#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
MC5R	4161	broad.mit.edu	37	18	13826231	13826231	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr18:13826231C>T	ENST00000324750.3	+	1	689	c.467C>T	c.(466-468)gCg>gTg	p.A156V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	156					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATGACGGCGAGGCGCTCA	0.577																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(466-468)gCg>gTg		melanocortin 5 receptor							186.0	170.0	176.0					18																	13826231		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826231C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.467C>T	18.37:g.13826231C>T	ENSP00000318077:p.Ala156Val						p.A156V	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	689	+			156					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.467C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	c	0.018	-1.474723	0.01035	.	.	ENSG00000176136	ENST00000324750	T	0.71817	-0.6	5.01	-5.32	0.02722	GPCR, rhodopsin-like superfamily (1);	0.306379	0.34959	N	0.003551	T	0.27697	0.0681	N	0.00686	-1.255	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.46076	-0.9217	10	0.09590	T	0.72	.	9.637	0.39814	0.0:0.1203:0.1158:0.7639	.	156	P33032	MC5R_HUMAN	V	156	ENSP00000318077:A156V	ENSP00000318077:A156V	A	+	2	0	MC5R	13816231	0.999000	0.42202	0.000000	0.03702	0.260000	0.26232	1.671000	0.37513	-1.010000	0.03396	-1.254000	0.01491	GCG		0.577	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		51	165	0	0	0	1	0	51	165				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																54718							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	81	0	0	0	1	0	4	81				
MRPS15	64960	broad.mit.edu	37	1	36929427	36929427	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:36929427C>T	ENST00000373116.5	-	2	316	c.155G>A	c.(154-156)gGa>gAa	p.G52E	CSF3R_ENST00000487540.2_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	52				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697). {ECO:0000305}.	translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACGACATATCCGCGCGCGGC	0.602																																						ENST00000373116.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14						c.(154-156)gGa>gAa		mitochondrial ribosomal protein S15							63.0	56.0	58.0					1																	36929427		2203	4300	6503	SO:0001583	missense	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36929427C>T	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.155G>A	1.37:g.36929427C>T	ENSP00000362208:p.Gly52Glu						p.G52E	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN			2	316	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	52	GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).				B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	c.155G>A	CCDS411.1	.	.	.	.	.	.	.	.	.	.	C	7.443	0.641018	0.14386	.	.	ENSG00000116898	ENST00000373116	.	.	.	4.82	1.72	0.24424	.	0.765682	0.12740	N	0.443110	T	0.25568	0.0622	L	0.51422	1.61	0.09310	N	1	P	0.44627	0.839	B	0.38562	0.276	T	0.08700	-1.0709	9	0.14656	T	0.56	-27.1561	6.2469	0.20823	0.0:0.5083:0.3882:0.1034	.	52	P82914	RT15_HUMAN	E	52	.	ENSP00000362208:G52E	G	-	2	0	MRPS15	36702014	0.668000	0.27493	0.360000	0.25837	0.024000	0.10985	0.127000	0.15790	1.227000	0.43598	0.655000	0.94253	GGA		0.602	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		3	28	0	0	0	1	0	3	28				
BCOR	54880	broad.mit.edu	37	X	39922007	39922007	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chrX:39922007C>A	ENST00000378444.4	-	9	4393	c.4165G>T	c.(4165-4167)Gat>Tat	p.D1389Y	BCOR_ENST00000342274.4_Missense_Mutation_p.D1355Y|BCOR_ENST00000378455.4_Missense_Mutation_p.D1337Y|BCOR_ENST00000397354.3_Missense_Mutation_p.D1355Y|BCOR_ENST00000378463.1_Missense_Mutation_p.D232Y	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1389					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACCTTGCCATCGGCATTCTCC	0.577			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4063-4065)Gat>Tat		BCL6 corepressor							94.0	67.0	76.0					X																	39922007		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922007C>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4165G>T	X.37:g.39922007C>A	ENSP00000367705:p.Asp1389Tyr					BCOR_ENST00000397354.3_Missense_Mutation_p.D1355Y|BCOR_ENST00000378444.4_Missense_Mutation_p.D1389Y|BCOR_ENST00000378455.4_Missense_Mutation_p.D1337Y|BCOR_ENST00000378463.1_Missense_Mutation_p.D232Y	p.D1355Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			9	4425	-			1389					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.4063G>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705570	0.68615	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	T;T;T;T;T;T;T	0.70399	-0.48;0.91;0.99;0.97;0.97;0.97;-0.43	6.08	6.08	0.98989	.	.	.	.	.	T	0.74824	0.3767	N	0.24115	0.695	0.58432	D	0.999994	D;D;D	0.71674	0.992;0.998;0.992	P;P;P	0.60682	0.835;0.878;0.835	T	0.77710	-0.2486	9	0.72032	D	0.01	-26.7481	19.5097	0.95137	0.0:1.0:0.0:0.0	.	1337;1389;1355	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	Y	259;232;1337;1355;1389;1355;62	ENSP00000408006:D259Y;ENSP00000367724:D232Y;ENSP00000367716:D1337Y;ENSP00000380512:D1355Y;ENSP00000367705:D1389Y;ENSP00000345923:D1355Y;ENSP00000387552:D62Y	ENSP00000345923:D1355Y	D	-	1	0	BCOR	39806951	0.999000	0.42202	0.198000	0.23420	0.882000	0.50991	5.790000	0.69038	2.562000	0.86427	0.600000	0.82982	GAT		0.577	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		3	4	1	0	0.004672	1	0.00473268	3	4				
ATG9A	79065	broad.mit.edu	37	2	220091655	220091655	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:220091655C>T	ENST00000409618.1	-	5	587	c.148G>A	c.(148-150)Gtt>Att	p.V50I	ANKZF1_ENST00000410034.3_5'Flank|ATG9A_ENST00000488833.1_5'UTR|ATG9A_ENST00000396761.2_Splice_Site_p.V50I|AC068946.1_ENST00000408417.1_RNA|ANKZF1_ENST00000409849.1_5'Flank|ATG9A_ENST00000361242.4_Splice_Site_p.V50I|ANKZF1_ENST00000323348.5_5'Flank|ATG9A_ENST00000409422.1_5'UTR			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	50					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATTATAAACGTGTAATTGT	0.408																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.e5-1		autophagy related 9A							92.0	86.0	88.0					2																	220091655		1900	4112	6012	SO:0001630	splice_region_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220091655C>T	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.148-1G>A	2.37:g.220091655C>T						ATG9A_ENST00000396761.2_Splice_Site_p.V50_splice|ATG9A_ENST00000409422.1_5'UTR|ATG9A_ENST00000361242.4_Splice_Site_p.V50_splice|ATG9A_ENST00000488833.1_5'UTR	p.V50_splice			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	587	-		Renal(207;0.0474)	50					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Splice_Site	SNP	ENST00000409618.1	37	c.147_splice	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	C	4.644	0.119659	0.08881	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000436856;ENST00000457841;ENST00000428226;ENST00000432520;ENST00000439812;ENST00000443140;ENST00000434939	T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.15	4.28	0.50868	.	0.501323	0.23118	N	0.051726	T	0.60183	0.2249	N	0.25144	0.715	0.80722	D	1	B	0.23185	0.081	B	0.13407	0.009	T	0.55159	-0.8184	10	0.26408	T	0.33	.	13.97	0.64233	0.0:0.9271:0.0:0.0729	.	50	Q7Z3C6	ATG9A_HUMAN	I	50	ENSP00000379983:V50I;ENSP00000386710:V50I;ENSP00000355173:V50I;ENSP00000401530:V50I;ENSP00000404750:V50I;ENSP00000409164:V50I;ENSP00000406785:V50I;ENSP00000413569:V50I;ENSP00000416435:V50I;ENSP00000394345:V50I	ENSP00000355173:V50I	V	-	1	0	ATG9A	219799899	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.604000	0.46274	1.401000	0.46761	0.491000	0.48974	GTT		0.408	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085	Missense_Mutation	7	37	0	0	0	1	0	7	37				
CFTR	1080	broad.mit.edu	37	7	117171067	117171067	+	Missense_Mutation	SNP	C	C	A	rs397508632		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:117171067C>A	ENST00000003084.6	+	4	520	c.388C>A	c.(388-390)Ctc>Atc	p.L130I	CFTR_ENST00000454343.1_Missense_Mutation_p.L130I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	130	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CTTATGCCTTCTCTTTATTGT	0.423									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(388-390)Ctc>Atc		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						114.0	96.0	102.0					7																	117171067		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117171067C>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.388C>A	7.37:g.117171067C>A	ENSP00000003084:p.Leu130Ile					CFTR_ENST00000454343.1_Missense_Mutation_p.L130I	p.L130I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		4	520	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		130			ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.388C>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611936	0.87258	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.92595	-3.07;-3.07;-3.07	5.73	5.73	0.89815	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	L	0.43152	1.355	0.48288	D	0.999624	D	0.89917	1.0	D	0.91635	0.999	D	0.93039	0.6455	9	.	.	.	-16.1885	20.263	0.98456	0.0:1.0:0.0:0.0	.	130	P13569	CFTR_HUMAN	I	130	ENSP00000003084:L130I;ENSP00000403677:L130I;ENSP00000389119:L130I	.	L	+	1	0	CFTR	116958303	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	5.703000	0.68340	2.868000	0.98415	0.555000	0.69702	CTC		0.423	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		5	38	1	0	3.59834e-05	1	3.74227e-05	5	38				
FOXI1	2299	broad.mit.edu	37	5	169535073	169535073	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:169535073C>G	ENST00000306268.6	+	2	656	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	199					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACTGGACCCTGGACCCCAA	0.428									Pendred syndrome																													ENST00000306268.6																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(595-597)Ctg>Gtg		forkhead box I1							71.0	68.0	69.0					5																	169535073		2203	4300	6503	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding	g.chr5:169535073C>G	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.595C>G	5.37:g.169535073C>G	ENSP00000304286:p.Leu199Val					FOXI1_ENST00000449804.2_Intron	p.L199V			Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	656	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	199					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.595C>G	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793197	0.50102	.	.	ENSG00000168269	ENST00000306268	D	0.96168	-3.93	3.94	3.06	0.35304	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	D	0.000002	D	0.95629	0.8579	L	0.43646	1.37	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.94594	0.7790	10	0.87932	D	0	.	8.2692	0.31833	0.0:0.8181:0.0:0.1819	.	199	Q12951	FOXI1_HUMAN	V	199	ENSP00000304286:L199V	ENSP00000304286:L199V	L	+	1	2	FOXI1	169467651	0.681000	0.27614	0.990000	0.47175	0.993000	0.82548	1.271000	0.33098	0.880000	0.35969	0.455000	0.32223	CTG		0.428	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		11	37	0	0	0	1	0	11	37				
RYR2	6262	broad.mit.edu	37	1	237948018	237948018	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:237948018G>C	ENST00000366574.2	+	90	13323	c.13006G>C	c.(13006-13008)Gac>Cac	p.D4336H	RYR2_ENST00000542537.1_Missense_Mutation_p.D4320H|RYR2_ENST00000360064.6_Missense_Mutation_p.D4342H|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4336					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACATGCCAGACCCCACTCA	0.552																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(13006-13008)Gac>Cac		ryanodine receptor 2 (cardiac)							67.0	67.0	67.0					1																	237948018		1940	4139	6079	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237948018G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13006G>C	1.37:g.237948018G>C	ENSP00000355533:p.Asp4336His					RYR2_ENST00000542537.1_Missense_Mutation_p.D4320H|RYR2_ENST00000360064.6_Missense_Mutation_p.D4342H	p.D4336H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13323	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4336					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13006G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970882	0.74246	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95342	-3.68;-3.68;-3.68	5.32	4.41	0.53225	Ryanodine Receptor TM 4-6 (1);	0.162448	0.37053	N	0.002268	D	0.96065	0.8718	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96386	0.9285	10	0.72032	D	0.01	-17.7383	13.9556	0.64147	0.0723:0.0:0.9277:0.0	.	1310;4336	B4DGV4;Q92736	.;RYR2_HUMAN	H	4336;4342;4320;1310	ENSP00000355533:D4336H;ENSP00000353174:D4342H;ENSP00000443798:D4320H	ENSP00000353174:D4342H	D	+	1	0	RYR2	236014641	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	9.601000	0.98297	1.486000	0.48398	0.650000	0.86243	GAC		0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	62	0	0	0	1	0	10	62				
PLXNB3	5365	broad.mit.edu	37	X	153036775	153036775	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chrX:153036775C>T	ENST00000361971.5	+	13	2378	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	PLXNB3_ENST00000538282.1_Missense_Mutation_p.S365F|PLXNB3_ENST00000538776.1_Missense_Mutation_p.S408F|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.S778F	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	755					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTTATCCCTCCATGTCCCAG	0.607																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2332-2334)tCc>tTc		plexin B3							97.0	83.0	87.0					X																	153036775		2199	4298	6497	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036775C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2264C>T	X.37:g.153036775C>T	ENSP00000355378:p.Ser755Phe					PLXNB3_ENST00000538282.1_Missense_Mutation_p.S365F|PLXNB3_ENST00000361971.5_Missense_Mutation_p.S755F|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.S408F	p.S778F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			14	2604	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		755					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2333C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736980	0.30774	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.69561	5.15;5.12;4.53;-0.41	5.11	3.35	0.38373	.	0.654651	0.15748	N	0.246595	T	0.67496	0.2899	M	0.73598	2.24	0.09310	N	1	B;P;B;B	0.43826	0.102;0.818;0.318;0.102	B;P;B;B	0.45712	0.036;0.491;0.132;0.091	T	0.55256	-0.8169	10	0.25106	T	0.35	.	8.9013	0.35497	0.0:0.8174:0.0:0.1826	.	408;437;778;755	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	F	778;755;408;365	ENSP00000442736:S778F;ENSP00000355378:S755F;ENSP00000445569:S408F;ENSP00000441919:S365F	ENSP00000355378:S755F	S	+	2	0	PLXNB3	152689969	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.437000	0.21543	0.398000	0.25338	0.529000	0.55759	TCC		0.607	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			4	14	0	0	0	1	0	4	14				
ANKLE2	23141	broad.mit.edu	37	12	133306796	133306796	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:133306796A>G	ENST00000357997.5	-	11	2041	c.1952T>C	c.(1951-1953)aTa>aCa	p.I651T	ANKLE2_ENST00000542657.1_Missense_Mutation_p.I6T|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Missense_Mutation_p.I589T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.I6T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	651					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)		CCGATTTTTTATTTCTTCCAA	0.512																																						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.(1765-1767)aTa>aCa		ankyrin repeat and LEM domain containing 2							39.0	43.0	42.0					12																	133306796		1902	4114	6016	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133306796A>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.1952T>C	12.37:g.133306796A>G	ENSP00000350686:p.Ile651Thr					ANKLE2_ENST00000542657.1_Missense_Mutation_p.I6T|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000357997.5_Missense_Mutation_p.I651T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.I6T	p.I589T			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	10	8450	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	651					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1766T>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	a	18.01	3.528378	0.64860	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.57436	1.58;1.54;0.4;0.4;0.41	5.76	4.62	0.57501	.	0.244825	0.48767	D	0.000169	T	0.50086	0.1595	M	0.66939	2.045	0.80722	D	1	B	0.26002	0.139	B	0.23275	0.045	T	0.48317	-0.9046	10	0.45353	T	0.12	-6.5845	11.7596	0.51894	0.9315:0.0:0.0685:0.0	.	651	Q86XL3	ANKL2_HUMAN	T	589;651;6;6;6	ENSP00000446268:I589T;ENSP00000350686:I651T;ENSP00000437807:I6T;ENSP00000438551:I6T;ENSP00000445760:I6T	ENSP00000350686:I651T	I	-	2	0	ANKLE2	131816869	1.000000	0.71417	0.612000	0.29024	0.924000	0.55760	5.429000	0.66495	1.126000	0.42016	0.529000	0.55759	ATA		0.512	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			9	58	0	0	0	1	0	9	58				
DPY19L1	23333	broad.mit.edu	37	7	35009087	35009087	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:35009087G>C	ENST00000310974.4	-	9	897	c.753C>G	c.(751-753)ttC>ttG	p.F251L	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	251						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGGAAGCATGAAAAATACAT	0.343																																						ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(751-753)ttC>ttG		dpy-19-like 1 (C. elegans)							84.0	79.0	80.0					7																	35009087		1846	4097	5943	SO:0001583	missense	23333					integral to membrane		g.chr7:35009087G>C	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.753C>G	7.37:g.35009087G>C	ENSP00000308695:p.Phe251Leu					DPY19L1_ENST00000462134.2_5'UTR	p.F251L	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			9	897	-			251					O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	c.753C>G	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704102	0.68615	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.55588	0.51;0.51	5.18	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	M	0.87180	2.865	0.47994	D	0.999564	D	0.57257	0.979	D	0.74023	0.982	T	0.73023	-0.4113	10	0.37606	T	0.19	-18.0211	10.3189	0.43753	0.1005:0.0:0.8995:0.0	.	251	Q2PZI1	D19L1_HUMAN	L	251;50	ENSP00000308695:F251L;ENSP00000400510:F50L	ENSP00000308695:F251L	F	-	3	2	DPY19L1	34975612	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.865000	0.39479	1.146000	0.42352	0.491000	0.48974	TTC		0.343	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			4	26	0	0	0	1	0	4	26				
ZNF804A	91752	broad.mit.edu	37	2	185801399	185801399	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:185801399G>T	ENST00000302277.6	+	4	1870	c.1276G>T	c.(1276-1278)Gta>Tta	p.V426L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	426							metal ion binding (GO:0046872)	p.V426I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAGCCATTTGTACCTGTCCT	0.373																																						ENST00000302277.6																			1	Substitution - Missense(1)	p.V426I(1)	lung(1)	NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(1276-1278)Gta>Tta		zinc finger protein 804A							122.0	130.0	127.0					2																	185801399		2203	4299	6502	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801399G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1276G>T	2.37:g.185801399G>T	ENSP00000303252:p.Val426Leu						p.V426L	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	1870	+			426					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1276G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460812	0.26248	.	.	ENSG00000170396	ENST00000302277	T	0.04406	3.63	5.6	4.72	0.59763	.	0.115488	0.38663	N	0.001620	T	0.03390	0.0098	L	0.33485	1.01	0.33295	D	0.564066	P	0.42456	0.78	B	0.28232	0.087	T	0.33979	-0.9847	10	0.59425	D	0.04	-12.9388	8.6422	0.33983	0.0761:0.0:0.7736:0.1503	.	426	Q7Z570	Z804A_HUMAN	L	426	ENSP00000303252:V426L	ENSP00000303252:V426L	V	+	1	0	ZNF804A	185509644	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.828000	0.48120	1.379000	0.46325	0.591000	0.81541	GTA		0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		17	114	1	0	1.15088e-07	1	1.26434e-07	17	114				
GLIS3	169792	broad.mit.edu	37	9	3856103	3856103	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:3856103C>T	ENST00000324333.10	-	8	2107	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.Q793Q	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	638					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TATAGGGAGGCTGTGTTCTTT	0.468																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1912-1914)caG>caA		GLIS family zinc finger 3							152.0	144.0	147.0					9																	3856103		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3856103C>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1914G>A	9.37:g.3856103C>T						GLIS3_ENST00000381971.3_Silent_p.Q793Q|GLIS3_ENST00000461870.1_5'UTR	p.Q638Q	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	8	2107	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	638					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.1914G>A	CCDS6451.1																																																																																				0.468	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		18	34	0	0	0	1	0	18	34				
KIDINS220	57498	broad.mit.edu	37	2	8931278	8931278	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:8931278G>A	ENST00000256707.3	-	13	1534	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	KIDINS220_ENST00000427284.1_Silent_p.L451L|KIDINS220_ENST00000418530.1_Silent_p.L409L|KIDINS220_ENST00000319688.5_Silent_p.L452L|KIDINS220_ENST00000473731.1_Silent_p.L451L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	451	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGGCTCACTGAGAATATCTG	0.433																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(1351-1353)ctC>ctT		kinase D-interacting substrate, 220kDa							102.0	98.0	99.0					2																	8931278		1905	4125	6030	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8931278G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1353C>T	2.37:g.8931278G>A						KIDINS220_ENST00000427284.1_Silent_p.L451L|KIDINS220_ENST00000473731.1_Silent_p.L451L|KIDINS220_ENST00000319688.5_Silent_p.L452L|KIDINS220_ENST00000418530.1_Silent_p.L409L	p.L451L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			13	1534	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		451			KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.1353C>T	CCDS42650.1																																																																																				0.433	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		11	52	0	0	0	1	0	11	52				
PCDHB5	26167	broad.mit.edu	37	5	140516912	140516912	+	Silent	SNP	C	C	T	rs551194665		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:140516912C>T	ENST00000231134.5	+	1	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	632	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1894-1896)cgC>cgT									31.0	34.0	33.0					5																	140516912		1994	3940	5934	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516912C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1896C>T	5.37:g.140516912C>T							p.R632R	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2113	+			632			Cadherin 6.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1896C>T	CCDS4247.1																																																																																				0.692	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		17	82	0	0	0	1	0	17	82				
NKAP	79576	broad.mit.edu	37	X	119070345	119070345	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chrX:119070345C>T	ENST00000371410.3	-	4	754	c.588G>A	c.(586-588)agG>agA	p.R196R	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	196	Lys-rich.|Necessary for interaction with CIR1.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTTTCTTTCTCCTTTTCTTGG	0.318																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(586-588)agG>agA		NFKB activating protein							135.0	115.0	122.0					X																	119070345		2203	4300	6503	SO:0001819	synonymous_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119070345C>T	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.588G>A	X.37:g.119070345C>T						NKAP_ENST00000477789.1_5'UTR	p.R196R	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			4	754	-			196			Lys-rich.|Necessary for interaction with CIR1.		Q6IPW6|Q96BQ2|Q9H638	Silent	SNP	ENST00000371410.3	37	c.588G>A	CCDS14592.1																																																																																				0.318	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		9	24	0	0	0	1	0	9	24				
AMZ2	51321	broad.mit.edu	37	17	66246328	66246328	+	Splice_Site	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr17:66246328G>C	ENST00000359904.3	+	2	1132		c.e2-1		AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000577273.1_5'UTR|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577985.1_5'UTR|RP11-147L13.2_ENST00000577698.1_RNA|AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000577866.1_Splice_Site|AMZ2_ENST00000580753.1_Splice_Site	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2								metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTTGTTAGATGCAAATAA	0.358																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.e2-1		archaelysin family metallopeptidase 2							60.0	65.0	63.0					17																	66246328		2203	4300	6503	SO:0001630	splice_region_variant	51321						metallopeptidase activity|zinc ion binding	g.chr17:66246328G>C	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.0-1G>C	17.37:g.66246328G>C						AMZ2_ENST00000577985.1_5'UTR|AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000577273.1_5'UTR|AMZ2_ENST00000577866.1_Splice_Site|AMZ2_ENST00000585050.1_Intron		NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	1132	+	all_cancers(12;1.12e-09)							A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Splice_Site	SNP	ENST00000359904.3	37		CCDS11674.1																																																																																				0.358	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627	Intron	42	58	0	0	0	1	0	42	58				
PIGR	5284	broad.mit.edu	37	1	207107783	207107783	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:207107783C>G	ENST00000356495.4	-	6	1870	c.1687G>C	c.(1687-1689)Gaa>Caa	p.E563Q	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	563					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCCTCTCTTCAACTGCCACA	0.597																																						ENST00000356495.4																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1687-1689)Gaa>Caa		polymeric immunoglobulin receptor							62.0	60.0	61.0					1																	207107783		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207107783C>G		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1687G>C	1.37:g.207107783C>G	ENSP00000348888:p.Glu563Gln						p.E563Q	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN			6	1870	-			563					Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.1687G>C	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901221	0.52227	.	.	ENSG00000162896	ENST00000356495	T	0.17370	2.28	5.51	0.606	0.17559	Immunoglobulin-like fold (1);	0.678596	0.14341	N	0.325683	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	D	0.56746	0.977	P	0.46940	0.532	T	0.25847	-1.0120	10	0.40728	T	0.16	-22.0869	8.1197	0.30963	0.1203:0.6921:0.0:0.1876	.	563	P01833	PIGR_HUMAN	Q	563	ENSP00000348888:E563Q	ENSP00000348888:E563Q	E	-	1	0	PIGR	205174406	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-0.977000	0.03782	-0.206000	0.10203	0.561000	0.74099	GAA		0.597	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		10	39	0	0	0	1	0	10	39				
TRIP12	9320	broad.mit.edu	37	2	230675762	230675762	+	Splice_Site	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:230675762C>G	ENST00000283943.5	-	14	2090		c.e14-1		TRIP12_ENST00000389044.4_Splice_Site|TRIP12_ENST00000389045.3_Splice_Site|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGAGTAAATTCTTCACAAACA	0.363																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e14-1		thyroid hormone receptor interactor 12							62.0	64.0	63.0					2																	230675762		2203	4300	6503	SO:0001630	splice_region_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230675762C>G	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1912-1G>C	2.37:g.230675762C>G						TRIP12_ENST00000389045.3_Splice_Site|TRIP12_ENST00000389044.4_Splice_Site|TRIP12_ENST00000543084.1_Intron		NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	14	2090	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)						D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Splice_Site	SNP	ENST00000283943.5	37		CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046726	0.55110	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5388	0.95266	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIP12	230384006	1.000000	0.71417	0.990000	0.47175	0.506000	0.33950	7.741000	0.84997	2.622000	0.88805	0.650000	0.86243	.		0.363	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	Intron	4	36	0	0	0	1	0	4	36				
FAM57B	83723	broad.mit.edu	37	16	30038047	30038047	+	Silent	SNP	G	G	A	rs535614088		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:30038047G>A	ENST00000380495.4	-	3	1058	c.327C>T	c.(325-327)gaC>gaT	p.D109D	FAM57B_ENST00000279389.4_Silent_p.D59D|FAM57B_ENST00000564806.1_Silent_p.D59D	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	109	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGGCCGCTCCGTCGTCCCCTC	0.607													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18818	0.0		0.0	False		,,,				2504	0.0					ENST00000380495.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(325-327)gaC>gaT		family with sequence similarity 57, member B							78.0	61.0	67.0					16																	30038047		2197	4300	6497	SO:0001819	synonymous_variant	83723					endoplasmic reticulum|integral to membrane		g.chr16:30038047G>A	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.327C>T	16.37:g.30038047G>A						FAM57B_ENST00000279389.4_Silent_p.D59D|FAM57B_ENST00000564806.1_Silent_p.D59D	p.D109D	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN			3	1058	-			109			TLC.		Q9H0J1	Silent	SNP	ENST00000380495.4	37	c.327C>T	CCDS10667.2	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.228124	0.01518	.	.	ENSG00000149926	ENST00000279389	.	.	.	5.82	-4.59	0.03400	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.27896	N	0.939168	.	.	.	.	.	.	T	0.32824	-0.9892	4	.	.	.	-13.056	3.2037	0.06658	0.482:0.1127:0.2956:0.1096	.	.	.	.	M	76	.	.	T	-	2	0	FAM57B	29945548	0.001000	0.12720	0.003000	0.11579	0.044000	0.14063	0.048000	0.14078	-0.427000	0.07350	-0.157000	0.13467	ACG		0.607	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		4	34	0	0	0	1	0	4	34				
HSD17B7P2	158160	broad.mit.edu	37	10	38660047	38660047	+	RNA	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:38660047C>T	ENST00000494540.1	+	0	826					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		ATCCTCTGATCAAATATCTGA	0.428																																						ENST00000494540.1																			0																																																			158160							g.chr10:38660047C>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.38660047C>T								NR_003086.1						0	826	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.428	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		14	34	0	0	0	1	0	14	34				
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		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.M1043V(22)		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)	CATGAAACAAATGAATGATGC	0.368		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		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		22	Substitution - Missense(22)	p.M1043V(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(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.(3127-3129)Atg>Gtg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97.0	87.0	91.0					3																	178952072		1905	4126	6031	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.chr3:178952072A>G		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.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	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)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			23	78	0	0	0	1	0	23	78				
HLA-C	3107	broad.mit.edu	37	6	31239532	31239532	+	Missense_Mutation	SNP	C	C	T	rs281860364		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:31239532C>T	ENST00000376228.5	-	2	201	c.187G>A	c.(187-189)Gac>Aac	p.D63N	HLA-C_ENST00000383329.3_Missense_Mutation_p.D63N	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	63	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTCGCGGCGTCGCTGTCGAAC	0.687																																						ENST00000383329.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(187-189)Gac>Aac		major histocompatibility complex, class I, C							40.0	40.0	40.0					6																	31239532		1511	2707	4218	SO:0001583	missense	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31239532C>T	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.187G>A	6.37:g.31239532C>T	ENSP00000365402:p.Asp63Asn					HLA-C_ENST00000376228.5_Missense_Mutation_p.D63N	p.D63N			Q9TNN7	1C05_HUMAN			2	201	-			63			Alpha-1.		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.187G>A	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	14.57|14.57	2.575043|2.575043	0.45902|0.45902	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.00824|.	5.65;5.65|.	2.81|2.81	2.81|2.81	0.32909|0.32909	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.355990|.	0.05646|.	U|.	0.584331|.	T|T	0.47432|0.47432	0.1445|0.1445	M|M	0.83483|0.83483	2.645|2.645	0.26875|0.26875	N|N	0.967667|0.967667	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.997;0.997;0.997;0.998|.	T|T	0.34502|0.34502	-0.9826|-0.9826	10|5	0.87932|.	D|.	0|.	.|.	9.2778|9.2778	0.37709|0.37709	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	63;63;63;63|.	A2AEA4;A6H578;A2AEA2;P10321|.	.;.;.;1C07_HUMAN|.	N|Q	63;63;63;100|62	ENSP00000365402:D63N;ENSP00000372819:D63N|.	ENSP00000365402:D63N|.	D|R	-|-	1|2	0|0	HLA-C|HLA-C	31347511|31347511	0.018000|0.018000	0.18449|0.18449	0.998000|0.998000	0.56505|0.56505	0.365000|0.365000	0.29674|0.29674	-0.159000|-0.159000	0.10056|0.10056	1.886000|1.886000	0.54624|0.54624	0.305000|0.305000	0.20034|0.20034	GAC|CGA		0.687	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		8	54	0	0	0	1	0	8	54				
SNUPN	10073	broad.mit.edu	37	15	75901925	75901925	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr15:75901925C>T	ENST00000564644.1	-	6	1054	c.476G>A	c.(475-477)gGc>gAc	p.G159D	SNUPN_ENST00000371091.5_Missense_Mutation_p.G201D|SNUPN_ENST00000308588.5_Missense_Mutation_p.G159D|SNUPN_ENST00000564675.1_Missense_Mutation_p.G159D|SNUPN_ENST00000567134.1_Missense_Mutation_p.G159D			O95149	SPN1_HUMAN	snurportin 1	159	Necessary for interaction with XPO1.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TCGCCTGTTGCCTCCTGGCAG	0.438																																						ENST00000564644.1																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						c.(475-477)gGc>gAc		snurportin 1							127.0	123.0	124.0					15																	75901925		2197	4294	6491	SO:0001583	missense	10073				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	g.chr15:75901925C>T	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.476G>A	15.37:g.75901925C>T	ENSP00000454852:p.Gly159Asp					SNUPN_ENST00000567134.1_Missense_Mutation_p.G159D|SNUPN_ENST00000371091.5_Missense_Mutation_p.G201D|SNUPN_ENST00000308588.5_Missense_Mutation_p.G159D|SNUPN_ENST00000564675.1_Missense_Mutation_p.G159D	p.G159D			O95149	SPN1_HUMAN			6	1054	-			159			Necessary for interaction with XPO1.		A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	ENST00000564644.1	37	c.476G>A	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.911539	0.92178	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68765	0.96;0.942	T	0.79579	-0.1745	9	0.72032	D	0.01	-22.736	17.8124	0.88620	0.0:1.0:0.0:0.0	.	201;159	C9K0X5;O95149	.;SPN1_HUMAN	D	159;201	.	ENSP00000309831:G159D	G	-	2	0	SNUPN	73688980	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.745000	0.74860	2.550000	0.86006	0.544000	0.68410	GGC		0.438	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		13	62	0	0	0	1	0	13	62				
FRS3	10817	broad.mit.edu	37	6	41738629	41738629	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:41738629C>G	ENST00000373018.3	-	7	1458	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H	FRS3_ENST00000259748.2_Missense_Mutation_p.D403H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	403					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGCGGAAATCAAAGTTGAAG	0.677																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1207-1209)Gat>Cat		fibroblast growth factor receptor substrate 3							20.0	27.0	25.0					6																	41738629		2192	4289	6481	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738629C>G	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1207G>C	6.37:g.41738629C>G	ENSP00000362109:p.Asp403His					FRS3_ENST00000259748.2_Missense_Mutation_p.D403H	p.D403H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1458	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		403					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1207G>C	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139376	0.77775	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.38722	1.12;1.12	5.76	5.76	0.90799	.	0.094101	0.64402	D	0.000001	T	0.59945	0.2231	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61667	-0.7016	10	0.87932	D	0	-21.9814	19.5656	0.95391	0.0:1.0:0.0:0.0	.	403	O43559	FRS3_HUMAN	H	403	ENSP00000362109:D403H;ENSP00000259748:D403H	ENSP00000259748:D403H	D	-	1	0	FRS3	41846607	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.668000	0.68074	2.728000	0.93425	0.655000	0.94253	GAT		0.677	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		9	47	0	0	0	1	0	9	47				
FNDC3B	64778	broad.mit.edu	37	3	172003756	172003756	+	Silent	SNP	G	G	A	rs115364239	byFrequency	TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:172003756G>A	ENST00000336824.4	+	7	930	c.831G>A	c.(829-831)tcG>tcA	p.S277S	FNDC3B_ENST00000415807.2_Silent_p.S277S|FNDC3B_ENST00000416957.1_Silent_p.S277S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	277					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACATTCTTTCGGGAATAGAGA	0.348													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20304	0.0		0.0	False		,,,				2504	0.0					ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(829-831)tcG>tcA		fibronectin type III domain containing 3B		G	,	2,4404	4.2+/-10.8	0,2,2201	100.0	103.0	102.0		831,831	-3.8	0.9	3	dbSNP_132	102	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FNDC3B	NM_001135095.1,NM_022763.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	277/1205,277/1205	172003756	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172003756G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.831G>A	3.37:g.172003756G>A						FNDC3B_ENST00000416957.1_Silent_p.S277S|FNDC3B_ENST00000415807.2_Silent_p.S277S	p.S277S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	7	930	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		277			Fibronectin type-III 1.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	c.831G>A	CCDS3217.1																																																																																				0.348	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		18	47	0	0	0	1	0	18	47				
PNLIP	5406	broad.mit.edu	37	10	118327287	118327287	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:118327287C>A	ENST00000369221.2	+	13	1403	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	459	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.L459M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GGAGGAAGTTCTGCTCACCCT	0.433																																						ENST00000369221.2																			1	Substitution - Missense(1)	p.L459M(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(1375-1377)Ctg>Atg		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						187.0	165.0	172.0					10																	118327287		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118327287C>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1375C>A	10.37:g.118327287C>A	ENSP00000358223:p.Leu459Met						p.L459M	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	13	1403	+			459			PLAT.		Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.1375C>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981501	0.34942	.	.	ENSG00000175535	ENST00000369221	T	0.52057	0.68	5.52	3.64	0.41730	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.117687	0.37437	N	0.002091	T	0.70378	0.3217	M	0.89785	3.06	0.37727	D	0.925119	D	0.76494	0.999	D	0.78314	0.991	T	0.75551	-0.3278	10	0.62326	D	0.03	.	9.1755	0.37109	0.0:0.7749:0.146:0.0791	.	459	P16233	LIPP_HUMAN	M	459	ENSP00000358223:L459M	ENSP00000358223:L459M	L	+	1	2	PNLIP	118317277	1.000000	0.71417	0.865000	0.33974	0.003000	0.03518	2.210000	0.42816	0.800000	0.34041	0.655000	0.94253	CTG		0.433	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		8	47	1	0	2.17888e-05	1	2.31228e-05	8	47				
NOTCH1	4851	broad.mit.edu	37	9	139412282	139412282	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:139412282C>T	ENST00000277541.6	-	8	1438	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GAGACGCACTCGTTGACGTCG	0.667			"""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.(1363-1365)Gag>Aag		notch 1							57.0	64.0	62.0					9																	139412282		2174	4262	6436	SO:0001583	missense	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.chr9:139412282C>T	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.1363G>A	9.37:g.139412282C>T	ENSP00000277541:p.Glu455Lys	HNSCC(8;0.001)					p.E455K	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1438	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	455			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1363G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705042	0.88924	.	.	ENSG00000148400	ENST00000277541	D	0.98849	-5.18	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99226	1.0880	10	0.66056	D	0.02	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	455	P46531	NOTC1_HUMAN	K	455	ENSP00000277541:E455K	ENSP00000277541:E455K	E	-	1	0	NOTCH1	138532103	1.000000	0.71417	0.996000	0.52242	0.760000	0.43138	5.879000	0.69690	2.088000	0.63022	0.462000	0.41574	GAG		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		39	59	0	0	0	1	0	39	59				
ZCCHC11	23318	broad.mit.edu	37	1	52896759	52896759	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:52896759G>A	ENST00000371544.3	-	28	4896	c.4634C>T	c.(4633-4635)aCg>aTg	p.T1545M	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T1546M	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1545	Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATCGTGAGACGTGTTAGGGAT	0.512																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(4633-4635)aCg>aTg		zinc finger, CCHC domain containing 11							114.0	105.0	108.0					1																	52896759		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52896759G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4634C>T	1.37:g.52896759G>A	ENSP00000360599:p.Thr1545Met					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T1546M	p.T1545M	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			28	4896	-			1545			Pro-rich.		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.4634C>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.65|14.65	2.598623|2.598623	0.46318|0.46318	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000494469|ENST00000257177;ENST00000371544	.|T;T	.|0.49139	.|0.79;0.79	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.337687	.|0.31624	.|N	.|0.007337	T|T	0.30978|0.30978	0.0782|0.0782	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|P	.|0.50819	.|0.939	.|B	.|0.36719	.|0.231	T|T	0.15694|0.15694	-1.0428|-1.0428	5|10	.|0.42905	.|T	.|0.14	.|.	14.82|14.82	0.70065|0.70065	0.0:0.0:0.8555:0.1445|0.0:0.0:0.8555:0.1445	.|.	.|1545	.|Q5TAX3	.|TUT4_HUMAN	C|M	52|1546;1545	.|ENSP00000257177:T1546M;ENSP00000360599:T1545M	.|ENSP00000257177:T1546M	R|T	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52669347|52669347	1.000000|1.000000	0.71417|0.71417	0.929000|0.929000	0.37066|0.37066	0.097000|0.097000	0.18754|0.18754	7.204000|7.204000	0.77872|0.77872	2.521000|2.521000	0.84997|0.84997	0.563000|0.563000	0.77884|0.77884	CGT|ACG		0.512	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		8	53	0	0	0	1	0	8	53				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	284802							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	119	0	0	0	1	0	8	119				
AKAP6	9472	broad.mit.edu	37	14	33293956	33293956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr14:33293956C>T	ENST00000280979.4	+	13	7107	c.6937C>T	c.(6937-6939)Cga>Tga	p.R2313*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2313					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.R2313*(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCATGAAAAACGACATAGAAA	0.418																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			1	Substitution - Nonsense(1)	p.R2313*(1)	kidney(1)	NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(6937-6939)Cga>Tga		A kinase (PRKA) anchor protein 6							65.0	69.0	68.0					14																	33293956		2146	4281	6427	SO:0001587	stop_gained	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293956C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6937C>T	14.37:g.33293956C>T	ENSP00000280979:p.Arg2313*					AKAP6_ENST00000557272.1_Intron	p.R2313*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	7107	+	Breast(36;0.0388)|Prostate(35;0.15)		2313					A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	ENST00000280979.4	37	c.6937C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	46	12.390023	0.99663	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.45	4.56	0.56223	.	0.549985	0.16265	N	0.222066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.1872	9.2416	0.37500	0.2078:0.6604:0.1318:0.0	.	.	.	.	X	2313	.	ENSP00000280979:R2313X	R	+	1	2	AKAP6	32363707	0.981000	0.34729	0.640000	0.29408	0.702000	0.40608	0.920000	0.28705	1.290000	0.44636	0.467000	0.42956	CGA		0.418	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		35	75	0	0	0	1	0	35	75				
NBPF10	100132406	broad.mit.edu	37	1	145365372	145365372	+	Missense_Mutation	SNP	C	C	G	rs4126496	byFrequency	TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:145365372C>G	ENST00000342960.5	+	80	10032	c.9997C>G	c.(9997-9999)Ctt>Gtt	p.L3333V	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	647						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			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)		TTCAGGTTGTCTTGAACTGTG	0.488													.|||	1218	0.243211	0.1377	0.3674	5008	,	,		33448	0.1627		0.3887	False		,,,				2504	0.2311					ENST00000342960.5																			0				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.(9997-9999)Ctt>Gtt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145365372C>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.9997C>G	1.37:g.145365372C>G	ENSP00000345684:p.Leu3333Val					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.L3333V	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	80	10032	+	all_hematologic(923;0.032)		3333					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9997C>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	7.899	0.734062	0.15574	.	.	ENSG00000163386	ENST00000342960	T	0.07216	3.21	0.74	0.74	0.18330	.	.	.	.	.	T	0.02193	0.0068	L	0.36672	1.1	0.80722	P	0.0	.	.	.	.	.	.	T	0.47262	-0.9131	6	0.17369	T	0.5	.	4.8933	0.13737	0.0:1.0:0.0:0.0	rs4126496	.	.	.	V	3333	ENSP00000345684:L3333V	ENSP00000345684:L3333V	L	+	1	0	NBPF10	144076729	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	1.024000	0.30077	0.725000	0.32318	0.152000	0.16155	CTT		0.488	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	61	0	0	0	1	0	6	61				
TP53	7157	broad.mit.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	294	Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGTGAGGCTCCCCTTTCTTG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)	upper_aerodigestive_tract(17)|lung(14)|large_intestine(10)|breast(7)|urinary_tract(6)|oesophagus(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(2)|skin(2)|salivary_gland(1)|vulva(1)|soft_tissue(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(880-882)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							109.0	95.0	100.0					17																	7577058		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577058C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.880G>T	17.37:g.7577058C>A	ENSP00000269305:p.Glu294*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*	p.E294*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	294		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.880G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	31	1	0	2.47316e-13	1	2.81615e-13	33	31				
PDZD8	118987	broad.mit.edu	37	10	119134268	119134268	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:119134268G>A	ENST00000334464.5	-	1	710	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	157					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GGATGGTCTTGATGAAGGGCA	0.721																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(469-471)atC>atT		PDZ domain containing 8							14.0	18.0	17.0					10																	119134268		2192	4281	6473	SO:0001819	synonymous_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119134268G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.471C>T	10.37:g.119134268G>A							p.I157I	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	1	710	-		Colorectal(252;0.19)	157					Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	c.471C>T	CCDS7600.1																																																																																				0.721	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		7	26	0	0	0	1	0	7	26				
TROAP	10024	broad.mit.edu	37	12	49717952	49717952	+	Intron	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:49717952C>G	ENST00000257909.3	+	3	413				TROAP_ENST00000551245.1_Intron|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000547923.1_5'Flank|TROAP_ENST00000550709.1_3'UTR|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000380327.5_Missense_Mutation_p.P118A|RP11-161H23.9_ENST00000553259.1_RNA	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein						cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGTCCCAGCTCCTGGAAAGCT	0.507																																						ENST00000380327.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(352-354)Cct>Gct		trophinin associated protein							89.0	95.0	93.0					12																	49717952		2198	4294	6492	SO:0001627	intron_variant	10024				cell adhesion	cytoplasm		g.chr12:49717952C>G	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.337+132C>G	12.37:g.49717952C>G						TROAP_ENST00000549275.1_Intron|TROAP_ENST00000257909.3_Intron|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000551245.1_Intron|TROAP_ENST00000550709.1_3'UTR|RP11-161H23.9_ENST00000553259.1_RNA	p.P118A	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN			4	452	+			115					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.352C>G	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530199	0.27387	.	.	ENSG00000135451	ENST00000380327	.	.	.	3.44	1.59	0.23543	.	.	.	.	.	T	0.28928	0.0718	.	.	.	0.09310	N	0.999999	B	0.23540	0.087	B	0.20384	0.029	T	0.27123	-1.0083	7	0.87932	D	0	.	5.0196	0.14354	0.0:0.6663:0.2146:0.1191	.	118	Q6PJU7	.	A	118	.	ENSP00000369684:P118A	P	+	1	0	TROAP	48004219	0.011000	0.17503	0.052000	0.19188	0.347000	0.29111	-0.402000	0.07223	0.452000	0.26830	0.563000	0.77884	CCT		0.507	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		9	60	0	0	0	1	0	9	60				
SCN3A	6328	broad.mit.edu	37	2	165994547	165994547	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:165994547C>A	ENST00000360093.3	-	15	2724	c.2233G>T	c.(2233-2235)Gca>Tca	p.A745S	SCN3A_ENST00000409101.3_Missense_Mutation_p.A696S|SCN3A_ENST00000283254.7_Missense_Mutation_p.A745S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	745					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTAACCATGCATCACAGCAG	0.383																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2233-2235)Gca>Tca		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						120.0	114.0	116.0					2																	165994547		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165994547C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2233G>T	2.37:g.165994547C>A	ENSP00000353206:p.Ala745Ser					SCN3A_ENST00000283254.7_Missense_Mutation_p.A745S|SCN3A_ENST00000409101.3_Missense_Mutation_p.A696S	p.A745S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			15	2724	-			745					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2233G>T		.	.	.	.	.	.	.	.	.	.	C	10.13	1.265978	0.23136	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.95980	-3.87;-3.87;-3.81;-3.72	5.76	-1.28	0.09318	.	0.209770	0.33382	N	0.004967	D	0.85890	0.5802	N	0.17082	0.46	0.09310	N	0.999999	B;B;B;B;B	0.17852	0.024;0.001;0.0;0.0;0.017	B;B;B;B;B	0.13407	0.008;0.001;0.001;0.001;0.009	T	0.74044	-0.3791	10	0.25106	T	0.35	.	3.3858	0.07270	0.1855:0.2242:0.4457:0.1446	.	745;696;696;696;745	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	S	745;745;696;696	ENSP00000353206:A745S;ENSP00000283254:A745S;ENSP00000386726:A696S;ENSP00000403348:A696S	ENSP00000283254:A745S	A	-	1	0	SCN3A	165702793	0.004000	0.15560	0.166000	0.22797	0.996000	0.88848	0.395000	0.20850	-0.054000	0.13266	0.650000	0.86243	GCA		0.383	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	61	1	0	3.59834e-05	1	3.74227e-05	6	61				
MAP3K4	4216	broad.mit.edu	37	6	161470317	161470317	+	Nonsense_Mutation	SNP	C	C	G	rs561816464		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:161470317C>G	ENST00000392142.4	+	3	1161	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*	MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.S338*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.S338*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.S338*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	338					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GTAGGTTACTCAACACATCAT	0.443																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(1012-1014)tCa>tGa		mitogen-activated protein kinase kinase kinase 4							98.0	101.0	100.0					6																	161470317		2203	4300	6503	SO:0001587	stop_gained	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470317C>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1013C>G	6.37:g.161470317C>G	ENSP00000375986:p.Ser338*					MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.S338*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.S338*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.S338*	p.S338*	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1161	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	338					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_Mutation	SNP	ENST00000392142.4	37	c.1013C>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	37	6.573587	0.97676	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	5.74	5.74	0.90152	.	0.256409	0.33235	N	0.005129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-2.3067	19.9329	0.97127	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	ENSP00000297332:S338X	S	+	2	0	MAP3K4	161390307	0.962000	0.33011	0.008000	0.14137	0.930000	0.56654	4.412000	0.59787	2.714000	0.92807	0.650000	0.86243	TCA		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			10	66	0	0	0	1	0	10	66				
UGT3A1	133688	broad.mit.edu	37	5	35991265	35991265	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:35991265C>T	ENST00000274278.3	-	1	435	c.78G>A	c.(76-78)ctG>ctA	p.L26L	UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.L26L|UGT3A1_ENST00000507113.1_Silent_p.L26L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	26						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGATATTGTCAGGATTTTGG	0.597																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(76-78)ctG>ctA		UDP glycosyltransferase 3 family, polypeptide A1							121.0	119.0	120.0					5																	35991265		2203	4300	6503	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35991265C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.78G>A	5.37:g.35991265C>T						UGT3A1_ENST00000507113.1_Silent_p.L26L|UGT3A1_ENST00000503189.1_Silent_p.L26L|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000333811.4_Intron	p.L26L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	435	-	all_lung(31;0.000197)		26					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.78G>A	CCDS3913.1																																																																																				0.597	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		16	80	0	0	0	1	0	16	80				
PFKFB3	5209	broad.mit.edu	37	10	6261636	6261636	+	Silent	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:6261636C>G	ENST00000379775.4	+	7	933	c.603C>G	c.(601-603)ctC>ctG	p.L201L	PFKFB3_ENST00000317350.4_Silent_p.L201L|PFKFB3_ENST00000360521.2_Silent_p.L201L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379785.1_Silent_p.L201L|PFKFB3_ENST00000379782.3_Silent_p.L201L|PFKFB3_ENST00000540253.1_Silent_p.L215L|PFKFB3_ENST00000379789.4_Silent_p.L181L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	201	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ACCAGCCCCTCGACCCCGACA	0.512																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(601-603)ctC>ctG		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							80.0	78.0	79.0					10																	6261636		2203	4300	6503	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6261636C>G		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.603C>G	10.37:g.6261636C>G						PFKFB3_ENST00000379782.3_Silent_p.L201L|PFKFB3_ENST00000360521.2_Silent_p.L201L|PFKFB3_ENST00000317350.4_Silent_p.L201L|PFKFB3_ENST00000540253.1_Silent_p.L215L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379789.4_Silent_p.L181L|PFKFB3_ENST00000379785.1_Silent_p.L201L	p.L201L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			7	933	+			201			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.603C>G	CCDS7078.1																																																																																				0.512	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			10	56	0	0	0	1	0	10	56				
LRRN2	10446	broad.mit.edu	37	1	204588012	204588012	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:204588012G>C	ENST00000367175.1	-	1	3321	c.1109C>G	c.(1108-1110)cCc>cGc	p.P370R	LRRN2_ENST00000367177.3_Missense_Mutation_p.P370R|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.P370R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	370	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACAGCGGATGGGGTTGCCGTG	0.632																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1108-1110)cCc>cGc		leucine rich repeat neuronal 2							72.0	74.0	73.0					1																	204588012		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588012G>C	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1109C>G	1.37:g.204588012G>C	ENSP00000356143:p.Pro370Arg					LRRN2_ENST00000367177.3_Missense_Mutation_p.P370R|LRRN2_ENST00000367176.3_Missense_Mutation_p.P370R	p.P370R			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3321	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		370			LRRCT.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1109C>G	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925461	0.73213	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.54675	0.56;0.56;0.56	5.69	5.69	0.88448	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.42821	D	0.000647	T	0.66458	0.2791	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68093	-0.5500	10	0.87932	D	0	.	19.4159	0.94700	0.0:0.0:1.0:0.0	.	370	O75325	LRRN2_HUMAN	R	370	ENSP00000356144:P370R;ENSP00000356145:P370R;ENSP00000356143:P370R	ENSP00000356143:P370R	P	-	2	0	LRRN2	202854635	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.866000	0.99616	2.688000	0.91661	0.563000	0.77884	CCC		0.632	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		7	51	0	0	0	1	0	7	51				
GZMA	3001	broad.mit.edu	37	5	54403740	54403740	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:54403740G>A	ENST00000274306.6	+	3	369	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	112	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGCCACACGCGAAGGTGACCT	0.438																																						ENST00000274306.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(334-336)Gaa>Aaa		granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)							115.0	111.0	113.0					5																	54403740		2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54403740G>A		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.334G>A	5.37:g.54403740G>A	ENSP00000274306:p.Glu112Lys						p.E112K	NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN			3	369	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	112			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.334G>A	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	G	9.433	1.086016	0.20390	.	.	ENSG00000145649	ENST00000274306	D	0.88741	-2.42	5.5	1.56	0.23342	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.539408	0.20162	N	0.097926	T	0.78547	0.4300	L	0.41415	1.275	0.09310	N	0.999992	P	0.36282	0.546	B	0.21708	0.036	T	0.67879	-0.5556	10	0.45353	T	0.12	.	7.1932	0.25837	0.198:0.2275:0.5744:0.0	.	112	P12544	GRAA_HUMAN	K	112	ENSP00000274306:E112K	ENSP00000274306:E112K	E	+	1	0	GZMA	54439497	0.568000	0.26635	0.009000	0.14445	0.010000	0.07245	1.632000	0.37102	0.423000	0.26033	-0.137000	0.14449	GAA		0.438	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		16	72	0	0	0	1	0	16	72				
CNBD2	140894	broad.mit.edu	37	20	34572690	34572690	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr20:34572690G>A	ENST00000373973.3	+	6	879	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	CNBD2_ENST00000538900.1_Missense_Mutation_p.E236K|CNBD2_ENST00000349339.1_Missense_Mutation_p.E236K			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	236																	GTATCGGTTTGAATTTTTTAG	0.443																																						ENST00000373973.3																			0											c.(706-708)Gaa>Aaa		cyclic nucleotide binding domain containing 2							168.0	162.0	164.0					20																	34572690		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34572690G>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.706G>A	20.37:g.34572690G>A	ENSP00000363084:p.Glu236Lys					CNBD2_ENST00000538900.1_Missense_Mutation_p.E236K|CNBD2_ENST00000349339.1_Missense_Mutation_p.E236K	p.E236K							6	879	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.706G>A		.	.	.	.	.	.	.	.	.	.	G	10.05	1.244581	0.22796	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.42513	0.97;0.97;0.97	4.98	0.699	0.18093	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.880041	0.10010	N	0.727302	T	0.32315	0.0825	L	0.50919	1.6	0.19775	N	0.99995	B;B	0.15141	0.007;0.012	B;B	0.16289	0.007;0.015	T	0.29243	-1.0018	10	0.22109	T	0.4	-0.29	5.6941	0.17845	0.2808:0.1354:0.5838:0.0	.	236;236	Q96M20;Q96M20-2	CT152_HUMAN;.	K	236	ENSP00000363084:E236K;ENSP00000340954:E236K;ENSP00000442729:E236K	ENSP00000340954:E236K	E	+	1	0	C20orf152	34036104	0.136000	0.22515	0.109000	0.21407	0.753000	0.42808	0.269000	0.18589	-0.022000	0.13986	0.655000	0.94253	GAA		0.443	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		26	116	0	0	0	1	0	26	116				
PLAA	9373	broad.mit.edu	37	9	26935110	26935110	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:26935110G>A	ENST00000397292.3	-	2	661	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	PLAA_ENST00000520884.1_Missense_Mutation_p.H82Y	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	82					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)		ATTAGGCCATGAGGGTAGATG	0.418																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(244-246)Cat>Tat		phospholipase A2-activating protein							154.0	139.0	144.0					9																	26935110		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26935110G>A	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.244C>T	9.37:g.26935110G>A	ENSP00000380460:p.His82Tyr					PLAA_ENST00000520884.1_Missense_Mutation_p.H82Y	p.H82Y	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	2	661	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	82					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.244C>T	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.078199|3.078199	0.55753|0.55753	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000523212	T;T|.	0.18174|.	2.23;2.23|.	5.47|5.47	5.47|5.47	0.80525|0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.106561|.	0.64402|.	D|.	0.000005|.	T|T	0.54287|0.54287	0.1849|0.1849	L|L	0.29908|0.29908	0.895|0.895	0.41569|0.41569	D|D	0.988672|0.988672	P;P|.	0.42078|.	0.77;0.662|.	B;B|.	0.32090|.	0.14;0.14|.	T|T	0.50608|0.50608	-0.8808|-0.8808	10|5	0.56958|.	D|.	0.05|.	-7.3137|-7.3137	14.198|14.198	0.65684|0.65684	0.0:0.0:0.8505:0.1495|0.0:0.0:0.8505:0.1495	.|.	82;82|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	Y|L	82|58	ENSP00000380460:H82Y;ENSP00000429372:H82Y|.	ENSP00000380460:H82Y|.	H|S	-|-	1|2	0|0	PLAA|PLAA	26925110|26925110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.050000|5.050000	0.64251|0.64251	2.547000|2.547000	0.85894|0.85894	0.591000|0.591000	0.81541|0.81541	CAT|TCA		0.418	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		16	81	0	0	0	1	0	16	81				
BRIX1	55299	broad.mit.edu	37	5	34925420	34925420	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:34925420G>A	ENST00000336767.5	+	10	1245	c.882G>A	c.(880-882)ccG>ccA	p.P294P	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	294					ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AGAAAGAGCCGAAGACTCTTC	0.408																																						ENST00000336767.5																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(880-882)ccG>ccA		BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)							57.0	54.0	55.0					5																	34925420		2203	4300	6503	SO:0001819	synonymous_variant	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34925420G>A		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.882G>A	5.37:g.34925420G>A						BRIX1_ENST00000506023.1_3'UTR	p.P294P	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN			10	1245	+			294					A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Silent	SNP	ENST00000336767.5	37	c.882G>A	CCDS34143.1																																																																																				0.408	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		6	32	0	0	0	1	0	6	32				
KCNG4	93107	broad.mit.edu	37	16	84256345	84256345	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:84256345G>A	ENST00000308251.4	-	3	1106	c.1038C>T	c.(1036-1038)taC>taT	p.Y346Y		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	346					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGCGCATCACGTAGAGGATGC	0.697																																						ENST00000308251.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1036-1038)taC>taT		potassium voltage-gated channel, subfamily G, member 4							20.0	21.0	20.0					16																	84256345		2197	4297	6494	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256345G>A	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1038C>T	16.37:g.84256345G>A							p.Y346Y	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN			3	1106	-			346					Q96H24	Silent	SNP	ENST00000308251.4	37	c.1038C>T	CCDS10945.1																																																																																				0.697	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		5	20	0	0	0	1	0	5	20				
AP3D1	8943	broad.mit.edu	37	19	2120998	2120998	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:2120998C>T	ENST00000345016.5	-	14	1575	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V	AP3D1_ENST00000350812.6_Silent_p.V279V|AP3D1_ENST00000356926.4_Silent_p.V357V|AP3D1_ENST00000355272.6_Silent_p.V448V|AP3D1_ENST00000590683.1_5'Flank	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	448					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GGATGGCCTTCACGCGGATGG	0.652																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1342-1344)gtG>gtA		adaptor-related protein complex 3, delta 1 subunit							60.0	68.0	65.0					19																	2120998		2190	4280	6470	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2120998C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1344G>A	19.37:g.2120998C>T						AP3D1_ENST00000356926.4_Silent_p.V357V|AP3D1_ENST00000350812.6_Silent_p.V279V|AP3D1_ENST00000345016.5_Silent_p.V448V	p.V448V	NM_001261826.1	NP_001248755.1	O14617	AP3D1_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)	14	1550	-		Hepatocellular(1079;0.137)	448					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.1344G>A	CCDS42459.1																																																																																				0.652	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			13	35	0	0	0	1	0	13	35				
CCNG2	901	broad.mit.edu	37	4	78079685	78079685	+	Splice_Site	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:78079685G>C	ENST00000316355.5	+	2	356		c.e2-1		CCNG2_ENST00000395640.1_5'UTR|CCNG2_ENST00000354403.5_Splice_Site|CCNG2_ENST00000497512.1_Splice_Site|CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000509972.1_5'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2						cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTACTGCAGATGAAGGATT	0.547																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.e2-1		cyclin G2							112.0	113.0	113.0					4																	78079685		2203	4300	6503	SO:0001630	splice_region_variant	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78079685G>C	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.0-1G>C	4.37:g.78079685G>C						CCNG2_ENST00000497512.1_Splice_Site|CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000354403.5_Splice_Site|CCNG2_ENST00000395640.1_5'UTR|CCNG2_ENST00000509972.1_5'UTR		NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			2	356	+								B4DF25|Q6FGA7|Q6FGC6	Splice_Site	SNP	ENST00000316355.5	37		CCDS3581.1																																																																																				0.547	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354	Intron	13	79	0	0	0	1	0	13	79				
C5orf15	56951	broad.mit.edu	37	5	133295357	133295357	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:133295357G>A	ENST00000231512.3	-	2	696	c.494C>T	c.(493-495)tCt>tTt	p.S165F	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	165						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			GGTGTCATCAGACTCGTCGTC	0.468																																						ENST00000231512.3																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(493-495)tCt>tTt		chromosome 5 open reading frame 15							113.0	104.0	107.0					5																	133295357		2203	4300	6503	SO:0001583	missense	56951					integral to membrane		g.chr5:133295357G>A	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.494C>T	5.37:g.133295357G>A	ENSP00000231512:p.Ser165Phe					C5orf15_ENST00000507191.1_5'UTR	p.S165F	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		2	696	-			165					B2RD10|D3DQ92|Q9NRG2	Missense_Mutation	SNP	ENST00000231512.3	37	c.494C>T	CCDS4167.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.994075	0.54041	.	.	ENSG00000113583	ENST00000231512;ENST00000451255	.	.	.	5.85	5.85	0.93711	.	0.729658	0.13178	N	0.407752	T	0.49779	0.1577	L	0.56769	1.78	0.09310	N	1	D	0.56035	0.974	P	0.48141	0.568	T	0.49716	-0.8910	9	0.59425	D	0.04	-1.2345	14.7323	0.69391	0.0:0.1442:0.8558:0.0	.	165	Q8NC54	KCT2_HUMAN	F	165;65	.	ENSP00000231512:S165F	S	-	2	0	C5orf15	133323256	0.018000	0.18449	0.359000	0.25824	0.654000	0.38779	1.872000	0.39549	2.768000	0.95171	0.655000	0.94253	TCT		0.468	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251175.1	NM_020199		13	50	0	0	0	1	0	13	50				
RPF2	84154	broad.mit.edu	37	6	111306267	111306267	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:111306267G>A	ENST00000441448.2	+	2	174	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	28						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						GAAACTCAATGAAAATATTAA	0.323																																						ENST00000441448.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.(82-84)Gaa>Aaa		ribosome production factor 2 homolog (S. cerevisiae)							90.0	104.0	100.0					6																	111306267		2203	4300	6503	SO:0001583	missense	84154					nucleolus	protein binding	g.chr6:111306267G>A	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.82G>A	6.37:g.111306267G>A	ENSP00000402338:p.Glu28Lys						p.E28K	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN			2	174	+			28					Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	c.82G>A	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.604958	0.87157	.	.	ENSG00000197498	ENST00000441448	T	0.58358	0.34	5.19	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	H	0.94503	3.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.83029	-0.0163	10	0.59425	D	0.04	-36.7415	15.2689	0.73683	0.0:0.1411:0.8589:0.0	.	28	Q9H7B2	RPF2_HUMAN	K	28	ENSP00000402338:E28K	ENSP00000402338:E28K	E	+	1	0	RPF2	111412960	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.615000	0.83006	1.152000	0.42452	0.462000	0.41574	GAA		0.323	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		32	93	0	0	0	1	0	32	93				
CLCN6	1185	broad.mit.edu	37	1	11888618	11888618	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:11888618G>A	ENST00000346436.6	+	12	1110	c.1058G>A	c.(1057-1059)tGt>tAt	p.C353Y	CLCN6_ENST00000376496.3_Missense_Mutation_p.C353Y|CLCN6_ENST00000376487.3_Missense_Mutation_p.C331Y|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	353					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTCAACTGTCTGAACAAG	0.537																																						ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(1057-1059)tGt>tAt		chloride channel, voltage-sensitive 6							177.0	188.0	184.0					1																	11888618		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11888618G>A	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1058G>A	1.37:g.11888618G>A	ENSP00000234488:p.Cys353Tyr					CLCN6_ENST00000376496.3_Missense_Mutation_p.C353Y|CLCN6_ENST00000376487.3_Missense_Mutation_p.C331Y|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000312413.6_Intron	p.C353Y	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1110	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	353					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.1058G>A	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797713	0.50208	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.93859	-3.3;-3.3;-3.3	6.07	6.07	0.98685	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	N	0.05414	-0.055	0.80722	D	1	P;P	0.50369	0.893;0.934	B;P	0.50270	0.36;0.636	D	0.85052	0.0929	10	0.02654	T	1	-19.9849	19.6321	0.95713	0.0:0.0:1.0:0.0	.	331;353	F8W9R3;P51797	.;CLCN6_HUMAN	Y	353;331;353	ENSP00000234488:C353Y;ENSP00000365670:C331Y;ENSP00000365679:C353Y	ENSP00000234488:C353Y	C	+	2	0	CLCN6	11811205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	TGT		0.537	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		38	215	0	0	0	1	0	38	215				
SLC35C1	55343	broad.mit.edu	37	11	45827445	45827445	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:45827445G>A	ENST00000314134.3	+	1	1489	c.93G>A	c.(91-93)gaG>gaA	p.E31E	SLC35C1_ENST00000456334.1_Silent_p.E18E|SLC35C1_ENST00000442528.2_Silent_p.E18E	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	31					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CCAACGGGGAGAAGCCCTTTC	0.602																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(91-93)gaG>gaA		solute carrier family 35 (GDP-fucose transporter), member C1							100.0	101.0	101.0					11																	45827445		2203	4299	6502	SO:0001819	synonymous_variant	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45827445G>A		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.93G>A	11.37:g.45827445G>A						SLC35C1_ENST00000442528.2_Silent_p.E18E|SLC35C1_ENST00000456334.1_Silent_p.E18E	p.E31E	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	1	1489	+			31					B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	ENST00000314134.3	37	c.93G>A	CCDS7914.1																																																																																				0.602	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		13	74	0	0	0	1	0	13	74				
PLVAP	83483	broad.mit.edu	37	19	17476278	17476278	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:17476278C>T	ENST00000252590.4	-	3	1057	c.996G>A	c.(994-996)cgG>cgA	p.R332R	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	332				Missing (in Ref. 3; BAC04681). {ECO:0000305}.	MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTTGGCCTCCCGGGCCTGAG	0.647																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(994-996)cgG>cgA		plasmalemma vesicle associated protein							58.0	50.0	52.0					19																	17476278		2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476278C>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.996G>A	19.37:g.17476278C>T							p.R332R	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			3	1057	-			332	Missing (in Ref. 3; BAC04681).				Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.996G>A	CCDS32952.1																																																																																				0.647	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		5	37	0	0	0	1	0	5	37				
MYH11	4629	broad.mit.edu	37	16	15818249	15818249	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:15818249C>T	ENST00000300036.5	-	31	4243	c.4134G>A	c.(4132-4134)aaG>aaA	p.K1378K	MYH11_ENST00000396324.3_Silent_p.K1385K|NDE1_ENST00000396354.1_3'UTR|NDE1_ENST00000571896.1_3'UTR|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.2_Silent_p.K1378K|MYH11_ENST00000452625.2_Silent_p.K1385K|NDE1_ENST00000342673.5_3'UTR|NDE1_ENST00000396355.1_3'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1378					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGCAGCTTCTTCTTCGAGT	0.587			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4132-4134)aaG>aaA		myosin, heavy chain 11, smooth muscle							53.0	46.0	48.0					16																	15818249		2197	4299	6496	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15818249C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4134G>A	16.37:g.15818249C>T						NDE1_ENST00000342673.5_3'UTR|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000396324.3_Silent_p.K1385K|NDE1_ENST00000571896.1_3'UTR|MYH11_ENST00000300036.5_Silent_p.K1378K|MYH11_ENST00000576790.1_Silent_p.K1378K|MYH11_ENST00000452625.2_Silent_p.K1385K	p.K1378K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			31	4240	-			1378					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.4134G>A	CCDS10565.1																																																																																				0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		7	58	0	0	0	1	0	7	58				
COL22A1	169044	broad.mit.edu	37	8	139629162	139629162	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:139629162G>A	ENST00000303045.6	-	54	4311	c.3865C>T	c.(3865-3867)Ccc>Tcc	p.P1289S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1269S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1289	Collagen-like 12.|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)			CTTACCCGGGGACCGGGTGCA	0.582										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.(3865-3867)Ccc>Tcc		collagen, type XXII, alpha 1							66.0	67.0	67.0					8																	139629162		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139629162G>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.3865C>T	8.37:g.139629162G>A	ENSP00000303153:p.Pro1289Ser	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P1269S|COL22A1_ENST00000341807.4_5'UTR	p.P1289S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		54	4311	-	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)		1289			Collagen-like 12.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3865C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	8.360	0.832932	0.16820	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.98649	-5.05;-5.05	4.35	4.35	0.52113	.	0.000000	0.49916	D	0.000132	D	0.97892	0.9307	M	0.62154	1.92	0.27961	N	0.936756	P;P	0.49783	0.911;0.928	P;P	0.52856	0.587;0.711	D	0.93933	0.7216	10	0.15066	T	0.55	.	12.6914	0.56976	0.0:0.0:1.0:0.0	.	1269;1289	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1289;1269;982	ENSP00000303153:P1289S;ENSP00000387655:P1269S	ENSP00000303153:P1289S	P	-	1	0	COL22A1	139698344	1.000000	0.71417	0.998000	0.56505	0.161000	0.22273	4.488000	0.60300	2.709000	0.92574	0.555000	0.69702	CCC		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		11	70	0	0	0	1	0	11	70				
DBX1	120237	broad.mit.edu	37	11	20178646	20178646	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:20178646C>T	ENST00000524983.2	-	3	897	c.609G>A	c.(607-609)caG>caA	p.Q203Q	DBX1_ENST00000227256.3_Silent_p.Q203Q			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	203					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TGATGTACTTCTGCTTCTGGA	0.672																																						ENST00000524983.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.(607-609)caG>caA		developing brain homeobox 1							41.0	42.0	42.0					11																	20178646		2203	4300	6503	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178646C>T			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.609G>A	11.37:g.20178646C>T						DBX1_ENST00000227256.3_Silent_p.Q203Q	p.Q203Q			A6NMT0	DBX1_HUMAN			3	897	-			203						Silent	SNP	ENST00000524983.2	37	c.609G>A																																																																																					0.672	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		4	28	0	0	0	1	0	4	28				
WWC1	23286	broad.mit.edu	37	5	167849068	167849068	+	Missense_Mutation	SNP	C	C	T	rs376560859		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:167849068C>T	ENST00000265293.4	+	10	1742	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	WWC1_ENST00000521089.1_Missense_Mutation_p.R414W	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	414					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGAAGCCACCCGGCAGGTGGC	0.572																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(1240-1242)Cgg>Tgg		WW and C2 domain containing 1		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	74.0	73.0		1240,1240,1240	2.5	1.0	5		73	0,8600		0,0,4300	no	missense,missense,missense	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	414/1120,414/1119,414/1114	167849068	1,13005	2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167849068C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1240C>T	5.37:g.167849068C>T	ENSP00000265293:p.Arg414Trp					WWC1_ENST00000521089.1_Missense_Mutation_p.R414W	p.R414W	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	10	1742	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	414					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.1240C>T	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.25|19.25	3.791718|3.791718	0.70452|0.70452	2.27E-4|2.27E-4	0.0|0.0	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089	.|T;T	.|0.46819	.|0.86;0.86	4.51|4.51	2.53|2.53	0.30540|0.30540	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.64371|0.64371	0.2592|0.2592	M|M	0.75615|0.75615	2.305|2.305	0.51767|0.51767	D|D	0.999939|0.999939	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;1.0	.|P;D;D;P	.|0.66497	.|0.901;0.944;0.944;0.88	T|T	0.69461|0.69461	-0.5139|-0.5139	5|10	.|0.87932	.|D	.|0	.|.	12.4575|12.4575	0.55712|0.55712	0.4216:0.5784:0.0:0.0|0.4216:0.5784:0.0:0.0	.|.	.|414;320;320;414	.|Q8IX03-2;F5H498;B3KX05;Q8IX03	.|.;.;.;KIBRA_HUMAN	L|W	375;190|414	.|ENSP00000265293:R414W;ENSP00000427772:R414W	.|ENSP00000265293:R414W	P|R	+|+	2|1	0|2	WWC1|WWC1	167781646|167781646	0.207000|0.207000	0.23482|0.23482	0.955000|0.955000	0.39395|0.39395	0.958000|0.958000	0.62258|0.62258	0.698000|0.698000	0.25571|0.25571	0.980000|0.980000	0.38523|0.38523	0.563000|0.563000	0.77884|0.77884	CCG|CGG		0.572	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		10	63	0	0	0	1	0	10	63				
SORCS3	22986	broad.mit.edu	37	10	106899195	106899195	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:106899195G>A	ENST00000369701.3	+	8	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	418					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGTCTTATCGAAGAGAGGCC	0.502																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1252-1254)cGa>cAa		sortilin-related VPS10 domain containing receptor 3							186.0	170.0	176.0					10																	106899195		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106899195G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1253G>A	10.37:g.106899195G>A	ENSP00000358715:p.Arg418Gln						p.R418Q	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	8	1480	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	418					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1253G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008494	0.54361	.	.	ENSG00000156395	ENST00000369701	T	0.32753	1.44	5.66	3.81	0.43845	VPS10 (1);	0.200706	0.43260	D	0.000585	T	0.20047	0.0482	L	0.31207	0.915	0.34890	D	0.745424	B	0.24675	0.109	B	0.17098	0.017	T	0.18085	-1.0348	10	0.41790	T	0.15	.	8.0783	0.30729	0.2916:0.0:0.7084:0.0	.	418	Q9UPU3	SORC3_HUMAN	Q	418	ENSP00000358715:R418Q	ENSP00000358715:R418Q	R	+	2	0	SORCS3	106889185	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.674000	0.37544	1.398000	0.46701	0.561000	0.74099	CGA		0.502	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		19	65	0	0	0	1	0	19	65				
FLNB	2317	broad.mit.edu	37	3	58111340	58111340	+	Missense_Mutation	SNP	G	G	A	rs548108800		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:58111340G>A	ENST00000295956.4	+	23	4096	c.3931G>A	c.(3931-3933)Gtg>Atg	p.V1311M	FLNB_ENST00000429972.2_Missense_Mutation_p.V1311M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1142M|FLNB_ENST00000419752.2_Missense_Mutation_p.V1142M|FLNB_ENST00000348383.5_Missense_Mutation_p.V1311M|FLNB_ENST00000358537.3_Missense_Mutation_p.V1311M|FLNB_ENST00000357272.4_Missense_Mutation_p.V1311M|FLNB_ENST00000490882.1_Missense_Mutation_p.V1311M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1311	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATATGATGACGTGCCTATCCC	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20754	0.0		0.0	False		,,,				2504	0.0					ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3931-3933)Gtg>Atg		filamin B, beta							175.0	146.0	156.0					3																	58111340		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58111340G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3931G>A	3.37:g.58111340G>A	ENSP00000295956:p.Val1311Met					FLNB_ENST00000348383.5_Missense_Mutation_p.V1311M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1142M|FLNB_ENST00000295956.4_Missense_Mutation_p.V1311M|FLNB_ENST00000358537.3_Missense_Mutation_p.V1311M|FLNB_ENST00000429972.2_Missense_Mutation_p.V1311M|FLNB_ENST00000419752.2_Missense_Mutation_p.V1142M|FLNB_ENST00000490882.1_Missense_Mutation_p.V1311M	p.V1311M			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	23	4096	+			1311			Interaction with FBLP1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.3931G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987355	0.53934	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	6.06	5.18	0.71444	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.401108	0.30118	N	0.010377	D	0.88662	0.6497	M	0.82923	2.615	0.38550	D	0.949431	P;B;P;B;P;P	0.48350	0.582;0.148;0.909;0.05;0.909;0.909	B;B;P;B;P;P	0.47102	0.308;0.052;0.537;0.013;0.537;0.537	D	0.90611	0.4552	10	0.54805	T	0.06	.	15.6503	0.77088	0.0663:0.0:0.9337:0.0	.	1311;1311;1142;1142;1311;1311	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	M	1311;1311;1311;1311;1311;1311;1142;1142	ENSP00000295956:V1311M;ENSP00000420213:V1311M;ENSP00000351339:V1311M;ENSP00000415599:V1311M;ENSP00000232447:V1311M;ENSP00000349819:V1311M;ENSP00000418510:V1142M;ENSP00000414532:V1142M	ENSP00000295956:V1311M	V	+	1	0	FLNB	58086380	0.940000	0.31905	0.999000	0.59377	0.521000	0.34408	3.379000	0.52440	2.882000	0.98803	0.655000	0.94253	GTG		0.463	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		8	65	0	0	0	1	0	8	65				
FRS3	10817	broad.mit.edu	37	6	41738461	41738461	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:41738461C>G	ENST00000373018.3	-	7	1626	c.1375G>C	c.(1375-1377)Gac>Cac	p.D459H	FRS3_ENST00000259748.2_Missense_Mutation_p.D459H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	459					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTTTTGAGGTCAATCACGGCG	0.652																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1375-1377)Gac>Cac		fibroblast growth factor receptor substrate 3							87.0	89.0	88.0					6																	41738461		2203	4300	6503	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738461C>G	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1375G>C	6.37:g.41738461C>G	ENSP00000362109:p.Asp459His					FRS3_ENST00000259748.2_Missense_Mutation_p.D459H	p.D459H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1626	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		459					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1375G>C	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351501	0.82132	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.63580	-0.05;-0.05	5.59	5.59	0.84812	.	0.185035	0.56097	D	0.000027	T	0.77039	0.4072	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79009	-0.1978	10	0.87932	D	0	-43.4735	19.1985	0.93699	0.0:1.0:0.0:0.0	.	459	O43559	FRS3_HUMAN	H	459	ENSP00000362109:D459H;ENSP00000259748:D459H	ENSP00000259748:D459H	D	-	1	0	FRS3	41846439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.645000	0.89757	0.655000	0.94253	GAC		0.652	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		14	73	0	0	0	1	0	14	73				
CNGA1	1259	broad.mit.edu	37	4	47939336	47939336	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:47939336A>T	ENST00000514170.1	-	11	1494	c.1175T>A	c.(1174-1176)aTc>aAc	p.I392N	CNGA1_ENST00000544810.1_Missense_Mutation_p.I392N|CNGA1_ENST00000420489.2_Missense_Mutation_p.I392N|CNGA1_ENST00000402813.3_Missense_Mutation_p.I461N|CNGA1_ENST00000358519.4_Missense_Mutation_p.I392N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	392					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTTACCAACGATGGTAGCAAA	0.393																																						ENST00000402813.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						c.(1381-1383)aTc>aAc		cyclic nucleotide gated channel alpha 1							109.0	105.0	106.0					4																	47939336		1863	4117	5980	SO:0001583	missense	1259				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity	g.chr4:47939336A>T	M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1175T>A	4.37:g.47939336A>T	ENSP00000426862:p.Ile392Asn					CNGA1_ENST00000420489.2_Missense_Mutation_p.I392N|CNGA1_ENST00000514170.1_Missense_Mutation_p.I392N|CNGA1_ENST00000358519.4_Missense_Mutation_p.I392N|CNGA1_ENST00000544810.1_Missense_Mutation_p.I392N	p.I461N			P29973	CNGA1_HUMAN			10	1524	-			392					A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	c.1382T>A	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.616025	0.66672	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18	5.09	5.09	0.68999	Ion transport (1);	0.050379	0.85682	D	0.000000	D	0.99408	0.9791	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98425	1.0579	10	0.87932	D	0	.	14.9027	0.70692	1.0:0.0:0.0:0.0	.	392;392	Q4W5E3;P29973	.;CNGA1_HUMAN	N	461;392;392;392;392	ENSP00000384264:I461N;ENSP00000426862:I392N;ENSP00000443401:I392N;ENSP00000351320:I392N;ENSP00000389881:I392N	ENSP00000351320:I392N	I	-	2	0	CNGA1	47634093	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	8.866000	0.92307	1.920000	0.55613	0.459000	0.35465	ATC		0.393	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087		18	96	0	0	0	1	0	18	96				
ARL8B	55207	broad.mit.edu	37	3	5164258	5164258	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:5164258C>A	ENST00000256496.3	+	1	354	c.108C>A	c.(106-108)ttC>ttA	p.F36L	ARL8B_ENST00000419534.2_Missense_Mutation_p.F36L	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	36					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		AGACCACCTTCGTCAATGTCA	0.672																																						ENST00000256496.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9						c.(106-108)ttC>ttA		ADP-ribosylation factor-like 8B							31.0	29.0	30.0					3																	5164258		2203	4300	6503	SO:0001583	missense	55207				cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity	g.chr3:5164258C>A	AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25564	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10C"""	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.108C>A	3.37:g.5164258C>A	ENSP00000256496:p.Phe36Leu					ARL8B_ENST00000419534.2_Missense_Mutation_p.F36L	p.F36L	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)	1	354	+			36					B4DI85	Missense_Mutation	SNP	ENST00000256496.3	37	c.108C>A	CCDS2566.1	.	.	.	.	.	.	.	.	.	.	C	9.907	1.208426	0.22205	.	.	ENSG00000134108	ENST00000256496;ENST00000438743;ENST00000419534	T;T	0.58358	0.34;0.34	3.88	3.88	0.44766	Small GTP-binding protein domain (1);	0.049633	0.85682	N	0.000000	T	0.28665	0.0710	N	0.00823	-1.155	0.80722	D	1	B;B;B	0.25850	0.136;0.006;0.012	B;B;B	0.33620	0.167;0.031;0.021	T	0.43245	-0.9403	10	0.66056	D	0.02	-9.9341	16.3086	0.82859	0.0:1.0:0.0:0.0	.	36;36;36	B4DI85;B4DQT8;Q9NVJ2	.;.;ARL8B_HUMAN	L	36;88;36	ENSP00000256496:F36L;ENSP00000402996:F36L	ENSP00000256496:F36L	F	+	3	2	ARL8B	5139258	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.656000	0.37355	2.108000	0.64289	0.491000	0.48974	TTC		0.672	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206910.2	NM_018184		3	33	1	0	0.150653	1	0.150653	3	33				
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	3'UTR	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18846006A>G																												ENST00000412938.1:c.*3361A>G	22.37:g.18846006A>G														0	3364	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	22	0	0	0	1	0	4	22				
ZNF716	441234	broad.mit.edu	37	7	57522853	57522853	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:57522853G>A	ENST00000420713.1	+	3	353	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	81	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)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAAGAGAAATGAGATGGTAGC	0.408																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(241-243)Gag>Aag		zinc finger protein 716							96.0	76.0	82.0					7																	57522853		692	1591	2283	SO:0001583	missense	441234							g.chr7:57522853G>A	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.241G>A	7.37:g.57522853G>A	ENSP00000394248:p.Glu81Lys						p.E81K	NM_001159279.1	NP_001152751.1					3	353	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.241G>A	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222053	0.39300	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05447	3.44	0.793	0.793	0.18632	Krueppel-associated box (1);	.	.	.	.	T	0.04588	0.0125	L	0.31526	0.94	0.23876	N	0.996592	B	0.09022	0.002	B	0.08055	0.003	T	0.41395	-0.9511	9	0.34782	T	0.22	.	4.8964	0.13753	0.0:0.0:1.0:0.0	.	69	A6NP11	ZN716_HUMAN	K	81;69	ENSP00000394248:E81K	ENSP00000387687:E69K	E	+	1	0	ZNF716	57526795	0.001000	0.12720	0.708000	0.30435	0.710000	0.40934	0.042000	0.13949	0.283000	0.22279	0.289000	0.19496	GAG		0.408	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	59	0	0	0	1	0	8	59				
PPP1R12B	4660	broad.mit.edu	37	1	202406976	202406976	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:202406976G>C	ENST00000608999.1	+	10	1435	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E428Q|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.E428Q|RP11-175B9.2_ENST00000602961.1_RNA	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	428					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)			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)			TAACAAGCCAGAAGAGCCCAA	0.418																																						ENST00000406302.3																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(1282-1284)Gaa>Caa		protein phosphatase 1, regulatory subunit 12B							53.0	54.0	54.0					1																	202406976		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202406976G>C	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.1282G>C	1.37:g.202406976G>C	ENSP00000476755:p.Glu428Gln					PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.E428Q|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E428Q	p.E428Q	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		10	1435	+			428					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.1282G>C	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382767	0.82792	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184	T;T;T	0.70164	1.02;1.04;-0.46	5.71	5.71	0.89125	.	0.094954	0.46442	D	0.000295	T	0.79534	0.4462	M	0.80183	2.485	0.80722	D	1	D;D;D	0.57899	0.957;0.981;0.981	P;P;P	0.55055	0.66;0.716;0.767	T	0.77378	-0.2610	10	0.31617	T	0.26	.	19.8772	0.96880	0.0:0.0:1.0:0.0	.	428;428;428	O60237;F8W8M3;Q2TAI8	MYPT2_HUMAN;.;.	Q	428	ENSP00000384496:E428Q;ENSP00000337897:E428Q;ENSP00000417159:E428Q	ENSP00000337897:E428Q	E	+	1	0	PPP1R12B	200673599	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.460000	0.80816	2.686000	0.91538	0.650000	0.86243	GAA		0.418	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		11	37	0	0	0	1	0	11	37				
MAGI1	9223	broad.mit.edu	37	3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:65376868G>T	ENST00000497477.2	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000330909.8_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.P789T(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567																																						ENST00000330909.8																			2	Substitution - Missense(2)	p.P789T(2)	large_intestine(2)	breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2365-2367)Cca>Aca		membrane associated guanylate kinase, WW and PDZ domain containing 1							96.0	96.0	96.0					3																	65376868		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65376868G>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2365C>A	3.37:g.65376868G>T	ENSP00000424369:p.Pro789Thr					MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000497477.2_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T	p.P789T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	14	2364	-		Lung NSC(201;0.0016)	789					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2365C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516730|4.516730	0.85495|0.85495	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.24908	.|2.42;2.21;2.21;2.22;1.83;2.02	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103697	.|0.64402	.|D	.|0.000002	T|T	0.51278|0.51278	0.1665|0.1665	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;B;D;D;D	.|0.89917	.|0.998;0.033;1.0;1.0;0.998	.|D;B;D;D;D	.|0.87578	.|0.96;0.04;0.992;0.998;0.974	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.35671	.|T	.|0.21	-8.0913|-8.0913	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|789;789;789;789;789	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	K|T	669|789;789;685;664;789;789;575	.|ENSP00000385450:P789T;ENSP00000331157:P789T;ENSP00000418177:P664T;ENSP00000420323:P789T;ENSP00000424369:P789T;ENSP00000420796:P575T	.|ENSP00000331157:P789T	N|P	-|-	3|1	2|0	MAGI1|MAGI1	65351908|65351908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.476000|9.476000	0.97823|0.97823	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.567	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		19	39	1	0	7.45023e-12	1	8.3614e-12	19	39				
CSRP2BP	57325	broad.mit.edu	37	20	18142736	18142736	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr20:18142736G>C	ENST00000435364.3	+	5	1296	c.955G>C	c.(955-957)Gac>Cac	p.D319H	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.D318H|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D191H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	319					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GAGCTCCTCTGACCGCACCCC	0.522																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(955-957)Gac>Cac		CSRP2 binding protein							152.0	168.0	163.0					20																	18142736		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18142736G>C	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.955G>C	20.37:g.18142736G>C	ENSP00000392318:p.Asp319His					CSRP2BP_ENST00000377681.2_Missense_Mutation_p.D318H|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.D319H|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D191H	p.D319H			Q9H8E8	CSR2B_HUMAN			6	1605	+			319					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.955G>C	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061723	0.76187	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.17528	2.28;2.28;2.28;2.27	5.87	4.93	0.64822	.	0.047372	0.85682	D	0.000000	T	0.27765	0.0683	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.67548	0.952;0.819	T	0.07868	-1.0750	10	0.87932	D	0	-12.1663	15.3445	0.74324	0.0669:0.0:0.9331:0.0	.	191;319	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	319;318;319;191	ENSP00000278816:D319H;ENSP00000366909:D318H;ENSP00000392318:D319H;ENSP00000425909:D191H	ENSP00000278816:D319H	D	+	1	0	CSRP2BP	18090736	1.000000	0.71417	0.930000	0.37139	0.893000	0.52053	9.256000	0.95535	1.627000	0.50400	0.655000	0.94253	GAC		0.522	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		50	166	0	0	0	1	0	50	166				
COX7B2	170712	broad.mit.edu	37	4	46737152	46737152	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:46737152G>C	ENST00000396533.1	-	4	308	c.58C>G	c.(58-60)Caa>Gaa	p.Q20E	COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E|COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	20						integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(4)	5						GCCATGCTTTGCAGAATGCTT	0.423																																						ENST00000396533.1																			0				large_intestine(1)|lung(4)	5						c.(58-60)Caa>Gaa		cytochrome c oxidase subunit VIIb2							158.0	137.0	144.0					4																	46737152		2203	4300	6503	SO:0001583	missense	170712					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr4:46737152G>C	AF125109	CCDS3472.2	4p12	2011-07-04			ENSG00000170516	ENSG00000170516		"""Mitochondrial respiratory chain complex / Complex IV"""	24381	protein-coding gene	gene with protein product		609811				15623157	Standard	NM_130902		Approved		uc003gxf.3	Q8TF08	OTTHUMG00000099423	ENST00000396533.1:c.58C>G	4.37:g.46737152G>C	ENSP00000379784:p.Gln20Glu					COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E|COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E	p.Q20E			Q8TF08	CX7B2_HUMAN			4	308	-			20					Q32Q40	Missense_Mutation	SNP	ENST00000396533.1	37	c.58C>G	CCDS3472.2	.	.	.	.	.	.	.	.	.	.	G	5.784	0.329026	0.10956	.	.	ENSG00000170516	ENST00000355591;ENST00000396533;ENST00000302930;ENST00000543208;ENST00000505102	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	4.22	1.33	0.21861	.	0.393840	0.25771	N	0.028415	T	0.29256	0.0728	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.14023	0.01	T	0.24368	-1.0162	9	0.72032	D	0.01	-8.2035	6.926	0.24416	0.0:0.3509:0.4531:0.1959	.	20	Q8TF08	CX7B2_HUMAN	E	20;20;20;19;20	ENSP00000347799:Q20E;ENSP00000379784:Q20E;ENSP00000305964:Q20E;ENSP00000437439:Q19E;ENSP00000423519:Q20E	ENSP00000305964:Q20E	Q	-	1	0	COX7B2	46431909	0.003000	0.15002	0.019000	0.16419	0.193000	0.23685	1.002000	0.29796	0.255000	0.21593	0.585000	0.79938	CAA		0.423	COX7B2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313899.1	NM_130902		18	67	0	0	0	1	0	18	67				
CXCL5	6374	broad.mit.edu	37	4	74863796	74863796	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:74863796C>T	ENST00000296027.4	-	3	456	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	87					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ATTTCCTTCCCGTTCTTCAGG	0.433																																						ENST00000296027.4																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(259-261)Ggg>Agg		chemokine (C-X-C motif) ligand 5							81.0	88.0	86.0					4																	74863796		2203	4300	6503	SO:0001583	missense	6374				cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	g.chr4:74863796C>T	X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"""Endogenous ligands"""	10642	protein-coding gene	gene with protein product		600324	"""small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"""	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.259G>A	4.37:g.74863796C>T	ENSP00000296027:p.Gly87Arg						p.G87R	NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		3	456	-	Breast(15;0.00136)		87					Q96QE1	Missense_Mutation	SNP	ENST00000296027.4	37	c.259G>A	CCDS34006.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.419834	0.25552	.	.	ENSG00000163735	ENST00000296027	T	0.08282	3.11	3.78	0.129	0.14739	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.699640	0.14461	N	0.318211	T	0.21590	0.0520	M	0.88640	2.97	0.09310	N	1	D	0.63880	0.993	P	0.55545	0.778	T	0.07578	-1.0765	10	0.72032	D	0.01	.	4.8177	0.13374	0.0:0.4287:0.4093:0.162	.	87	P42830	CXCL5_HUMAN	R	87	ENSP00000296027:G87R	ENSP00000296027:G87R	G	-	1	0	CXCL5	75082660	0.000000	0.05858	0.002000	0.10522	0.279000	0.26890	-0.497000	0.06428	-0.250000	0.09555	0.306000	0.20318	GGG		0.433	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362749.1	NM_002994		10	65	0	0	0	1	0	10	65				
EN2	2020	broad.mit.edu	37	7	155255189	155255189	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:155255189C>T	ENST00000297375.4	+	2	1058	c.809C>T	c.(808-810)aCg>aTg	p.T270M		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	270					hindbrain development (GO:0030902)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron development (GO:0048666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTACCTGACGGAGCAGCGG	0.602																																						ENST00000297375.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)	4						c.(808-810)aCg>aTg		engrailed homeobox 2							71.0	72.0	72.0					7																	155255189		2203	4300	6503	SO:0001583	missense	2020					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:155255189C>T		CCDS5940.1	7q36.2	2011-06-20	2007-02-15		ENSG00000164778	ENSG00000164778		"""Homeoboxes / ANTP class : NKL subclass"""	3343	protein-coding gene	gene with protein product		131310					Standard	NM_001427		Approved		uc003wmb.3	P19622	OTTHUMG00000151354	ENST00000297375.4:c.809C>T	7.37:g.155255189C>T	ENSP00000297375:p.Thr270Met						p.T270M	NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1058	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	270					A4D252|Q549U3|Q9UD58	Missense_Mutation	SNP	ENST00000297375.4	37	c.809C>T	CCDS5940.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486776	0.84854	.	.	ENSG00000164778	ENST00000297375	D	0.96265	-3.96	5.31	5.31	0.75309	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98770	0.9586	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99564	1.0969	10	0.87932	D	0	-25.0126	18.9563	0.92659	0.0:1.0:0.0:0.0	.	270	P19622	HME2_HUMAN	M	270	ENSP00000297375:T270M	ENSP00000297375:T270M	T	+	2	0	EN2	154947950	1.000000	0.71417	0.952000	0.39060	0.969000	0.65631	5.694000	0.68272	2.650000	0.89964	0.655000	0.94253	ACG		0.602	EN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322337.1	NM_001427		16	69	0	0	0	1	0	16	69				
ZNF792	126375	broad.mit.edu	37	19	35450419	35450419	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:35450419C>T	ENST00000404801.1	-	4	726	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	ZNF792_ENST00000605484.1_Missense_Mutation_p.E47K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCACTCCTTCTACAGAAACG	0.463																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(340-342)Gaa>Aaa		zinc finger protein 792							74.0	72.0	72.0					19																	35450419		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35450419C>T	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.340G>A	19.37:g.35450419C>T	ENSP00000385099:p.Glu114Lys					ZNF792_ENST00000605484.1_Missense_Mutation_p.E47K	p.E114K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	726	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		114					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.340G>A	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	11.48	1.652750	0.29336	.	.	ENSG00000180884	ENST00000404801	T	0.06142	3.34	3.16	2.07	0.26955	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47302	-0.9128	9	0.07325	T	0.83	.	4.41	0.11429	0.0:0.6327:0.2377:0.1295	.	114	Q3KQV3	ZN792_HUMAN	K	114	ENSP00000385099:E114K	ENSP00000385099:E114K	E	-	1	0	ZNF792	40142259	0.000000	0.05858	0.035000	0.18076	0.204000	0.24138	0.288000	0.18939	0.867000	0.35654	0.467000	0.42956	GAA		0.463	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		14	47	0	0	0	1	0	14	47				
SPG11	80208	broad.mit.edu	37	15	44858160	44858160	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr15:44858160C>G	ENST00000261866.7	-	38	6907	c.6891G>C	c.(6889-6891)ttG>ttC	p.L2297F	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.L2184F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2297					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCAGAGTTATCAACTTGGTGA	0.537																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6889-6891)ttG>ttC		spastic paraplegia 11 (autosomal recessive)							57.0	47.0	51.0					15																	44858160		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44858160C>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6891G>C	15.37:g.44858160C>G	ENSP00000261866:p.Leu2297Phe					SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.L2184F	p.L2297F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	38	6907	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2297					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.6891G>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305558	0.81247	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	D;D	0.91180	-2.8;-2.28	6.16	6.16	0.99307	.	0.071338	0.56097	D	0.000039	D	0.95188	0.8440	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95002	0.8144	10	0.87932	D	0	.	17.3587	0.87344	0.0:0.8117:0.1883:0.0	.	2184;2297;2297	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	F	2297;2184	ENSP00000261866:L2297F;ENSP00000445278:L2184F	ENSP00000261866:L2297F	L	-	3	2	SPG11	42645452	0.993000	0.37304	1.000000	0.80357	0.999000	0.98932	0.737000	0.26144	2.937000	0.99478	0.650000	0.86243	TTG		0.537	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			4	26	0	0	0	1	0	4	26				
SNUPN	10073	broad.mit.edu	37	15	75901988	75901988	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr15:75901988G>A	ENST00000564644.1	-	6	991	c.413C>T	c.(412-414)tCt>tTt	p.S138F	SNUPN_ENST00000371091.5_Missense_Mutation_p.S180F|SNUPN_ENST00000308588.5_Missense_Mutation_p.S138F|SNUPN_ENST00000564675.1_Missense_Mutation_p.S138F|SNUPN_ENST00000567134.1_Missense_Mutation_p.S138F			O95149	SPN1_HUMAN	snurportin 1	138	Necessary for interaction with XPO1.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GGCACTGGTAGAACCCTGCAT	0.483																																						ENST00000564644.1																			0				endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						c.(412-414)tCt>tTt		snurportin 1							107.0	103.0	105.0					15																	75901988		2197	4294	6491	SO:0001583	missense	10073				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	g.chr15:75901988G>A	AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.413C>T	15.37:g.75901988G>A	ENSP00000454852:p.Ser138Phe					SNUPN_ENST00000567134.1_Missense_Mutation_p.S138F|SNUPN_ENST00000371091.5_Missense_Mutation_p.S180F|SNUPN_ENST00000308588.5_Missense_Mutation_p.S138F|SNUPN_ENST00000564675.1_Missense_Mutation_p.S138F	p.S138F			O95149	SPN1_HUMAN			6	991	-			138			Necessary for interaction with XPO1.		A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	ENST00000564644.1	37	c.413C>T	CCDS10281.1	.	.	.	.	.	.	.	.	.	.	g	5.223	0.226693	0.09916	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.63580	-0.05;-0.05	5.4	2.45	0.29901	.	0.281616	0.41823	D	0.000818	T	0.50667	0.1629	M	0.61703	1.905	0.53688	D	0.999978	B;B	0.17465	0.003;0.022	B;B	0.11329	0.003;0.006	T	0.30238	-0.9985	10	0.12430	T	0.62	-0.3135	6.2138	0.20644	0.0739:0.1339:0.6531:0.1391	.	180;138	C9K0X5;O95149	.;SPN1_HUMAN	F	138;180	ENSP00000309831:S138F;ENSP00000360132:S180F	ENSP00000309831:S138F	S	-	2	0	SNUPN	73689043	1.000000	0.71417	0.055000	0.19348	0.716000	0.41182	3.274000	0.51631	0.254000	0.21573	0.544000	0.68410	TCT		0.483	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701		11	49	0	0	0	1	0	11	49				
GRID1	2894	broad.mit.edu	37	10	87614258	87614258	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:87614258G>A	ENST00000327946.7	-	8	1313	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	410					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R410S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTTACCTTGCGCATGTCTTTG	0.512										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			1	Substitution - Missense(1)	p.R410S(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1228-1230)Cgc>Tgc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						129.0	112.0	118.0					10																	87614258		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87614258G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1228C>T	10.37:g.87614258G>A	ENSP00000330148:p.Arg410Cys	Multiple Myeloma(13;0.14)					p.R410C	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			8	1313	-			410					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1228C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055667	0.75960	.	.	ENSG00000182771	ENST00000327946	D	0.86694	-2.16	5.79	3.93	0.45458	.	0.558823	0.17213	N	0.182625	T	0.78786	0.4338	N	0.24115	0.695	0.80722	D	1	B	0.15719	0.014	B	0.06405	0.002	T	0.72769	-0.4193	10	0.87932	D	0	.	10.416	0.44322	0.0696:0.0:0.7963:0.1341	.	410	Q9ULK0	GRID1_HUMAN	C	410	ENSP00000330148:R410C	ENSP00000330148:R410C	R	-	1	0	GRID1	87604238	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.806000	0.62569	0.782000	0.33613	0.563000	0.77884	CGC		0.512	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		6	52	0	0	0	1	0	6	52				
LMAN2L	81562	broad.mit.edu	37	2	97370228	97370228	+	IGR	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:97370228C>G	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGAGCTGGATCAAACCTCAAC	0.488																																						ENST00000457909.1																			0				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							167.0	174.0	172.0					2																	97370228		2003	4164	6167	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97370228C>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97370228C>G										A0AVI2	FR1L5_HUMAN			0	5476	+								B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	RNA	SNP	ENST00000264963.4	37		CCDS2023.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258247	0.23051	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.23	4.32	0.51571	.	0.379291	0.19235	U	0.119320	T	0.61073	0.2318	L	0.50333	1.59	.	.	.	D;D;D	0.71674	0.996;0.997;0.998	P;P;D	0.63381	0.823;0.897;0.914	T	0.70839	-0.4763	8	0.72032	D	0.01	-14.3919	8.0009	0.30297	0.0:0.8783:0.0:0.1217	.	735;2027;736	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	M	2027;2031;736	.	ENSP00000442027:I736M	I	+	3	3	FER1L5	96733955	1.000000	0.71417	0.960000	0.40013	0.532000	0.34746	2.357000	0.44125	1.104000	0.41587	0.650000	0.86243	ATC		0.488	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		18	119	0	0	0	1	0	18	119				
PKD1L2	114780	broad.mit.edu	37	16	81211499	81211499	+	RNA	SNP	C	C	T	rs564863346		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:81211499C>T	ENST00000527937.1	-	0	319				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACGGTGCCCTCCTCTGGGGCA	0.592																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2350-2352)Gag>Aag		polycystic kidney disease 1-like 2							77.0	80.0	79.0					16																	81211499		2043	4192	6235			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81211499C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81211499C>T						PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA	p.E784K			Q7Z442	PK1L2_HUMAN			14	2349	-			784			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37	c.2350G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.61|11.61	1.688553|1.688553	0.29962|0.29962	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000531391;ENST00000337114|ENST00000526632	T;T|.	0.70869|.	-0.52;-0.52|.	4.89|4.89	2.69|2.69	0.31865|0.31865	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);|.	0.407516|.	0.25619|.	N|.	0.029426|.	T|T	0.41213|0.41213	0.1149|0.1149	.|.	.|.	.|.	0.21822|0.21822	N|N	0.999524|0.999524	P;B|.	0.42296|.	0.775;0.363|.	B;B|.	0.39660|.	0.306;0.183|.	T|T	0.28618|0.28618	-1.0038|-1.0038	9|4	0.72032|.	D|.	0.01|.	-4.5413|-4.5413	13.056|13.056	0.58980|0.58980	0.0:0.6021:0.3979:0.0|0.0:0.6021:0.3979:0.0	.|.	784;784|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	K|E	99;784|311	ENSP00000436309:E99K;ENSP00000337397:E784K|.	ENSP00000337397:E784K|.	E|G	-|-	1|2	0|0	PKD1L2|PKD1L2	79769000|79769000	0.596000|0.596000	0.26866|0.26866	0.558000|0.558000	0.28319|0.28319	0.040000|0.040000	0.13550|0.13550	0.623000|0.623000	0.24447|0.24447	1.038000|1.038000	0.40049|0.40049	0.549000|0.549000	0.68633|0.68633	GAG|GGA		0.592	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			15	69	0	0	0	1	0	15	69				
USP34	9736	broad.mit.edu	37	2	61415605	61415605	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:61415605C>T	ENST00000398571.2	-	80	10349	c.10273G>A	c.(10273-10275)Gaa>Aaa	p.E3425K	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3425					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GACATGTCTTCTGAAAACGAA	0.393																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(10273-10275)Gaa>Aaa		ubiquitin specific peptidase 34							109.0	100.0	103.0					2																	61415605		1908	4147	6055	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61415605C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10273G>A	2.37:g.61415605C>T	ENSP00000381577:p.Glu3425Lys						p.E3425K	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10349	-			3425					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.10273G>A	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.13|16.13	3.037043|3.037043	0.54896|0.54896	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269|ENST00000411912	T|.	0.03745|.	3.82|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.122041|.	0.56097|.	D|.	0.000035|.	T|T	0.56659|0.56659	0.2000|0.2000	N|N	0.24115|0.24115	0.695|0.695	0.44711|0.44711	D|D	0.997703|0.997703	B|.	0.29037|.	0.231|.	B|.	0.19391|.	0.025|.	T|T	0.49762|0.49762	-0.8905|-0.8905	10|5	0.16420|.	T|.	0.52|.	.|.	19.8041|19.8041	0.96521|0.96521	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3425|.	Q70CQ2|.	UBP34_HUMAN|.	K|K	3273;3190;3425;303|1101	ENSP00000381577:E3425K|.	ENSP00000263989:E3273K|.	E|R	-|-	1|2	0|0	USP34|USP34	61269109|61269109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.665000|4.665000	0.61547|0.61547	2.748000|2.748000	0.94277|0.94277	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.393	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			18	77	0	0	0	1	0	18	77				
CCDC142	84865	broad.mit.edu	37	2	74709223	74709223	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:74709223C>T	ENST00000393965.3	-	1	1138	c.742G>A	c.(742-744)Gca>Aca	p.A248T	TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000410003.1_5'Flank|CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.A248T	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	248										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AGCCGACTTGCCACCTGGCAA	0.672																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(742-744)Gca>Aca		coiled-coil domain containing 142							21.0	26.0	25.0					2																	74709223		2201	4297	6498	SO:0001583	missense	84865							g.chr2:74709223C>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.742G>A	2.37:g.74709223C>T	ENSP00000377537:p.Ala248Thr					CCDC142_ENST00000290418.4_Missense_Mutation_p.A248T|CCDC142_ENST00000471713.1_5'UTR	p.A248T	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			1	1138	-			248					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.742G>A		.	.	.	.	.	.	.	.	.	.	C	26.2	4.719579	0.89205	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.85484	-1.99;-1.99	4.4	4.4	0.53042	.	0.000000	0.51477	D	0.000091	D	0.90830	0.7120	M	0.70595	2.14	0.34849	D	0.741515	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.93802	0.7102	10	0.72032	D	0.01	-7.7481	12.6538	0.56776	0.0:1.0:0.0:0.0	.	248;248;248	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	T	248	ENSP00000377537:A248T;ENSP00000290418:A248T	ENSP00000290418:A248T	A	-	1	0	CCDC142	74562731	0.983000	0.35010	0.995000	0.50966	0.876000	0.50452	3.951000	0.56684	2.438000	0.82558	0.561000	0.74099	GCA		0.672	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		7	23	0	0	0	1	0	7	23				
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C	rs371946225	byFrequency	TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522																																						ENST00000550753.1																			0																																																			653786							g.chr16:22588087G>C																													16.37:g.22588087G>C								NR_003676.2						0	2562	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.522	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			4	27	0	0	0	1	0	4	27				
PCDH1	5097	broad.mit.edu	37	5	141248258	141248258	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:141248258C>T	ENST00000394536.3	-	2	918	c.779G>A	c.(778-780)cGc>cAc	p.R260H	PCDH1_ENST00000536585.1_Missense_Mutation_p.R238H|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000503492.1_Missense_Mutation_p.R260H|PCDH1_ENST00000287008.3_Missense_Mutation_p.R260H|PCDH1_ENST00000456271.1_Missense_Mutation_p.R248H	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	260	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACTGCTGGCGCGTGGGGGGCT	0.602																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(778-780)cGc>cAc		protocadherin 1							57.0	52.0	54.0					5																	141248258		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248258C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.779G>A	5.37:g.141248258C>T	ENSP00000378043:p.Arg260His					PCDH1_ENST00000394536.3_Missense_Mutation_p.R260H|PCDH1_ENST00000456271.1_Missense_Mutation_p.R248H|PCDH1_ENST00000503492.1_Missense_Mutation_p.R260H|PCDH1_ENST00000536585.1_Missense_Mutation_p.R238H	p.R260H	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	926	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	260			Cadherin 2.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.779G>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	24.1	4.496673	0.85069	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54	4.49	4.49	0.54785	Cadherin (4);Cadherin-like (1);	0.000000	0.51477	D	0.000099	T	0.76190	0.3953	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81512	-0.0899	10	0.87932	D	0	.	15.0642	0.71980	0.0:1.0:0.0:0.0	.	260;260	Q08174;Q08174-2	PCDH1_HUMAN;.	H	260;260;260;248;271;238	ENSP00000424667:R260H;ENSP00000287008:R260H;ENSP00000378043:R260H;ENSP00000403497:R248H;ENSP00000350122:R271H;ENSP00000438825:R238H	ENSP00000287008:R260H	R	-	2	0	PCDH1	141228442	0.236000	0.23804	0.936000	0.37596	0.986000	0.74619	2.030000	0.41108	2.490000	0.84030	0.556000	0.70494	CGC		0.602	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		9	29	0	0	0	1	0	9	29				
PKD1L2	114780	broad.mit.edu	37	16	81211502	81211502	+	RNA	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:81211502C>T	ENST00000527937.1	-	0	319				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTGCCCTCCTCTGGGGCAATA	0.597																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2347-2349)Gag>Aag		polycystic kidney disease 1-like 2							76.0	77.0	77.0					16																	81211502		2039	4189	6228			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81211502C>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81211502C>T						PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA	p.E783K			Q7Z442	PK1L2_HUMAN			14	2346	-			783	E -> G (in Ref. 5; BAC05222).		REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37	c.2347G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.366|9.366	1.069302|1.069302	0.20147|0.20147	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000531391;ENST00000337114|ENST00000526632	T;T|.	0.69175|.	-0.38;-0.38|.	4.89|4.89	3.93|3.93	0.45458|0.45458	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);|.	0.470074|.	0.23032|.	N|.	0.052725|.	T|T	0.41305|0.41305	0.1153|0.1153	.|.	.|.	.|.	0.22552|0.22552	N|N	0.998994|0.998994	B;B|.	0.12630|.	0.006;0.002|.	B;B|.	0.16289|.	0.015;0.006|.	T|T	0.23797|0.23797	-1.0178|-1.0178	9|4	0.44086|.	T|.	0.13|.	-4.188|-4.188	12.3528|12.3528	0.55157|0.55157	0.0:0.8166:0.1834:0.0|0.0:0.8166:0.1834:0.0	.|.	783;783|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	K|K	98;783|310	ENSP00000436309:E98K;ENSP00000337397:E783K|.	ENSP00000337397:E783K|.	E|R	-|-	1|2	0|0	PKD1L2|PKD1L2	79769003|79769003	0.019000|0.019000	0.18553|0.18553	0.305000|0.305000	0.25099|0.25099	0.031000|0.031000	0.12232|0.12232	0.152000|0.152000	0.16302|0.16302	1.062000|1.062000	0.40625|0.40625	0.549000|0.549000	0.68633|0.68633	GAG|AGA		0.597	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			16	69	0	0	0	1	0	16	69				
PSKH2	85481	broad.mit.edu	37	8	87081717	87081717	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:87081717C>A	ENST00000276616.2	-	1	209	c.135G>T	c.(133-135)agG>agT	p.R45S	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	45							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCACCTGTATCCTCTGCGCCG	0.677																																						ENST00000276616.2																			0				NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47						c.(133-135)agG>agT		protein serine kinase H2							10.0	14.0	13.0					8																	87081717		2178	4273	6451	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87081717C>A	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.135G>T	8.37:g.87081717C>A	ENSP00000276616:p.Arg45Ser					PSKH2_ENST00000517981.1_Intron	p.R45S	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		1	209	-			45					A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.135G>T	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474112	0.43942	.	.	ENSG00000147613	ENST00000276616	T	0.69306	-0.39	4.96	1.84	0.25277	Protein kinase-like domain (1);	.	.	.	.	T	0.53546	0.1803	L	0.54323	1.7	0.27381	N	0.955428	B	0.16396	0.017	B	0.10450	0.005	T	0.39981	-0.9587	9	0.23891	T	0.37	.	2.5305	0.04702	0.1952:0.5083:0.1894:0.1071	.	45	Q96QS6	KPSH2_HUMAN	S	45	ENSP00000276616:R45S	ENSP00000276616:R45S	R	-	3	2	PSKH2	87150833	0.974000	0.33945	0.804000	0.32291	0.831000	0.47069	0.403000	0.20982	0.615000	0.30124	0.467000	0.42956	AGG		0.677	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		17	16	1	0	1.15088e-07	1	1.26434e-07	17	16				
RELN	5649	broad.mit.edu	37	7	103197439	103197439	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:103197439G>T	ENST00000428762.1	-	38	5941	c.5782C>A	c.(5782-5784)Caa>Aaa	p.Q1928K	RELN_ENST00000424685.2_Missense_Mutation_p.Q1928K|RELN_ENST00000343529.5_Missense_Mutation_p.Q1928K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1928					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)		TTATAAGGTTGCCAGAGTCTG	0.383																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			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.(5782-5784)Caa>Aaa		reelin							236.0	234.0	235.0					7																	103197439		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.chr7:103197439G>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.5782C>A	7.37:g.103197439G>T	ENSP00000392423:p.Gln1928Lys					RELN_ENST00000343529.5_Missense_Mutation_p.Q1928K|RELN_ENST00000424685.2_Missense_Mutation_p.Q1928K	p.Q1928K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	38	5941	-			1928					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5782C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927229	0.92389	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.34472	1.36;1.36;1.36	5.74	5.74	0.90152	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	M	0.81802	2.56	0.80722	D	1	D;P	0.76494	0.999;0.95	D;P	0.85130	0.997;0.831	T	0.67699	-0.5603	10	0.87932	D	0	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	1928;1928	P78509-2;P78509	.;RELN_HUMAN	K	1928	ENSP00000392423:Q1928K;ENSP00000345694:Q1928K;ENSP00000388446:Q1928K	ENSP00000345694:Q1928K	Q	-	1	0	RELN	102984675	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.359000	0.97115	2.873000	0.98535	0.561000	0.74099	CAA		0.383	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		23	121	1	0	3.08376e-08	1	3.43619e-08	23	121				
GPR98	84059	broad.mit.edu	37	5	89924618	89924618	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:89924618G>T	ENST00000405460.2	+	8	1574	c.1478G>T	c.(1477-1479)cGa>cTa	p.R493L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	493					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R493Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATACAATACGAGGAGGTGCA	0.428																																						ENST00000405460.2																			1	Substitution - Missense(1)	p.R493Q(1)	lung(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(1477-1479)cGa>cTa		G protein-coupled receptor 98							76.0	78.0	78.0					5																	89924618		1991	4160	6151	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89924618G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1478G>T	5.37:g.89924618G>T	ENSP00000384582:p.Arg493Leu						p.R493L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	8	1574	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	493					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.1478G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.267444	0.23136	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.29655	1.56	5.82	-7.86	0.01187	.	0.517494	0.20760	N	0.086192	T	0.18087	0.0434	L	0.34521	1.04	0.33181	D	0.549589	B	0.22746	0.074	B	0.22152	0.038	T	0.01675	-1.1298	10	0.44086	T	0.13	.	12.5897	0.56436	0.7244:0.0:0.1932:0.0824	.	493	Q8WXG9	GPR98_HUMAN	L	493	ENSP00000384582:R493L	ENSP00000296619:R493L	R	+	2	0	GPR98	89960374	0.046000	0.20272	0.005000	0.12908	0.186000	0.23388	0.086000	0.14935	-1.627000	0.01550	-0.827000	0.03088	CGA		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		10	32	1	0	2.17888e-05	1	2.31228e-05	10	32				
CFAP54	144535	broad.mit.edu	37	12	97073407	97073407	+	Missense_Mutation	SNP	G	G	A	rs574853665		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:97073407G>A	ENST00000524981.4	+	40	5616	c.5593G>A	c.(5593-5595)Gtg>Atg	p.V1865M				Q96N23	CL055_HUMAN		0																	GCTTGTCTGCGTGCCCGTGGA	0.468																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(946-948)Gtg>Atg									116.0	115.0	115.0					12																	97073407		2203	4300	6503	SO:0001583	missense	144535							g.chr12:97073407G>A																												ENST00000524981.4:c.5593G>A	12.37:g.97073407G>A	ENSP00000431759:p.Val1865Met						p.V316M			Q6ZTY8	CL063_HUMAN			7	946	+			290						Missense_Mutation	SNP	ENST00000524981.4	37	c.946G>A		.	.	.	.	.	.	.	.	.	.	G	17.89	3.498581	0.64298	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.27	5.27	0.74061	.	0.646119	0.14772	N	0.299312	T	0.79992	0.4542	M	0.70275	2.135	0.39642	D	0.970335	D	0.89917	1.0	D	0.91635	0.999	T	0.81289	-0.1000	9	0.66056	D	0.02	-0.774	18.4799	0.90808	0.0:0.0:1.0:0.0	.	290	Q6ZTY8	CL063_HUMAN	M	1865;290	.	ENSP00000345466:V290M	V	+	1	0	C12orf63	95597538	1.000000	0.71417	0.983000	0.44433	0.465000	0.32709	6.858000	0.75461	2.437000	0.82529	0.655000	0.94253	GTG		0.468	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			27	122	0	0	0	1	0	27	122				
BPIFA2	140683	broad.mit.edu	37	20	31761968	31761968	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr20:31761968T>A	ENST00000253362.2	+	4	532	c.386T>A	c.(385-387)gTc>gAc	p.V129D	BPIFA2_ENST00000354932.5_Missense_Mutation_p.V129D			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	129						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										AGCTTCCCTGTCACCGCGAAT	0.527																																						ENST00000253362.2																			0											c.(385-387)gTc>gAc		BPI fold containing family A, member 2							182.0	129.0	147.0					20																	31761968		2203	4300	6503	SO:0001583	missense	140683					extracellular region	lipid binding	g.chr20:31761968T>A	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.386T>A	20.37:g.31761968T>A	ENSP00000253362:p.Val129Asp					BPIFA2_ENST00000354932.5_Missense_Mutation_p.V129D	p.V129D			Q96DR5	SPLC2_HUMAN			4	532	+			129					Q9BQQ0	Missense_Mutation	SNP	ENST00000253362.2	37	c.386T>A	CCDS13214.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.329654	0.41297	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.05996	3.36;3.36	3.89	1.56	0.23342	.	1.756570	0.03004	N	0.148534	T	0.18718	0.0449	L	0.54323	1.7	0.09310	N	0.999999	D	0.63880	0.993	D	0.65987	0.94	T	0.06899	-1.0801	10	0.87932	D	0	-26.9075	4.8965	0.13753	0.0:0.2993:0.0:0.7007	.	129	Q96DR5	BPIA2_HUMAN	D	129	ENSP00000253362:V129D;ENSP00000347012:V129D	ENSP00000253362:V129D	V	+	2	0	BPIFA2	31225629	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.243000	0.18106	0.323000	0.23307	0.459000	0.35465	GTC		0.527	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574		17	60	0	0	0	1	0	17	60				
PKP2	5318	broad.mit.edu	37	12	33031419	33031419	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:33031419G>A	ENST00000070846.6	-	3	419	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PKP2_ENST00000340811.4_Missense_Mutation_p.S132F	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	132					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGACTTCTGGGAGCTGTACTG	0.522																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(394-396)tCc>tTc		plakophilin 2							186.0	190.0	189.0					12																	33031419		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031419G>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.395C>T	12.37:g.33031419G>A	ENSP00000070846:p.Ser132Phe					PKP2_ENST00000070846.6_Missense_Mutation_p.S132F	p.S132F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			3	503	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		132					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.395C>T	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415036	0.62511	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.82255	-1.59;-1.54	4.87	4.87	0.63330	.	0.823860	0.10433	N	0.675332	D	0.88020	0.6325	L	0.51422	1.61	0.09310	N	1	D;D;D	0.63880	0.993;0.989;0.989	P;P;P	0.59487	0.858;0.726;0.726	T	0.80046	-0.1546	10	0.72032	D	0.01	-17.4828	15.8577	0.78994	0.0:0.0:1.0:0.0	.	132;132;132	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	F	132	ENSP00000342800:S132F;ENSP00000070846:S132F	ENSP00000070846:S132F	S	-	2	0	PKP2	32922686	0.556000	0.26538	0.044000	0.18714	0.799000	0.45148	4.030000	0.57260	2.240000	0.73641	0.650000	0.86243	TCC		0.522	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		57	215	0	0	0	1	0	57	215				
EIF3H	8667	broad.mit.edu	37	8	117668241	117668241	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:117668241C>G	ENST00000276682.4	-	7	1369	c.603G>C	c.(601-603)ttG>ttC	p.L201F	EIF3H_ENST00000521861.1_Missense_Mutation_p.L187F					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TTGCTTTTTTCAATCTGTGAA	0.328																																						ENST00000521861.1																			0				large_intestine(2)|lung(10)|skin(1)	13						c.(559-561)ttG>ttC		eukaryotic translation initiation factor 3, subunit H							100.0	99.0	99.0					8																	117668241		2203	4300	6503	SO:0001583	missense	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117668241C>G	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.603G>C	8.37:g.117668241C>G	ENSP00000276682:p.Leu201Phe					EIF3H_ENST00000276682.4_Missense_Mutation_p.L201F	p.L187F	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN			5	584	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		187						Missense_Mutation	SNP	ENST00000276682.4	37	c.561G>C		.	.	.	.	.	.	.	.	.	.	C	12.55	1.973097	0.34848	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518949;ENST00000518995	T;T;T	0.56776	0.46;0.44;0.55	6.16	5.29	0.74685	.	0.078434	0.56097	D	0.000036	T	0.44414	0.1292	L	0.47016	1.485	0.58432	D	0.999997	B;B	0.19200	0.034;0.034	B;B	0.14023	0.01;0.01	T	0.36359	-0.9751	10	0.40728	T	0.16	-12.1264	9.6964	0.40161	0.0:0.795:0.0:0.205	.	201;187	B3KS98;O15372	.;EIF3H_HUMAN	F	187;201;155;203	ENSP00000429931:L187F;ENSP00000276682:L201F;ENSP00000428669:L203F	ENSP00000276682:L201F	L	-	3	2	EIF3H	117737422	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.367000	0.52350	1.632000	0.50472	-0.142000	0.14014	TTG		0.328	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		21	68	0	0	0	1	0	21	68				
ZBTB26	57684	broad.mit.edu	37	9	125681358	125681358	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:125681358C>G	ENST00000373656.3	-	2	929	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	ZBTB26_ENST00000373654.1_Missense_Mutation_p.E286Q	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GCGTAGTTCTCCAGGTGACGA	0.473																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(856-858)Gag>Cag		zinc finger and BTB domain containing 26							136.0	122.0	127.0					9																	125681358		2203	4300	6503	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681358C>G	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.856G>C	9.37:g.125681358C>G	ENSP00000362760:p.Glu286Gln					ZBTB26_ENST00000373654.1_Missense_Mutation_p.E286Q	p.E286Q	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	929	-			286					B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.856G>C	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611244	0.66558	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.52754	0.65;0.65	5.85	5.85	0.93711	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	N	0.21373	0.66	0.80722	D	1	P	0.47191	0.891	D	0.67382	0.951	T	0.58679	-0.7594	10	0.54805	T	0.06	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	286	Q9HCK0	ZBT26_HUMAN	Q	286	ENSP00000362760:E286Q;ENSP00000362758:E286Q	ENSP00000362758:E286Q	E	-	1	0	ZBTB26	124721179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	GAG		0.473	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		20	139	0	0	0	1	0	20	139				
CCKBR	887	broad.mit.edu	37	11	6292155	6292155	+	Intron	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:6292155G>C	ENST00000334619.2	+	5	1004				CCKBR_ENST00000532396.1_Intron|CCKBR_ENST00000525462.1_Missense_Mutation_p.L311F|CCKBR_ENST00000532715.1_Intron	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAATGGAGTTGAGCTGGGAGC	0.612																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(931-933)ttG>ttC		cholecystokinin B receptor	Pentagastrin(DB00183)																																			SO:0001627	intron_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292155G>C	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.812-86G>C	11.37:g.6292155G>C						CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000532396.1_Intron	p.L311F			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	936	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	266					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.933G>C	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	0.127	-1.118525	0.01785	.	.	ENSG00000110148	ENST00000525462	T	0.57907	0.37	4.36	-8.71	0.00848	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.09310	N	1	B	0.29716	0.255	B	0.31812	0.136	T	0.23013	-1.0200	7	.	.	.	.	9.1906	0.37197	0.1903:0.3381:0.4717:0.0	.	311	P32239-2	.	F	311	ENSP00000435534:L311F	.	L	+	3	2	CCKBR	6248731	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.854000	0.01664	-2.719000	0.00389	-1.320000	0.01293	TTG		0.612	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		6	22	0	0	0	1	0	6	22				
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																	1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(262-264)Gag>Tag		cyclin-dependent kinase inhibitor 2A							13.0	16.0	15.0					9																	21971096		2176	4259	6435	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971096C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.262G>T	9.37:g.21971096C>A	ENSP00000307101:p.Glu88*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*	p.E88*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	532	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	88		E -> D (in a biliary tract tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.262G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.530771|7.530771	0.98342|0.98342	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	.|D;D	.|0.87412	.|-2.25;-2.14	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.215520	.|0.23483	.|N	.|0.047681	.|D	.|0.89287	.|0.6672	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.63880	.|0.993	.|P	.|0.58660	.|0.843	.|D	.|0.89966	.|0.4090	.|10	0.24483|0.87932	T|D	0.36|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|143	.|Q8N726	.|CD2A2_HUMAN	X|V	88|143;102	.|ENSP00000355153:G143V;ENSP00000432664:G102V	ENSP00000307101:E88X|ENSP00000355153:G143V	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961096|21961096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.901000|3.901000	0.56303|0.56303	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	30	1	0	7.48243e-07	1	8.16265e-07	10	30				
PTPN14	5784	broad.mit.edu	37	1	214551380	214551380	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:214551380C>G	ENST00000366956.5	-	14	2804	c.2610G>C	c.(2608-2610)ttG>ttC	p.L870F	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	870					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGAGCCCATTCAATGCTGCCA	0.547																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2608-2610)ttG>ttC		protein tyrosine phosphatase, non-receptor type 14							110.0	96.0	101.0					1																	214551380		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214551380C>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2610G>C	1.37:g.214551380C>G	ENSP00000355923:p.Leu870Phe					PTPN14_ENST00000543945.1_3'UTR	p.L870F	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	14	2804	-			870					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2610G>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802007	0.50315	.	.	ENSG00000152104	ENST00000366956	T	0.71698	-0.59	5.35	3.43	0.39272	.	0.000000	0.64402	D	0.000002	D	0.82999	0.5159	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.82904	-0.0226	10	0.40728	T	0.16	.	16.164	0.81739	0.0:0.5825:0.4175:0.0	.	870	Q15678	PTN14_HUMAN	F	870	ENSP00000355923:L870F	ENSP00000355923:L870F	L	-	3	2	PTPN14	212618003	1.000000	0.71417	0.848000	0.33437	0.547000	0.35210	1.224000	0.32539	0.584000	0.29591	0.563000	0.77884	TTG		0.547	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		15	51	0	0	0	1	0	15	51				
LYST	1130	broad.mit.edu	37	1	235973763	235973763	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:235973763G>T	ENST00000389794.3	-	5	529	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	LYST_ENST00000536965.1_Missense_Mutation_p.Q119K|LYST_ENST00000389793.2_Missense_Mutation_p.Q119K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	119					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)			AATTTTTCCTGAGTGGATCTT	0.373																																						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.(355-357)Cag>Aag		lysosomal trafficking regulator							61.0	64.0	63.0					1																	235973763		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973763G>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.355C>A	1.37:g.235973763G>T	ENSP00000374444:p.Gln119Lys					LYST_ENST00000536965.1_Missense_Mutation_p.Q119K|LYST_ENST00000389793.2_Missense_Mutation_p.Q119K	p.Q119K			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	529	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	119					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.355C>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739309	0.49045	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.13307	2.6;2.6;2.6	5.8	5.8	0.92144	.	0.483674	0.23563	N	0.046836	T	0.25791	0.0628	L	0.56769	1.78	0.42028	D	0.991014	P;B	0.52577	0.954;0.101	P;B	0.49829	0.623;0.017	T	0.00312	-1.1826	10	0.31617	T	0.26	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	119;119	Q99698-3;Q99698	.;LYST_HUMAN	K	119	ENSP00000374444:Q119K;ENSP00000374443:Q119K;ENSP00000438315:Q119K	ENSP00000374443:Q119K	Q	-	1	0	LYST	234040386	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.950000	0.75977	2.758000	0.94735	0.563000	0.77884	CAG		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			14	58	1	0	1.49906e-05	1	1.62398e-05	14	58				
FOS	2353	broad.mit.edu	37	14	75747960	75747960	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr14:75747960C>T	ENST00000303562.4	+	4	1185	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S	FOS_ENST00000555347.1_Missense_Mutation_p.P178S|FOS_ENST00000555686.1_Missense_Mutation_p.P212S|FOS_ENST00000535987.1_Missense_Mutation_p.P290S	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	326					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CCTGTGCACTCCGGTGGTCAC	0.632																																						ENST00000303562.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(976-978)Ccg>Tcg		FBJ murine osteosarcoma viral oncogene homolog							69.0	74.0	73.0					14																	75747960		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75747960C>T	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.976C>T	14.37:g.75747960C>T	ENSP00000306245:p.Pro326Ser					FOS_ENST00000555347.1_Missense_Mutation_p.P178S|FOS_ENST00000535987.1_Missense_Mutation_p.P290S|FOS_ENST00000555686.1_Missense_Mutation_p.P212S	p.P326S	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	4	1185	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	326					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.976C>T	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827925	0.71143	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555347	T;T;T	0.77877	-0.48;-0.42;-1.13	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89410	0.6707	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.90382	0.4389	10	0.72032	D	0.01	-8.2075	19.0426	0.93006	0.0:1.0:0.0:0.0	.	290;326	B4DQ65;P01100	.;FOS_HUMAN	S	326;290;212;178	ENSP00000306245:P326S;ENSP00000442268:P290S;ENSP00000452590:P212S	ENSP00000306245:P326S	P	+	1	0	FOS	74817713	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.463000	0.80869	2.598000	0.87819	0.563000	0.77884	CCG		0.632	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		18	113	0	0	0	1	0	18	113				
FADD	8772	broad.mit.edu	37	11	70052566	70052566	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:70052566C>A	ENST00000301838.4	+	2	911	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	RP11-805J14.5_ENST00000526174.1_RNA|RP11-805J14.5_ENST00000527232.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	205					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCATCTACCTCCGAAGCGTCC	0.592																																						ENST00000301838.4																			0				endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9						c.(613-615)tCc>tAc		Fas (TNFRSF6)-associated via death domain							47.0	39.0	42.0					11																	70052566		2200	4294	6494	SO:0001583	missense	8772				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	g.chr11:70052566C>A	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"""Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein"""	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.614C>A	11.37:g.70052566C>A	ENSP00000301838:p.Ser205Tyr					RP11-805J14.5_ENST00000526174.1_RNA	p.S205Y	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		2	911	+	Esophageal squamous(2;1.19e-45)		205					Q14866|Q6IBR4	Missense_Mutation	SNP	ENST00000301838.4	37	c.614C>A	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252597	0.39797	.	.	ENSG00000168040	ENST00000301838	T	0.80653	-1.4	2.91	-1.16	0.09678	.	1.530510	0.04556	N	0.390738	T	0.68961	0.3058	L	0.43152	1.355	0.09310	N	1	P	0.40476	0.718	B	0.30646	0.118	T	0.59295	-0.7481	10	0.52906	T	0.07	-0.0808	6.1918	0.20528	0.0:0.4773:0.0:0.5227	.	205	Q13158	FADD_HUMAN	Y	205	ENSP00000301838:S205Y	ENSP00000301838:S205Y	S	+	2	0	FADD	69730214	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.658000	0.05329	-0.261000	0.09405	-0.291000	0.09656	TCC		0.592	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1	NM_003824		12	116	1	0	6.40141e-05	1	6.56987e-05	12	116				
R3HDM1	23518	broad.mit.edu	37	2	136467655	136467655	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:136467655G>A	ENST00000264160.4	+	22	2855	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	829							poly(A) RNA binding (GO:0044822)	p.G829R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCTGGTGGGGGGATGGTGAT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264160.4																			1	Substitution - Missense(1)	p.G829R(1)	large_intestine(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(2485-2487)Ggg>Agg		R3H domain containing 1							95.0	92.0	93.0					2																	136467655		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136467655G>A	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2485G>A	2.37:g.136467655G>A	ENSP00000264160:p.Gly829Arg		OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R	p.G829R	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	22	2855	+			829					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.2485G>A	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.559978|4.559978	0.86335|0.86335	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000429703|ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T|T;T;T;T;T	0.45668|0.72394	0.89|-0.49;0.4;-0.52;-0.65;0.4	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.121195|0.121195	0.56097|0.56097	D|D	0.000031|0.000031	D|D	0.83478|0.83478	0.5263|0.5263	M|M	0.66939|0.66939	2.045|2.045	0.47659|0.47659	D|D	0.999484|0.999484	.|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|D	0.85041|0.85041	0.0923|0.0923	8|10	0.46703|0.72032	T|D	0.11|0.01	-8.6574|-8.6574	18.5376|18.5376	0.91015|0.91015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|701;830;774;829	.|G5E9G8;E9PBB4;E9PG42;Q15032	.|.;.;.;R3HD1_HUMAN	E|R	552|701;829;700;774;830	ENSP00000403406:G552E|ENSP00000386457:G701R;ENSP00000264160:G829R;ENSP00000331396:G700R;ENSP00000386877:G774R;ENSP00000387010:G830R	ENSP00000403406:G552E|ENSP00000264160:G829R	G|G	+|+	2|1	0|0	R3HDM1|R3HDM1	136184125|136184125	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	5.841000|5.841000	0.69409|0.69409	2.460000|2.460000	0.83146|0.83146	0.650000|0.650000	0.86243|0.86243	GGG|GGG		0.453	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		19	69	0	0	0	1	0	19	69				
MAP4K1	11184	broad.mit.edu	37	19	39108455	39108455	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:39108455C>T	ENST00000591517.1	-	1	109	c.81G>A	c.(79-81)acG>acA	p.T27T	EIF3K_ENST00000248342.4_5'Flank|EIF3K_ENST00000538434.1_5'Flank|MAP4K1_ENST00000586296.1_Silent_p.T27T|EIF3K_ENST00000592558.1_5'Flank|EIF3K_ENST00000593149.1_5'Flank|EIF3K_ENST00000545173.2_5'Flank|MAP4K1_ENST00000396857.2_Silent_p.T27T|MAP4K1_ENST00000589130.1_Silent_p.T23T|EIF3K_ENST00000588934.1_5'Flank	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	27	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTTCCCCATACGTGCCGCCAC	0.607																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(79-81)acG>acA		mitogen-activated protein kinase kinase kinase kinase 1							80.0	84.0	83.0					19																	39108455		1941	4166	6107	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39108455C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.81G>A	19.37:g.39108455C>T						MAP4K1_ENST00000589130.1_Silent_p.T23T|MAP4K1_ENST00000396857.2_Silent_p.T27T|MAP4K1_ENST00000586296.1_Silent_p.T27T	p.T27T	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	109	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		27			Protein kinase.			Silent	SNP	ENST00000591517.1	37	c.81G>A	CCDS59385.1																																																																																				0.607	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		17	78	0	0	0	1	0	17	78				
C17orf47	284083	broad.mit.edu	37	17	56621550	56621550	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr17:56621550G>C	ENST00000321691.3	-	0	179				RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47											NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGACCATCTGATAGATTGTG	0.463																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24								chromosome 17 open reading frame 47							128.0	130.0	130.0					17																	56621550		2203	4300	6503			284083							g.chr17:56621550G>C		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.-3C>G	17.37:g.56621550G>C						RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA		NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			0	179	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)							Q8N821	Translation_Start_Site	SNP	ENST00000321691.3	37		CCDS32691.1																																																																																				0.463	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		16	111	0	0	0	1	0	16	111				
VPS13B	157680	broad.mit.edu	37	8	100829940	100829940	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:100829940C>T	ENST00000358544.2	+	45	8456	c.8345C>T	c.(8344-8346)aCg>aTg	p.T2782M	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T2757M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2782					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATGAACTGACGGAGCTGTGT	0.448																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(8344-8346)aCg>aTg		vacuolar protein sorting 13 homolog B (yeast)							143.0	129.0	134.0					8																	100829940		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100829940C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8345C>T	8.37:g.100829940C>T	ENSP00000351346:p.Thr2782Met					VPS13B_ENST00000357162.2_Missense_Mutation_p.T2757M|VPS13B_ENST00000395996.1_3'UTR	p.T2782M	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		45	8456	+	Breast(36;3.73e-07)		2782					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8345C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945910	0.73672	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69306	-0.39;-0.39	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.71316	0.3325	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.72447	-0.4291	10	0.41790	T	0.15	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	2757;2782	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	M	2757;2782	ENSP00000349685:T2757M;ENSP00000351346:T2782M	ENSP00000349685:T2757M	T	+	2	0	VPS13B	100899116	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.252000	0.78309	2.861000	0.98227	0.655000	0.94253	ACG		0.448	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		17	73	0	0	0	1	0	17	73				
SYNPO2L	79933	broad.mit.edu	37	10	75406500	75406500	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:75406500C>G	ENST00000394810.2	-	4	3059	c.2910G>C	c.(2908-2910)tgG>tgC	p.W970C	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.W746C	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	970						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCCCAGGCCTCCACACATGAG	0.597																																						ENST00000394810.2																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2908-2910)tgG>tgC		synaptopodin 2-like							75.0	82.0	79.0					10																	75406500		2203	4300	6503	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406500C>G	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2910G>C	10.37:g.75406500C>G	ENSP00000378289:p.Trp970Cys					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.W746C	p.W970C	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	3059	-	Prostate(51;0.0112)		970					A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2910G>C	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250899	0.80135	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.68903	-0.36;-0.2	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.76018	0.3929	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78797	-0.2063	10	0.87932	D	0	-9.2324	18.3415	0.90307	0.0:1.0:0.0:0.0	.	970;746	Q9H987;Q9H987-2	SYP2L_HUMAN;.	C	746;970	ENSP00000361964:W746C;ENSP00000378289:W970C	ENSP00000361964:W746C	W	-	3	0	SYNPO2L	75076506	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.913000	0.75759	2.546000	0.85860	0.561000	0.74099	TGG		0.597	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		18	73	0	0	0	1	0	18	73				
NWD1	284434	broad.mit.edu	37	19	16860197	16860197	+	Silent	SNP	C	C	T	rs377186225		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:16860197C>T	ENST00000552788.1	+	4	744	c.744C>T	c.(742-744)cgC>cgT	p.R248R	NWD1_ENST00000379808.3_Silent_p.R248R|NWD1_ENST00000523826.1_Silent_p.R42R|NWD1_ENST00000339803.6_Silent_p.R113R|NWD1_ENST00000524140.2_Silent_p.R248R|NWD1_ENST00000549814.1_Silent_p.R248R			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	248							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTGGAGCCGCGACTTGGTGA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18414	0.0		0.001	False		,,,				2504	0.0					ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(742-744)cgC>cgT		NACHT and WD repeat domain containing 1		C		0,4406		0,0,2203	49.0	47.0	48.0		744	-8.7	0.5	19		48	1,8599		0,1,4299	no	coding-synonymous	NWD1	NM_001007525.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		248/1433	16860197	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16860197C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.744C>T	19.37:g.16860197C>T						NWD1_ENST00000523826.1_Silent_p.R42R|NWD1_ENST00000379808.3_Silent_p.R248R|NWD1_ENST00000339803.6_Silent_p.R113R|NWD1_ENST00000552788.1_Silent_p.R248R|NWD1_ENST00000549814.1_Silent_p.R248R	p.R248R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1162	+			248					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.744C>T																																																																																					0.602	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		10	49	0	0	0	1	0	10	49				
GK2	2712	broad.mit.edu	37	4	80327777	80327777	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:80327777G>A	ENST00000358842.3	-	1	1595	c.1578C>T	c.(1576-1578)atC>atT	p.I526I		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	29					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GACTAGAGAAGATAGAAGGAT	0.423																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1576-1578)atC>atT		glycerol kinase 2							112.0	104.0	107.0					4																	80327777		2203	4300	6503	SO:0001819	synonymous_variant	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80327777G>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1578C>T	4.37:g.80327777G>A							p.I526I	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	1595	-			526					Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	c.1578C>T	CCDS3585.1																																																																																				0.423	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		10	50	0	0	0	1	0	10	50				
MYH9	4627	broad.mit.edu	37	22	36685215	36685215	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr22:36685215C>T	ENST00000216181.5	-	32	4703	c.4473G>A	c.(4471-4473)caG>caA	p.Q1491Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1491					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCGCCTTCTGCTCCATGG	0.637			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4471-4473)caG>caA		myosin, heavy chain 9, non-muscle							71.0	56.0	61.0					22																	36685215		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36685215C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4473G>A	22.37:g.36685215C>T							p.Q1491Q	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			32	4703	-			1491					A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.4473G>A	CCDS13927.1																																																																																				0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		10	33	0	0	0	1	0	10	33				
SLC25A3	5250	broad.mit.edu	37	12	98993752	98993752	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:98993752C>T	ENST00000228318.3	+	6	784	c.664C>T	c.(664-666)Cct>Tct	p.P222S	SLC25A3_ENST00000552981.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000401722.3_Missense_Mutation_p.P221S|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000188376.5_Missense_Mutation_p.P221S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.P222S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.P221S	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	222					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GGGGGTTGCTCCTCTCTGGAT	0.438																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(661-663)Cct>Tct		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							129.0	113.0	119.0					12																	98993752		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98993752C>T		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.664C>T	12.37:g.98993752C>T	ENSP00000228318:p.Pro222Ser					SLC25A3_ENST00000551917.1_Missense_Mutation_p.P222S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000401722.3_Missense_Mutation_p.P221S|SLC25A3_ENST00000552981.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000228318.3_Missense_Mutation_p.P222S	p.P221S	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	5	1015	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	222					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.661C>T	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744189	0.89663	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000552981;ENST00000549338;ENST00000548847	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	4.85	4.85	0.62838	Mitochondrial carrier domain (2);	0.149414	0.64402	N	0.000008	D	0.93769	0.8008	H	0.96239	3.79	0.80722	D	1	D;D;D;D	0.61697	0.968;0.975;0.972;0.99	P;D;D;D	0.69824	0.814;0.934;0.966;0.947	D	0.95588	0.8652	10	0.72032	D	0.01	-9.1996	16.5291	0.84353	0.0:1.0:0.0:0.0	.	221;221;222;221	F8VVM2;B2RE88;Q00325;Q00325-2	.;.;MPCP_HUMAN;.	S	221;221;222;222;221;221;221	ENSP00000383898:P221S;ENSP00000188376:P221S;ENSP00000228318:P222S;ENSP00000447310:P222S;ENSP00000448708:P221S;ENSP00000447740:P221S;ENSP00000449166:P221S	ENSP00000188376:P221S	P	+	1	0	SLC25A3	97517883	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.590000	0.67530	2.408000	0.81797	0.655000	0.94253	CCT		0.438	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		10	61	0	0	0	1	0	10	61				
SIK1	150094	broad.mit.edu	37	21	44845977	44845977	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr21:44845977C>A	ENST00000270162.6	-	2	214	c.82G>T	c.(82-84)Gac>Tac	p.D28Y		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CGCTCGATGTCGTAAAAACCC	0.677																																						ENST00000270162.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						c.(82-84)Gac>Tac		salt-inducible kinase 1							22.0	24.0	23.0					21																	44845977		2199	4295	6494	SO:0001583	missense	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44845977C>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.82G>T	21.37:g.44845977C>A	ENSP00000270162:p.Asp28Tyr						p.D28Y	NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN			2	214	-			28			Protein kinase.		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	c.82G>T	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994864	0.93167	.	.	ENSG00000142178	ENST00000270162	T	0.65916	-0.18	3.7	3.7	0.42460	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059368	0.64402	D	0.000003	T	0.59088	0.2168	N	0.16862	0.45	0.80722	D	1	P	0.43938	0.822	P	0.52031	0.688	T	0.67360	-0.5690	10	0.87932	D	0	.	15.5171	0.75833	0.0:1.0:0.0:0.0	.	28	P57059	SIK1_HUMAN	Y	28	ENSP00000270162:D28Y	ENSP00000270162:D28Y	D	-	1	0	SIK1	43670405	1.000000	0.71417	0.991000	0.47740	0.915000	0.54546	7.297000	0.78799	1.611000	0.50210	0.558000	0.71614	GAC		0.677	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		4	5	1	0	0.150653	1	0.150653	4	5				
SMG7	9887	broad.mit.edu	37	1	183519946	183519946	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:183519946C>G	ENST00000347615.2	+	20	3163	c.3044C>G	c.(3043-3045)tCt>tGt	p.S1015C	SMG7_ENST00000507469.1_Missense_Mutation_p.S1019C|SMG7_ENST00000515829.2_Missense_Mutation_p.S969C|SMG7_ENST00000508461.1_Missense_Mutation_p.S1023C|SMG7_ENST00000367537.3_Missense_Mutation_p.S1048C|SMG7_ENST00000456731.2_Missense_Mutation_p.S927C	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1015	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CTACCCAGCTCTCCTCCAACA	0.438																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3142-3144)tCt>tGt		SMG7 nonsense mediated mRNA decay factor							129.0	123.0	125.0					1																	183519946		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183519946C>G	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3044C>G	1.37:g.183519946C>G	ENSP00000340766:p.Ser1015Cys					SMG7_ENST00000508461.1_Missense_Mutation_p.S1023C|SMG7_ENST00000507469.1_Missense_Mutation_p.S1019C|SMG7_ENST00000347615.2_Missense_Mutation_p.S1015C|SMG7_ENST00000456731.2_Missense_Mutation_p.S927C|SMG7_ENST00000515829.2_Missense_Mutation_p.S969C	p.S1048C			Q92540	SMG7_HUMAN			22	3338	+			1015					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.3143C>G	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612784	0.87258	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.32753	1.47;1.49;1.45;1.52;1.44;1.44	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.993;0.993;0.995;0.993;0.993	T	0.37244	-0.9714	10	0.51188	T	0.08	-13.0479	19.6597	0.95861	0.0:1.0:0.0:0.0	.	1023;927;969;1015;1019	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	C	927;1048;1023;1015;1019;969	ENSP00000407629:S927C;ENSP00000356507:S1048C;ENSP00000426915:S1023C;ENSP00000340766:S1015C;ENSP00000425133:S1019C;ENSP00000421358:S969C	ENSP00000340766:S1015C	S	+	2	0	SMG7	181786569	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.071000	0.76770	2.708000	0.92522	0.650000	0.86243	TCT		0.438	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		19	75	0	0	0	1	0	19	75				
PLVAP	83483	broad.mit.edu	37	19	17476143	17476143	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:17476143C>T	ENST00000252590.4	-	3	1192	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	377					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGCCAGCTCCATCCTGAGCT	0.617																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1129-1131)atG>atA		plasmalemma vesicle associated protein							98.0	85.0	89.0					19																	17476143		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476143C>T	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.1131G>A	19.37:g.17476143C>T	ENSP00000252590:p.Met377Ile						p.M377I	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			3	1192	-			377					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.1131G>A	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	0.225	-1.025403	0.02061	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.31	0.333	0.15943	.	0.802559	0.11749	N	0.533270	T	0.22704	0.0548	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20874	-1.0262	9	0.22706	T	0.39	-24.9381	5.3439	0.15998	0.0:0.4839:0.3318:0.1843	.	377	Q9BX97	PLVAP_HUMAN	I	377	.	ENSP00000252590:M377I	M	-	3	0	PLVAP	17337143	0.007000	0.16637	0.094000	0.20943	0.154000	0.21943	-0.007000	0.12810	0.218000	0.20820	0.462000	0.41574	ATG		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		9	62	0	0	0	1	0	9	62				
CFHR2	3080	broad.mit.edu	37	1	196879600	196879600	+	Intron	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:196879600C>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.P329L|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Missense_Mutation_p.P83L			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CCAACAGTCCCATGCCTCAGT	0.388																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(985-987)cCa>cTa		complement factor H-related 4																																				SO:0001627	intron_variant	10877							g.chr1:196879600C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-38985C>T	1.37:g.196879600C>T						CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.P83L|CFHR2_ENST00000367421.3_Intron	p.P329L	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					6	1123	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.986C>T		.	.	.	.	.	.	.	.	.	.	.	17.38	3.376183	0.61735	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000538553	T;T	0.77358	-1.09;-1.09	2.42	1.48	0.22813	.	.	.	.	.	D	0.85265	0.5657	M	0.80847	2.515	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71421	-0.4598	9	0.59425	D	0.04	.	5.0592	0.14548	0.0:0.8206:0.0:0.1794	.	329;330	C9J7J7;Q5DVJ7	.;.	L	329;83;83	ENSP00000356386:P329L;ENSP00000356388:P83L	ENSP00000356386:P329L	P	+	2	0	CFHR4	195146223	0.012000	0.17670	0.001000	0.08648	0.035000	0.12851	0.939000	0.28978	0.567000	0.29293	0.195000	0.17529	CCA		0.388	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		7	55	0	0	0	1	0	7	55				
RTP4	64108	broad.mit.edu	37	3	187089110	187089110	+	Silent	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:187089110C>A	ENST00000259030.2	+	2	800	c.690C>A	c.(688-690)gtC>gtA	p.V230V		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	230					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACATCTGTGTCTTTATTTTGC	0.413																																						ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(688-690)gtC>gtA		receptor (chemosensory) transporter protein 4							75.0	63.0	67.0					3																	187089110		2203	4300	6503	SO:0001819	synonymous_variant	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187089110C>A	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.690C>A	3.37:g.187089110C>A							p.V230V	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	800	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		230					Q9H4F3	Silent	SNP	ENST00000259030.2	37	c.690C>A	CCDS33910.1																																																																																				0.413	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		9	29	1	0	2.17888e-05	1	2.31228e-05	9	29				
CD101	9398	broad.mit.edu	37	1	117568409	117568409	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:117568409G>A	ENST00000256652.4	+	8	2765	c.2707G>A	c.(2707-2709)Gat>Aat	p.D903N	CD101_ENST00000369470.1_Missense_Mutation_p.D903N|RP11-27K13.3_ENST00000421254.1_RNA|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	903	Ig-like C2-type 7.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAGATGGAGGATGCAGGAAT	0.537																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2707-2709)Gat>Aat		CD101 molecule							140.0	120.0	127.0					1																	117568409		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117568409G>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2707G>A	1.37:g.117568409G>A	ENSP00000256652:p.Asp903Asn					CD101_ENST00000369470.1_Missense_Mutation_p.D903N|RP11-27K13.3_ENST00000445523.1_RNA	p.D903N	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			8	2765	+			903			Ig-like C2-type 7.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.2707G>A	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123401	0.77436	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	D;D	0.87809	-2.3;-2.3	5.15	5.15	0.70609	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000017	D	0.92273	0.7549	M	0.80746	2.51	0.37601	D	0.920546	D	0.89917	1.0	D	0.91635	0.999	D	0.93217	0.6605	10	0.87932	D	0	-21.6935	13.996	0.64402	0.0:0.0:1.0:0.0	.	903	Q93033	IGSF2_HUMAN	N	903	ENSP00000256652:D903N;ENSP00000358482:D903N	ENSP00000256652:D903N	D	+	1	0	CD101	117369932	0.995000	0.38212	1.000000	0.80357	0.689000	0.40095	3.660000	0.54496	2.677000	0.91161	0.561000	0.74099	GAT		0.537	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		10	62	0	0	0	1	0	10	62				
MTIF3	219402	broad.mit.edu	37	13	28014163	28014163	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr13:28014163C>G	ENST00000381116.1	-	5	657	c.423G>C	c.(421-423)caG>caC	p.Q141H	MTIF3_ENST00000381120.3_Missense_Mutation_p.Q141H|MTIF3_ENST00000431572.2_Missense_Mutation_p.Q141H|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000405591.2_Missense_Mutation_p.Q141H			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	141					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CCCTCAGCCTCTGCCGCTCCT	0.493																																						ENST00000381116.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(421-423)caG>caC		mitochondrial translational initiation factor 3							80.0	69.0	73.0					13																	28014163		2203	4300	6503	SO:0001583	missense	219402				regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity	g.chr13:28014163C>G	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.423G>C	13.37:g.28014163C>G	ENSP00000370508:p.Gln141His					MTIF3_ENST00000431572.2_Missense_Mutation_p.Q141H|MTIF3_ENST00000405591.2_Missense_Mutation_p.Q141H|MTIF3_ENST00000381120.3_Missense_Mutation_p.Q141H|MTIF3_ENST00000461838.1_5'UTR	p.Q141H			Q9H2K0	IF3M_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)	5	657	-		Lung SC(185;0.0161)	141					Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	c.423G>C	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849371	0.51270	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.97	-6.51	0.01878	Translation initiation factor 3, N-terminal (3);	0.148182	0.46442	D	0.000291	T	0.17280	0.0415	L	0.29908	0.895	0.09310	N	1	P	0.45126	0.851	P	0.45377	0.478	T	0.13098	-1.0522	10	0.45353	T	0.12	-7.896	4.5853	0.12279	0.1031:0.3154:0.3678:0.2138	.	141	Q9H2K0	IF3M_HUMAN	H	141	ENSP00000400084:Q141H;ENSP00000384659:Q141H;ENSP00000370508:Q141H;ENSP00000370512:Q141H	ENSP00000370508:Q141H	Q	-	3	2	MTIF3	26912163	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.508000	0.00960	-0.990000	0.03481	-0.140000	0.14226	CAG		0.493	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		10	41	0	0	0	1	0	10	41				
MACF1	23499	broad.mit.edu	37	1	39908187	39908187	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:39908187G>C	ENST00000372915.3	+	76	18836	c.18749G>C	c.(18748-18750)aGa>aCa	p.R6250T	MACF1_ENST00000567887.1_Missense_Mutation_p.R6388T|MACF1_ENST00000317713.7_Missense_Mutation_p.R4292T|MACF1_ENST00000539005.1_Missense_Mutation_p.R4162T|MACF1_ENST00000564288.1_Missense_Mutation_p.R6351T|MACF1_ENST00000545844.1_Missense_Mutation_p.R4292T|MACF1_ENST00000289893.4_Missense_Mutation_p.R4794T|MACF1_ENST00000361689.2_Missense_Mutation_p.R4292T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6250					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)			GATGCTCAGAGACCAATAAGT	0.433																																						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.(19051-19053)aGa>aCa		microtubule-actin crosslinking factor 1							68.0	69.0	69.0					1																	39908187		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.chr1:39908187G>C	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.18749G>C	1.37:g.39908187G>C	ENSP00000362006:p.Arg6250Thr					MACF1_ENST00000545844.1_Missense_Mutation_p.R4292T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6388T|MACF1_ENST00000317713.7_Missense_Mutation_p.R4292T|MACF1_ENST00000289893.4_Missense_Mutation_p.R4794T|MACF1_ENST00000361689.2_Missense_Mutation_p.R4292T|MACF1_ENST00000539005.1_Missense_Mutation_p.R4162T|MACF1_ENST00000372915.3_Missense_Mutation_p.R6250T	p.R6351T			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)		77	19829	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6359					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.19052G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.99|19.99	3.928766|3.928766	0.73327|0.73327	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.50813	.|0.73;0.73;0.73;0.73;0.73;0.73	6.03|6.03	5.12|5.12	0.69794|0.69794	.|.	.|0.169752	.|0.41605	.|D	.|0.000853	T|T	0.56601|0.56601	0.1996|0.1996	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|P;D	.|0.58970	.|0.825;0.984	.|P;P	.|0.59357	.|0.58;0.856	T|T	0.59888|0.59888	-0.7369|-0.7369	5|10	.|0.87932	.|D	.|0	.|.	9.8648|9.8648	0.41136|0.41136	0.1919:0.0:0.8081:0.0|0.1919:0.0:0.8081:0.0	.|.	.|6250;4292	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	D|T	3295|4292;6250;4292;4292;4162;4794	.|ENSP00000439537:R4292T;ENSP00000362006:R6250T;ENSP00000354573:R4292T;ENSP00000313438:R4292T;ENSP00000444364:R4162T;ENSP00000289893:R4794T	.|ENSP00000289893:R4794T	E|R	+|+	3|2	2|0	MACF1|MACF1	39680774|39680774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.898000|3.898000	0.56281|0.56281	1.569000|1.569000	0.49696|0.49696	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		17	49	0	0	0	1	0	17	49				
KDM4B	23030	broad.mit.edu	37	19	5133893	5133893	+	Splice_Site	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:5133893G>T	ENST00000159111.4	+	14	2124		c.e14-1		KDM4B_ENST00000536461.1_Splice_Site	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGTTCTTCTAGAGGCATCCCC	0.612																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.e14-1		lysine (K)-specific demethylase 4B							31.0	35.0	34.0					19																	5133893		2203	4296	6499	SO:0001630	splice_region_variant	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5133893G>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1907-1G>T	19.37:g.5133893G>T						KDM4B_ENST00000536461.1_Splice_Site		NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			14	2124	+								B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Splice_Site	SNP	ENST00000159111.4	37		CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126066	0.37533	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1948	0.82021	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM4B	5084893	1.000000	0.71417	0.079000	0.20413	0.017000	0.09413	5.820000	0.69250	1.858000	0.53909	0.561000	0.74099	.		0.612	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015	Intron	9	37	1	0	3.86212e-05	1	3.99e-05	9	37				
ARHGEF2	9181	broad.mit.edu	37	1	155931566	155931566	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:155931566G>A	ENST00000361247.4	-	11	1453	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R424W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R451W|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R424W|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R453W|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R497W	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	452					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTTGGGCCCGAGGGTCCATG	0.597																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1270-1272)Cgg>Tgg		Rho/Rac guanine nucleotide exchange factor (GEF) 2							66.0	66.0	66.0					1																	155931566		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931566G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1354C>T	1.37:g.155931566G>A	ENSP00000354837:p.Arg452Trp					ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R424W|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R453W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R451W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R452W	p.R424W			Q92974	ARHG2_HUMAN			15	1740	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		452			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1270C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942232	0.73672	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	4.95	4.95	0.65309	Pleckstrin homology-type (1);	0.000000	0.44483	D	0.000448	T	0.65281	0.2676	L	0.47716	1.5	0.40599	D	0.981567	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.973;0.981;0.988	T	0.68712	-0.5336	10	0.87932	D	0	-29.7937	11.0118	0.47667	0.0:0.0:0.8142:0.1858	.	496;452;451	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	W	424;452;453;424;451	ENSP00000315325:R424W;ENSP00000354837:R452W;ENSP00000357298:R453W;ENSP00000357299:R424W;ENSP00000314787:R451W	ENSP00000314787:R451W	R	-	1	2	ARHGEF2	154198190	0.189000	0.23263	0.997000	0.53966	0.993000	0.82548	1.931000	0.40134	2.724000	0.93272	0.655000	0.94253	CGG		0.597	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		20	55	0	0	0	1	0	20	55				
IMPG1	3617	broad.mit.edu	37	6	76744439	76744439	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:76744439A>G	ENST00000369950.3	-	3	556	c.367T>C	c.(367-369)Tat>Cat	p.Y123H	IMPG1_ENST00000369963.3_Missense_Mutation_p.Y45H	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGTCCTGATATTCCCCTGTG	0.493																																					Pancreas(37;839 1141 2599 26037)	ENST00000369963.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(133-135)Tat>Cat		interphotoreceptor matrix proteoglycan 1							107.0	96.0	100.0					6																	76744439		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744439A>G	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.367T>C	6.37:g.76744439A>G	ENSP00000358966:p.Tyr123His					IMPG1_ENST00000369950.3_Missense_Mutation_p.Y123H	p.Y45H			Q17R60	IMPG1_HUMAN			2	322	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	123						Missense_Mutation	SNP	ENST00000369950.3	37	c.133T>C	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916358	0.73098	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;D	0.88664	-1.04;-2.41	5.77	4.57	0.56435	.	0.211286	0.33792	N	0.004557	D	0.83519	0.5272	L	0.60455	1.87	0.54753	D	0.999983	P	0.45594	0.862	P	0.45998	0.5	T	0.82200	-0.0575	9	.	.	.	.	12.0288	0.53386	0.8705:0.0:0.0:0.1295	.	123	Q17R60	IMPG1_HUMAN	H	123;45	ENSP00000358966:Y123H;ENSP00000358980:Y45H	.	Y	-	1	0	IMPG1	76801159	1.000000	0.71417	0.951000	0.38953	0.907000	0.53573	7.122000	0.77169	0.963000	0.38082	0.455000	0.32223	TAT		0.493	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		12	52	0	0	0	1	0	12	52				
KCNC3	3748	broad.mit.edu	37	19	50826952	50826952	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:50826952G>A	ENST00000477616.1	-	2	1552	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.R420C|KCNC3_ENST00000391818.2_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	420			R -> H (in SCA13; loss of channel activity). {ECO:0000269|PubMed:16501573}.		cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.R420C(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CGCAGGATGCGGACGAAGCGG	0.652																																					Melanoma(91;1496 2324 50908)	ENST00000376959.2																			1	Substitution - Missense(1)	p.R420C(1)	large_intestine(1)	endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13						c.(1258-1260)Cgc>Tgc		potassium voltage-gated channel, Shaw-related subfamily, member 3							75.0	74.0	74.0					19																	50826952		2203	4300	6503	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50826952G>A	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1258C>T	19.37:g.50826952G>A	ENSP00000434241:p.Arg420Cys					KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.R420C	p.R420C			Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	2	1421	-		all_neural(266;0.057)|Ovarian(192;0.208)	420		R -> H (in SCA13; loss of channel activity).				Missense_Mutation	SNP	ENST00000477616.1	37	c.1258C>T	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	g	16.33	3.093769	0.56075	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.99652	-6.3;-6.3	3.04	0.622	0.17648	Ion transport (1);	0.000000	0.64402	U	0.000010	D	0.99651	0.9871	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;0.987	D;D	0.97110	1.0;0.965	D	0.99278	1.0895	10	0.54805	T	0.06	.	9.7704	0.40587	0.0:0.0:0.4735:0.5265	.	420;420	Q14003;E7ETH1	KCNC3_HUMAN;.	C	420;420;234	ENSP00000366158:R420C;ENSP00000434241:R420C	ENSP00000366158:R420C	R	-	1	0	KCNC3	55518764	1.000000	0.71417	0.358000	0.25811	0.961000	0.63080	3.477000	0.53151	0.103000	0.17682	0.486000	0.48141	CGC		0.652	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		9	30	0	0	0	1	0	9	30				
ATP8B2	57198	broad.mit.edu	37	1	154303399	154303399	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:154303399C>G	ENST00000368489.3	+	4	298	c.298C>G	c.(298-300)Ctg>Gtg	p.L100V	ATP8B2_ENST00000341822.2_Missense_Mutation_p.L86V|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.L67V	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	86					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCCTCATTCTGCAGGTAGG	0.478																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(298-300)Ctg>Gtg		ATPase, aminophospholipid transporter, class I, type 8B, member 2							71.0	62.0	65.0					1																	154303399		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154303399C>G	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.298C>G	1.37:g.154303399C>G	ENSP00000357475:p.Leu100Val					ATP8B2_ENST00000368487.3_Missense_Mutation_p.L67V|ATP8B2_ENST00000341822.2_Missense_Mutation_p.L86V|ATP8B2_ENST00000426445.1_3'UTR	p.L100V	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	298	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		86					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.298C>G	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902618	0.52227	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	T;T;T	0.61274	0.12;0.12;0.12	4.78	3.82	0.43975	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.093068	0.44688	D	0.000433	T	0.54271	0.1848	L	0.41906	1.305	0.54753	D	0.999985	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.983;0.989	T	0.60801	-0.7191	10	0.87932	D	0	.	7.9025	0.29742	0.0:0.8035:0.0:0.1965	.	86;100;67	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	V	67;100;86	ENSP00000357472:L67V;ENSP00000357475:L100V;ENSP00000340448:L86V	ENSP00000340448:L86V	L	+	1	2	ATP8B2	152570023	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	3.145000	0.50623	1.281000	0.44480	0.561000	0.74099	CTG		0.478	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		5	26	0	0	0	1	0	5	26				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	22	0	0	0	1	0	5	22				
NR1I2	8856	broad.mit.edu	37	3	119526249	119526249	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:119526249A>G	ENST00000337940.4	+	2	317	c.269A>G	c.(268-270)tAt>tGt	p.Y90C	NR1I2_ENST00000393716.2_Missense_Mutation_p.Y51C|NR1I2_ENST00000466380.1_Missense_Mutation_p.Y51C	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	51					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	GCCACTGGCTATCACTTCAAT	0.537																																						ENST00000393716.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23						c.(151-153)tAt>tGt		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						137.0	129.0	132.0					3																	119526249		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119526249A>G	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.269A>G	3.37:g.119526249A>G	ENSP00000336528:p.Tyr90Cys					NR1I2_ENST00000466380.1_Missense_Mutation_p.Y51C|NR1I2_ENST00000337940.4_Missense_Mutation_p.Y90C	p.Y51C	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	2	1991	+			51					Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.152A>G	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436592	0.62955	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.97352	-4.35;-4.35;-4.35	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.99050	1.0827	10	0.87932	D	0	.	12.2035	0.54339	1.0:0.0:0.0:0.0	.	90;74	F1D8P9;O75469-6	.;.	C	51;51;90	ENSP00000377319:Y51C;ENSP00000420297:Y51C;ENSP00000336528:Y90C	ENSP00000336528:Y90C	Y	+	2	0	NR1I2	121008939	0.966000	0.33281	0.993000	0.49108	0.996000	0.88848	1.112000	0.31172	1.760000	0.52011	0.482000	0.46254	TAT		0.537	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			19	92	0	0	0	1	0	19	92				
TAS2R1	50834	broad.mit.edu	37	5	9629959	9629959	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:9629959G>A	ENST00000382492.2	-	1	504	c.186C>T	c.(184-186)atC>atT	p.I62I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	62					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAACGTAGAAGATGAACAACT	0.368																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(184-186)atC>atT		taste receptor, type 2, member 1							43.0	46.0	45.0					5																	9629959		2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629959G>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.186C>T	5.37:g.9629959G>A						CTD-2001E22.1_ENST00000504182.2_RNA	p.I62I	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	504	-			62					Q646G8	Silent	SNP	ENST00000382492.2	37	c.186C>T	CCDS3876.1																																																																																				0.368	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			7	48	0	0	0	1	0	7	48				
SYNC	81493	broad.mit.edu	37	1	33149665	33149665	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:33149665C>T	ENST00000409190.3	-	4	1842	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000373484.3_Intron	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	462	Tail.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCAGCCTGTTCCAGGCTCTTG	0.428																																						ENST00000409190.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1384-1386)Gaa>Aaa		syncoilin, intermediate filament protein							259.0	264.0	262.0					1																	33149665		2203	4300	6503	SO:0001583	missense	81493					intermediate filament|perinuclear region of cytoplasm	structural molecule activity	g.chr1:33149665C>T	AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1384G>A	1.37:g.33149665C>T	ENSP00000386439:p.Glu462Lys					SYNC_ENST00000373484.3_Intron|RBBP4_ENST00000373493.5_3'UTR	p.E462K	NM_030786.2	NP_110413.2	Q9H7C4	SYNCI_HUMAN			4	1842	-			462			Tail.		B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	c.1384G>A	CCDS367.2	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138923	0.56936	.	.	ENSG00000162520	ENST00000409190	D	0.95622	-3.76	5.71	4.79	0.61399	.	0.449095	0.21563	N	0.072540	D	0.90776	0.7104	L	0.27053	0.805	0.80722	D	1	B	0.30793	0.295	B	0.27608	0.081	D	0.88752	0.3251	10	0.39692	T	0.17	-0.1087	13.0668	0.59038	0.0:0.8388:0.1612:0.0	.	462	Q9H7C4	SYNCI_HUMAN	K	462	ENSP00000386439:E462K	ENSP00000386439:E462K	E	-	1	0	SYNC	32922252	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.264000	0.43302	1.549000	0.49425	-0.305000	0.09177	GAA		0.428	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786		48	261	0	0	0	1	0	48	261				
PLAG1	5324	broad.mit.edu	37	8	57079223	57079223	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:57079223A>C	ENST00000316981.3	-	5	1561	c.1082T>G	c.(1081-1083)aTg>aGg	p.M361R	PLAG1_ENST00000423799.2_Missense_Mutation_p.M279R|PLAG1_ENST00000429357.2_Missense_Mutation_p.M361R	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	361	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTGTAACTCCATCAGGTAACT	0.438			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1081-1083)aTg>aGg		pleiomorphic adenoma gene 1							124.0	119.0	121.0					8																	57079223		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079223A>C	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1082T>G	8.37:g.57079223A>C	ENSP00000325546:p.Met361Arg					PLAG1_ENST00000423799.2_Missense_Mutation_p.M279R|PLAG1_ENST00000429357.2_Missense_Mutation_p.M361R	p.M361R	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1561	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	361			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.1082T>G	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	A	9.247	1.039876	0.19669	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12879	2.64;3.36;2.64	5.63	5.63	0.86233	.	0.170124	0.64402	D	0.000005	T	0.13670	0.0331	L	0.43152	1.355	0.53005	D	0.999969	P	0.42827	0.791	B	0.35607	0.206	T	0.01688	-1.1295	10	0.59425	D	0.04	-19.758	15.8414	0.78848	1.0:0.0:0.0:0.0	.	361	Q6DJT9	PLAG1_HUMAN	R	361;279;361	ENSP00000325546:M361R;ENSP00000404067:M279R;ENSP00000416537:M361R	ENSP00000325546:M361R	M	-	2	0	PLAG1	57241777	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.664000	0.68045	2.126000	0.65437	0.383000	0.25322	ATG		0.438	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		31	147	0	0	0	1	0	31	147				
RBM47	54502	broad.mit.edu	37	4	40439899	40439899	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:40439899C>T	ENST00000381793.2	-	3	1408	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	RBM47_ENST00000381795.6_Missense_Mutation_p.E338K|RBM47_ENST00000295971.7_Missense_Mutation_p.E338K|RBM47_ENST00000514014.1_Missense_Mutation_p.E300K|RBM47_ENST00000319592.4_Missense_Mutation_p.E338K|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	338					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						TGCGCTGCCTCAGCCGCGCCG	0.662																																						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.(1012-1014)Gag>Aag		RNA binding motif protein 47							37.0	37.0	37.0					4																	40439899		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40439899C>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.1012G>A	4.37:g.40439899C>T	ENSP00000371212:p.Glu338Lys					RBM47_ENST00000381793.2_Missense_Mutation_p.E338K|RBM47_ENST00000514014.1_Missense_Mutation_p.E300K|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.E338K|RBM47_ENST00000381795.6_Missense_Mutation_p.E338K	p.E338K			A0AV96	RBM47_HUMAN			4	1721	-			338					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.1012G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	6.374	0.437134	0.12104	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.15834	2.44;2.39;2.44;2.39;2.4	5.58	5.58	0.84498	.	0.793165	0.12061	N	0.503134	T	0.14614	0.0353	L	0.40543	1.245	0.34352	D	0.690018	B;B	0.22211	0.066;0.001	B;B	0.21708	0.036;0.004	T	0.09058	-1.0692	10	0.07175	T	0.84	-13.8064	12.8595	0.57906	0.0:0.9255:0.0:0.0745	.	338;338	A0AV96-2;A0AV96	.;RBM47_HUMAN	K	338;338;338;338;300	ENSP00000320108:E338K;ENSP00000371212:E338K;ENSP00000371214:E338K;ENSP00000295971:E338K;ENSP00000423243:E300K	ENSP00000295971:E338K	E	-	1	0	RBM47	40134656	0.982000	0.34865	0.949000	0.38748	0.325000	0.28411	2.975000	0.49281	2.630000	0.89119	0.462000	0.41574	GAG		0.662	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		13	37	0	0	0	1	0	13	37				
CEP135	9662	broad.mit.edu	37	4	56847522	56847522	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:56847522G>A	ENST00000257287.4	+	13	1880	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	586					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGCAGAAAAGGAAGCTTTAAG	0.338																																						ENST00000257287.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(1756-1758)Gaa>Aaa		centrosomal protein 135kDa							100.0	111.0	107.0					4																	56847522		2202	4299	6501	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56847522G>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1756G>A	4.37:g.56847522G>A	ENSP00000257287:p.Glu586Lys						p.E586K	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			13	1880	+	Glioma(25;0.08)|all_neural(26;0.101)		586					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1756G>A	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584840	0.86748	.	.	ENSG00000174799	ENST00000257287	T	0.49432	0.78	4.69	4.69	0.59074	.	0.199430	0.52532	D	0.000076	T	0.64057	0.2564	M	0.72118	2.19	0.50313	D	0.999866	D	0.65815	0.995	D	0.63793	0.918	T	0.60409	-0.7269	10	0.15952	T	0.53	.	17.5666	0.87921	0.0:0.0:1.0:0.0	.	586	Q66GS9	CP135_HUMAN	K	586	ENSP00000257287:E586K	ENSP00000257287:E586K	E	+	1	0	CEP135	56542279	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	5.946000	0.70234	2.318000	0.78349	0.467000	0.42956	GAA		0.338	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		12	95	0	0	0	1	0	12	95				
POLR2B	5431	broad.mit.edu	37	4	57871560	57871560	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:57871560A>G	ENST00000381227.1	+	9	1462	c.1049A>G	c.(1048-1050)cAt>cGt	p.H350R	POLR2B_ENST00000441246.2_Missense_Mutation_p.H343R|POLR2B_ENST00000314595.5_Missense_Mutation_p.H350R|POLR2B_ENST00000431623.2_Missense_Mutation_p.H275R|RNU6-998P_ENST00000515894.1_RNA			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	350					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATGCTCCCTCATGTTGGTGTC	0.333																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1048-1050)cAt>cGt		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							124.0	129.0	127.0					4																	57871560		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57871560A>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1049A>G	4.37:g.57871560A>G	ENSP00000370625:p.His350Arg					POLR2B_ENST00000431623.2_Missense_Mutation_p.H275R|POLR2B_ENST00000441246.2_Missense_Mutation_p.H343R|POLR2B_ENST00000314595.5_Missense_Mutation_p.H350R	p.H350R			P30876	RPB2_HUMAN			9	1462	+	Glioma(25;0.08)|all_neural(26;0.181)		350					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.1049A>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.597887	0.87055	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.77	5.77	0.91146	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88500	0.6453	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92456	0.5974	10	0.87932	D	0	.	16.3818	0.83467	1.0:0.0:0.0:0.0	.	275;350	C9J4M6;P30876	.;RPB2_HUMAN	R	350;275;343;350	ENSP00000370625:H350R;ENSP00000391096:H275R;ENSP00000391452:H343R;ENSP00000312735:H350R	ENSP00000312735:H350R	H	+	2	0	POLR2B	57566317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.316000	0.79007	2.330000	0.79161	0.528000	0.53228	CAT		0.333	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		16	64	0	0	0	1	0	16	64				
DUSP7	1849	broad.mit.edu	37	3	52084899	52084899	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:52084899C>T	ENST00000495880.1	-	3	1375	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	DUSP7_ENST00000296483.6_Missense_Mutation_p.E347K			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	398					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TAGAGCTGCTCACTCGACGCG	0.607																																						ENST00000495880.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(1192-1194)Gag>Aag		dual specificity phosphatase 7							166.0	129.0	141.0					3																	52084899		2203	4300	6503	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor 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|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52084899C>T	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.1192G>A	3.37:g.52084899C>T	ENSP00000417183:p.Glu398Lys					DUSP7_ENST00000296483.6_Missense_Mutation_p.E347K	p.E398K			Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1375	-			398					Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.1192G>A	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	c	13.88	2.369695	0.42003	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	T;T	0.02280	4.36;4.38	5.75	4.87	0.63330	.	0.152588	0.64402	N	0.000018	T	0.01189	0.0039	N	0.01874	-0.695	0.47778	D	0.999514	B	0.28552	0.215	B	0.29353	0.101	T	0.65038	-0.6265	10	0.30854	T	0.27	.	9.26	0.37605	0.1465:0.7808:0.0:0.0727	.	398	Q16829	DUS7_HUMAN	K	398;347	ENSP00000417183:E398K;ENSP00000296483:E347K	ENSP00000296483:E347K	E	-	1	0	DUSP7	52059939	0.995000	0.38212	0.985000	0.45067	0.644000	0.38419	3.365000	0.52335	1.419000	0.47118	-0.195000	0.12781	GAG		0.607	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		7	27	0	0	0	1	0	7	27				
DSP	1832	broad.mit.edu	37	6	7574933	7574933	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:7574933G>C	ENST00000379802.3	+	17	2682	c.2341G>C	c.(2341-2343)Gaa>Caa	p.E781Q	DSP_ENST00000418664.2_Missense_Mutation_p.E781Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	781	Globular 1.				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)		TCTCCAAACAGAAGACATGTT	0.453																																						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.(2341-2343)Gaa>Caa		desmoplakin							128.0	120.0	122.0					6																	7574933		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.chr6:7574933G>C	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.2341G>C	6.37:g.7574933G>C	ENSP00000369129:p.Glu781Gln					DSP_ENST00000418664.2_Missense_Mutation_p.E781Q	p.E781Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	17	2682	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	781			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2341G>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468216	0.84533	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.83837	-1.77;-1.77	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000008	T	0.80391	0.4614	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	P;P	0.53266	0.722;0.722	T	0.81756	-0.0787	10	0.56958	D	0.05	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	828;781	Q4LE79;P15924	.;DESP_HUMAN	Q	781;781;586	ENSP00000369129:E781Q;ENSP00000396591:E781Q	ENSP00000369129:E781Q	E	+	1	0	DSP	7519932	1.000000	0.71417	0.953000	0.39169	0.993000	0.82548	9.855000	0.99526	2.752000	0.94435	0.655000	0.94253	GAA		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		16	54	0	0	0	1	0	16	54				
OTUD4	54726	broad.mit.edu	37	4	146059380	146059380	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:146059380G>A	ENST00000447906.2	-	21	2734	c.2547C>T	c.(2545-2547)ggC>ggT	p.G849G	OTUD4_ENST00000454497.2_Silent_p.G784G|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	849					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TAGGAACTGGGCCTAAGAATG	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2350-2352)ggC>ggT		OTU domain containing 4																																				SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059380G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2547C>T	4.37:g.146059380G>A						OTUD4_ENST00000447906.2_Silent_p.G849G|OTUD4_ENST00000455611.2_Intron	p.G784G	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2489	-	all_hematologic(180;0.151)		848					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2352C>T																																																																																					0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	54	0	0	0	1	0	4	54				
FAM57B	83723	broad.mit.edu	37	16	30038054	30038054	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:30038054C>T	ENST00000380495.4	-	3	1051	c.320G>A	c.(319-321)gGg>gAg	p.G107E	FAM57B_ENST00000279389.4_Missense_Mutation_p.G57E|FAM57B_ENST00000564806.1_Missense_Mutation_p.G57E	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	107	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TCCGTCGTCCCCTCCATGCCC	0.607																																						ENST00000380495.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(319-321)gGg>gAg		family with sequence similarity 57, member B							84.0	66.0	72.0					16																	30038054		2197	4299	6496	SO:0001583	missense	83723					endoplasmic reticulum|integral to membrane		g.chr16:30038054C>T	AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.320G>A	16.37:g.30038054C>T	ENSP00000369863:p.Gly107Glu					FAM57B_ENST00000279389.4_Missense_Mutation_p.G57E|FAM57B_ENST00000564806.1_Missense_Mutation_p.G57E	p.G107E	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN			3	1051	-			107			TLC.		Q9H0J1	Missense_Mutation	SNP	ENST00000380495.4	37	c.320G>A	CCDS10667.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.40|13.40	2.226157|2.226157	0.39300|0.39300	.|.	.|.	ENSG00000149926|ENSG00000149926	ENST00000380495|ENST00000279389	.|.	.|.	.|.	5.72|5.72	3.76|3.76	0.43208|0.43208	TRAM/LAG1/CLN8 homology domain (3);|.	0.373250|0.373250	0.25981|0.25981	N|N	0.027067|0.027067	T|T	0.36663|0.36663	0.0975|0.0975	N|N	0.14661|0.14661	0.345|0.345	0.39301|0.39301	D|D	0.96491|0.96491	B;B|.	0.18461|.	0.028;0.007|.	B;B|.	0.19946|.	0.027;0.006|.	T|T	0.28681|0.28681	-1.0036|-1.0036	9|7	0.25751|0.40728	T|T	0.34|0.16	-8.415|-8.415	5.7089|5.7089	0.17923|0.17923	0.0:0.6254:0.1432:0.2314|0.0:0.6254:0.1432:0.2314	.|.	107;107|.	F1T0F5;Q71RH2|.	.;FA57B_HUMAN|.	E|R	107|74	.|.	ENSP00000369863:G107E|ENSP00000279389:G74R	G|G	-|-	2|1	0|0	FAM57B|FAM57B	29945555|29945555	0.004000|0.004000	0.15560|0.15560	0.994000|0.994000	0.49952|0.49952	0.686000|0.686000	0.39977|0.39977	1.232000|1.232000	0.32636|0.32636	1.421000|1.421000	0.47157|0.47157	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.607	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255142.2	NM_031478		4	36	0	0	0	1	0	4	36				
MYF5	4617	broad.mit.edu	37	12	81110932	81110932	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:81110932C>T	ENST00000228644.3	+	1	242	c.90C>T	c.(88-90)gaC>gaT	p.D30D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	30					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AATTTGGGGACGAGTTTGTGC	0.617																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(88-90)gaC>gaT		myogenic factor 5							48.0	44.0	46.0					12																	81110932		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110932C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.90C>T	12.37:g.81110932C>T							p.D30D	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	242	+			30					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.90C>T	CCDS9020.1																																																																																				0.617	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		10	31	0	0	0	1	0	10	31				
CADPS2	93664	broad.mit.edu	37	7	122000987	122000987	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:122000987G>C	ENST00000449022.2	-	26	3487	c.3468C>G	c.(3466-3468)ttC>ttG	p.F1156L	RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000602199.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.F1115L|CADPS2_ENST00000334010.7_Missense_Mutation_p.F1154L|RP5-1101C3.1_ENST00000602012.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.F1115L|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000482375.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1156					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTTACAGTGAATGACAGAA	0.333																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(3460-3462)ttC>ttG		Ca++-dependent secretion activator 2							109.0	95.0	99.0					7																	122000987		1872	4113	5985	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122000987G>C		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3468C>G	7.37:g.122000987G>C	ENSP00000398481:p.Phe1156Leu					CADPS2_ENST00000313070.7_Missense_Mutation_p.F1115L|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000602012.1_RNA|RP5-1101C3.1_ENST00000602199.1_RNA|RP5-1101C3.1_ENST00000482375.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.F1156L|CADPS2_ENST00000412584.2_Missense_Mutation_p.F1115L	p.F1154L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			24	3883	-			1156					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.3462C>G	CCDS55158.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.48|17.48|17.48	3.400652|3.400652|3.400652	0.62177|0.62177|0.62177	.|.|.	.|.|.	ENSG00000081803|ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721|ENST00000462699	T;T;T;T|.|.	0.28895|.|.	1.59;1.59;1.59;1.59|.|.	5.87|5.87|5.87	4.99|4.99|4.99	0.66335|0.66335|0.66335	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.57932|0.57932|.	0.2087|0.2087|.	L|L|L	0.45422|0.45422|0.45422	1.42|1.42|1.42	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	D;B;D;D|.|.	0.59767|.|.	0.986;0.04;0.986;0.974|.|.	D;B;D;D|.|.	0.70487|.|.	0.968;0.061;0.968;0.969|.|.	T|T|.	0.55186|0.55186|.	-0.8180|-0.8180|.	10|5|.	0.25106|.|.	T|.|.	0.35|.|.	-16.9759|-16.9759|-16.9759	11.7772|11.7772|11.7772	0.51993|0.51993|0.51993	0.1404:0.0:0.8596:0.0|0.1404:0.0:0.8596:0.0|0.1404:0.0:0.8596:0.0	.|.|.	1160;1115;1156;1110|.|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.|.	.;.;CAPS2_HUMAN;.|.|.	L|D|X	329;1115;1154;1161;1082;1115;1156|759|350	ENSP00000325581:F1115L;ENSP00000333940:F1154L;ENSP00000400401:F1115L;ENSP00000398481:F1156L|.|.	ENSP00000325581:F1115L|.|.	F|H|S	-|-|-	3|1|2	2|0|0	CADPS2|CADPS2|CADPS2	121788223|121788223|121788223	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	3.548000|3.548000|3.548000	0.53670|0.53670|0.53670	1.485000|1.485000|1.485000	0.48380|0.48380|0.48380	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	TTC|CAC|TCA		0.333	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		3	17	0	0	0	1	0	3	17				
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	5						6	5	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)gagggc>ggc	p.E711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2131-2136)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299147_46299149delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2132_2134delAGG	19.37:g.46299156_46299158delCCT	ENSP00000221538:p.Glu711del					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del	p.EG711del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2274_2276	-			711			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2132_2134delAGG	CCDS12675.1																																																																																				0.557	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			7	145						7	145	---	---	---	---
FLT3LG	2323	broad.mit.edu	37	19	49982165	49982166	+	Splice_Site	INS	-	-	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:49982165_49982166insC	ENST00000594009.1	+	5	421_422		c.e5-1		CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000204637.2_Splice_Site|FLT3LG_ENST00000597551.1_Splice_Site|FLT3LG_ENST00000600429.1_Splice_Site|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000344019.3_Splice_Site|FLT3LG_ENST00000595510.1_Splice_Site|FLT3LG_ENST00000596435.1_Intron	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand						embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020)	receptor binding (GO:0005102)	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGCTCCCAGCCCCCCCCCAG	0.688																																						ENST00000595510.1																			1	Deletion - Frameshift(1)	p.S118fs*24(1)	upper_aerodigestive_tract(1)	large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.e5-1		fms-related tyrosine kinase 3 ligand																																				SO:0001630	splice_region_variant	2323				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49982165_49982166insC	U04806	CCDS12767.1, CCDS62753.1	19q13.3	2014-01-30				ENSG00000090554		"""Endogenous ligands"""	3766	protein-coding gene	gene with protein product		600007				8145851, 7824267	Standard	NM_001204502		Approved		uc010yau.2	P49771		ENST00000594009.1:c.343-1->C	19.37:g.49982174_49982174dupC						FLT3LG_ENST00000595815.1_Splice_Site|FLT3LG_ENST00000594009.1_Splice_Site|FLT3LG_ENST00000600429.1_Splice_Site|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000597551.1_Splice_Site|FLT3LG_ENST00000204637.2_Splice_Site|FLT3LG_ENST00000344019.3_Splice_Site|FLT3LG_ENST00000596435.1_Intron				P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	5	397_398	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)						A0AVC2|B9EGH2|Q05C96	Splice_Site	INS	ENST00000594009.1	37		CCDS12767.1																																																																																				0.688	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1		Intron	2	4						2	4	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs572936881|rs34890218|rs373314940|rs71194738	byFrequency	TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)caa>caGCAa	p.533_533Q>QQ		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""									447	0.0892572	0.0393	0.1196	5008	,	,		12327	0.0774		0.1789	False		,,,				2504	0.0552					ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1597-1599)cca>cGCAca		meningioma (disrupted in balanced translocation) 1																																				SO:0001652	inframe_insertion	4330						binding	g.chr22:28194933_28194934insTGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596_1598dupGCA	22.37:g.28194940_28194942dupTGC	ENSP00000304956:p.Gln550dup						p.533_533P>RT	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2552_2553	-			533			Poly-Gln.		A9Z1V9	In_Frame_Ins	INS	ENST00000302326.4	37	c.1598_1599insGCA	CCDS42998.1																																																																																				0.653	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		6	11						6	11	---	---	---	---
