174G6.5_ENST00000562691.2_RNA|HIST4H4_ENST00000541592.1_5'Flank	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	53					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CGGGTCTCCTCGTAGATGAGA	0.607											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539745.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						c.(157-159)Gag>Aag		histone cluster 4, H4							71.0	62.0	65.0					12																	14923862		2203	4300	6503	SO:0001583	missense	121504				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr12:14923862C>T	AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"""Histones / Replication-dependent"""	20510	protein-coding gene	gene with protein product		615069	"""histone 4, H4"""			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.157G>A	12.37:g.14923862C>T	ENSP00000443017:p.Glu53Lys		OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	698		p.E53K	NM_175054.2	NP_778224.1	P62805	H4_HUMAN			1	203	-			53					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000539745.1	37	c.157G>A	CCDS8665.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399524	0.83120	.	.	ENSG00000197837	ENST00000539745	T	0.68479	-0.33	4.18	3.28	0.37604	.	0.000000	0.53938	U	0.000057	T	0.71962	0.3402	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.72487	-0.4278	7	0.52906	T	0.07	.	9.9986	0.41916	0.0:0.9001:0.0:0.0999	.	.	.	.	K	53	ENSP00000443017:E53K	ENSP00000350767:E53K	E	-	1	0	HIST4H4	14815129	1.000000	0.71417	0.737000	0.30932	0.928000	0.56348	4.381000	0.59587	1.115000	0.41800	0.650000	0.86243	GAG		0.607	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054		18	42	0	0	0	1	0	18	42				
BRINP1	1620	broad.mit.edu	37	9	121929550	121929550	+	Missense_Mutation	SNP	G	G	C	rs541291613		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:121929550G>C	ENST00000265922.3	-	8	2559	c.2098C>G	c.(2098-2100)Cgg>Ggg	p.R700G	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	700					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)		p.R700W(1)									ATTCGGTCCCGAATATCCAAC	0.572																																						ENST00000265922.3																			1	Substitution - Missense(1)	p.R700W(1)	large_intestine(1)	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.(2098-2100)Cgg>Ggg									108.0	108.0	108.0					9																	121929550		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929550G>C	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.2098C>G	9.37:g.121929550G>C	ENSP00000265922:p.Arg700Gly					DBC1_ENST00000482797.1_Intron	p.R700G	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2559	-			700					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.2098C>G	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136962	0.56936	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.20738	2.05	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	M	0.61703	1.905	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	T	0.31024	-0.9958	10	0.87932	D	0	-26.114	19.9695	0.97278	0.0:0.0:1.0:0.0	.	700	O60477	DBC1_HUMAN	G	700	ENSP00000265922:R700G	ENSP00000265922:R700G	R	-	1	2	DBC1	120969371	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.203000	0.42752	2.799000	0.96334	0.650000	0.86243	CGG		0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		20	87	0	0	0	1	0	20	87				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	133	0	0	0	1	0	5	133				
ATRN	8455	broad.mit.edu	37	20	3557510	3557510	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr20:3557510C>G	ENST00000262919.5	+	14	2287	c.2219C>G	c.(2218-2220)tCc>tGc	p.S740C	ATRN_ENST00000446916.2_Missense_Mutation_p.S740C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	740	PSI 1.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCTAGATCTCCATTTTTAGG	0.433																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2218-2220)tCc>tGc		attractin							101.0	98.0	99.0					20																	3557510		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3557510C>G	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2219C>G	20.37:g.3557510C>G	ENSP00000262919:p.Ser740Cys					ATRN_ENST00000446916.2_Missense_Mutation_p.S740C	p.S740C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			14	2287	+			740			PSI 1.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.2219C>G	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211179	0.58343	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.18338	3.32;2.22	5.29	5.29	0.74685	.	0.173149	0.53938	D	0.000056	T	0.33876	0.0878	L	0.48642	1.525	0.31763	N	0.633062	D;D	0.67145	0.984;0.996	D;P	0.64506	0.926;0.794	T	0.10823	-1.0613	10	0.46703	T	0.11	-16.7078	16.8726	0.86044	0.0:1.0:0.0:0.0	.	740;740	O75882;O75882-2	ATRN_HUMAN;.	C	740;740;666	ENSP00000262919:S740C;ENSP00000416587:S740C	ENSP00000262919:S740C	S	+	2	0	ATRN	3505510	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	5.476000	0.66793	2.758000	0.94735	0.561000	0.74099	TCC		0.433	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		41	153	0	0	0	1	0	41	153				
SLFNL1	200172	broad.mit.edu	37	1	41486213	41486213	+	Silent	SNP	G	G	A	rs146820397	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:41486213G>A	ENST00000359345.1	-	1	2696	c.120C>T	c.(118-120)ctC>ctT	p.L40L	SLFNL1_ENST00000302946.8_Silent_p.L40L|SLFNL1_ENST00000439569.2_Silent_p.L40L|SLFNL1_ENST00000372613.2_Silent_p.L40L|SLFNL1_ENST00000372611.1_Silent_p.L40L|SLFNL1_ENST00000397197.2_Silent_p.L40L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	40							ATP binding (GO:0005524)	p.L40L(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GAGCCTCCTCGAGGTCAGAGT	0.637													G|||	3	0.000599042	0.0	0.0029	5008	,	,		16965	0.0		0.001	False		,,,				2504	0.0					ENST00000359345.1																			1	Substitution - coding silent(1)	p.L40L(1)	lung(1)	endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(118-120)ctC>ctT		schlafen-like 1		G	,	0,4406		0,0,2203	51.0	54.0	53.0		120,120	-2.4	0.0	1	dbSNP_134	53	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	SLFNL1	NM_001168247.1,NM_144990.3	,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,	40/408,40/408	41486213	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	200172						ATP binding	g.chr1:41486213G>A	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.120C>T	1.37:g.41486213G>A						SLFNL1_ENST00000372611.1_Silent_p.L40L|SLFNL1_ENST00000397197.2_Silent_p.L40L|SLFNL1_ENST00000302946.8_Silent_p.L40L|SLFNL1_ENST00000439569.2_Silent_p.L40L|SLFNL1_ENST00000372613.2_Silent_p.L40L	p.L40L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN			1	2696	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	40					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Silent	SNP	ENST00000359345.1	37	c.120C>T	CCDS460.1																																																																																				0.637	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		18	49	0	0	0	1	0	18	49				
PLXNA1	5361	broad.mit.edu	37	3	126740945	126740945	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:126740945G>A	ENST00000393409.2	+	21	4056	c.4056G>A	c.(4054-4056)gaG>gaA	p.E1352E	PLXNA1_ENST00000251772.4_Silent_p.E1329E	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1352					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)		CCAATGTGGAGAAGTCGCTGA	0.627																																						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.(4054-4056)gaG>gaA		plexin A1							65.0	52.0	57.0					3																	126740945		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126740945G>A	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.4056G>A	3.37:g.126740945G>A						PLXNA1_ENST00000251772.4_Silent_p.E1329E	p.E1352E	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	21	4056	+			1352						Silent	SNP	ENST00000393409.2	37	c.4056G>A	CCDS33847.2																																																																																				0.627	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		13	41	0	0	0	1	0	13	41				
C4orf27	54969	broad.mit.edu	37	4	170663224	170663224	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:170663224C>T	ENST00000393381.2	-	5	607	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	178						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTCTTTTTATCCGTTATTTCT	0.358																																						ENST00000393381.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12						c.(532-534)Gat>Aat		chromosome 4 open reading frame 27							113.0	103.0	106.0					4																	170663224		2202	4300	6502	SO:0001583	missense	54969					nucleus		g.chr4:170663224C>T	BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.532G>A	4.37:g.170663224C>T	ENSP00000406598:p.Asp178Asn						p.D178N	NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	5	607	-		Prostate(90;0.00601)|Renal(120;0.0183)	178						Missense_Mutation	SNP	ENST00000393381.2	37	c.532G>A	CCDS3813.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396933	0.42512	.	.	ENSG00000056050	ENST00000393381	T	0.41758	0.99	4.78	4.78	0.61160	.	0.347798	0.34828	N	0.003652	T	0.55273	0.1910	L	0.58428	1.81	0.43977	D	0.996665	D	0.62365	0.991	P	0.57283	0.817	T	0.50320	-0.8842	10	0.25106	T	0.35	-24.5964	18.1798	0.89773	0.0:1.0:0.0:0.0	.	178	Q9NWY4	CD027_HUMAN	N	178	ENSP00000406598:D178N	ENSP00000406598:D178N	D	-	1	0	C4orf27	170899799	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	6.006000	0.70724	2.367000	0.80283	0.563000	0.77884	GAT		0.358	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		20	107	0	0	0	1	0	20	107				
RASGEF1C	255426	broad.mit.edu	37	5	179546440	179546440	+	Missense_Mutation	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:179546440C>G	ENST00000393371.2	-	7	1109	c.813G>C	c.(811-813)aaG>aaC	p.K271N	RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.K271N|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.K120N			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	271	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCTTCTTCTTGGCTGGCT	0.612																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(811-813)aaG>aaC		RasGEF domain family, member 1C							114.0	87.0	96.0					5																	179546440		2203	4300	6503	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179546440C>G	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.813G>C	5.37:g.179546440C>G	ENSP00000377037:p.Lys271Asn					RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.K271N|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.K120N	p.K271N			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1109	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	271			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.813G>C	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894002	0.72639	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.30182	1.54;1.54;1.54	4.5	3.36	0.38483	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	L	0.38649	1.16	0.58432	D	0.999998	P	0.36465	0.554	P	0.52554	0.702	T	0.13872	-1.0493	10	0.22706	T	0.39	.	3.9561	0.09390	0.0:0.6639:0.0:0.3361	.	271	Q8N431	RGF1C_HUMAN	N	271;271;120	ENSP00000354963:K271N;ENSP00000377037:K271N;ENSP00000429114:K120N	ENSP00000354963:K271N	K	-	3	2	RASGEF1C	179479046	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.986000	0.56937	2.235000	0.73313	0.561000	0.74099	AAG		0.612	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		4	27	0	0	0	1	0	4	27				
MUC5B	727897	broad.mit.edu	37	11	1269734	1269734	+	Missense_Mutation	SNP	T	T	C	rs201840224		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:1269734T>C	ENST00000529681.1	+	31	11682	c.11624T>C	c.(11623-11625)gTc>gCc	p.V3875A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V3878A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3875	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCTTCACAGTCACCCCCTCC	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11632-11634)gTc>gCc		mucin 5B, oligomeric mucus/gel-forming		C	ALA/VAL	1,4223		0,1,2111	137.0	161.0	153.0		11624	-4.5	0.0	11		153	2,8436		0,2,4217	no	missense	MUC5B	NM_002458.2	64	0,3,6328	CC,CT,TT		0.0237,0.0237,0.0237	benign	3875/5763	1269734	3,12659	2112	4219	6331	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269734T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11624T>C	11.37:g.1269734T>C	ENSP00000436812:p.Val3875Ala					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.V3875A	p.V3878A			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11691	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3875			11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.11633T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	3.408	-0.120787	0.06838	2.37E-4	2.37E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20200	2.09;2.27	2.25	-4.5	0.03493	.	.	.	.	.	T	0.03390	0.0098	N	0.00162	-1.95	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41734	-0.9492	9	0.87932	D	0	.	0.7329	0.00960	0.2018:0.1805:0.2973:0.3204	.	4403;3878	A7Y9J9;E9PBJ0	.;.	A	3875;3878;3819;3780	ENSP00000436812:V3875A;ENSP00000415793:V3878A	ENSP00000343037:V3819A	V	+	2	0	MUC5B	1226310	0.015000	0.18098	0.000000	0.03702	0.012000	0.07955	-0.726000	0.04936	-2.613000	0.00444	-1.033000	0.02402	GTC		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	82	0	0	0	1	0	5	82				
MRGPRX1	259249	broad.mit.edu	37	11	18956124	18956124	+	Missense_Mutation	SNP	C	C	T	rs567589026		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:18956124C>T	ENST00000302797.3	-	1	432	c.208G>A	c.(208-210)Gca>Aca	p.A70T	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	70					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTCTGCTGCGGCCAAGTTG	0.532																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(208-210)Gca>Aca		MAS-related GPR, member X1							130.0	129.0	130.0					11																	18956124		2194	4285	6479	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956124C>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.208G>A	11.37:g.18956124C>T	ENSP00000305766:p.Ala70Thr					MRGPRX1_ENST00000526914.1_5'UTR	p.A70T	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	432	-			70					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.208G>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	8.032	0.762028	0.15914	.	.	ENSG00000170255	ENST00000302797	T	0.19938	2.11	2.43	-2.54	0.06307	GPCR, rhodopsin-like superfamily (1);	2.339570	0.01866	N	0.036909	T	0.28995	0.0720	M	0.80422	2.495	0.09310	N	1	P	0.44260	0.83	B	0.42386	0.386	T	0.34976	-0.9807	10	0.52906	T	0.07	.	5.023	0.14370	0.0:0.3685:0.2965:0.335	.	70	Q96LB2	MRGX1_HUMAN	T	70	ENSP00000305766:A70T	ENSP00000305766:A70T	A	-	1	0	MRGPRX1	18912700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.567000	0.05916	-1.096000	0.03046	-1.579000	0.00862	GCA		0.532	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		26	127	0	0	0	1	0	26	127				
PPP4R4	57718	broad.mit.edu	37	14	94700935	94700935	+	Silent	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:94700935C>G	ENST00000304338.3	+	7	814	c.660C>G	c.(658-660)ctC>ctG	p.L220L		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	220					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TAAAATCACTCTGTCAAGATG	0.373																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(658-660)ctC>ctG		protein phosphatase 4, regulatory subunit 4							139.0	131.0	133.0					14																	94700935		2203	4300	6503	SO:0001819	synonymous_variant	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94700935C>G	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.660C>G	14.37:g.94700935C>G							p.L220L	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			7	814	+			220					Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	c.660C>G	CCDS9921.1																																																																																				0.373	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		7	37	0	0	0	1	0	7	37				
SYT1	6857	broad.mit.edu	37	12	79679678	79679678	+	Missense_Mutation	SNP	G	G	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:79679678G>T	ENST00000261205.4	+	5	935	c.278G>T	c.(277-279)gGa>gTa	p.G93V	SYT1_ENST00000457153.2_Missense_Mutation_p.G93V|SYT1_ENST00000552744.1_Missense_Mutation_p.G93V|SYT1_ENST00000393240.3_Missense_Mutation_p.G93V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	93					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGAAGAAGGGAAAGGAAAAA	0.363																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(277-279)gGa>gTa		synaptotagmin I							134.0	127.0	130.0					12																	79679678		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79679678G>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.278G>T	12.37:g.79679678G>T	ENSP00000261205:p.Gly93Val					SYT1_ENST00000393240.3_Missense_Mutation_p.G93V|SYT1_ENST00000457153.2_Missense_Mutation_p.G93V|SYT1_ENST00000552744.1_Missense_Mutation_p.G93V	p.G93V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			5	935	+			93					Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.278G>T	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144754	0.77888	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.63	5.63	0.86233	.	0.214824	0.48286	D	0.000197	T	0.49712	0.1573	M	0.68317	2.08	0.80722	D	1	B;B	0.26318	0.146;0.146	B;B	0.18871	0.023;0.023	T	0.43718	-0.9374	10	0.40728	T	0.16	.	19.6675	0.95898	0.0:0.0:1.0:0.0	.	93;93	Q6AI31;P21579	.;SYT1_HUMAN	V	93	ENSP00000376932:G93V;ENSP00000261205:G93V;ENSP00000391056:G93V;ENSP00000447035:G93V;ENSP00000447575:G93V;ENSP00000448861:G93V;ENSP00000401559:G93V	ENSP00000261205:G93V	G	+	2	0	SYT1	78203809	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.826000	0.97356	0.655000	0.94253	GGA		0.363	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		13	65	1	0	5.50884e-06	1	5.63054e-06	13	65				
MTCH1	23787	broad.mit.edu	37	6	36946345	36946345	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr6:36946345C>T	ENST00000373627.5	-	3	573	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	MTCH1_ENST00000373616.5_Missense_Mutation_p.R150Q|MTCH1_ENST00000538808.1_5'UTR	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	150					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACTCAGGCCTCGGAACAGCCC	0.577																																						ENST00000373627.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(448-450)cGa>cAa		mitochondrial carrier 1							155.0	123.0	134.0					6																	36946345		2203	4300	6503	SO:0001583	missense	23787				activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr6:36946345C>T	AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"""Solute carriers"""	17586	protein-coding gene	gene with protein product	"""solute carrier family 25, member 49"""	610449	"""mitochondrial carrier homolog 1 (C. elegans)"""			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.449G>A	6.37:g.36946345C>T	ENSP00000362730:p.Arg150Gln					MTCH1_ENST00000373616.5_Missense_Mutation_p.R150Q|MTCH1_ENST00000538808.1_5'UTR	p.R150Q	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN			3	573	-			150					A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	ENST00000373627.5	37	c.449G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.234736	0.95207	.	.	ENSG00000137409	ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373550;ENST00000460219	T;T;T	0.81078	-1.45;-1.45;-1.45	5.71	5.71	0.89125	Mitochondrial carrier domain (2);	0.192315	0.32736	N	0.005704	D	0.87665	0.6234	M	0.70842	2.15	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	P;P;D	0.72982	0.728;0.574;0.979	D	0.88192	0.2878	10	0.72032	D	0.01	-4.6043	18.0213	0.89255	0.0:1.0:0.0:0.0	.	132;150;150	Q8IW90;Q9NZJ7;Q9NZJ7-2	.;MTCH1_HUMAN;.	Q	150;150;86;86;134	ENSP00000362718:R150Q;ENSP00000362730:R150Q;ENSP00000419739:R134Q	ENSP00000338712:R86Q	R	-	2	0	MTCH1	37054323	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.440000	0.59975	2.699000	0.92147	0.655000	0.94253	CGA		0.577	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040396.1	NM_014341		21	71	0	0	0	1	0	21	71				
PTPRE	5791	broad.mit.edu	37	10	129868020	129868020	+	Missense_Mutation	SNP	G	G	A	rs368612656		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:129868020G>A	ENST00000254667.3	+	13	1351	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	PTPRE_ENST00000306042.5_Missense_Mutation_p.E300K|PTPRE_ENST00000419012.2_Missense_Mutation_p.E358K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	358	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GATGCACGCGGAGCAGAAGGT	0.547											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1072-1074)Gag>Aag		protein tyrosine phosphatase, receptor type, E		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	274.0	226.0	242.0		1072,898	5.0	0.9	10		242	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRE	NM_006504.4,NM_130435.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	358/701,300/643	129868020	1,13005	2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129868020G>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1072G>A	10.37:g.129868020G>A	ENSP00000254667:p.Glu358Lys		OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1575	PTPRE_ENST00000419012.2_Missense_Mutation_p.E358K|PTPRE_ENST00000306042.5_Missense_Mutation_p.E300K	p.E358K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			13	1351	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	358			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1072G>A	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279077	0.80692	0.0	1.16E-4	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	D;D;D	0.84589	-1.87;-1.87;-1.87	5.0	5.0	0.66597	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.91233	0.7237	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.76494	0.999;0.988;0.957;0.988	D;P;P;P	0.68353	0.957;0.897;0.742;0.897	D	0.91523	0.5236	10	0.56958	D	0.05	.	18.1016	0.89507	0.0:0.0:1.0:0.0	.	336;358;300;358	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	K	358;336;358;300	ENSP00000254667:E358K;ENSP00000402337:E358K;ENSP00000303350:E300K	ENSP00000254667:E358K	E	+	1	0	PTPRE	129758010	1.000000	0.71417	0.949000	0.38748	0.117000	0.20001	9.621000	0.98376	2.595000	0.87683	0.655000	0.94253	GAG		0.547	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			29	106	0	0	0	1	0	29	106				
FRAS1	80144	broad.mit.edu	37	4	79351553	79351553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr4:79351553C>T	ENST00000325942.6	+	37	5391	c.4951C>T	c.(4951-4953)Cga>Tga	p.R1651*	FRAS1_ENST00000264895.6_Nonsense_Mutation_p.R1651*	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1651					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCTGAGTTCCGAAGGCCGAT	0.498																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4951-4953)Cga>Tga		Fraser syndrome 1							56.0	57.0	57.0					4																	79351553		1948	4167	6115	SO:0001587	stop_gained	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79351553C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4951C>T	4.37:g.79351553C>T	ENSP00000326330:p.Arg1651*					FRAS1_ENST00000325942.6_Nonsense_Mutation_p.R1651*	p.R1651*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			37	5391	+			1650					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000325942.6	37	c.4951C>T	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.109861|3.109861	0.56398|0.56398	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000510944|ENST00000325942;ENST00000264895;ENST00000545316	.|.	.|.	.|.	5.68|5.68	3.0|3.0	0.34707|0.34707	.|.	.|0.879148	.|0.10254	.|N	.|0.696777	T|.	0.30230|.	0.0758|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999994|0.999994	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24941|.	-1.0146|.	4|.	.|0.15952	.|T	.|0.53	.|.	10.447|10.447	0.44499|0.44499	0.0:0.7867:0.0:0.2133|0.0:0.7867:0.0:0.2133	.|.	.|.	.|.	.|.	L|X	100|1651;1651;71	.|.	.|ENSP00000264895:R1651X	P|R	+|+	2|1	0|2	FRAS1|FRAS1	79570577|79570577	0.052000|0.052000	0.20516|0.20516	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	1.771000|1.771000	0.38542|0.38542	0.413000|0.413000	0.25759|0.25759	-0.229000|-0.229000	0.12294|0.12294	CCG|CGA		0.498	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			8	26	0	0	0	1	0	8	26				
CCDC155	147872	broad.mit.edu	37	19	49920332	49920332	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:49920332G>C	ENST00000447857.3	+	18	1640	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	479						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AAACCCTCCAGAGAGGTAATA	0.607																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(1435-1437)Gag>Cag		coiled-coil domain containing 155							19.0	20.0	19.0					19																	49920332		1854	4108	5962	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49920332G>C		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1435G>C	19.37:g.49920332G>C	ENSP00000404220:p.Glu479Gln						p.E479Q	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			18	1640	+			479					Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.1435G>C	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	g	8.231	0.804669	0.16467	.	.	ENSG00000161609	ENST00000447857	T	0.36699	1.24	3.2	-0.283	0.12874	.	1.101380	0.07008	N	0.824646	T	0.28830	0.0715	M	0.63428	1.95	0.09310	N	0.999993	B;B	0.34290	0.447;0.241	B;B	0.26969	0.075;0.075	T	0.20773	-1.0265	10	0.21540	T	0.41	-4.8804	5.8289	0.18568	0.3715:0.0:0.6285:0.0	.	479;479	C9JGW3;Q8N6L0	.;CC155_HUMAN	Q	479	ENSP00000404220:E479Q	ENSP00000404220:E479Q	E	+	1	0	CCDC155	54612144	0.407000	0.25352	0.541000	0.28102	0.029000	0.11900	0.455000	0.21843	0.051000	0.15978	-0.268000	0.10319	GAG		0.607	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		3	14	0	0	0	1	0	3	14				
PDE9A	5152	broad.mit.edu	37	21	44152179	44152179	+	Splice_Site	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:44152179G>C	ENST00000291539.6	+	6	502		c.e6-1		PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398232.3_Splice_Site|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000398236.3_Splice_Site	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TTGGTTTGTAGAGAGAGAAGA	0.507																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.e6-1		phosphodiesterase 9A							93.0	86.0	89.0					21																	44152179		2203	4300	6503	SO:0001630	splice_region_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44152179G>C	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.443-1G>C	21.37:g.44152179G>C						PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398236.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000470987.1_Splice_Site		NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			6	502	+								B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Splice_Site	SNP	ENST00000291539.6	37		CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439855	0.43326	.	.	ENSG00000160191	ENST00000335512;ENST00000291539;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000398225;ENST00000398224	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4177	0.83748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE9A	43025248	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	4.809000	0.62591	2.385000	0.81259	0.650000	0.86243	.		0.507	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1		Intron	10	48	0	0	0	1	0	10	48				
FIBIN	387758	broad.mit.edu	37	11	27016448	27016448	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:27016448G>A	ENST00000318627.2	+	1	821	c.375G>A	c.(373-375)caG>caA	p.Q125Q		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	125						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AGTCCCACCAGATCGGGGATG	0.602																																						ENST00000318627.2																			0				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						c.(373-375)caG>caA		fin bud initiation factor homolog (zebrafish)							64.0	55.0	58.0					11																	27016448		2203	4299	6502	SO:0001819	synonymous_variant	387758					extracellular region|Golgi apparatus		g.chr11:27016448G>A	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.375G>A	11.37:g.27016448G>A							p.Q125Q	NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN			1	821	+			125						Silent	SNP	ENST00000318627.2	37	c.375G>A	CCDS7861.1																																																																																				0.602	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		18	54	0	0	0	1	0	18	54				
METTL10	399818	broad.mit.edu	37	10	126454034	126454034	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr10:126454034C>T	ENST00000368836.2	-	5	579	c.543G>A	c.(541-543)ttG>ttA	p.L181L	Y_RNA_ENST00000362596.1_RNA|RP11-12J10.3_ENST00000494792.1_Silent_p.*146*	NM_212554.2	NP_997719.2	Q5JPI9	MET10_HUMAN	methyltransferase like 10	181							methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		CTTTTACTTTCAACACCCTGG	0.353																																						ENST00000494792.1																			0											c.(436-438)tGa>tAa									168.0	169.0	168.0					10																	126454034		2203	4300	6503	SO:0001819	synonymous_variant	399818							g.chr10:126454034C>T		CCDS31307.1	10q26.13	2010-01-15			ENSG00000203791	ENSG00000203791			33787	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 138"""	C10orf138			Standard	NM_212554		Approved	Em:AC068896.3	uc001lhy.1	Q5JPI9	OTTHUMG00000019217	ENST00000368836.2:c.543G>A	10.37:g.126454034C>T						METTL10_ENST00000368836.2_Silent_p.L181L	p.*146*							5	436	-								A8MPY7	Silent	SNP	ENST00000368836.2	37	c.437G>A	CCDS31307.1																																																																																				0.353	METTL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050884.1	NM_212554		36	134	0	0	0	1	0	36	134				
SLC4A10	57282	broad.mit.edu	37	2	162751237	162751237	+	Missense_Mutation	SNP	T	T	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:162751237T>G	ENST00000446997.1	+	11	1336	c.1243T>G	c.(1243-1245)Tca>Gca	p.S415A	SLC4A10_ENST00000535165.1_Nonsense_Mutation_p.Y385*|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S385A|SLC4A10_ENST00000415876.2_Missense_Mutation_p.S385A|SLC4A10_ENST00000375514.5_Missense_Mutation_p.S396A|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S415A|SLC4A10_ENST00000493021.1_3'UTR	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	415					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TGACTTGGTATCAGGAATTGA	0.343																																						ENST00000535165.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1153-1155)taT>taG		solute carrier family 4, sodium bicarbonate transporter, member 10							115.0	108.0	110.0					2																	162751237		1830	4082	5912	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162751237T>G		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1243T>G	2.37:g.162751237T>G	ENSP00000393066:p.Ser415Ala					SLC4A10_ENST00000415876.2_Missense_Mutation_p.S385A|SLC4A10_ENST00000375514.5_Missense_Mutation_p.S396A|SLC4A10_ENST00000446997.1_Missense_Mutation_p.S415A|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S385A|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.S415A	p.Y385*			Q6U841	S4A10_HUMAN			10	1276	+			0					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Nonsense_Mutation	SNP	ENST00000446997.1	37	c.1155T>G	CCDS54411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	34|34	5.312222|5.312222	0.95655|0.95655	.|.	.|.	ENSG00000144290|ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711|ENST00000535165	T;T;T;T;T|.	0.78481|.	-1.18;-1.18;-1.18;-1.18;-1.18|.	5.43|5.43	4.21|4.21	0.49690|0.49690	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);|.	0.119134|.	0.56097|.	D|.	0.000027|.	T|.	0.20210|.	0.0486|.	N|N	0.01003|0.01003	-1.06|-1.06	0.41873|0.41873	D|D	0.990287|0.990287	B;B;B;B|.	0.09022|.	0.0;0.0;0.0;0.002|.	B;B;B;B|.	0.12156|.	0.007;0.004;0.007;0.004|.	T|.	0.18023|.	-1.0350|.	10|.	0.02654|.	T|.	1|.	.|.	12.6474|12.6474	0.56742|0.56742	0.0:0.0:0.2859:0.7141|0.0:0.0:0.2859:0.7141	.|.	396;415;385;415|.	F8W675;E7EW28;Q6U841-2;Q6U841|.	.;.;.;S4A10_HUMAN|.	A|X	396;385;385;384;415;415;414|385	ENSP00000364664:S396A;ENSP00000395797:S385A;ENSP00000272716:S385A;ENSP00000393066:S415A;ENSP00000404486:S415A|.	ENSP00000272716:S385A|.	S|Y	+|+	1|3	0|2	SLC4A10|SLC4A10	162459483|162459483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.601000|3.601000	0.54059|0.54059	2.197000|2.197000	0.70478|0.70478	0.533000|0.533000	0.62120|0.62120	TCA|TAT		0.343	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		15	40	0	0	0	1	0	15	40				
LRRIQ1	84125	broad.mit.edu	37	12	85515476	85515476	+	Splice_Site	SNP	G	G	A	rs147514803		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:85515476G>A	ENST00000393217.2	+	16	3440	c.3379G>A	c.(3379-3381)Gat>Aat	p.D1127N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1127	LRRCT.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTCAATAGGGATTCTCTACT	0.333																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.e16-1		leucine-rich repeats and IQ motif containing 1		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	72.0	70.0	70.0		3379	-5.0	0.3	12	dbSNP_134	70	0,8600		0,0,4300	yes	missense-near-splice	LRRIQ1	NM_001079910.1	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1127/1723	85515476	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	84125							g.chr12:85515476G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3378-1G>A	12.37:g.85515476G>A							p.D1127_splice	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	16	3440	+			1127			LRRCT.		Q567P4|Q9BS17|Q9HA36	Splice_Site	SNP	ENST00000393217.2	37	c.3377_splice	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	2.518	-0.311445	0.05422	2.27E-4	0.0	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.25912	1.77	5.48	-4.98	0.03019	.	0.841714	0.10668	N	0.647953	T	0.06781	0.0173	N	0.08118	0	0.22424	N	0.999117	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35475	-0.9787	10	0.02654	T	1	.	0.595	0.00735	0.2318:0.232:0.2882:0.248	.	1127;1102	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	1127;1102;1127	ENSP00000376910:D1127N	ENSP00000256007:D1127N	D	+	1	0	LRRIQ1	84039607	0.006000	0.16342	0.276000	0.24689	0.087000	0.18053	-1.503000	0.02277	-0.955000	0.03636	-1.196000	0.01674	GAT		0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	Missense_Mutation	24	76	0	0	0	1	0	24	76				
SFN	2810	broad.mit.edu	37	1	27190297	27190297	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:27190297C>T	ENST00000339276.4	+	1	665	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGACCACTTTCGACGAGGCCA	0.602																																						ENST00000339276.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9						c.(592-594)ttC>ttT		stratifin							112.0	104.0	107.0					1																	27190297		2203	4300	6503	SO:0001819	synonymous_variant	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190297C>T	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.594C>T	1.37:g.27190297C>T							p.F198F	NM_006142.3	NP_006133.1	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	665	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	198					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	ENST00000339276.4	37	c.594C>T	CCDS288.1																																																																																				0.602	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		22	76	0	0	0	1	0	22	76				
ERICH3	127254	broad.mit.edu	37	1	75038215	75038215	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:75038215C>T	ENST00000326665.5	-	14	3397	c.3179G>A	c.(3178-3180)cGa>cAa	p.R1060Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1060	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						AGCTTTCCTTCGCTCTCTTGC	0.428																																						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.(3178-3180)cGa>cAa		chromosome 1 open reading frame 173							158.0	168.0	165.0					1																	75038215		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038215C>T																												ENST00000326665.5:c.3179G>A	1.37:g.75038215C>T	ENSP00000322609:p.Arg1060Gln					C1orf173_ENST00000433746.2_5'UTR	p.R1060Q	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3397	-			1060			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3179G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286708	0.23478	.	.	ENSG00000178965	ENST00000326665	T	0.13420	2.59	4.06	-0.351	0.12602	.	.	.	.	.	T	0.01523	0.0049	N	0.22421	0.69	0.19775	N	0.999954	P	0.46656	0.882	B	0.36922	0.236	T	0.29671	-1.0004	9	0.13108	T	0.6	-10.433	1.0092	0.01493	0.157:0.3462:0.1444:0.3525	.	1060	Q5RHP9	CA173_HUMAN	Q	1060	ENSP00000322609:R1060Q	ENSP00000322609:R1060Q	R	-	2	0	C1orf173	74810803	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.544000	0.06077	-0.158000	0.11040	0.561000	0.74099	CGA		0.428	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			31	139	0	0	0	1	0	31	139				
PEBP1	5037	broad.mit.edu	37	12	118577301	118577301	+	Silent	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:118577301C>A	ENST00000261313.2	+	3	643	c.291C>A	c.(289-291)atC>atA	p.I97I	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	97	Interaction with RAF1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAATGACATCAGCAGTGGCA	0.537																																					NSCLC(44;94 1357 12187 49467)	ENST00000261313.2																			0				ovary(1)	1						c.(289-291)atC>atA		phosphatidylethanolamine binding protein 1							151.0	129.0	137.0					12																	118577301		2203	4300	6503	SO:0001819	synonymous_variant	5037						ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity	g.chr12:118577301C>A	X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"""Raf kinase inhibitory protein"", ""hippocampal cholinergic neurostimulating peptide"""	604591	"""prostatic binding protein"""	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.291C>A	12.37:g.118577301C>A						PEBP1_ENST00000542939.1_3'UTR	p.I97I	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN			3	643	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		97					B2R4S1	Silent	SNP	ENST00000261313.2	37	c.291C>A	CCDS9187.1																																																																																				0.537	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567		23	73	1	0	2.21704e-12	1	2.33946e-12	23	73				
MYH7	4625	broad.mit.edu	37	14	23900999	23900999	+	Missense_Mutation	SNP	G	G	A	rs397516259		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:23900999G>A	ENST00000355349.3	-	7	772	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	204	Myosin motor.		R -> H (in CMH1). {ECO:0000269|PubMed:12707239}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGCTGCGGTCCCCAATG	0.572																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(610-612)Cgc>Tgc		myosin, heavy chain 7, cardiac muscle, beta							113.0	103.0	106.0					14																	23900999		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23900999G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.610C>T	14.37:g.23900999G>A	ENSP00000347507:p.Arg204Cys						p.R204C	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	7	772	-	all_cancers(95;2.54e-05)		204		R -> H (in CMH1).	Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.610C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130698	0.56828	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87887	-2.31	3.12	3.12	0.35913	Myosin head, motor domain (2);	.	.	.	.	D	0.86104	0.5853	L	0.47190	1.495	0.53688	D	0.999976	D	0.61080	0.989	P	0.49752	0.621	D	0.87515	0.2442	9	0.87932	D	0	.	12.4864	0.55874	0.0:0.0:1.0:0.0	.	204	P12883	MYH7_HUMAN	C	204	ENSP00000347507:R204C	ENSP00000347507:R204C	R	-	1	0	MYH7	22970839	0.985000	0.35326	1.000000	0.80357	0.907000	0.53573	2.874000	0.48483	1.754000	0.51921	0.305000	0.20034	CGC		0.572	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		14	104	0	0	0	1	0	14	104				
COL22A1	169044	broad.mit.edu	37	8	139707101	139707101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:139707101C>A	ENST00000303045.6	-	33	3060	c.2614G>T	c.(2614-2616)Gag>Tag	p.E872*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E872*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	872	Collagen-like 7.|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)			TCGCCCTTCTCTCCTTTGGGC	0.617										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.(2614-2616)Gag>Tag		collagen, type XXII, alpha 1							96.0	91.0	92.0					8																	139707101		2203	4300	6503	SO:0001587	stop_gained	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139707101C>A	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.2614G>T	8.37:g.139707101C>A	ENSP00000303153:p.Glu872*	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E872*|COL22A1_ENST00000341807.4_5'UTR	p.E872*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		33	3060	-	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)		872			Collagen-like 7.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	ENST00000303045.6	37	c.2614G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	43	9.938654	0.99300	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	3.69	3.69	0.42338	.	0.145674	0.30850	U	0.008754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	11.1051	0.48199	0.0:1.0:0.0:0.0	.	.	.	.	X	872;872;585	.	ENSP00000303153:E872X	E	-	1	0	COL22A1	139776283	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	1.784000	0.38674	2.040000	0.60383	0.551000	0.68910	GAG		0.617	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		9	31	1	0	4.1943e-16	1	4.47426e-16	9	31				
GALNT16	57452	broad.mit.edu	37	14	69805469	69805469	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:69805469G>A	ENST00000337827.4	+	10	1396	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	GALNT16_ENST00000448469.3_Missense_Mutation_p.E357K|GALNT16_ENST00000553669.1_Missense_Mutation_p.E357K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	357					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CAACTTCCCTGAGGGTAATGC	0.597																																						ENST00000337827.4																			0											c.(1069-1071)Gag>Aag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16							111.0	88.0	95.0					14																	69805469		2203	4300	6503	SO:0001583	missense	57452							g.chr14:69805469G>A	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1069G>A	14.37:g.69805469G>A	ENSP00000336729:p.Glu357Lys					GALNT16_ENST00000553669.1_Missense_Mutation_p.E357K|GALNT16_ENST00000448469.3_Missense_Mutation_p.E357K	p.E357K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					10	1396	+								Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.1069G>A	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519845	0.85495	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.64803	-0.12;-0.12;-0.12	5.5	5.5	0.81552	.	0.047738	0.85682	D	0.000000	T	0.53190	0.1781	N	0.17474	0.49	0.80722	D	1	P;P	0.46395	0.799;0.877	B;B	0.43194	0.272;0.411	T	0.61178	-0.7115	10	0.72032	D	0.01	.	19.3771	0.94514	0.0:0.0:1.0:0.0	.	357;357	Q8N428;Q58A55	GLTL1_HUMAN;.	K	357	ENSP00000336729:E357K;ENSP00000402970:E357K;ENSP00000451200:E357K	ENSP00000336729:E357K	E	+	1	0	GALNTL1	68875222	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	9.615000	0.98356	2.572000	0.86782	0.591000	0.81541	GAG		0.597	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		13	28	0	0	0	1	0	13	28				
SEMA3A	10371	broad.mit.edu	37	7	83675760	83675760	+	Splice_Site	SNP	C	C	G			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:83675760C>G	ENST00000265362.4	-	6	862		c.e6-1		SEMA3A_ENST00000436949.1_Splice_Site	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AATTCTCCATCTGTGTTGTGA	0.398																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.e6-1		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							151.0	139.0	143.0					7																	83675760		2203	4300	6503	SO:0001630	splice_region_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83675760C>G	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.548-1G>C	7.37:g.83675760C>G						SEMA3A_ENST00000436949.1_Splice_Site		NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			6	862	-									Splice_Site	SNP	ENST00000265362.4	37		CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645476	0.87859	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA3A	83513696	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.433000	0.80362	2.779000	0.95612	0.650000	0.86243	.		0.398	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	Intron	35	119	0	0	0	1	0	35	119				
LMOD1	25802	broad.mit.edu	37	1	201868762	201868762	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:201868762C>T	ENST00000367288.4	-	2	1625	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	460					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GACAGTCATTCGGGGCCCGGC	0.562																																						ENST00000367288.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1378-1380)cGa>cAa		leiomodin 1 (smooth muscle)							40.0	41.0	41.0					1																	201868762		1997	4163	6160	SO:0001583	missense	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868762C>T	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1379G>A	1.37:g.201868762C>T	ENSP00000356257:p.Arg460Gln					RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	p.R460Q	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN			2	1625	-			460					B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	ENST00000367288.4	37	c.1379G>A	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914861	0.92178	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	D	0.94897	-3.55	4.4	4.4	0.53042	.	0.000000	0.35262	N	0.003332	D	0.96197	0.8760	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.98;0.986	D	0.96726	0.9536	10	0.87932	D	0	-15.8779	14.4962	0.67688	0.0:1.0:0.0:0.0	.	409;460	B4E3S9;P29536	.;LMOD1_HUMAN	Q	460;460;409	ENSP00000356257:R460Q	ENSP00000356257:R460Q	R	-	2	0	LMOD1	200135385	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	7.692000	0.84203	1.962000	0.57031	0.557000	0.71058	CGA		0.562	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			6	19	0	0	0	1	0	6	19				
CLDN8	9073	broad.mit.edu	37	21	31587582	31587582	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr21:31587582C>T	ENST00000399899.1	-	1	809	c.662G>A	c.(661-663)aGa>aAa	p.R221K	CLDN8_ENST00000286809.1_Missense_Mutation_p.R221K	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	221					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						ATACTGACTTCTGGAGTAGAC	0.383																																						ENST00000399899.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						c.(661-663)aGa>aAa		claudin 8							121.0	112.0	115.0					21																	31587582		2203	4300	6503	SO:0001583	missense	9073				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31587582C>T	AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.662G>A	21.37:g.31587582C>T	ENSP00000382783:p.Arg221Lys					CLDN8_ENST00000286809.1_Missense_Mutation_p.R221K	p.R221K	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN			1	809	-			221					D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	c.662G>A	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	C	0.073	-1.198932	0.01581	.	.	ENSG00000156284	ENST00000399899;ENST00000286809	D;D	0.82711	-1.64;-1.64	4.85	-4.81	0.03180	.	0.522526	0.19797	N	0.105828	T	0.53384	0.1793	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55075	-0.8197	10	0.02654	T	1	.	6.5212	0.22277	0.1106:0.358:0.0:0.5314	.	221	P56748	CLD8_HUMAN	K	221	ENSP00000382783:R221K;ENSP00000286809:R221K	ENSP00000286809:R221K	R	-	2	0	CLDN8	30509453	0.954000	0.32549	0.430000	0.26722	0.460000	0.32559	-0.041000	0.12084	-0.948000	0.03668	-0.142000	0.14014	AGA		0.383	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328		30	105	0	0	0	1	0	30	105				
LIMS2	55679	broad.mit.edu	37	2	128414994	128414994	+	Nonsense_Mutation	SNP	C	C	A	rs374235568		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:128414994C>A	ENST00000355119.4	-	2	319	c.154G>T	c.(154-156)Gag>Tag	p.E52*	LIMS2_ENST00000545738.2_Nonsense_Mutation_p.E74*|LIMS2_ENST00000324938.5_Nonsense_Mutation_p.E76*|LIMS2_ENST00000409808.2_Nonsense_Mutation_p.E47*|LIMS2_ENST00000410011.1_Nonsense_Mutation_p.E47*|LIMS2_ENST00000409455.1_Nonsense_Mutation_p.E47*	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	52	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		AAGAGCCCCTCGGGGAAGGGC	0.632																																						ENST00000409455.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(139-141)Gag>Tag		LIM and senescent cell antigen-like domains 2							76.0	71.0	73.0					2																	128414994		2203	4300	6503	SO:0001587	stop_gained	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128414994C>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.154G>T	2.37:g.128414994C>A	ENSP00000347240:p.Glu52*					LIMS2_ENST00000410011.1_Nonsense_Mutation_p.E47*|LIMS2_ENST00000545738.2_Nonsense_Mutation_p.E74*|LIMS2_ENST00000324938.5_Nonsense_Mutation_p.E76*|LIMS2_ENST00000355119.4_Nonsense_Mutation_p.E52*|LIMS2_ENST00000409808.2_Nonsense_Mutation_p.E47*	p.E47*			Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	2	774	-	Colorectal(110;0.1)		52			LIM zinc-binding 1.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Nonsense_Mutation	SNP	ENST00000355119.4	37	c.139G>T	CCDS54395.1	.	.	.	.	.	.	.	.	.	.	.	38	6.865307	0.97897	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	.	.	.	5.25	5.25	0.73442	.	0.119956	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.8407	0.92183	0.0:1.0:0.0:0.0	.	.	.	.	X	74;52;76;47;47;47;47;74;47	.	ENSP00000326888:E76X	E	-	1	0	LIMS2	128131464	1.000000	0.71417	0.984000	0.44739	0.955000	0.61496	7.376000	0.79658	2.449000	0.82847	0.462000	0.41574	GAG		0.632	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2	NM_017980		25	63	1	0	1.13719e-10	1	1.19425e-10	25	63				
SF3A3	10946	broad.mit.edu	37	1	38453301	38453301	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:38453301C>T	ENST00000373019.4	-	4	1202	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Intron	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	83					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTATAGAATTCAGCAAACTCA	0.398																																						ENST00000373019.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12						c.(247-249)Gaa>Aaa		splicing factor 3a, subunit 3, 60kDa							112.0	114.0	113.0					1																	38453301		2203	4300	6503	SO:0001583	missense	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38453301C>T	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.247G>A	1.37:g.38453301C>T	ENSP00000362110:p.Glu83Lys					SF3A3_ENST00000448721.2_Intron|SF3A3_ENST00000489537.1_5'UTR	p.E83K	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN			4	1202	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	83					D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	ENST00000373019.4	37	c.247G>A	CCDS428.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724840	0.89298	.	.	ENSG00000183431	ENST00000373019	.	.	.	5.6	5.6	0.85130	Splicing factor SF3a60 binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	M	0.74647	2.275	0.80722	D	1	B	0.33512	0.415	B	0.38921	0.285	T	0.73266	-0.4037	9	0.51188	T	0.08	-18.666	19.6316	0.95708	0.0:1.0:0.0:0.0	.	83	Q12874	SF3A3_HUMAN	K	83	.	ENSP00000362110:E83K	E	-	1	0	SF3A3	38225888	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.684000	0.84104	2.642000	0.89623	0.557000	0.71058	GAA		0.398	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		26	106	0	0	0	1	0	26	106				
EHBP1L1	254102	broad.mit.edu	37	11	65351862	65351862	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr11:65351862G>A	ENST00000309295.4	+	10	3509	c.3244G>A	c.(3244-3246)Gac>Aac	p.D1082N		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1082	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTCTACCCAGACAAGATGTG	0.602																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(3244-3246)Gac>Aac		EH domain binding protein 1-like 1							43.0	49.0	47.0					11																	65351862		2148	4251	6399	SO:0001583	missense	254102							g.chr11:65351862G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3244G>A	11.37:g.65351862G>A	ENSP00000312671:p.Asp1082Asn						p.D1082N	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			10	3509	+			1082			CH.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.3244G>A	CCDS44649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.216285|5.216285	0.95104|0.95104	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000309295;ENST00000533237|ENST00000533465	D;D|.	0.95307|.	-3.67;-3.67|.	5.31|5.31	5.31|5.31	0.75309|0.75309	Calponin homology domain (5);|.	0.069734|.	0.56097|.	D|.	0.000038|.	T|T	0.63379|0.63379	0.2506|0.2506	L|L	0.45470|0.45470	1.425|1.425	0.80722|0.80722	D|D	1|1	B;P|.	0.48998|.	0.359;0.918|.	P;P|.	0.55824|.	0.583;0.785|.	T|T	0.59521|0.59521	-0.7439|-0.7439	10|5	0.66056|.	D|.	0.02|.	.|.	16.4624|16.4624	0.84064|0.84064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	499;1082|.	E9PIH6;Q8N3D4|.	.;EH1L1_HUMAN|.	N|K	1082;499|131	ENSP00000312671:D1082N;ENSP00000431996:D499N|.	ENSP00000312671:D1082N|.	D|R	+|+	1|2	0|0	EHBP1L1|EHBP1L1	65108438|65108438	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.991000|0.991000	0.79684|0.79684	9.383000|9.383000	0.97214|0.97214	2.505000|2.505000	0.84491|0.84491	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.602	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		19	35	0	0	0	1	0	19	35				
ACVR1C	130399	broad.mit.edu	37	2	158443739	158443739	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr2:158443739G>A	ENST00000243349.8	-	2	624	c.264C>T	c.(262-264)ttC>ttT	p.F88F	ACVR1C_ENST00000348328.5_Silent_p.F88F|ACVR1C_ENST00000335450.7_Silent_p.F88F|ACVR1C_ENST00000409680.3_Silent_p.F38F	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						AAAAATCTGTGAAGCAGCATT	0.388																																						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.(262-264)ttC>ttT		activin A receptor, type IC							212.0	201.0	204.0					2																	158443739		2203	4300	6503	SO:0001819	synonymous_variant	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158443739G>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.264C>T	2.37:g.158443739G>A						ACVR1C_ENST00000348328.5_Silent_p.F88F|ACVR1C_ENST00000335450.7_Silent_p.F88F|ACVR1C_ENST00000409680.3_Silent_p.F38F	p.F88F	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			2	624	-			88						Silent	SNP	ENST00000243349.8	37	c.264C>T	CCDS2205.1																																																																																				0.388	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		43	193	0	0	0	1	0	43	193				
NOS1	4842	broad.mit.edu	37	12	117768313	117768313	+	Missense_Mutation	SNP	C	C	T	rs529671468		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:117768313C>T	ENST00000338101.4	-	1	566	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	NOS1_ENST00000317775.6_Missense_Mutation_p.A188T|NOS1_ENST00000344089.3_Missense_Mutation_p.A188T|NOS1_ENST00000549189.1_5'Flank			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Ala-rich.				cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.A188T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCTTTCTTCGCGGGGTCCTGG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16458	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			1	Substitution - Missense(1)	p.A188T(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(562-564)Gcg>Acg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						80.0	87.0	84.0					12																	117768313		1995	4176	6171	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768313C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.562G>A	12.37:g.117768313C>T	ENSP00000337459:p.Ala188Thr					NOS1_ENST00000338101.4_Missense_Mutation_p.A188T|NOS1_ENST00000344089.3_Missense_Mutation_p.A188T	p.A188T	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1247	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		188			Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.			Missense_Mutation	SNP	ENST00000338101.4	37	c.562G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	8.985	0.976185	0.18736	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.05199	5.0;3.48;5.0	4.74	1.82	0.25136	.	1.602270	0.03266	N	0.184023	T	0.04497	0.0123	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39643	-0.9604	10	0.08179	T	0.78	-10.0904	5.4331	0.16464	0.0:0.5281:0.1399:0.3321	.	188	P29475	NOS1_HUMAN	T	188	ENSP00000320758:A188T;ENSP00000339862:A188T;ENSP00000337459:A188T	ENSP00000320758:A188T	A	-	1	0	NOS1	116252696	0.000000	0.05858	0.008000	0.14137	0.054000	0.15201	-0.374000	0.07484	0.586000	0.29626	0.555000	0.69702	GCG		0.632	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			15	117	0	0	0	1	0	15	117				
XKR4	114786	broad.mit.edu	37	8	56015561	56015561	+	Silent	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr8:56015561C>T	ENST00000327381.6	+	1	613	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	171						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCACGATTTCAGCACCGAGG	0.667											OREG0006933	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=XKR4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(511-513)ttC>ttT		XK, Kell blood group complex subunit-related family, member 4							40.0	30.0	33.0					8																	56015561		2203	4296	6499	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56015561C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.513C>T	8.37:g.56015561C>T			OREG0006933	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=XKR4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1012		p.F171F	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	613	+			171					Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.513C>T	CCDS34893.1																																																																																				0.667	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		14	28	0	0	0	1	0	14	28				
ZNF585B	92285	broad.mit.edu	37	19	37678011	37678011	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr19:37678011G>A	ENST00000532828.2	-	5	679	c.428C>T	c.(427-429)tCa>tTa	p.S143L	ZNF585B_ENST00000527838.1_Missense_Mutation_p.S143L|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S88L|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	143					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)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGAACTGTGACTTCCAGGT	0.388																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(427-429)tCa>tTa		zinc finger protein 585B							86.0	87.0	87.0					19																	37678011		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37678011G>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.428C>T	19.37:g.37678011G>A	ENSP00000433773:p.Ser143Leu					ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S88L|ZNF585B_ENST00000527838.1_Missense_Mutation_p.S143L|CTC-454I21.3_ENST00000585860.2_Intron	p.S143L	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	679	-			143					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.428C>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	1.248	-0.619332	0.03663	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000527838	T;T;T	0.30981	1.51;1.51;6.55	2.71	1.64	0.23874	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.633028	0.12108	N	0.498839	T	0.31009	0.0783	M	0.73430	2.235	0.18873	N	0.999987	B	0.09022	0.002	B	0.04013	0.001	T	0.35126	-0.9801	10	0.72032	D	0.01	.	5.2521	0.15527	0.1289:0.2094:0.6617:0.0	.	143	Q52M93	Z585B_HUMAN	L	88;143;143	ENSP00000436774:S88L;ENSP00000433773:S143L;ENSP00000435268:S143L	ENSP00000435268:S143L	S	-	2	0	ZNF585B	42369851	0.001000	0.12720	0.028000	0.17463	0.017000	0.09413	0.692000	0.25482	0.455000	0.26910	-0.391000	0.06502	TCA		0.388	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		31	105	0	0	0	1	0	31	105				
CPA3	1359	broad.mit.edu	37	3	148614436	148614436	+	Missense_Mutation	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:148614436G>A	ENST00000296046.3	+	11	1248	c.1196G>A	c.(1195-1197)aGa>aAa	p.R399K	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	399					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCAACGTGCAGAGAGACCATG	0.418																																						ENST00000296046.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(1195-1197)aGa>aAa		carboxypeptidase A3 (mast cell)							106.0	109.0	108.0					3																	148614436		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148614436G>A		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.1196G>A	3.37:g.148614436G>A	ENSP00000296046:p.Arg399Lys					RP11-680B3.2_ENST00000488190.1_RNA	p.R399K	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		11	1248	+			399					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.1196G>A	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	6.497	0.459980	0.12342	.	.	ENSG00000163751	ENST00000296046	T	0.10477	2.87	5.37	1.79	0.24919	Peptidase M14, carboxypeptidase A (2);	0.216416	0.47852	N	0.000206	T	0.03178	0.0093	N	0.01705	-0.755	0.21697	N	0.999585	B	0.02656	0.0	B	0.04013	0.001	T	0.46261	-0.9204	10	0.11182	T	0.66	.	7.9712	0.30127	0.7481:0.0:0.2519:0.0	.	399	P15088	CBPA3_HUMAN	K	399	ENSP00000296046:R399K	ENSP00000296046:R399K	R	+	2	0	CPA3	150097126	0.014000	0.17966	0.998000	0.56505	0.713000	0.41058	1.019000	0.30014	0.371000	0.24564	-0.469000	0.05056	AGA		0.418	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		57	81	0	0	0	1	0	57	81				
CBX8	57332	broad.mit.edu	37	17	77768657	77768657	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:77768657G>C	ENST00000269385.4	-	5	1064	c.947C>G	c.(946-948)tCt>tGt	p.S316C	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	316					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCCCCCAGAGCTGGGGGG	0.682																																						ENST00000269385.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14						c.(946-948)tCt>tGt		chromobox homolog 8							11.0	14.0	13.0					17																	77768657		2166	4238	6404	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768657G>C	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.947C>G	17.37:g.77768657G>C	ENSP00000269385:p.Ser316Cys						p.S316C	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1064	-			316					Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.947C>G	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	g	13.34	2.208146	0.39003	.	.	ENSG00000141570	ENST00000269385	T	0.49139	0.79	4.47	4.47	0.54385	.	0.900014	0.09663	N	0.772207	T	0.47710	0.1460	L	0.29908	0.895	0.09310	N	1	D	0.57899	0.981	P	0.51193	0.662	T	0.38735	-0.9647	10	0.87932	D	0	-10.3638	11.5463	0.50696	0.0:0.0:0.8211:0.1789	.	316	Q9HC52	CBX8_HUMAN	C	316	ENSP00000269385:S316C	ENSP00000269385:S316C	S	-	2	0	CBX8	75383252	0.165000	0.22948	0.865000	0.33974	0.361000	0.29550	2.980000	0.49321	2.499000	0.84300	0.550000	0.68814	TCT		0.682	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		10	19	0	0	0	1	0	10	19				
TMEM132D	121256	broad.mit.edu	37	12	129558525	129558525	+	Silent	SNP	G	G	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:129558525G>A	ENST00000422113.2	-	9	3521	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	TMEM132D_ENST00000389441.4_Silent_p.I603I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1065					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)		TACTCATCACGATGGAGTTCC	0.517																																						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.(3193-3195)atC>atT		transmembrane protein 132D							167.0	160.0	162.0					12																	129558525		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129558525G>A	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.3195C>T	12.37:g.129558525G>A						TMEM132D_ENST00000389441.4_Silent_p.I603I	p.I1065I	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)	9	3521	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1065					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.3195C>T	CCDS9266.1																																																																																				0.517	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		34	130	0	0	0	1	0	34	130				
AHNAK2	113146	broad.mit.edu	37	14	105417917	105417917	+	Missense_Mutation	SNP	G	G	C			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:105417917G>C	ENST00000333244.5	-	7	3990	c.3871C>G	c.(3871-3873)Ctg>Gtg	p.L1291V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1291						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)			ACACTGGGCAGAGACACAGCC	0.632																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3871-3873)Ctg>Gtg		AHNAK nucleoprotein 2							65.0	58.0	61.0					14																	105417917		1894	3231	5125	SO:0001583	missense	113146					nucleus		g.chr14:105417917G>C	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.3871C>G	14.37:g.105417917G>C	ENSP00000353114:p.Leu1291Val					AHNAK2_ENST00000557457.1_Intron	p.L1291V	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	3990	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1291					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3871C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	8.836	0.941065	0.18281	.	.	ENSG00000185567	ENST00000333244	T	0.01313	5.02	4.21	1.26	0.21427	.	.	.	.	.	T	0.01489	0.0048	L	0.48174	1.505	0.09310	N	1	B	0.32573	0.376	B	0.31686	0.134	T	0.48603	-0.9021	9	0.19590	T	0.45	-27.5745	5.3019	0.15783	0.1832:0.3182:0.4985:0.0	.	1291	Q8IVF2	AHNK2_HUMAN	V	1291	ENSP00000353114:L1291V	ENSP00000353114:L1291V	L	-	1	2	AHNAK2	104488962	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.997000	0.03705	-0.036000	0.13669	-0.339000	0.08088	CTG		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		46	198	0	0	0	1	0	46	198				
CORO2A	7464	broad.mit.edu	37	9	100892109	100892109	+	Missense_Mutation	SNP	C	C	T			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr9:100892109C>T	ENST00000343933.5	-	8	1191	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CORO2A_ENST00000375077.4_Missense_Mutation_p.E312K	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	312					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGCGGTACTCAGTCAGGTAG	0.562																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(934-936)Gag>Aag		coronin, actin binding protein, 2A							190.0	147.0	162.0					9																	100892109		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100892109C>T	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.934G>A	9.37:g.100892109C>T	ENSP00000343746:p.Glu312Lys					CORO2A_ENST00000375077.4_Missense_Mutation_p.E312K	p.E312K	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			8	1191	-		Acute lymphoblastic leukemia(62;0.0559)	312					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.934G>A	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528278	0.85706	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.31247	1.5;1.5	4.99	4.1	0.47936	WD40 repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.049211	0.85682	D	0.000000	T	0.58409	0.2120	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.66056	-0.6018	10	0.56958	D	0.05	-18.7978	12.6006	0.56494	0.0:0.9186:0.0:0.0814	.	312	Q92828	COR2A_HUMAN	K	312	ENSP00000343746:E312K;ENSP00000364218:E312K	ENSP00000343746:E312K	E	-	1	0	CORO2A	99931930	1.000000	0.71417	0.409000	0.26459	0.998000	0.95712	7.228000	0.78079	1.339000	0.45563	0.555000	0.69702	GAG		0.562	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		45	160	0	0	0	1	0	45	160				
METTL2B	55798	broad.mit.edu	37	7	128138151	128138151	+	Nonsense_Mutation	SNP	C	C	T	rs567098989		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:128138151C>T	ENST00000262432.8	+	7	908	c.871C>T	c.(871-873)Cga>Tga	p.R291*	METTL2B_ENST00000480046.1_Nonsense_Mutation_p.R226*	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	291					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTACTTCTGCGAGATTACGG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18891	0.001		0.0	False		,,,				2504	0.0					ENST00000480046.1																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(676-678)Cga>Tga		methyltransferase like 2B							124.0	118.0	120.0					7																	128138151		2203	4300	6503	SO:0001587	stop_gained	55798						methyltransferase activity	g.chr7:128138151C>T	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.871C>T	7.37:g.128138151C>T	ENSP00000262432:p.Arg291*					METTL2B_ENST00000262432.8_Nonsense_Mutation_p.R291*	p.R226*			Q6P1Q9	MTL2B_HUMAN			6	791	+			291					B4DZ68|Q0IJ54|Q3B7J1	Nonsense_Mutation	SNP	ENST00000262432.8	37	c.676C>T	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852550	0.51270	.	.	ENSG00000165055	ENST00000262432;ENST00000480046;ENST00000481392	.	.	.	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9549	12.7326	0.57206	0.0:1.0:0.0:0.0	.	.	.	.	X	291;226;55	.	ENSP00000262432:R291X	R	+	1	2	METTL2B	127925387	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	4.256000	0.58810	1.903000	0.55091	0.195000	0.17529	CGA		0.478	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		25	68	0	0	0	1	0	25	68				
RPTN	126638	broad.mit.edu	37	1	152128637	152128640	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr1:152128637_152128640delTGTC	ENST00000316073.3	-	3	999_1002	c.935_938delGACA	c.(934-939)agacaafs	p.RQ312fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	312	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.515																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(934-939)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128637_152128640delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.935_938delGACA	1.37:g.152128645_152128648delTGTC	ENSP00000317895:p.Arg312fs						p.RQ312fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	999_1002	-			312			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.935_938delGACA	CCDS41397.1																																																																																				0.515	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	1066						7	1066	---	---	---	---
EMC3-AS1	442075	broad.mit.edu	37	3	10035779	10035783	+	RNA	DEL	AGTCT	AGTCT	-	rs35714562|rs199577504		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr3:10035779_10035783delAGTCT	ENST00000326237.3	+	0	354																											GGGGAAGAGAAGTCTGATCTGACAT	0.38																																						ENST00000326237.3																			0																																																			442075							g.chr3:10035779_10035783delAGTCT																													3.37:g.10035779_10035783delAGTCT														0	354	+									RNA	DEL	ENST00000326237.3	37																																																																																						0.380	AC034193.5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339468.1			10	56						10	56	---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156908825	156908825	+	Frame_Shift_Del	DEL	G	G	-	rs34145949		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr5:156908825delG	ENST00000517905.1	-	22	2721	c.2677delC	c.(2677-2679)cggfs	p.R893fs	ADAM19_ENST00000257527.4_Frame_Shift_Del_p.R893fs|ADAM19_ENST00000430702.2_Intron|ADAM19_ENST00000394020.1_Frame_Shift_Del_p.R895fs			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	893					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAGAGGCCGGGACTGCTGA	0.667																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2677-2679)ggfs		ADAM metallopeptidase domain 19							13.0	15.0	14.0					5																	156908825		2199	4293	6492	SO:0001589	frameshift_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156908825delG	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.2677delC	5.37:g.156908825delG	ENSP00000428654:p.Arg893fs					ADAM19_ENST00000394020.1_Frame_Shift_Del_p.R895fs|ADAM19_ENST00000517905.1_Frame_Shift_Del_p.R893fs|ADAM19_ENST00000430702.2_Intron	p.R893fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		22	2755	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	893					Q9BZL5|Q9UHP2	Frame_Shift_Del	DEL	ENST00000517905.1	37	c.2677delC																																																																																					0.667	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		2	4						2	4	---	---	---	---
ZNRF2P2	100271874	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366				MIR550A3_ENST00000390735.2_RNA	NR_024278.1				zinc and ring finger 2 pseudogene 2																		CTCTCAGATCAGTGATGCCCTG	0.485													GG|G|GG|deletion	1162	0.232029	0.3238	0.3055	5008	,	,		15903	0.0486		0.3012	False		,,,				2504	0.1738					ENST00000426767.1																			0																																																			100271874							g.chr7:29720482_29720483insG			7p14.3	2011-08-22			ENSG00000239968	ENSG00000225264			42793	pseudogene	pseudogene							Standard	NR_027347		Approved				OTTHUMG00000152750		7.37:g.29720483_29720483dupG								NR_024278.1						0	366	-									RNA	INS	ENST00000426767.1	37																																																																																						0.485	ZNRF2P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000327679.1	NR_027347		8	21						8	21	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578584	99578584	+	RNA	DEL	G	G	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr7:99578584delG	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		GCATATGGCAGGAACAGGTGT	0.562																																						ENST00000425474.1																			0																																																			646282							g.chr7:99578584delG	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578584delG								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.562	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			10	49						10	49	---	---	---	---
TAS2R10	50839	broad.mit.edu	37	12	10978281	10978282	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:10978281_10978282insA	ENST00000240619.2	-	1	675_676	c.587_588insT	c.(586-588)ttafs	p.L196fs		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	196					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATACA	0.347																																						ENST00000240619.2																			0				breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(586-588)tatfs		taste receptor, type 2, member 10																																				SO:0001589	frameshift_variant	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978281_10978282insA	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.588dupT	12.37:g.10978288_10978288dupA	ENSP00000240619:p.Leu196fs						p.Y196fs	NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN			1	675_676	-			196					Q3MIM9|Q6NTD9	Frame_Shift_Ins	INS	ENST00000240619.2	37	c.587_588insT	CCDS8634.1																																																																																				0.347	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			39	106						39	106	---	---	---	---
GIT2	9815	broad.mit.edu	37	12	110390897	110390899	+	Splice_Site	DEL	CTT	CTT	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr12:110390897_110390899delCTT	ENST00000355312.3	-	13	1239_1241	c.1240_1242delAAG	c.(1240-1242)aagdel	p.K414del	GIT2_ENST00000551209.1_Splice_Site_p.K413del|GIT2_ENST00000361006.5_Splice_Site_p.K414del|GIT2_ENST00000457474.2_Splice_Site_p.K416del|GIT2_ENST00000547815.1_Splice_Site_p.K414del|GIT2_ENST00000320063.9_Splice_Site_p.K414del|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000360185.4_Splice_Site_p.K414del|GIT2_ENST00000338373.5_Splice_Site_p.K414del|GIT2_ENST00000356259.4_Splice_Site_p.K414del|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000354574.4_Splice_Site_p.K416del|GIT2_ENST00000553118.1_Splice_Site_p.K414del	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	414					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GGCCTCTCACCTTCTGCCGGTTT	0.542																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.e13+1		G protein-coupled receptor kinase interacting ArfGAP 2																																				SO:0001630	splice_region_variant	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110390897_110390899delCTT	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1242+1AAG>-	12.37:g.110390897_110390899delCTT						GIT2_ENST00000343646.5_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000355312.3_Splice_Site_p.K414_splice|GIT2_ENST00000547815.1_Splice_Site_p.K414_splice|GIT2_ENST00000338373.5_Splice_Site_p.K414_splice|GIT2_ENST00000553118.1_Splice_Site_p.K414_splice|GIT2_ENST00000551209.1_Splice_Site_p.K413_splice|GIT2_ENST00000356259.4_Splice_Site_p.K414_splice|GIT2_ENST00000354574.4_Splice_Site_p.K416_splice|GIT2_ENST00000457474.2_Splice_Site_p.K416_splice|GIT2_ENST00000320063.9_Splice_Site_p.K414_splice|GIT2_ENST00000361006.5_Splice_Site_p.K414_splice	p.K414_splice			Q14161	GIT2_HUMAN			13	1404_1406	-			464					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Splice_Site	DEL	ENST00000355312.3	37	c.1242_splice	CCDS9138.1																																																																																				0.542	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169	In_Frame_Del	20	38						20	38	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3880-3882)afs		apoptotic chromatin condensation inducer 1																																				SO:0001589	frameshift_variant	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528502_23528503delTC	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3880_3881delGA	14.37:g.23528512_23528513delTC	ENSP00000262710:p.Glu1294fs		OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs	p.E1294fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4207_4208	-	all_cancers(95;1.36e-05)		1294			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Frame_Shift_Del	DEL	ENST00000262710.1	37	c.3880_3881delGA	CCDS9587.1																																																																																				0.629	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		7	50						7	50	---	---	---	---
IGHV3-20	28445	broad.mit.edu	37	14	106667892	106667893	+	RNA	DEL	AC	AC	-	rs201914172|rs374250106	byFrequency	TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr14:106667892_106667893delAC	ENST00000390606.2	-	0	108				AB019440.50_ENST00000605005.1_lincRNA					immunoglobulin heavy variable 3-20																		ACACCTGCAAACACAGAGACAC	0.53														365	0.0728834	0.0961	0.0519	5008	,	,		10820	0.002		0.0924	False		,,,				2504	0.1094					ENST00000390606.2																			0																																																			28445							g.chr14:106667892_106667893delAC	M99657		14q32.33	2012-02-08			ENSG00000211946	ENSG00000211946		"""Immunoglobulins / IGH locus"""	5585	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152285		14.37:g.106667894_106667895delAC														0	108	-									RNA	DEL	ENST00000390606.2	37																																																																																						0.530	IGHV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325673.1	NG_001019		7	97						7	97	---	---	---	---
PEX12	5193	broad.mit.edu	37	17	33900515	33900516	+	IGR	DEL	AA	AA	-	rs577012773		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr17:33900515_33900516delAA	ENST00000225873.4	-	0	2675				SNORD7_ENST00000384567.1_RNA|RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12						peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		accctgtcttaaaaaaaaaaag	0.411																																						ENST00000592381.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:33900515_33900516delAA	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951		17.37:g.33900523_33900524delAA														0	382	+								B2R6M2	RNA	DEL	ENST00000225873.4	37		CCDS11296.1																																																																																				0.411	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		2	4						2	4	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	112482	112482	+	RNA	DEL	C	C	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chr18:112482delC	ENST00000608049.1	+	0	389					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		AGGGGTGCTTCCAGCGAGGCG	0.622																																						ENST00000576266.1																			0																																																			727758							g.chr18:112482delC			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.112482delC														0	116	+									RNA	DEL	ENST00000608049.1	37																																																																																						0.622	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			7	43						7	43	---	---	---	---
SAT1	6303	broad.mit.edu	37	X	23802146	23802147	+	Frame_Shift_Ins	INS	-	-	A	rs372110787		TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:23802146_23802147insA	ENST00000379253.3	+	3	527_528	c.348_349insA	c.(349-351)aaafs	p.K117fs	SAT1_ENST00000489394.1_Intron|SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379270.4_Intron|RP13-314C10.5_ENST00000366134.2_RNA|Y_RNA_ENST00000365402.1_RNA|SAT1_ENST00000379251.3_Frame_Shift_Ins_p.K147fs			Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.N150fs*13(3)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10						AACTACTGAGGAAAAAAAAAAA	0.396																																						ENST00000379253.3																			3	Deletion - Frameshift(3)	p.N150fs*13(3)	large_intestine(3)	breast(1)|endometrium(3)|kidney(3)|lung(3)	10						c.(346-351)agaaaafs		spermidine/spermine N1-acetyltransferase 1	Spermine(DB00127)																																			SO:0001589	frameshift_variant	6303				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	g.chrX:23802146_23802147insA	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379253.3:c.359dupA	X.37:g.23802157_23802157dupA	ENSP00000368555:p.Lys117fs					SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379251.3_Frame_Shift_Ins_p.RK146fs|SAT1_ENST00000489394.1_Intron|SAT1_ENST00000379270.4_Intron	p.RK116fs			P21673	SAT1_HUMAN			3	527_528	+			0			N-acetyltransferase.		A8K9N2|Q7Z5R3|Q96BK0	Frame_Shift_Ins	INS	ENST00000379253.3	37	c.348_349insA																																																																																					0.396	SAT1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000056058.1	NM_002970		2	4						2	4	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140984806	140984806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TN-A7HL-01A-11D-A34J-08	TCGA-TN-A7HL-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8928f33c-515b-49b4-ab24-c99d8c12c35a	cd211e89-63f7-44f0-8a76-51703ae45112	g.chrX:140984806delC	ENST00000298296.1	+	7	1262	c.1262delC	c.(1261-1263)tccfs	p.S421fs	MAGEC3_ENST00000443323.2_Frame_Shift_Del_p.S43fs|MAGEC3_ENST00000409007.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000536088.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000544766.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000483584.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	421										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGCTCATCCCCTCTTTTG	0.572																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1261-1263)tcfs		melanoma antigen family C, 3							30.0	27.0	28.0					X																	140984806		2203	4300	6503	SO:0001589	frameshift_variant	139081							g.chrX:140984806delC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1262delC	X.37:g.140984806delC	ENSP00000298296:p.Ser421fs					MAGEC3_ENST00000409007.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000544766.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000536088.1_Frame_Shift_Del_p.S123fs|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Frame_Shift_Del_p.S43fs	p.S421fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			7	1262	+	Acute lymphoblastic leukemia(192;6.56e-05)		421					Q3SYA7|Q5JZ43|Q9BZ80	Frame_Shift_Del	DEL	ENST00000298296.1	37	c.1262delC	CCDS14676.1																																																																																				0.572	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		8	12						8	12	---	---	---	---
