#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
MXRA5	25878	broad.mit.edu	37	X	3248147	3248147	+	Silent	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:3248147C>T	ENST00000217939.6	-	4	775	c.621G>A	c.(619-621)ccG>ccA	p.P207P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	207						extracellular vesicular exosome (GO:0070062)		p.P207P(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCCAGAAGCGGCATGTTCC	0.453																																						ENST00000217939.6																			2	Substitution - coding silent(2)	p.P207P(2)	large_intestine(2)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(619-621)ccG>ccA		matrix-remodelling associated 5							68.0	59.0	62.0					X																	3248147		2202	4300	6502	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3248147C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.621G>A	X.37:g.3248147C>T							p.P207P	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			4	775	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	207					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.621G>A	CCDS14124.1																																																																																				0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		6	16	0	0	0	1	0	6	16				
MUC4	4585	broad.mit.edu	37	3	195484133	195484133	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:195484133C>G	ENST00000346145.4	-	17	2384	c.2345G>C	c.(2344-2346)aGt>aCt	p.S782T	MUC4_ENST00000349607.4_Missense_Mutation_p.S731T|MUC4_ENST00000475231.1_Missense_Mutation_p.S4966T|MUC4_ENST00000463781.3_Missense_Mutation_p.S5018T	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1775					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AATCTTGGCACTTCTTGCTAG	0.552																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(15052-15054)aGt>aCt		mucin 4, cell surface associated							106.0	95.0	99.0					3																	195484133		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195484133C>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2345G>C	3.37:g.195484133C>G	ENSP00000304207:p.Ser782Thr					MUC4_ENST00000349607.4_Missense_Mutation_p.S731T|MUC4_ENST00000475231.1_Missense_Mutation_p.S4966T|MUC4_ENST00000346145.4_Missense_Mutation_p.S782T	p.S5018T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	18	15512	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1775					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.15053G>C	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	1.801	-0.477196	0.04414	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38401	1.14;1.5;1.4;1.44	5.01	-1.76	0.08006	.	0.861709	0.10026	N	0.725417	T	0.36524	0.0970	L	0.50333	1.59	0.09310	N	1	P;P;P;B;B;P	0.48089	0.826;0.646;0.646;0.118;0.118;0.905	B;B;B;B;B;P	0.47645	0.34;0.164;0.164;0.054;0.054;0.553	T	0.36529	-0.9744	10	0.59425	D	0.04	-3.0547	9.4176	0.38530	0.0:0.4955:0.0:0.5045	.	4890;731;782;5018;4966;1723	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	T	731;782;5018;4966;1518	ENSP00000338109:S731T;ENSP00000304207:S782T;ENSP00000417498:S5018T;ENSP00000420243:S4966T	ENSP00000304207:S782T	S	-	2	0	MUC4	196969804	0.000000	0.05858	0.001000	0.08648	0.090000	0.18270	0.398000	0.20899	-0.280000	0.09154	-0.265000	0.10407	AGT		0.552	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		32	55	0	0	0	1	0	32	55				
ANKRD20A11P	391267	broad.mit.edu	37	21	15352091	15352091	+	RNA	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr21:15352091G>A	ENST00000344693.5	-	0	667					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TCTCCGCGGCGTCGCCCTTGA	0.667																																						ENST00000344693.5																			0																																																			0							g.chr21:15352091G>A			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15352091G>A								NR_027270.1						0	667	-									RNA	SNP	ENST00000344693.5	37																																																																																						0.667	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			6	20	0	0	0	1	0	6	20				
SZT2	23334	broad.mit.edu	37	1	43896293	43896293	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:43896293C>G	ENST00000562955.1	+	31	4436	c.4436C>G	c.(4435-4437)aCt>aGt	p.T1479S	SZT2_ENST00000372442.1_Missense_Mutation_p.T637S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1536					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACGTAGACACTGTGAATCCT	0.577																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4435-4437)aCt>aGt		seizure threshold 2 homolog (mouse)							108.0	110.0	110.0					1																	43896293		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43896293C>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4436C>G	1.37:g.43896293C>G	ENSP00000457168:p.Thr1479Ser					SZT2_ENST00000372442.1_Missense_Mutation_p.T637S	p.T1479S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			31	4436	+			1536					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4436C>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733840	0.69189	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.72803	0.3506	L	0.46157	1.445	0.35158	D	0.770355	D	0.89917	1.0	D	0.83275	0.996	T	0.78280	-0.2265	9	0.87932	D	0	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	1479	Q5T011-5	.	S	637	.	ENSP00000361519:T637S	T	+	2	0	SZT2	43668880	1.000000	0.71417	0.996000	0.52242	0.786000	0.44442	7.350000	0.79385	2.733000	0.93635	0.655000	0.94253	ACT		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		44	81	0	0	0	1	0	44	81				
PNMA3	29944	broad.mit.edu	37	X	152225469	152225469	+	Missense_Mutation	SNP	G	G	T	rs202140456		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:152225469G>T	ENST00000370264.4	+	1	83	c.57G>T	c.(55-57)agG>agT	p.R19S	PNMA3_ENST00000447306.1_Missense_Mutation_p.R19S|PNMA3_ENST00000370265.4_Missense_Mutation_p.R19S			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	19					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					acacccggaggtgcatgctca	0.577																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(55-57)agG>agT		paraneoplastic Ma antigen 3							107.0	88.0	95.0					X																	152225469		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152225469G>T	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.57G>T	X.37:g.152225469G>T	ENSP00000359286:p.Arg19Ser					PNMA3_ENST00000370265.4_Missense_Mutation_p.R19S|PNMA3_ENST00000370264.4_Missense_Mutation_p.R19S	p.R19S	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	393	+	Acute lymphoblastic leukemia(192;6.56e-05)		19					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.57G>T	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	14.67	2.604317	0.46423	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.16073	2.37;2.37;2.37	1.93	0.0798	0.14418	.	.	.	.	.	T	0.30727	0.0774	M	0.69523	2.12	0.09310	N	1	D	0.55172	0.97	P	0.61397	0.888	T	0.12041	-1.0563	9	0.72032	D	0.01	.	4.1184	0.10094	0.4136:0.0:0.5864:0.0	.	19	Q9UL41	PNMA3_HUMAN	S	19	ENSP00000359288:R19S;ENSP00000407642:R19S;ENSP00000359286:R19S	ENSP00000359286:R19S	R	+	3	2	PNMA3	151976125	0.002000	0.14202	0.001000	0.08648	0.100000	0.18952	0.739000	0.26173	-0.075000	0.12798	-0.467000	0.05162	AGG		0.577	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		38	61	1	0	3.3946e-10	1	3.49543e-10	38	61				
TRRAP	8295	broad.mit.edu	37	7	98497312	98497312	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:98497312T>C	ENST00000359863.4	+	10	931	c.722T>C	c.(721-723)cTg>cCg	p.L241P	TRRAP_ENST00000446306.3_Missense_Mutation_p.L241P|TRRAP_ENST00000355540.3_Missense_Mutation_p.L241P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	241					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTACAAACTGAACATCCAC	0.443																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(721-723)cTg>cCg		transformation/transcription domain-associated protein							190.0	159.0	169.0					7																	98497312		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98497312T>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.722T>C	7.37:g.98497312T>C	ENSP00000352925:p.Leu241Pro					TRRAP_ENST00000355540.3_Missense_Mutation_p.L241P|TRRAP_ENST00000446306.3_Missense_Mutation_p.L241P	p.L241P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		10	931	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		241					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.722T>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.613720	0.46631	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02737	4.18;4.18	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.01558	0.0050	N	0.01874	-0.695	0.80722	D	1	P;P	0.40476	0.718;0.596	B;B	0.37888	0.26;0.133	T	0.72754	-0.4198	10	0.26408	T	0.33	.	14.2724	0.66159	0.0:0.0:0.0:1.0	.	241;241	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	P	241	ENSP00000352925:L241P;ENSP00000347733:L241P	ENSP00000347733:L241P	L	+	2	0	TRRAP	98335248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.670000	0.68088	2.179000	0.69175	0.460000	0.39030	CTG		0.443	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	156	0	0	0	1	0	4	156				
FLG	2312	broad.mit.edu	37	1	152285924	152285924	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:152285924A>G	ENST00000368799.1	-	3	1473	c.1438T>C	c.(1438-1440)Tct>Cct	p.S480P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	480	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGGGCAGAGTCAGGCTGT	0.612									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1438-1440)Tct>Cct		filaggrin							221.0	212.0	215.0					1																	152285924		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285924A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1438T>C	1.37:g.152285924A>G	ENSP00000357789:p.Ser480Pro					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S480P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1473	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		480			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1438T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	10.90	1.480469	0.26598	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00630	6.1	3.33	-0.847	0.10730	.	.	.	.	.	T	0.00998	0.0033	M	0.82923	2.615	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.45454	-0.9260	9	0.54805	T	0.06	.	4.1424	0.10200	0.4614:0.4113:0.1273:0.0	.	480	P20930	FILA_HUMAN	P	480;12	ENSP00000357789:S480P	ENSP00000357789:S480P	S	-	1	0	FLG	150552548	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.088000	0.11198	-0.260000	0.09418	0.414000	0.27820	TCT		0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		84	153	0	0	0	1	0	84	153				
RGN	9104	broad.mit.edu	37	X	46949264	46949264	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:46949264T>C	ENST00000352078.4	+	4	781	c.436T>C	c.(436-438)Tac>Cac	p.Y146H	RGN_ENST00000457380.1_Intron|RGN_ENST00000336169.3_Missense_Mutation_p.Y146H|RGN_ENST00000397180.1_Missense_Mutation_p.Y146H|RNU6-1189P_ENST00000383958.1_RNA	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	146					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						CGTGAAAAAGTACTTTGACCA	0.498																																						ENST00000397180.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(436-438)Tac>Cac		regucalcin							125.0	100.0	108.0					X																	46949264		2203	4300	6503	SO:0001583	missense	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46949264T>C	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.436T>C	X.37:g.46949264T>C	ENSP00000253303:p.Tyr146His					RGN_ENST00000457380.1_Intron|RGN_ENST00000336169.3_Missense_Mutation_p.Y146H|RGN_ENST00000352078.4_Missense_Mutation_p.Y146H	p.Y146H	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN			5	1405	+			146					A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	c.436T>C	CCDS14272.1	.	.	.	.	.	.	.	.	.	.	T	3.902	-0.021755	0.07634	.	.	ENSG00000130988	ENST00000397180;ENST00000352078;ENST00000336169	T;T;T	0.29917	1.55;1.55;1.55	5.5	1.78	0.24846	SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1);	0.313337	0.33854	N	0.004496	T	0.04998	0.0134	N	0.00112	-2.095	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.11494	-1.0585	10	0.15499	T	0.54	-13.2225	3.5925	0.07994	0.0:0.4009:0.2119:0.3873	.	146	Q15493	RGN_HUMAN	H	146	ENSP00000380365:Y146H;ENSP00000253303:Y146H;ENSP00000338400:Y146H	ENSP00000338400:Y146H	Y	+	1	0	RGN	46834208	1.000000	0.71417	0.997000	0.53966	0.907000	0.53573	3.116000	0.50399	0.226000	0.20979	0.481000	0.45027	TAC		0.498	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683		14	85	0	0	0	1	0	14	85				
PCDHA7	56141	broad.mit.edu	37	5	140215035	140215035	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:140215035C>G	ENST00000525929.1	+	1	1067	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S356C|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	356	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCCCTGTCTCTCCCTATT	0.502																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1066-1068)tCt>tGt									174.0	154.0	161.0					5																	140215035		2203	4299	6502	SO:0001583	missense	0							g.chr5:140215035C>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1067C>G	5.37:g.140215035C>G	ENSP00000436426:p.Ser356Cys					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S356C|PCDHA5_ENST00000529859.1_Intron	p.S356C	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1067	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1067C>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	8.447	0.852125	0.17034	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.02709	4.19;4.19	4.04	1.08	0.20341	Cadherin (2);Cadherin-like (1);	0.327925	0.16309	U	0.220089	T	0.16085	0.0387	M	0.91612	3.225	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.71414	0.964;0.973	T	0.02639	-1.1130	10	0.72032	D	0.01	.	9.0365	0.36291	0.0:0.6454:0.2757:0.079	.	356;356	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	C	356	ENSP00000436426:S356C;ENSP00000367365:S356C	ENSP00000367365:S356C	S	+	2	0	PCDHA7	140195219	0.000000	0.05858	0.001000	0.08648	0.248000	0.25809	1.228000	0.32588	-0.024000	0.13941	-0.698000	0.03680	TCT		0.502	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		45	73	0	0	0	1	0	45	73				
KCNG2	26251	broad.mit.edu	37	18	77624229	77624229	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:77624229G>C	ENST00000316249.3	+	1	562	c.562G>C	c.(562-564)Gcc>Ccc	p.A188P		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	188					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTCCTTCGTGGCCGTCACGGC	0.771																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(562-564)Gcc>Ccc		potassium voltage-gated channel, subfamily G, member 2							18.0	17.0	17.0					18																	77624229		2006	3993	5999	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77624229G>C	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.562G>C	18.37:g.77624229G>C	ENSP00000315654:p.Ala188Pro						p.A188P	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	1	562	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	188						Missense_Mutation	SNP	ENST00000316249.3	37	c.562G>C	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171200	0.57584	.	.	ENSG00000178342	ENST00000316249	D	0.97529	-4.42	4.13	4.13	0.48395	.	0.000000	0.85682	U	0.000000	D	0.96231	0.8771	M	0.75615	2.305	0.51767	D	0.999934	B	0.29085	0.232	B	0.29598	0.104	D	0.96249	0.9182	10	0.72032	D	0.01	.	16.4051	0.83656	0.0:0.0:1.0:0.0	.	188	Q9UJ96	KCNG2_HUMAN	P	188	ENSP00000315654:A188P	ENSP00000315654:A188P	A	+	1	0	KCNG2	75725217	0.999000	0.42202	0.919000	0.36401	0.952000	0.60782	2.560000	0.45896	1.859000	0.53934	0.484000	0.47621	GCC		0.771	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		7	14	0	0	0	1	0	7	14				
PIK3R1	5295	broad.mit.edu	37	5	67591247	67591247	+	Splice_Site	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:67591247G>C	ENST00000521381.1	+	14	2361		c.e14-1		PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CTGTTTTTCAGGTGGTTGACT	0.363			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		6	Unknown(4)|Whole gene deletion(1)|Deletion - Frameshift(1)	p.?(4)|p.Y580fs*1(1)|p.0?(1)	central_nervous_system(2)|large_intestine(1)|lung(1)|ovary(1)|breast(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.e14-1		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						150.0	149.0	150.0					5																	67591247		2203	4300	6503	SO:0001630	splice_region_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591247G>C	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1746-1G>C	5.37:g.67591247G>C		TCGA GBM(4;<1E-08)				PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site|PIK3R1_ENST00000336483.5_Splice_Site		NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2361	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)						B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Splice_Site	SNP	ENST00000521381.1	37		CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187294	0.78789	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1605	0.89706	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3R1	67627003	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.620000	0.98373	2.515000	0.84797	0.460000	0.39030	.		0.363	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	Intron	22	47	0	0	0	1	0	22	47				
BAK1	578	broad.mit.edu	37	6	33543653	33543653	+	Silent	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:33543653G>A	ENST00000374467.3	-	3	371	c.123C>T	c.(121-123)taC>taT	p.Y41Y	BAK1_ENST00000360661.5_Silent_p.Y41Y|BAK1_ENST00000442998.2_Silent_p.Y41Y	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	41					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCTGATGGCGGTAAAAAACGT	0.597																																						ENST00000374467.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(121-123)taC>taT		BCL2-antagonist/killer 1							89.0	80.0	83.0					6																	33543653		2203	4300	6503	SO:0001819	synonymous_variant	578				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	g.chr6:33543653G>A	U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.123C>T	6.37:g.33543653G>A						BAK1_ENST00000360661.5_Silent_p.Y41Y|BAK1_ENST00000442998.2_Silent_p.Y41Y	p.Y41Y	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN			3	371	-			41					C0H5Y7|Q6I9T6|Q92533	Silent	SNP	ENST00000374467.3	37	c.123C>T	CCDS4781.1																																																																																				0.597	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040202.1	NM_001188		3	60	0	0	0	1	0	3	60				
DDX10	1662	broad.mit.edu	37	11	108577517	108577517	+	Silent	SNP	T	T	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr11:108577517T>A	ENST00000322536.3	+	10	1404	c.1275T>A	c.(1273-1275)gcT>gcA	p.A425A	DDX10_ENST00000526794.1_Silent_p.A425A	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	425	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CAGAAAAAGCTATGGTGCAGC	0.358			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(1273-1275)gcT>gcA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							204.0	203.0	203.0					11																	108577517		2201	4298	6499	SO:0001819	synonymous_variant	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108577517T>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1275T>A	11.37:g.108577517T>A						DDX10_ENST00000322536.3_Silent_p.A425A	p.A425A			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	10	1307	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	425			Helicase C-terminal.		B2RCQ3|Q5BJD8	Silent	SNP	ENST00000322536.3	37	c.1275T>A	CCDS8342.1																																																																																				0.358	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		81	119	0	0	0	1	0	81	119				
HLA-DOB	3112	broad.mit.edu	37	6	32782245	32782245	+	Silent	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:32782245T>C	ENST00000438763.2	-	3	591	c.495A>G	c.(493-495)agA>agG	p.R165R	TAP2_ENST00000452392.2_Silent_p.R772R	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	165	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						TGACCCCAGCTCTCTCCTCCT	0.522																																						ENST00000452392.2																			0											c.(2314-2316)agA>agG		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							221.0	189.0	201.0					6																	32782245		1511	2709	4220	SO:0001819	synonymous_variant	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32782245T>C		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.495A>G	6.37:g.32782245T>C						HLA-DOB_ENST00000438763.2_Silent_p.R165R	p.R772R			Q03519	TAP2_HUMAN			14	2489	-			0					B0V0Y0|Q29746|Q29825|Q6FHC2	Silent	SNP	ENST00000438763.2	37	c.2316A>G	CCDS4754.1	.	.	.	.	.	.	.	.	.	.	T	4.396	0.073207	0.08485	.	.	ENSG00000241106	ENST00000447394	.	.	.	3.96	-3.41	0.04839	.	.	.	.	.	T	0.08447	0.0210	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36335	-0.9752	4	.	.	.	.	5.5332	0.16997	0.1449:0.448:0.0:0.4071	.	.	.	.	G	149	.	.	S	-	1	0	HLA-DOB	32890223	0.000000	0.05858	0.001000	0.08648	0.699000	0.40488	-0.738000	0.04871	-0.660000	0.05352	0.523000	0.50628	AGC		0.522	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120		14	132	0	0	0	1	0	14	132				
XXYLT1	152002	broad.mit.edu	37	3	194790669	194790669	+	Silent	SNP	G	G	A	rs371006409		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:194790669G>A	ENST00000310380.6	-	4	1065	c.957C>T	c.(955-957)gcC>gcT	p.A319A	XXYLT1_ENST00000437101.1_Silent_p.A116A|XXYLT1_ENST00000356740.5_Silent_p.A113A|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000429994.1_Silent_p.A173A|XXYLT1_ENST00000355729.4_Silent_p.A116A	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	319						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GGTACTTGTCGGCCAGCTGCT	0.642																																						ENST00000310380.6																			0											c.(955-957)gcC>gcT		xyloside xylosyltransferase 1		G		1,4023		0,1,2011	39.0	45.0	43.0		957	-10.0	0.1	3		43	0,8334		0,0,4167	no	coding-synonymous	C3orf21	NM_152531.4		0,1,6178	AA,AG,GG		0.0,0.0249,0.0081		319/394	194790669	1,12357	2012	4167	6179	SO:0001819	synonymous_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790669G>A	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.957C>T	3.37:g.194790669G>A						XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Silent_p.A116A|XXYLT1_ENST00000356740.5_Silent_p.A113A|XXYLT1_ENST00000429994.1_Silent_p.A173A|XXYLT1_ENST00000355729.4_Silent_p.A116A	p.A319A	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	1065	-			319					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	c.957C>T	CCDS43188.1																																																																																				0.642	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		21	30	0	0	0	1	0	21	30				
TUBGCP2	10844	broad.mit.edu	37	10	135106174	135106174	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:135106174C>G	ENST00000252936.3	-	7	1082	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A	TUBGCP2_ENST00000368563.2_Missense_Mutation_p.G348A|TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G218A|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G376A			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	348					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AAGACATTCGCCTTTGTCCAC	0.622																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1042-1044)gGc>gCc		tubulin, gamma complex associated protein 2							74.0	69.0	71.0					10																	135106174		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106174C>G	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1043G>C	10.37:g.135106174C>G	ENSP00000252936:p.Gly348Ala					TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G376A|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.G348A|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G218A	p.G348A	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	8	1399	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	348					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.1043G>C	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387503	0.42308	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000543663	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	4.87	4.87	0.63330	.	0.051419	0.85682	D	0.000000	T	0.11239	0.0274	L	0.46885	1.475	0.80722	D	1	B;B;B	0.29508	0.178;0.213;0.246	B;B;B	0.37091	0.108;0.173;0.241	T	0.12967	-1.0527	10	0.10636	T	0.68	-34.2476	16.9761	0.86313	0.0:1.0:0.0:0.0	.	376;376;348	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	A	348;218;348;376	ENSP00000252936:G348A;ENSP00000395666:G218A;ENSP00000357551:G348A;ENSP00000446093:G376A	ENSP00000252936:G348A	G	-	2	0	TUBGCP2	134956164	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	7.509000	0.81698	2.426000	0.82243	0.484000	0.47621	GGC		0.622	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			8	14	0	0	0	1	0	8	14				
GTF2IRD1	9569	broad.mit.edu	37	7	73927216	73927216	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:73927216G>C	ENST00000265755.3	+	3	573	c.180G>C	c.(178-180)gaG>gaC	p.E60D	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E60D	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	60					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCACGATGAGAGCGCCTTTG	0.607																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(178-180)gaG>gaC		GTF2I repeat domain containing 1							103.0	88.0	93.0					7																	73927216		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73927216G>C	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.180G>C	7.37:g.73927216G>C	ENSP00000265755:p.Glu60Asp					GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E60D	p.E60D			Q9UHL9	GT2D1_HUMAN			3	1871	+			60					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.180G>C	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878249	0.33162	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.31510	1.49;1.51;1.49;1.49	4.72	1.75	0.24633	.	0.118515	0.56097	D	0.000028	T	0.18383	0.0441	L	0.29908	0.895	0.40833	D	0.9836	B;B;B;B	0.16166	0.001;0.001;0.009;0.016	B;B;B;B	0.20577	0.001;0.002;0.011;0.03	T	0.08513	-1.0718	10	0.24483	T	0.36	-12.9394	6.1543	0.20328	0.1627:0.2725:0.5648:0.0	.	60;60;60;60	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	D	60	ENSP00000265755:E60D;ENSP00000397566:E60D;ENSP00000408477:E60D;ENSP00000418383:E60D	ENSP00000265755:E60D	E	+	3	2	GTF2IRD1	73565152	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	1.034000	0.30204	0.124000	0.18369	0.650000	0.86243	GAG		0.607	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		15	45	0	0	0	1	0	15	45				
CRELD2	79174	broad.mit.edu	37	22	50320925	50320925	+	Silent	SNP	G	G	A	rs143871729		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr22:50320925G>A	ENST00000328268.4	+	10	1106	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	CRELD2_ENST00000404488.3_Silent_p.P393P|CRELD2_ENST00000407217.3_Silent_p.P312P|CRELD2_ENST00000403427.3_Silent_p.P316P	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	344						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAAAGCCCGACACAGCTGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		14606	0.0		0.0	False		,,,				2504	0.001					ENST00000404488.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.(1177-1179)ccG>ccA		cysteine-rich with EGF-like domains 2		G	,	3,4403	6.2+/-15.9	0,3,2200	136.0	140.0	139.0		1179,1032	-7.6	0.0	22	dbSNP_134	139	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	CRELD2	NM_001135101.1,NM_024324.3	,	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	,	393/403,344/354	50320925	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50320925G>A	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.1032G>A	22.37:g.50320925G>A						CRELD2_ENST00000407217.3_Silent_p.P312P|CRELD2_ENST00000328268.4_Silent_p.P344P|CRELD2_ENST00000403427.3_Silent_p.P316P	p.P393P	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	11	1314	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	344					A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	ENST00000328268.4	37	c.1179G>A	CCDS14082.1																																																																																				0.552	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		15	71	0	0	0	1	0	15	71				
ACE	1636	broad.mit.edu	37	17	61560492	61560492	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:61560492G>A	ENST00000290866.4	+	9	1469	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	ACE_ENST00000290863.6_5'Flank|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000538928.1_Intron|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000584529.1_Intron|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.R482H	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	482	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTTAGTGGGCGTACCCCCCCT	0.552																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1444-1446)cGt>cAt		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						127.0	136.0	133.0					17																	61560492		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560492G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1445G>A	17.37:g.61560492G>A	ENSP00000290866:p.Arg482His					ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Missense_Mutation_p.R482H	p.R482H	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			9	1469	+			482			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1445G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	6.325	0.428020	0.11987	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.33654	1.4;1.4	4.87	-0.844	0.10741	.	0.317473	0.31963	N	0.006785	T	0.22437	0.0541	L	0.49571	1.57	0.09310	N	1	B;B	0.32573	0.011;0.376	B;B	0.11329	0.001;0.006	T	0.10753	-1.0616	10	0.52906	T	0.07	-2.4434	5.7134	0.17946	0.2786:0.0:0.5968:0.1245	.	482;482	P12821-2;P12821	.;ACE_HUMAN	H	482	ENSP00000290866:R482H;ENSP00000397593:R482H	ENSP00000290866:R482H	R	+	2	0	ACE	58914224	0.000000	0.05858	0.021000	0.16686	0.005000	0.04900	0.532000	0.23067	0.027000	0.15297	-0.258000	0.10820	CGT		0.552	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	172	0	0	0	1	0	7	172				
ANAPC11	51529	broad.mit.edu	37	17	79857259	79857259	+	Intron	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:79857259C>G	ENST00000575195.2	+	2	289				ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000572639.1_Intron|NPB_ENST00000573081.1_5'Flank|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000571024.2_Intron|NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000357385.3_Missense_Mutation_p.S84C|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000572851.2_Intron			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCCCTGATGTCTAGGGAAGAG	0.607																																						ENST00000357385.3																			0				kidney(1)|lung(1)	2						c.(250-252)tCt>tGt		anaphase promoting complex subunit 11							92.0	77.0	82.0					17																	79857259		2203	4300	6503	SO:0001627	intron_variant	51529				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding	g.chr17:79857259C>G	AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"""Anaphase promoting complex subunits"""	14452	protein-coding gene	gene with protein product		614534	"""anaphase promoting complex subunit 11 (yeast APC11 homolog)"""			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.110-537C>G	17.37:g.79857259C>G						ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000577747.1_Intron	p.S84C	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	387	+	all_neural(118;0.0878)|Ovarian(332;0.12)		0					A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Missense_Mutation	SNP	ENST00000575195.2	37	c.251C>G	CCDS11789.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620915	0.28889	.	.	ENSG00000141552	ENST00000357385	.	.	.	1.93	0.91	0.19337	.	.	.	.	.	T	0.38401	0.1039	.	.	.	0.09310	N	0.999999	P	0.50819	0.939	P	0.50192	0.634	T	0.21280	-1.0250	7	0.72032	D	0.01	.	5.5331	0.16995	0.327:0.673:0.0:0.0	.	84	Q9NYG5-2	.	C	84	.	ENSP00000349957:S84C	S	+	2	0	ANAPC11	77450551	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.515000	0.22801	0.373000	0.24621	-0.521000	0.04368	TCT		0.607	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440106.2	NM_016476		14	21	0	0	0	1	0	14	21				
IL16	3603	broad.mit.edu	37	15	81518014	81518014	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:81518014G>A	ENST00000302987.4	+	1	274	c.274G>A	c.(274-276)Gat>Aat	p.D92N	IL16_ENST00000394660.2_Missense_Mutation_p.D92N			Q14005	IL16_HUMAN	interleukin 16	92					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGCTGGGAATGATCGAGGCAA	0.542																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(274-276)Gat>Aat		interleukin 16							35.0	35.0	35.0					15																	81518014		2004	4162	6166	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81518014G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.274G>A	15.37:g.81518014G>A	ENSP00000302935:p.Asp92Asn					IL16_ENST00000302987.4_Missense_Mutation_p.D92N	p.D92N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			2	634	+			92					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.274G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758516	0.49468	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.16073	2.37;2.37	4.18	4.18	0.49190	.	0.000000	0.39544	N	0.001321	T	0.40119	0.1104	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.72338	0.888;0.977	T	0.30736	-0.9968	10	0.51188	T	0.08	.	16.6985	0.85342	0.0:0.0:1.0:0.0	.	92;92	Q14005;Q14005-2	IL16_HUMAN;.	N	92;134;92;92	ENSP00000378155:D92N;ENSP00000302935:D92N	ENSP00000302935:D92N	D	+	1	0	IL16	79305069	0.997000	0.39634	0.308000	0.25141	0.024000	0.10985	4.346000	0.59367	2.155000	0.67459	0.563000	0.77884	GAT		0.542	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		6	23	0	0	0	1	0	6	23				
KRT1	3848	broad.mit.edu	37	12	53073597	53073597	+	Missense_Mutation	SNP	C	C	G	rs59044845		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:53073597C>G	ENST00000252244.3	-	1	594	c.536G>C	c.(535-537)cGa>cCa	p.R179P		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTCCCTTTCTCGAGACTTCAC	0.502																																						ENST00000252244.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39	GRCh37	CM960908	KRT1	M	rs59044845	c.(535-537)cGa>cCa		keratin 1							253.0	235.0	241.0					12																	53073597		2203	4300	6503	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53073597C>G	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.536G>C	12.37:g.53073597C>G	ENSP00000252244:p.Arg179Pro						p.R179P	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			1	594	-			179		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).	Head.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.536G>C	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162697	0.57368	.	.	ENSG00000167768	ENST00000252244	D	0.89050	-2.46	4.61	-2.5	0.06384	.	.	.	.	.	D	0.89887	0.6845	L	0.39898	1.24	0.28180	N	0.928221	D	0.60575	0.988	D	0.71184	0.972	T	0.83281	-0.0038	9	0.87932	D	0	.	10.5935	0.45323	0.0:0.4166:0.0:0.5834	rs59044845	179	P04264	K2C1_HUMAN	P	179	ENSP00000252244:R179P	ENSP00000252244:R179P	R	-	2	0	KRT1	51359864	0.273000	0.24181	0.882000	0.34594	0.922000	0.55478	0.630000	0.24553	-0.335000	0.08451	-0.404000	0.06349	CGA		0.502	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		50	86	0	0	0	1	0	50	86				
GPRASP1	9737	broad.mit.edu	37	X	101912628	101912628	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:101912628C>T	ENST00000361600.5	+	5	4588	c.3787C>T	c.(3787-3789)Cat>Tat	p.H1263Y	GPRASP1_ENST00000444152.1_Missense_Mutation_p.H1263Y|GPRASP1_ENST00000537097.1_Missense_Mutation_p.H1263Y|GPRASP1_ENST00000415986.1_Missense_Mutation_p.H1263Y|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1263	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GATGATTAGACATCTCACTAC	0.403																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3787-3789)Cat>Tat		G protein-coupled receptor associated sorting protein 1							108.0	88.0	95.0					X																	101912628		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912628C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3787C>T	X.37:g.101912628C>T	ENSP00000355146:p.His1263Tyr					RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.H1263Y|GPRASP1_ENST00000444152.1_Missense_Mutation_p.H1263Y|GPRASP1_ENST00000415986.1_Missense_Mutation_p.H1263Y	p.H1263Y	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4600	+			1263			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3787C>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	0.161	-1.080759	0.01888	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	2.9	-0.0593	0.13794	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.28830	0.0715	M	0.69823	2.125	0.09310	N	1	B	0.19331	0.035	B	0.22152	0.038	T	0.39781	-0.9597	9	0.87932	D	0	-0.8432	3.0419	0.06141	0.0:0.4711:0.2302:0.2986	.	1263	Q5JY77	GASP1_HUMAN	Y	1263	ENSP00000393691:H1263Y;ENSP00000409420:H1263Y;ENSP00000355146:H1263Y;ENSP00000445683:H1263Y	ENSP00000355146:H1263Y	H	+	1	0	GPRASP1	101799284	0.893000	0.30496	0.012000	0.15200	0.343000	0.28985	-0.168000	0.09925	-0.126000	0.11682	0.462000	0.41574	CAT		0.403	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		52	73	0	0	0	1	0	52	73				
ARFGEF1	10565	broad.mit.edu	37	8	68116926	68116926	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr8:68116926C>G	ENST00000262215.3	-	35	5337	c.4948G>C	c.(4948-4950)Gct>Cct	p.A1650P	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A488P|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1104P|ARFGEF1_ENST00000517955.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1650					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGTGCTGCAGCTAAGTTTTCT	0.433																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4948-4950)Gct>Cct		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							164.0	138.0	146.0					8																	68116926		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68116926C>G	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4948G>C	8.37:g.68116926C>G	ENSP00000262215:p.Ala1650Pro					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A488P|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1104P	p.A1650P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		35	5337	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1650					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.4948G>C	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222003	0.79464	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.52754	0.65;0.65;0.65	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67239	0.2872	M	0.67397	2.05	0.80722	D	1	D;B;B;B	0.76494	0.999;0.012;0.047;0.054	D;B;B;B	0.65323	0.934;0.02;0.046;0.043	T	0.61322	-0.7086	10	0.36615	T	0.2	.	20.2543	0.98414	0.0:1.0:0.0:0.0	.	1650;1128;474;1104	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	P	1104;1650;488	ENSP00000428429:A1104P;ENSP00000262215:A1650P;ENSP00000430891:A488P	ENSP00000262215:A1650P	A	-	1	0	ARFGEF1	68279480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	GCT		0.433	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		36	67	0	0	0	1	0	36	67				
MED12	9968	broad.mit.edu	37	X	70339254	70339254	+	Missense_Mutation	SNP	G	G	C	rs199469676|rs199469692|rs199469688|rs199469689|rs199469672|rs199469677|rs199469678|rs199469680|rs199469681|rs199469691|rs199469690|rs199469684|rs199469685|rs199469686|rs199469687		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:70339254G>C	ENST00000374080.3	+	2	163	c.131G>C	c.(130-132)gGt>gCt	p.G44A	MED12_ENST00000333646.6_Missense_Mutation_p.G44A|MED12_ENST00000374102.1_Missense_Mutation_p.G44A			Q93074	MED12_HUMAN	mediator complex subunit 12	44					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G44D(105)|p.G44V(28)|p.G44A(17)|p.?(5)|p.K42_N46del(3)|p.L39_N47del(2)|p.V41_P49del(2)|p.K42_F45del(2)|p.E35_N46del(2)|p.Q43_N46>H(1)|p.V41_D54del(1)|p.A38_N46del(1)|p.V41_S52del(1)|p.L39_V51del(1)|p.N40_P49>F(1)|p.K42_V51del(1)|p.Q43_Q48del(1)|p.A38_S52del(1)|p.N40_G44del(1)|p.V41_N46del(1)|p.K42_G44>N(1)|p.Q43_G44>H(1)|p.G44_Q48del(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTAAAACAAGGTTTCAATAAC	0.527			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		180	Substitution - Missense(150)|Deletion - In frame(21)|Unknown(5)|Complex - deletion inframe(4)	p.G44D(105)|p.G44V(28)|p.G44A(17)|p.?(5)|p.K42_N46del(3)|p.L39_N47del(2)|p.V41_P49del(2)|p.K42_F45del(2)|p.E35_N46del(2)|p.Q43_N46>H(1)|p.V41_D54del(1)|p.A38_N46del(1)|p.V41_S52del(1)|p.L39_V51del(1)|p.N40_P49>F(1)|p.K42_V51del(1)|p.Q43_Q48del(1)|p.A38_S52del(1)|p.N40_G44del(1)|p.V41_N46del(1)|p.K42_G44>N(1)|p.Q43_G44>H(1)|p.G44_Q48del(1)	soft_tissue(177)|breast(2)|endometrium(1)	breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(130-132)gGt>gCt		mediator complex subunit 12							40.0	35.0	37.0					X																	70339254		1900	4109	6009	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70339254G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.131G>C	X.37:g.70339254G>C	ENSP00000363193:p.Gly44Ala					MED12_ENST00000374102.1_Missense_Mutation_p.G44A|MED12_ENST00000374080.3_Missense_Mutation_p.G44A	p.G44A	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			2	330	+	Renal(35;0.156)		44					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.131G>C	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	23.4|23.4	4.408216|4.408216	0.83340|0.83340	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072|ENST00000429213	D;D;D;D|.	0.87256|.	-2.23;-2.19;-2.2;-1.83|.	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73040|0.73040	0.3536|0.3536	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	T|T	0.73594|0.73594	-0.3933|-0.3933	10|5	0.87932|.	D|.	0|.	-13.5074|-13.5074	16.9324|16.9324	0.86193|0.86193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	44;44;44|.	F5H3Y1;Q93074-3;Q93074|.	.;.;MED12_HUMAN|.	A|L	44;44;44;44;12|29	ENSP00000333125:G44A;ENSP00000363215:G44A;ENSP00000363193:G44A;ENSP00000414203:G12A|.	ENSP00000333125:G44A|.	G|V	+|+	2|1	0|0	MED12|MED12	70255979|70255979	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.325000|9.325000	0.96381|0.96381	2.385000|2.385000	0.81259|0.81259	0.513000|0.513000	0.50165|0.50165	GGT|GTT		0.527	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		6	13	0	0	0	1	0	6	13				
F8	2157	broad.mit.edu	37	X	154091433	154091433	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:154091433A>C	ENST00000360256.4	-	23	6699	c.6499T>G	c.(6499-6501)Tac>Gac	p.Y2167D	F8_ENST00000330287.6_Missense_Mutation_p.Y32D	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2167	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAACGGATGTATCGAGCAATA	0.408																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(6499-6501)Tac>Gac		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						184.0	153.0	163.0					X																	154091433		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154091433A>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6499T>G	X.37:g.154091433A>C	ENSP00000353393:p.Tyr2167Asp					F8_ENST00000330287.6_Missense_Mutation_p.Y32D	p.Y2167D	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			23	6699	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2167			F5/8 type C 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.6499T>G	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	a	19.39	3.817791	0.71028	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.99462	-5.94;-5.94	5.7	5.7	0.88788	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.120055	0.64402	D	0.000016	D	0.99648	0.9870	H	0.95437	3.67	0.47341	D	0.999392	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97715	1.0193	10	0.87932	D	0	-15.5872	12.7314	0.57201	1.0:0.0:0.0:0.0	.	2167;32	P00451;Q14286	FA8_HUMAN;.	D	32;2167	ENSP00000327895:Y32D;ENSP00000353393:Y2167D	ENSP00000327895:Y32D	Y	-	1	0	F8	153744627	1.000000	0.71417	0.161000	0.22692	0.979000	0.70002	7.012000	0.76366	1.913000	0.55393	0.481000	0.45027	TAC		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			31	59	0	0	0	1	0	31	59				
EMR2	30817	broad.mit.edu	37	19	14866522	14866522	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:14866522T>C	ENST00000315576.3	-	13	1811	c.1360A>G	c.(1360-1362)Agc>Ggc	p.S454G	EMR2_ENST00000392965.3_Missense_Mutation_p.S454G|EMR2_ENST00000594076.1_Missense_Mutation_p.S361G|EMR2_ENST00000392967.2_Missense_Mutation_p.S443G|EMR2_ENST00000594294.1_Missense_Mutation_p.S405G|EMR2_ENST00000346057.1_Missense_Mutation_p.S405G|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000595839.1_Missense_Mutation_p.S312G|EMR2_ENST00000596991.2_Missense_Mutation_p.S443G|EMR2_ENST00000601345.1_Missense_Mutation_p.S443G|EMR2_ENST00000353876.1_Missense_Mutation_p.S361G|EMR2_ENST00000353005.1_Missense_Mutation_p.S312G	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	454					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCGTTGTTGCTCAGAAAGGCA	0.557																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1360-1362)Agc>Ggc		egf-like module containing, mucin-like, hormone receptor-like 2							202.0	180.0	188.0					19																	14866522		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14866522T>C	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1360A>G	19.37:g.14866522T>C	ENSP00000319883:p.Ser454Gly					EMR2_ENST00000353005.1_Missense_Mutation_p.S312G|EMR2_ENST00000594294.1_Missense_Mutation_p.S405G|EMR2_ENST00000595839.1_Missense_Mutation_p.S312G|EMR2_ENST00000346057.1_Missense_Mutation_p.S405G|EMR2_ENST00000596991.2_Missense_Mutation_p.S443G|EMR2_ENST00000601345.1_Missense_Mutation_p.S443G|EMR2_ENST00000392965.3_Missense_Mutation_p.S454G|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Missense_Mutation_p.S361G|EMR2_ENST00000392967.2_Missense_Mutation_p.S443G|EMR2_ENST00000594076.1_Missense_Mutation_p.S361G	p.S454G	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			13	1811	-			454					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1360A>G	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.133665	0.37630	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.80480	-0.87;-1.02;-0.39;0.4;1.14;-1.38	3.94	2.91	0.33838	.	.	.	.	.	T	0.76564	0.4005	M	0.79258	2.445	0.48901	D	0.999721	B;B;B;B;B;B;B;B	0.33857	0.051;0.019;0.014;0.429;0.014;0.005;0.023;0.022	B;B;B;B;B;B;B;B	0.34931	0.057;0.045;0.009;0.192;0.036;0.012;0.016;0.044	T	0.68164	-0.5481	9	0.24483	T	0.36	.	6.4135	0.21704	0.0:0.1197:0.0:0.8803	.	454;361;454;312;405;454;454;443	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	G	454;443;405;361;312;454	ENSP00000319883:S454G;ENSP00000376694:S443G;ENSP00000263380:S405G;ENSP00000319454:S361G;ENSP00000319838:S312G;ENSP00000376692:S454G	ENSP00000319883:S454G	S	-	1	0	EMR2	14727522	0.029000	0.19370	0.108000	0.21378	0.451000	0.32288	1.040000	0.30278	0.639000	0.30564	0.491000	0.48974	AGC		0.557	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			55	78	0	0	0	1	0	55	78				
ACPP	55	broad.mit.edu	37	3	132068806	132068806	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:132068806C>G	ENST00000336375.5	+	8	914	c.824C>G	c.(823-825)aCt>aGt	p.T275S	ACPP_ENST00000351273.7_Missense_Mutation_p.T275S|ACPP_ENST00000475741.1_Missense_Mutation_p.T242S	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	275					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						AAGAGAGCAACTCAGATACCA	0.348																																						ENST00000336375.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(823-825)aCt>aGt		acid phosphatase, prostate							145.0	130.0	135.0					3																	132068806		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132068806C>G		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.824C>G	3.37:g.132068806C>G	ENSP00000337471:p.Thr275Ser					ACPP_ENST00000475741.1_Missense_Mutation_p.T242S|ACPP_ENST00000351273.7_Missense_Mutation_p.T275S	p.T275S	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN			8	914	+			275					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.824C>G	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936427	0.18206	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.30714	1.52;1.52;1.52	5.82	4.95	0.65309	.	0.430731	0.24652	N	0.036702	T	0.20251	0.0487	N	0.17674	0.51	0.09310	N	1	B;B;P	0.36483	0.174;0.144;0.555	B;B;B	0.35931	0.049;0.029;0.214	T	0.11518	-1.0584	10	0.42905	T	0.14	.	10.7579	0.46247	0.0:0.9129:0.0:0.0871	.	275;275;242	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	S	275;242;275	ENSP00000337471:T275S;ENSP00000417744:T242S;ENSP00000323036:T275S	ENSP00000337471:T275S	T	+	2	0	ACPP	133551496	0.013000	0.17824	0.008000	0.14137	0.012000	0.07955	2.619000	0.46401	1.460000	0.47911	0.557000	0.71058	ACT		0.348	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		24	43	0	0	0	1	0	24	43				
ANKRD30A	91074	broad.mit.edu	37	10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:37486356G>C	ENST00000602533.1	+	29	2595	c.2496G>C	c.(2494-2496)aaG>aaC	p.K832N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K951N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2851-2853)aaG>aaC		ankyrin repeat domain 30A							87.0	78.0	81.0					10																	37486356		1801	4060	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486356G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2496G>C	10.37:g.37486356G>C	ENSP00000473551:p.Lys832Asn					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N	p.K951N			Q9BXX3	AN30A_HUMAN			35	2952	+			1000					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2853G>C		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.321822	0.00018	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05139	3.49;3.49	1.36	-2.73	0.05950	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.14252	T	0.57	.	0.0386	0.00007	0.2591:0.193:0.2234:0.3245	.	888	Q9BXX3	AN30A_HUMAN	N	832;951	ENSP00000354432:K832N;ENSP00000363792:K951N	ENSP00000354432:K832N	K	+	3	2	ANKRD30A	37526362	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.102000	0.15272	-2.701000	0.00398	-2.035000	0.00420	AAG		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		4	208	0	0	0	1	0	4	208				
SRRT	51593	broad.mit.edu	37	7	100478923	100478923	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:100478923G>A	ENST00000347433.4	+	3	298	c.140G>A	c.(139-141)cGt>cAt	p.R47H	SRRT_ENST00000457580.2_Missense_Mutation_p.R47H|SRRT_ENST00000388793.4_Missense_Mutation_p.R47H|SRRT_ENST00000432932.1_Missense_Mutation_p.R47H			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	47	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCGTGGCCGTGAGCGCCGT	0.582																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(139-141)cGt>cAt		serrate RNA effector molecule homolog (Arabidopsis)							97.0	87.0	91.0					7																	100478923		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100478923G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.140G>A	7.37:g.100478923G>A	ENSP00000314491:p.Arg47His					SRRT_ENST00000432932.1_Missense_Mutation_p.R47H|SRRT_ENST00000347433.4_Missense_Mutation_p.R47H|SRRT_ENST00000457580.2_Missense_Mutation_p.R47H	p.R47H	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			3	360	+			47			Arg-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.140G>A	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389419	0.61956	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000431645	.	.	.	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000001	T	0.67785	0.2930	L	0.51422	1.61	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.991;0.991;0.98	T	0.62086	-0.6928	9	0.14656	T	0.56	.	15.3558	0.74425	0.0:0.0:1.0:0.0	.	47;47;47;47	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	H	47;47;47;47;54	.	ENSP00000314491:R47H	R	+	2	0	SRRT	100316859	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	8.871000	0.92346	2.273000	0.75805	0.585000	0.79938	CGT		0.582	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		72	113	0	0	0	1	0	72	113				
MUC16	94025	broad.mit.edu	37	19	9067115	9067115	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:9067115C>G	ENST00000397910.4	-	3	20534	c.20331G>C	c.(20329-20331)atG>atC	p.M6777I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6779	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACAGTGGTCATTTCTGAGT	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(20329-20331)atG>atC		mucin 16, cell surface associated							218.0	218.0	218.0					19																	9067115		2194	4293	6487	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067115C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20331G>C	19.37:g.9067115C>G	ENSP00000381008:p.Met6777Ile						p.M6777I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	20534	-			6779			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20331G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.900	-0.227726	0.06022	.	.	ENSG00000181143	ENST00000397910	T	0.25414	1.8	1.78	0.586	0.17434	.	.	.	.	.	T	0.12817	0.0311	N	0.24115	0.695	.	.	.	P	0.46020	0.871	B	0.34722	0.188	T	0.16897	-1.0387	8	0.87932	D	0	.	5.7378	0.18077	0.0:0.6563:0.3436:0.0	.	6777	B5ME49	.	I	6777	ENSP00000381008:M6777I	ENSP00000381008:M6777I	M	-	3	0	MUC16	8928115	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.730000	0.04915	0.259000	0.21709	0.386000	0.25728	ATG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		81	102	0	0	0	1	0	81	102				
YLPM1	56252	broad.mit.edu	37	14	75266314	75266314	+	Silent	SNP	T	T	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:75266314T>G	ENST00000325680.7	+	5	4438	c.4314T>G	c.(4312-4314)tcT>tcG	p.S1438S	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.S1243S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1243					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTTAGACTCTGACCAAGGCC	0.483																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4312-4314)tcT>tcG		YLP motif containing 1							108.0	101.0	103.0					14																	75266314		1946	4140	6086	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75266314T>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4314T>G	14.37:g.75266314T>G						YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.S1243S	p.S1438S	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4438	+			1243					P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	c.4314T>G	CCDS45135.1																																																																																				0.483	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		46	49	0	0	0	1	0	46	49				
ORC3	23595	broad.mit.edu	37	6	88374460	88374460	+	Splice_Site	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:88374460G>C	ENST00000392844.3	+	18	1881		c.e18-1		ORC3_ENST00000257789.4_Splice_Site|ORC3_ENST00000546266.1_Splice_Site	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3						DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTAATTGTTAGAATGAAGCAC	0.383																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.e18-1		origin recognition complex, subunit 3							65.0	60.0	62.0					6																	88374460		2203	4300	6503	SO:0001630	splice_region_variant	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88374460G>C	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1834-1G>C	6.37:g.88374460G>C						ORC3_ENST00000546266.1_Splice_Site|ORC3_ENST00000257789.4_Splice_Site		NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			18	1881	+								A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Splice_Site	SNP	ENST00000392844.3	37		CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319961	0.81469	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0498	0.89344	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ORC3	88431179	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.032000	0.93736	2.808000	0.96608	0.650000	0.86243	.		0.383	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2		Intron	34	43	0	0	0	1	0	34	43				
SERPINE1	5054	broad.mit.edu	37	7	100780300	100780300	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:100780300G>A	ENST00000223095.4	+	8	1263	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369		Reactive bond.			angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTCTCAGCCCGCATGGCCCCC	0.582																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1105-1107)cGc>cAc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						131.0	111.0	118.0					7																	100780300		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100780300G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1106G>A	7.37:g.100780300G>A	ENSP00000223095:p.Arg369His					SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	p.R369H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			8	1263	+	Lung NSC(181;0.136)|all_lung(186;0.182)		369				Reactive bond.	B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.1106G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432084	0.62844	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.24350	1.86;1.86	5.67	5.67	0.87782	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.85945	2.785	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.70016	0.945;0.967	T	0.60505	-0.7250	10	0.72032	D	0.01	.	15.2607	0.73621	0.0:0.0:1.0:0.0	.	354;369	F8WD53;P05121	.;PAI1_HUMAN	H	369;354;146	ENSP00000223095:R369H;ENSP00000396766:R354H	ENSP00000223095:R369H	R	+	2	0	SERPINE1	100567020	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	7.941000	0.87700	2.664000	0.90586	0.555000	0.69702	CGC		0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		3	74	0	0	0	1	0	3	74				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	43	0	0	0	1	0	35	43				
MAP7D3	79649	broad.mit.edu	37	X	135310868	135310868	+	Silent	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135310868T>C	ENST00000316077.9	-	11	2020	c.1800A>G	c.(1798-1800)acA>acG	p.T600T	MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370663.5_Silent_p.T582T|MAP7D3_ENST00000370661.1_Silent_p.T565T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	600					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCAAAATTTTTGTTGCCGCCT	0.408																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1798-1800)acA>acG		MAP7 domain containing 3							107.0	93.0	97.0					X																	135310868		1834	4076	5910	SO:0001819	synonymous_variant	79649					cytoplasm|spindle		g.chrX:135310868T>C	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1800A>G	X.37:g.135310868T>C						MAP7D3_ENST00000370661.1_Silent_p.T565T|MAP7D3_ENST00000370663.5_Silent_p.T582T|MAP7D3_ENST00000495432.1_5'UTR	p.T600T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			11	2020	-	Acute lymphoblastic leukemia(192;0.000127)		600					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	ENST00000316077.9	37	c.1800A>G	CCDS44004.1																																																																																				0.408	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			30	108	0	0	0	1	0	30	108				
KRT28	162605	broad.mit.edu	37	17	38953433	38953433	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:38953433G>A	ENST00000306658.7	-	4	856	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCGTACTCCGCTCGCATGTT	0.637																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(790-792)gCg>gTg		keratin 28							68.0	65.0	66.0					17																	38953433		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38953433G>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.791C>T	17.37:g.38953433G>A	ENSP00000305263:p.Ala264Val						p.A264V	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			4	856	-		Breast(137;0.000301)	264			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000306658.7	37	c.791C>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477236	0.84640	.	.	ENSG00000173908	ENST00000306658	D	0.89939	-2.59	4.72	4.72	0.59763	Filament (1);	0.000000	0.51477	D	0.000093	D	0.94377	0.8192	M	0.83852	2.665	0.46927	D	0.999259	D	0.76494	0.999	D	0.72982	0.979	D	0.95001	0.8143	10	0.66056	D	0.02	.	15.5454	0.76093	0.0:0.0:1.0:0.0	.	264	Q7Z3Y7	K1C28_HUMAN	V	264	ENSP00000305263:A264V	ENSP00000305263:A264V	A	-	2	0	KRT28	36206959	0.000000	0.05858	0.937000	0.37676	0.920000	0.55202	0.723000	0.25939	2.337000	0.79520	0.591000	0.81541	GCG		0.637	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		14	61	0	0	0	1	0	14	61				
OIT3	170392	broad.mit.edu	37	10	74692199	74692199	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:74692199C>T	ENST00000334011.5	+	9	1773	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	519						nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GCGAATGCGTCGTGGGGCAGG	0.612																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.(1555-1557)Cgt>Tgt		oncoprotein induced transcript 3							85.0	84.0	85.0					10																	74692199		2203	4300	6503	SO:0001583	missense	170392					nuclear envelope	calcium ion binding	g.chr10:74692199C>T		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1555C>T	10.37:g.74692199C>T	ENSP00000333900:p.Arg519Cys						p.R519C	NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			9	1773	+	Prostate(51;0.0198)		519					A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	c.1555C>T	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327742	0.95733	.	.	ENSG00000138315	ENST00000334011	D	0.85556	-2.0	6.06	5.14	0.70334	.	0.000000	0.51477	D	0.000083	D	0.93539	0.7938	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94614	0.7807	10	0.87932	D	0	-23.7938	13.4431	0.61125	0.4252:0.5748:0.0:0.0	.	519	Q8WWZ8	OIT3_HUMAN	C	519	ENSP00000333900:R519C	ENSP00000333900:R519C	R	+	1	0	OIT3	74362205	0.773000	0.28580	0.133000	0.22050	0.664000	0.39144	1.371000	0.34250	1.524000	0.49035	0.655000	0.94253	CGT		0.612	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635		9	76	0	0	0	1	0	9	76				
TACC2	10579	broad.mit.edu	37	10	123846263	123846263	+	Silent	SNP	C	C	T	rs186111089	byFrequency	TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:123846263C>T	ENST00000369005.1	+	4	4588	c.4248C>T	c.(4246-4248)ttC>ttT	p.F1416F	TACC2_ENST00000453444.2_Silent_p.F1416F|TACC2_ENST00000334433.3_Silent_p.F1416F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.F1416F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.F1416F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1416					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAAGATCTTCGAGAAGCCTG	0.592													C|||	4	0.000798722	0.003	0.0	5008	,	,		19284	0.0		0.0	False		,,,				2504	0.0					ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(4246-4248)ttC>ttT		transforming, acidic coiled-coil containing protein 2							61.0	59.0	60.0					10																	123846263		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846263C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4248C>T	10.37:g.123846263C>T						TACC2_ENST00000453444.2_Silent_p.F1416F|TACC2_ENST00000515273.1_Silent_p.F1416F|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.F1416F|TACC2_ENST00000515603.1_Silent_p.F1416F|TACC2_ENST00000358010.1_Intron	p.F1416F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	4588	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1416					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.4248C>T	CCDS7626.1																																																																																				0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			3	48	0	0	0	1	0	3	48				
GPR112	139378	broad.mit.edu	37	X	135405259	135405259	+	Silent	SNP	C	C	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135405259C>A	ENST00000394143.1	+	5	684	c.393C>A	c.(391-393)ggC>ggA	p.G131G	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Silent_p.G131G|GPR112_ENST00000287534.4_Silent_p.G68G|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	131					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGTGAAGGGCAAATTAGAAC	0.428																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(391-393)ggC>ggA		G protein-coupled receptor 112							161.0	143.0	149.0					X																	135405259		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405259C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.393C>A	X.37:g.135405259C>A						GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Silent_p.G131G|GPR112_ENST00000287534.4_Silent_p.G68G	p.G131G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	684	+	Acute lymphoblastic leukemia(192;0.000127)		131					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.393C>A	CCDS35409.1																																																																																				0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			49	80	1	0	2.24722e-20	1	2.36072e-20	49	80				
FAT1	2195	broad.mit.edu	37	4	187542106	187542106	+	Silent	SNP	C	C	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:187542106C>A	ENST00000441802.2	-	10	5843	c.5634G>T	c.(5632-5634)gtG>gtT	p.V1878V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1878	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTTGGCAAACACAGGGGGGC	0.408										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5632-5634)gtG>gtT		FAT atypical cadherin 1							67.0	68.0	68.0					4																	187542106		1918	4133	6051	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542106C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5634G>T	4.37:g.187542106C>A		HNSCC(5;0.00058)					p.V1878V	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5843	-			1878			Cadherin 16.			Silent	SNP	ENST00000441802.2	37	c.5634G>T	CCDS47177.1																																																																																				0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		4	42	1	0	0.150653	1	0.152116	4	42				
CDH24	64403	broad.mit.edu	37	14	23517549	23517549	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:23517549G>C	ENST00000267383.5	-	12	2192	c.2100C>G	c.(2098-2100)atC>atG	p.I700M	CDH24_ENST00000554034.1_Missense_Mutation_p.I662M|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000487137.2_Missense_Mutation_p.I662M|CDH24_ENST00000397359.3_Missense_Mutation_p.I700M			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	700					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCAAGGCCGTGATGTCGAAGG	0.711																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(2098-2100)atC>atG		cadherin 24, type 2							59.0	66.0	64.0					14																	23517549		2201	4298	6499	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23517549G>C	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.2100C>G	14.37:g.23517549G>C	ENSP00000267383:p.Ile700Met					CDH24_ENST00000554034.1_Missense_Mutation_p.I662M|CDH24_ENST00000267383.5_Missense_Mutation_p.I700M|CDH24_ENST00000487137.2_Missense_Mutation_p.I662M|CDH24_ENST00000485922.1_5'UTR	p.I700M	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	13	2359	-	all_cancers(95;3.3e-05)		700					D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.2100C>G	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567281	0.45694	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	3.91	3.91	0.45181	Cadherin, cytoplasmic domain (1);	0.065520	0.64402	D	0.000011	T	0.69477	0.3115	L	0.44542	1.39	0.44736	D	0.997731	B;P	0.35050	0.211;0.482	B;B	0.37304	0.081;0.246	T	0.67585	-0.5633	10	0.32370	T	0.25	.	10.2277	0.43236	0.0:0.3441:0.6559:0.0	.	662;700	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	M	700;662;195;662;700	ENSP00000380517:I700M;ENSP00000434821:I662M;ENSP00000452493:I662M;ENSP00000267383:I700M	ENSP00000267383:I700M	I	-	3	3	CDH24	22587389	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	0.164000	0.16542	2.006000	0.58801	0.655000	0.94253	ATC		0.711	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		47	65	0	0	0	1	0	47	65				
MIR522	574495	broad.mit.edu	37	19	54255706	54255706	+	RNA	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:54255706G>C	ENST00000385071.1	+	0	87				MIR519A1_ENST00000385257.1_RNA|MIR527_ENST00000385244.1_RNA|RNU6-751P_ENST00000516382.1_RNA	NR_030217.1				microRNA 522																		AGAAAGGAAAGTGCATCCTTT	0.413																																						ENST00000385257.1																			0																				144.0	138.0	140.0					19																	54255706		1568	3582	5150			0							g.chr19:54255706G>C			19q13.42	2011-09-12		2008-12-18	ENSG00000207806	ENSG00000207806		"""ncRNAs / Micro RNAs"""	32127	non-coding RNA	RNA, micro				MIRN522			Standard	NR_030217		Approved	hsa-mir-522	uc021vat.1				19.37:g.54255706G>C								NR_030218.1						0	56	+									RNA	SNP	ENST00000385071.1	37																																																																																						0.413	MIR522-201	KNOWN	basic	miRNA	miRNA		NR_030217		52	32	0	0	0	1	0	52	32				
RGS19	10287	broad.mit.edu	37	20	62705641	62705641	+	Silent	SNP	C	C	T	rs140669717	byFrequency	TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr20:62705641C>T	ENST00000395042.1	-	5	584	c.318G>A	c.(316-318)gcG>gcA	p.A106A	RGS19_ENST00000332298.5_Silent_p.A106A|RGS19_ENST00000493165.1_5'Flank	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	106	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCCGCAGGAACGCCCGGAACA	0.622													C|||	4	0.000798722	0.0	0.0	5008	,	,		20046	0.004		0.0	False		,,,				2504	0.0					ENST00000395042.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(316-318)gcG>gcA		regulator of G-protein signaling 19		C	,	1,4405	2.1+/-5.4	0,1,2202	70.0	59.0	63.0		318,318	-0.7	0.8	20	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RGS19	NM_001039467.1,NM_005873.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	106/218,106/218	62705641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705641C>T	X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.318G>A	20.37:g.62705641C>T						RGS19_ENST00000332298.5_Silent_p.A106A	p.A106A	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN			5	584	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		106			RGS.		A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	37	c.318G>A	CCDS13555.1																																																																																				0.622	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		4	34	0	0	0	1	0	4	34				
ILF3	3609	broad.mit.edu	37	19	10795094	10795094	+	Intron	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:10795094G>C	ENST00000590261.1	+	16	2059				ILF3_ENST00000318511.3_Intron|ILF3_ENST00000589998.1_Missense_Mutation_p.D688H|ILF3_ENST00000449870.1_Intron|ILF3_ENST00000588657.1_Intron|ILF3_ENST00000407004.3_Missense_Mutation_p.D692H|ILF3_ENST00000420083.1_Intron|ILF3_ENST00000250241.8_Intron|ILF3_ENST00000592763.1_3'UTR			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTTTGTAGGTGACTTTTTCAC	0.388																																						ENST00000407004.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2074-2076)Gac>Cac		interleukin enhancer binding factor 3, 90kDa							120.0	118.0	119.0					19																	10795094		2203	4300	6503	SO:0001627	intron_variant	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10795094G>C	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2059+448G>C	19.37:g.10795094G>C						ILF3_ENST00000420083.1_Intron|ILF3_ENST00000590261.1_Intron|ILF3_ENST00000592763.1_3'UTR|ILF3_ENST00000588657.1_Intron|ILF3_ENST00000449870.1_Intron|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000589998.1_Missense_Mutation_p.D688H|ILF3_ENST00000250241.8_Intron	p.D692H	NM_001137673.1	NP_001131145.1	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		18	2324	+			688			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2074G>C	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823236	0.71143	.	.	ENSG00000129351	ENST00000407004;ENST00000250241	T	0.15372	2.43	5.91	5.91	0.95273	.	.	.	.	.	T	0.26593	0.0650	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.60345	0.873;0.873	T	0.01212	-1.1417	9	0.51188	T	0.08	.	19.1451	0.93461	0.0:0.0:1.0:0.0	.	692;688	Q12906-6;Q12906-2	.;.	H	692;688	ENSP00000384660:D692H	ENSP00000250241:D688H	D	+	1	0	ILF3	10656094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.095000	0.94175	2.820000	0.97059	0.650000	0.86243	GAC		0.388	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			48	92	0	0	0	1	0	48	92				
OR2T10	127069	broad.mit.edu	37	1	248757066	248757066	+	Missense_Mutation	SNP	G	G	A	rs202004133		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:248757066G>A	ENST00000330500.2	-	1	34	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGGCCAGCCGCATGCTGTAT	0.453													a|||	1	0.000199681	0.0008	0.0	5008	,	,		14745	0.0		0.0	False		,,,				2504	0.0					ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(4-6)Cgg>Tgg		olfactory receptor, family 2, subfamily T, member 10																																				SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248757066G>A		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.4C>T	1.37:g.248757066G>A	ENSP00000329210:p.Arg2Trp						p.R2W	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	34	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2					B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.4C>T	CCDS31121.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	7.001	0.554841	0.13436	.	.	ENSG00000184022	ENST00000330500	T	0.00372	7.73	2.34	1.08	0.20341	.	.	.	.	.	T	0.00178	0.0005	N	0.12961	0.28	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38714	-0.9648	9	0.37606	T	0.19	.	0.4685	0.00528	0.3749:0.1829:0.2623:0.1798	.	2	Q8NGZ9	O2T10_HUMAN	W	2	ENSP00000329210:R2W	ENSP00000329210:R2W	R	-	1	2	OR2T10	246823689	0.000000	0.05858	0.073000	0.20177	0.041000	0.13682	-1.796000	0.01750	0.045000	0.15804	-0.667000	0.03836	CGG		0.453	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		8	71	0	0	0	1	0	8	71				
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAACACGCACCTCAAAGCTG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920676	TP53	M	rs121912657	c.(814-816)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							62.0	54.0	57.0					17																	7577124		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577124C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron	p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	946	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	272		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.814G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	16	0	0	0	1	0	18	16				
TSIX	9383	broad.mit.edu	37	X	73041569	73041569	+	lincRNA	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:73041569A>G	ENST00000604411.1	+	0	29530				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AAGCCCAGCCAGGCCTACATT	0.358																																						ENST00000604411.1																			0																				7.0	7.0	7.0					X																	73041569		870	1955	2825			0							g.chrX:73041569A>G			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73041569A>G						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	29530	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.358	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		4	11	0	0	0	1	0	4	11				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	32	0	0	0	1	0	4	32				
PTPLAD1	51495	broad.mit.edu	37	15	65847277	65847277	+	Silent	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:65847277C>T	ENST00000261875.5	+	3	349	c.183C>T	c.(181-183)ttC>ttT	p.F61F	PTPLAD1_ENST00000566074.1_5'UTR|RNU6-19P_ENST00000384718.1_RNA|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000568793.1_Silent_p.F36F|PTPLAD1_ENST00000442729.2_Silent_p.F61F|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.F99F	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	61	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						ACCTGGAGTTCTTAGACCTTG	0.423																																						ENST00000261875.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						c.(181-183)ttC>ttT		protein tyrosine phosphatase-like A domain containing 1							243.0	228.0	233.0					15																	65847277		1857	4101	5958	SO:0001819	synonymous_variant	51495				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding	g.chr15:65847277C>T		CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.183C>T	15.37:g.65847277C>T						PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.F99F|PTPLAD1_ENST00000442729.2_Silent_p.F61F|PTPLAD1_ENST00000568793.1_Silent_p.F36F|PTPLAD1_ENST00000569894.1_5'UTR	p.F61F	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN			3	349	+			61			CS.		A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Silent	SNP	ENST00000261875.5	37	c.183C>T	CCDS45282.1																																																																																				0.423	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	NM_016395		40	79	0	0	0	1	0	40	79				
DSTYK	25778	broad.mit.edu	37	1	205126503	205126503	+	Silent	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:205126503G>A	ENST00000367162.3	-	10	2280	c.2250C>T	c.(2248-2250)acC>acT	p.T750T	DSTYK_ENST00000367161.3_Silent_p.T750T|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	750	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGTCTCCAGGGTCAGCCCAG	0.483																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(2248-2250)acC>acT		dual serine/threonine and tyrosine protein kinase							105.0	91.0	96.0					1																	205126503		2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205126503G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2250C>T	1.37:g.205126503G>A						DSTYK_ENST00000367161.3_Silent_p.T750T|DSTYK_ENST00000367160.4_Intron	p.T750T	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			10	2280	-			750			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.2250C>T	CCDS1451.1																																																																																				0.483	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		7	53	0	0	0	1	0	7	53				
GLRB	2743	broad.mit.edu	37	4	158057967	158057967	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:158057967C>G	ENST00000264428.4	+	6	809	c.539C>G	c.(538-540)aCt>aGt	p.T180S	GLRB_ENST00000509282.1_Missense_Mutation_p.T180S|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.T180S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	180					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TTATCTATTACTCTTTCATGC	0.343																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.(538-540)aCt>aGt		glycine receptor, beta	Glycine(DB00145)						122.0	121.0	121.0					4																	158057967		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158057967C>G	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.539C>G	4.37:g.158057967C>G	ENSP00000264428:p.Thr180Ser					GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.T180S|GLRB_ENST00000541722.1_Missense_Mutation_p.T180S	p.T180S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	6	809	+	all_hematologic(180;0.24)	Renal(120;0.0458)	180					A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.539C>G	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920476	0.52653	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.79940	-1.32;-1.32;-1.32	5.66	5.66	0.87406	Neurotransmitter-gated ion-channel ligand-binding (3);	0.048010	0.85682	D	0.000000	D	0.88760	0.6524	M	0.75085	2.285	0.54753	D	0.999986	D	0.63046	0.992	P	0.61658	0.892	D	0.89615	0.3844	10	0.87932	D	0	.	18.5012	0.90882	0.0:1.0:0.0:0.0	.	180	P48167	GLRB_HUMAN	S	180	ENSP00000264428:T180S;ENSP00000441873:T180S;ENSP00000427186:T180S	ENSP00000264428:T180S	T	+	2	0	GLRB	158277417	0.999000	0.42202	0.971000	0.41717	0.010000	0.07245	2.659000	0.46741	2.658000	0.90341	0.650000	0.86243	ACT		0.343	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		23	41	0	0	0	1	0	23	41				
GPR112	139378	broad.mit.edu	37	X	135485410	135485410	+	Silent	SNP	G	G	A	rs377307988		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135485410G>A	ENST00000394143.1	+	22	8874	c.8583G>A	c.(8581-8583)ccG>ccA	p.P2861P	GPR112_ENST00000412101.1_Silent_p.P2656P|GPR112_ENST00000370652.1_Silent_p.P2861P|GPR112_ENST00000287534.4_Silent_p.P2614P|GPR112_ENST00000394141.1_Silent_p.P2656P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2861					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGGAATCCCGGCTATCATGG	0.458																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(8581-8583)ccG>ccA		G protein-coupled receptor 112		G		0,3835		0,0,1632,571	124.0	90.0	101.0		8583	0.4	1.0	X		101	1,6727		0,1,2427,1872	no	coding-synonymous	GPR112	NM_153834.3		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		2861/3081	135485410	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135485410G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8583G>A	X.37:g.135485410G>A						GPR112_ENST00000412101.1_Silent_p.P2656P|GPR112_ENST00000394141.1_Silent_p.P2656P|GPR112_ENST00000370652.1_Silent_p.P2861P|GPR112_ENST00000287534.4_Silent_p.P2614P	p.P2861P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			22	8874	+	Acute lymphoblastic leukemia(192;0.000127)		2861					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.8583G>A	CCDS35409.1																																																																																				0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			21	29	0	0	0	1	0	21	29				
PVRL3	25945	broad.mit.edu	37	3	110837743	110837743	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:110837743T>C	ENST00000485303.1	+	3	1018	c.743T>C	c.(742-744)gTa>gCa	p.V248A	PVRL3_ENST00000319792.3_Missense_Mutation_p.V248A|PVRL3_ENST00000493615.1_Missense_Mutation_p.V225A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	248	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACTTGTGTTGTAAAACATCCA	0.363																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(742-744)gTa>gCa		poliovirus receptor-related 3							73.0	71.0	72.0					3																	110837743		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110837743T>C	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.743T>C	3.37:g.110837743T>C	ENSP00000418070:p.Val248Ala					PVRL3_ENST00000493615.1_Missense_Mutation_p.V225A|PVRL3_ENST00000319792.3_Missense_Mutation_p.V248A	p.V248A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			3	1018	+			248			Ig-like C2-type 1.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.743T>C	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.590721	0.86851	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.00940	5.52;5.52;5.52	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	M	0.72479	2.2	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.992	T	0.40478	-0.9561	9	.	.	.	.	13.7501	0.62901	0.0:0.0:0.0:1.0	.	225;248	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	A	248;248;225	ENSP00000418070:V248A;ENSP00000321514:V248A;ENSP00000420579:V225A	.	V	+	2	0	PVRL3	112320433	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.987000	0.76206	2.140000	0.66376	0.528000	0.53228	GTA		0.363	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		13	79	0	0	0	1	0	13	79				
NEDD4	4734	broad.mit.edu	37	15	56155250	56155250	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:56155250C>G	ENST00000508342.1	-	5	2091	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	NEDD4_ENST00000435532.3_Missense_Mutation_p.D179H|NEDD4_ENST00000338963.2_Missense_Mutation_p.D526H|NEDD4_ENST00000506154.1_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	598	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAAGCAGCATCTGGTTGGTCC	0.423																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1792-1794)Gat>Cat		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							102.0	92.0	95.0					15																	56155250		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56155250C>G	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1792G>C	15.37:g.56155250C>G	ENSP00000424827:p.Asp598His					NEDD4_ENST00000435532.3_Missense_Mutation_p.D179H|NEDD4_ENST00000338963.2_Missense_Mutation_p.D526H|NEDD4_ENST00000506154.1_Intron	p.D598H			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	5	2091	-			598			Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.1792G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.638197|4.638197	0.87760|0.87760	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963|ENST00000508871	D;D;T|.	0.91792|.	-2.91;-2.91;1.75|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.881136|.	0.09900|.	N|.	0.741179|.	T|T	0.69106|0.69106	0.3074|0.3074	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.907;0.982;1.0|.	P;P;D|.	0.76071|.	0.784;0.887;0.987|.	T|T	0.64922|0.64922	-0.6293|-0.6293	10|5	0.56958|.	D|.	0.05|.	.|.	18.5251|18.5251	0.90969|0.90969	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	179;598;526|.	P46934-4;P46934;P46934-3|.	.;NEDD4_HUMAN;.|.	H|H	598;179;526|188	ENSP00000424827:D598H;ENSP00000410613:D179H;ENSP00000345530:D526H|.	ENSP00000345530:D526H|.	D|Q	-|-	1|3	0|2	NEDD4|NEDD4	53942542|53942542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.321000|5.321000	0.65846|0.65846	2.610000|2.610000	0.88304|0.88304	0.557000|0.557000	0.71058|0.71058	GAT|CAG		0.423	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		17	26	0	0	0	1	0	17	26				
ADAMTS9	56999	broad.mit.edu	37	3	64644310	64644310	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:64644310C>G	ENST00000498707.1	-	4	1179	c.837G>C	c.(835-837)aaG>aaC	p.K279N	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	279					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGTGGGTCCTCTTTTCTCTTG	0.438																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(835-837)aaG>aaC		ADAM metallopeptidase with thrombospondin type 1 motif, 9							245.0	237.0	240.0					3																	64644310		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64644310C>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.837G>C	3.37:g.64644310C>G	ENSP00000418735:p.Lys279Asn					ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N	p.K279N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	4	1179	-		Lung NSC(201;0.00682)	279					A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.837G>C	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	2.937	-0.219673	0.06061	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.63255	0.16;0.17;-0.03	6.01	1.65	0.23941	.	0.440621	0.25430	N	0.030734	T	0.39436	0.1078	N	0.24115	0.695	0.09310	N	0.99999	B;B;B;B	0.23249	0.001;0.002;0.082;0.001	B;B;B;B	0.23716	0.001;0.005;0.048;0.001	T	0.11991	-1.0565	10	0.29301	T	0.29	.	2.6824	0.05098	0.1275:0.4915:0.1248:0.2562	.	279;279;279;279	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	N	279	ENSP00000295903:K279N;ENSP00000418735:K279N;ENSP00000419217:K279N	ENSP00000295903:K279N	K	-	3	2	ADAMTS9	64619350	0.948000	0.32251	0.213000	0.23690	0.104000	0.19210	0.081000	0.14823	0.413000	0.25759	-0.175000	0.13238	AAG		0.438	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			79	118	0	0	0	1	0	79	118				
ATRX	546	broad.mit.edu	37	X	76813056	76813056	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:76813056C>G	ENST00000373344.5	-	30	6779	c.6565G>C	c.(6565-6567)Gtt>Ctt	p.V2189L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.V2151L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2189	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGATCAACAACTCGAAAAGAC	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6565-6567)Gtt>Ctt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						146.0	132.0	137.0					X																	76813056		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76813056C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6565G>C	X.37:g.76813056C>G	ENSP00000362441:p.Val2189Leu					ATRX_ENST00000395603.3_Missense_Mutation_p.V2151L|ATRX_ENST00000480283.1_5'UTR	p.V2189L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6779	-			2189			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.6565G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826625	0.71143	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.92495	-3.05;-3.05	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.95310	0.8478	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.984	D	0.95700	0.8748	10	0.87932	D	0	-10.4612	18.5479	0.91054	0.0:1.0:0.0:0.0	.	2151;2189	P46100-4;P46100	.;ATRX_HUMAN	L	2189;2151	ENSP00000362441:V2189L;ENSP00000378967:V2151L	ENSP00000362441:V2189L	V	-	1	0	ATRX	76699712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.484000	0.81180	2.323000	0.78572	0.600000	0.82982	GTT		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		76	95	0	0	0	1	0	76	95				
AKAP8	10270	broad.mit.edu	37	19	15483080	15483080	+	Missense_Mutation	SNP	G	G	C	rs564210492		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:15483080G>C	ENST00000269701.2	-	6	1000	c.940C>G	c.(940-942)Cca>Gca	p.P314A		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	314					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTGGTGTCTGGCTCCTCGTAA	0.572																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(940-942)Cca>Gca		A kinase (PRKA) anchor protein 8							126.0	103.0	110.0					19																	15483080		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15483080G>C	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.940C>G	19.37:g.15483080G>C	ENSP00000269701:p.Pro314Ala						p.P314A	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			6	1000	-			314						Missense_Mutation	SNP	ENST00000269701.2	37	c.940C>G	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757206	0.49468	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.58358	0.34	5.44	5.44	0.79542	.	0.123452	0.37393	N	0.002118	T	0.61400	0.2344	M	0.66939	2.045	0.34414	D	0.69672	P;P	0.52316	0.952;0.952	P;P	0.49477	0.612;0.612	T	0.74928	-0.3497	10	0.66056	D	0.02	-5.9559	16.1722	0.81825	0.0:0.0:1.0:0.0	.	314;314	Q8NE02;O43823	.;AKAP8_HUMAN	A	314;63	ENSP00000269701:P314A	ENSP00000269701:P314A	P	-	1	0	AKAP8	15344080	1.000000	0.71417	0.871000	0.34182	0.146000	0.21551	6.325000	0.72901	2.549000	0.85964	0.563000	0.77884	CCA		0.572	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		21	22	0	0	0	1	0	21	22				
LGI1	9211	broad.mit.edu	37	10	95556899	95556899	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:95556899T>A	ENST00000371418.4	+	8	1273	c.1013T>A	c.(1012-1014)tTc>tAc	p.F338Y	LGI1_ENST00000542308.1_Missense_Mutation_p.F290Y|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	338					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATTGAAACATTCAAGATTGAA	0.353																																						ENST00000371418.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(1012-1014)tTc>tAc		leucine-rich, glioma inactivated 1							82.0	81.0	81.0					10																	95556899		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95556899T>A	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1013T>A	10.37:g.95556899T>A	ENSP00000360472:p.Phe338Tyr					LGI1_ENST00000542308.1_Missense_Mutation_p.F290Y|LGI1_ENST00000371413.3_Intron	p.F338Y	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			8	1273	+		Colorectal(252;0.124)	338					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.1013T>A	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901835	0.72754	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	D;D	0.88046	-2.33;-2.33	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.92351	0.7573	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79108	0.991;0.992	D	0.93218	0.6606	10	0.87932	D	0	-14.0922	15.1922	0.73053	0.0:0.0:0.0:1.0	.	290;338	O95970-3;O95970	.;LGI1_HUMAN	Y	290;338	ENSP00000440763:F290Y;ENSP00000360472:F338Y	ENSP00000360472:F338Y	F	+	2	0	LGI1	95546889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.168000	0.68352	0.533000	0.62120	TTC		0.353	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		22	42	0	0	0	1	0	22	42				
CLDN16	10686	broad.mit.edu	37	3	190127816	190127816	+	Silent	SNP	A	A	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:190127816A>C	ENST00000264734.2	+	5	1157	c.909A>C	c.(907-909)acA>acC	p.T303T		NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	303					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTGTAGACACAAGGGTGTAAA	0.423																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(907-909)acA>acC		claudin 16							112.0	112.0	112.0					3																	190127816		2203	4300	6503	SO:0001819	synonymous_variant	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190127816A>C	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.909A>C	3.37:g.190127816A>C							p.T303T	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	5	1157	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		303						Silent	SNP	ENST00000264734.2	37	c.909A>C	CCDS3296.1																																																																																				0.423	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		29	48	0	0	0	1	0	29	48				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	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	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	28	0	0	0	1	0	8	28				
DDX39B	7919	broad.mit.edu	37	6	31508266	31508266	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:31508266T>C	ENST00000396172.1	-	2	674	c.44A>G	c.(43-45)gAt>gGt	p.D15G	SNORD84_ENST00000584275.1_RNA|DDX39B_ENST00000376177.2_Missense_Mutation_p.D15G|DDX39B_ENST00000417556.2_Missense_Mutation_p.D15G|DDX39B_ENST00000453105.2_Missense_Mutation_p.M11V|DDX39B-AS1_ENST00000420520.1_RNA|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000449074.2_Missense_Mutation_p.D15G|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|DDX39B_ENST00000458640.1_Missense_Mutation_p.D15G|DDX39B_ENST00000415382.2_Missense_Mutation_p.M11V|DDX39B-AS1_ENST00000416684.1_RNA	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	15					ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CACCTCATCATCTTCATAGTC	0.557																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(43-45)gAt>gGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B							91.0	82.0	85.0					6																	31508266		2203	4300	6503	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31508266T>C	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.44A>G	6.37:g.31508266T>C	ENSP00000379475:p.Asp15Gly					DDX39B_ENST00000458640.1_Missense_Mutation_p.D15G|DDX39B_ENST00000453105.2_Missense_Mutation_p.M11V|DDX39B_ENST00000449074.2_Missense_Mutation_p.D15G|DDX39B_ENST00000396172.1_Missense_Mutation_p.D15G|DDX39B_ENST00000376177.2_Missense_Mutation_p.D15G|DDX39B_ENST00000415382.2_Missense_Mutation_p.M11V|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR	p.D15G			Q13838	DX39B_HUMAN			2	674	-			15					B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.44A>G	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.108697|4.108697	0.77096|0.77096	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000427214;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000449074;ENST00000428450;ENST00000449757;ENST00000456976;ENST00000418897;ENST00000419020;ENST00000458215|ENST00000415382;ENST00000431908;ENST00000453105	T;T;T;T;T;T;T;T;T;T;T;T;T;T|T;T;T	0.44881|0.42513	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91|0.97;2.64;3.53	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.340994|.	0.29021|.	N|.	0.013394|.	T|T	0.28234|0.28234	0.0697|0.0697	M|M	0.84219|0.84219	2.685|2.685	0.58432|0.58432	D|D	0.999997|0.999997	B;B;B|B;B;B	0.30179|0.06786	0.2;0.271;0.012|0.001;0.001;0.0	B;B;B|B;B;B	0.35550|0.06405	0.167;0.205;0.013|0.002;0.002;0.0	T|T	0.30621|0.30621	-0.9972|-0.9972	10|9	0.87932|0.10636	D|T	0|0.68	-1.4994|-1.4994	13.6077|13.6077	0.62056|0.62056	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	35;15;15|11;11;11	Q59G92;Q13838;Q5STU3|B4DIZ8;B4DIJ6;B4DP52	.;DX39B_HUMAN;.|.;.;.	G|V	15;15;15;15;15;15;15;15;15;15;38;15;30;15;15|11	ENSP00000365347:D15G;ENSP00000416269:D15G;ENSP00000379475:D15G;ENSP00000412582:D15G;ENSP00000399371:D15G;ENSP00000392672:D15G;ENSP00000410313:D15G;ENSP00000416350:D15G;ENSP00000391946:D15G;ENSP00000405707:D15G;ENSP00000409426:D38G;ENSP00000393984:D15G;ENSP00000399841:D30G;ENSP00000405245:D15G|ENSP00000392669:M11V;ENSP00000408000:M11V;ENSP00000400328:M11V	ENSP00000365347:D15G|ENSP00000392669:M11V	D|M	-|-	2|1	0|0	DDX39B|DDX39B	31616245|31616245	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.984000|0.984000	0.73092|0.73092	7.448000|7.448000	0.80631|0.80631	2.095000|2.095000	0.63458|0.63458	0.460000|0.460000	0.39030|0.39030	GAT|ATG		0.557	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		8	80	0	0	0	1	0	8	80				
EPHA3	2042	broad.mit.edu	37	3	89390202	89390202	+	Silent	SNP	T	T	C	rs368359032		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:89390202T>C	ENST00000336596.2	+	4	1176	c.951T>C	c.(949-951)ccT>ccC	p.P317P	EPHA3_ENST00000494014.1_Silent_p.P317P|EPHA3_ENST00000452448.2_Silent_p.P317P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	317	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACAAAGACCCTCCATCCATGG	0.433										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(949-951)ccT>ccC		EPH receptor A3							154.0	154.0	154.0					3																	89390202		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390202T>C	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.951T>C	3.37:g.89390202T>C		TSP Lung(6;0.00050)				EPHA3_ENST00000452448.2_Silent_p.P317P|EPHA3_ENST00000494014.1_Silent_p.P317P	p.P317P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1176	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	317			Cys-rich.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.951T>C	CCDS2922.1																																																																																				0.433	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		64	80	0	0	0	1	0	64	80				
MYH8	4626	broad.mit.edu	37	17	10296215	10296215	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:10296215C>T	ENST00000403437.2	-	37	5490	c.5396G>A	c.(5395-5397)cGt>cAt	p.R1799H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1799					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCATCTAGACGATGCTGCAG	0.577									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5395-5397)cGt>cAt		myosin, heavy chain 8, skeletal muscle, perinatal							132.0	132.0	132.0					17																	10296215		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296215C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5396G>A	17.37:g.10296215C>T	ENSP00000384330:p.Arg1799His					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.R1799H	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			37	5490	-			1799					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5396G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163557	0.94727	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.82526	-1.62	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.42548	U	0.000684	D	0.90820	0.7117	H	0.96889	3.9	0.58432	D	0.999999	P	0.47106	0.89	P	0.44990	0.466	D	0.93951	0.7232	10	0.87932	D	0	.	18.6259	0.91338	0.0:1.0:0.0:0.0	.	1799	P13535	MYH8_HUMAN	H	1799	ENSP00000384330:R1799H	ENSP00000252173:R1799H	R	-	2	0	MYH8	10236940	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.567000	0.82357	2.643000	0.89663	0.650000	0.86243	CGT		0.577	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		4	171	0	0	0	1	0	4	171				
LRRC7	57554	broad.mit.edu	37	1	70509663	70509663	+	Silent	SNP	T	T	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:70509663T>G	ENST00000035383.5	+	20	3912	c.3882T>G	c.(3880-3882)gtT>gtG	p.V1294V	LRRC7_ENST00000310961.5_Intron|LRRC7_ENST00000415775.2_Silent_p.V578V	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1294						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAATACAGTTAACCTTGGCA	0.388																																						ENST00000035383.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3880-3882)gtT>gtG		leucine rich repeat containing 7							152.0	135.0	141.0					1																	70509663		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70509663T>G		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3882T>G	1.37:g.70509663T>G						LRRC7_ENST00000415775.2_Silent_p.V578V|LRRC7_ENST00000310961.5_Intron	p.V1294V	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN			20	3912	+			1294					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.3882T>G	CCDS645.1																																																																																				0.388	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		30	43	0	0	0	1	0	30	43				
FAT4	79633	broad.mit.edu	37	4	126402777	126402777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:126402777C>T	ENST00000394329.3	+	15	12713	c.12700C>T	c.(12700-12702)Cga>Tga	p.R4234*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R2475*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4234	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAAAGCTTACGAGGTGCCAT	0.443																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(12700-12702)Cga>Tga		FAT atypical cadherin 4							126.0	122.0	123.0					4																	126402777		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126402777C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12700C>T	4.37:g.126402777C>T	ENSP00000377862:p.Arg4234*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.R2475*	p.R4234*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			15	12713	+			4234			Laminin G-like 2.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.12700C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	52	19.177933	0.99916	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	4.91	0.672	0.17935	.	0.000000	0.30020	U	0.010602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	9.0756	0.36519	0.3699:0.3892:0.2408:0.0	.	.	.	.	X	4234;2475	.	ENSP00000335169:R2475X	R	+	1	2	FAT4	126622227	0.000000	0.05858	0.011000	0.14972	0.314000	0.28054	-0.226000	0.09139	0.078000	0.16900	0.585000	0.79938	CGA		0.443	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	87	0	0	0	1	0	11	87				
SCN3A	6328	broad.mit.edu	37	2	165970412	165970412	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:165970412G>C	ENST00000360093.3	-	20	4074	c.3583C>G	c.(3583-3585)Ctt>Gtt	p.L1195V	SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195V|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1195					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)	p.L1195I(1)		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)	GTTTTTCGAAGATTCCACCAG	0.343																																						ENST00000360093.3																			1	Substitution - Missense(1)	p.L1195I(1)	prostate(1)	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.(3583-3585)Ctt>Gtt		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						196.0	171.0	179.0					2																	165970412		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165970412G>C	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.3583C>G	2.37:g.165970412G>C	ENSP00000353206:p.Leu1195Val					SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146V|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195V	p.L1195V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			20	4074	-			1195					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3583C>G		.	.	.	.	.	.	.	.	.	.	G	16.55	3.156010	0.57259	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.51	5.51	0.81932	Sodium ion transport-associated (1);	0.000000	0.50627	D	0.000109	D	0.91164	0.7217	M	0.81682	2.555	0.80722	D	1	P;P;B;B;P	0.42039	0.769;0.474;0.419;0.419;0.672	B;B;B;B;P	0.46850	0.395;0.207;0.131;0.131;0.529	D	0.90932	0.4791	10	0.45353	T	0.12	.	13.6835	0.62502	0.0742:0.0:0.9258:0.0	.	1195;1146;1146;1146;1195	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	V	1195;1195;1146;1146	ENSP00000353206:L1195V;ENSP00000283254:L1195V;ENSP00000386726:L1146V;ENSP00000403348:L1146V	ENSP00000283254:L1195V	L	-	1	0	SCN3A	165678658	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.736000	0.68597	2.588000	0.87417	0.585000	0.79938	CTT		0.343	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		66	81	0	0	0	1	0	66	81				
WIPI1	55062	broad.mit.edu	37	17	66446947	66446947	+	Silent	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:66446947C>G	ENST00000262139.5	-	3	254	c.255G>C	c.(253-255)gtG>gtC	p.V85V	WIPI1_ENST00000546360.1_Silent_p.V3V|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	85					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGAAGTGATACACGTTCATCT	0.512																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(253-255)gtG>gtC		WD repeat domain, phosphoinositide interacting 1							222.0	184.0	197.0					17																	66446947		2203	4300	6503	SO:0001819	synonymous_variant	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66446947C>G		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.255G>C	17.37:g.66446947C>G						WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.V3V	p.V85V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			3	254	-			85					Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	c.255G>C	CCDS11677.1																																																																																				0.512	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		62	84	0	0	0	1	0	62	84				
GALNT1	2589	broad.mit.edu	37	18	33283593	33283593	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:33283593G>T	ENST00000269195.5	+	10	1622	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	GALNT1_ENST00000537549.1_Nonsense_Mutation_p.E447*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	507	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CCAACTCTGGGAGTATGACCC	0.368																																						ENST00000269195.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(1519-1521)Gag>Tag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							78.0	76.0	77.0					18																	33283593		2203	4300	6503	SO:0001587	stop_gained	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33283593G>T		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1519G>T	18.37:g.33283593G>T	ENSP00000269195:p.Glu507*					GALNT1_ENST00000537549.1_Nonsense_Mutation_p.E447*	p.E507*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			10	1622	+			507			Ricin B-type lectin.		Q86TJ7|Q9UM86	Nonsense_Mutation	SNP	ENST00000269195.5	37	c.1519G>T	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	40	8.401371	0.98796	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	.	.	.	5.72	5.72	0.89469	.	0.087840	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	17.3724	0.87382	0.0:0.0:1.0:0.0	.	.	.	.	X	507;507;447	.	ENSP00000269195:E507X	E	+	1	0	GALNT1	31537591	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.705000	0.92388	0.585000	0.79938	GAG		0.368	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		36	62	1	0	5.71845e-15	1	5.94719e-15	36	62				
RSPH14	27156	broad.mit.edu	37	22	23401887	23401887	+	Missense_Mutation	SNP	G	G	A	rs571048891		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr22:23401887G>A	ENST00000216036.4	-	7	996	c.800C>T	c.(799-801)gCg>gTg	p.A267V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		267								p.A267V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCCAGGGCCGCATACTTCCC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16582	0.0		0.001	False		,,,				2504	0.0					ENST00000216036.4																			1	Substitution - Missense(1)	p.A267V(1)	lung(1)	breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(799-801)gCg>gTg		rhabdoid tumor deletion region gene 1							57.0	54.0	55.0					22																	23401887		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23401887G>A																												ENST00000216036.4:c.800C>T	22.37:g.23401887G>A	ENSP00000216036:p.Ala267Val						p.A267V	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	996	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		267						Missense_Mutation	SNP	ENST00000216036.4	37	c.800C>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619464	0.66787	.	.	ENSG00000100218	ENST00000216036	T	0.50548	0.74	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.563321	0.18788	N	0.131143	T	0.48642	0.1511	M	0.62088	1.915	0.80722	D	1	D	0.53462	0.96	P	0.44394	0.448	T	0.45411	-0.9263	10	0.30078	T	0.28	-14.3509	14.3177	0.66463	0.0:0.0:1.0:0.0	.	267	Q9UHP6	RTDR1_HUMAN	V	267	ENSP00000216036:A267V	ENSP00000216036:A267V	A	-	2	0	RTDR1	21731887	0.515000	0.26210	0.505000	0.27651	0.518000	0.34316	2.724000	0.47285	2.543000	0.85770	0.655000	0.94253	GCG		0.632	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			4	96	0	0	0	1	0	4	96				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			4	104	0	0	0	1	0	4	104				
HTATSF1	27336	broad.mit.edu	37	X	135591290	135591290	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135591290G>C	ENST00000218364.4	+	7	1049	c.875G>C	c.(874-876)cGa>cCa	p.R292P	HTATSF1_ENST00000535601.1_Missense_Mutation_p.R292P	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	292	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAAGACCTTCGAGTAGAGTGT	0.388																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(874-876)cGa>cCa		HIV-1 Tat specific factor 1							148.0	127.0	134.0					X																	135591290		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135591290G>C	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.875G>C	X.37:g.135591290G>C	ENSP00000218364:p.Arg292Pro					HTATSF1_ENST00000218364.4_Missense_Mutation_p.R292P	p.R292P	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			8	1297	+	Acute lymphoblastic leukemia(192;0.000127)		292			RRM 2.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.875G>C	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.681574	0.88542	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.07800	3.16;3.16	5.78	4.92	0.64577	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.120355	0.64402	D	0.000020	T	0.45458	0.1343	H	0.98738	4.315	0.80722	D	1	P	0.50710	0.938	D	0.63877	0.919	T	0.66960	-0.5791	10	0.87932	D	0	-0.4452	14.1446	0.65341	0.0736:0.0:0.9264:0.0	.	292	O43719	HTSF1_HUMAN	P	292	ENSP00000442699:R292P;ENSP00000218364:R292P	ENSP00000218364:R292P	R	+	2	0	HTATSF1	135418956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.363000	0.73082	1.206000	0.43276	0.591000	0.81541	CGA		0.388	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		13	104	0	0	0	1	0	13	104				
ROR2	4920	broad.mit.edu	37	9	94486331	94486331	+	Silent	SNP	C	C	T	rs202010959	byFrequency	TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr9:94486331C>T	ENST00000375708.3	-	9	2643	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	815	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTAGAGCTGCGGCGGGGGCA	0.677													C|||	2	0.000399361	0.0	0.0014	5008	,	,		15141	0.0		0.0	False		,,,				2504	0.001					ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2443-2445)ccG>ccA		receptor tyrosine kinase-like orphan receptor 2							37.0	47.0	44.0					9																	94486331		2203	4298	6501	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486331C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2445G>A	9.37:g.94486331C>T						ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.P815P	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2643	-			815			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.2445G>A	CCDS6691.1																																																																																				0.677	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			11	36	0	0	0	1	0	11	36				
DYNC2H1	79659	broad.mit.edu	37	11	103058176	103058176	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr11:103058176C>T	ENST00000375735.2	+	43	7145	c.7001C>T	c.(7000-7002)aCt>aTt	p.T2334I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2334I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2334	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGAGCCAGACTTGCATGGTA	0.418																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(7000-7002)aCt>aTt		dynein, cytoplasmic 2, heavy chain 1							164.0	159.0	161.0					11																	103058176		1990	4155	6145	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103058176C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7001C>T	11.37:g.103058176C>T	ENSP00000364887:p.Thr2334Ile					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2334I	p.T2334I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	43	7145	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2334			AAA 3 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.7001C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831435	0.50845	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.35605	1.3;1.3	5.12	5.12	0.69794	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.32406	0.0828	L	0.37630	1.12	0.58432	D	0.999997	B;B	0.24186	0.099;0.081	B;B	0.25140	0.058;0.034	T	0.06570	-1.0819	9	0.22109	T	0.4	.	18.9356	0.92584	0.0:1.0:0.0:0.0	.	2334;2334	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	2334	ENSP00000364887:T2334I;ENSP00000381167:T2334I	ENSP00000364887:T2334I	T	+	2	0	DYNC2H1	102563386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.885000	0.63142	2.541000	0.85698	0.655000	0.94253	ACT		0.418	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		49	81	0	0	0	1	0	49	81				
SLC15A2	6565	broad.mit.edu	37	3	121634491	121634491	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:121634491C>G	ENST00000489711.1	+	7	1036	c.648C>G	c.(646-648)tgC>tgG	p.C216W	SLC15A2_ENST00000295605.2_Missense_Mutation_p.C185W	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	216					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAGAAGACTGCTATGCATTGG	0.398																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(646-648)tgC>tgG		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						186.0	170.0	175.0					3																	121634491		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121634491C>G	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.648C>G	3.37:g.121634491C>G	ENSP00000417085:p.Cys216Trp					SLC15A2_ENST00000295605.2_Missense_Mutation_p.C185W	p.C216W	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	7	1036	+			216					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.648C>G	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394075	0.62066	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.05855	3.38;3.38	5.93	-0.932	0.10435	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.18840	-1.0324	10	0.87932	D	0	-12.8982	11.0099	0.47657	0.0:0.5032:0.0:0.4968	.	185;216	B4E2A7;Q16348	.;S15A2_HUMAN	W	216;178;185	ENSP00000417085:C216W;ENSP00000295605:C185W	ENSP00000295605:C185W	C	+	3	2	SLC15A2	123117181	0.994000	0.37717	0.995000	0.50966	0.866000	0.49608	0.359000	0.20233	-0.101000	0.12219	-0.793000	0.03317	TGC		0.398	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		53	105	0	0	0	1	0	53	105				
SMURF2P1	107133516	broad.mit.edu	37	17	28935540	28935540	+	RNA	SNP	G	G	A	rs370997062		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:28935540G>A	ENST00000579301.1	+	0	391									SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1																		CGTTGTGTTCGTCTTTTTCCA	0.363																																						ENST00000578265.1																			0																																																			0							g.chr17:28935540G>A			17q11.2	2012-10-05			ENSG00000248121	ENSG00000248121			44402	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000132798		17.37:g.28935540G>A														0	193	+									RNA	SNP	ENST00000579301.1	37																																																																																						0.363	SMURF2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444254.1			4	39	0	0	0	1	0	4	39				
CDC27	996	broad.mit.edu	37	17	45199936	45199936	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:45199936C>T	ENST00000066544.3	-	18	2359	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	CDC27_ENST00000531206.1_Missense_Mutation_p.A762T|CDC27_ENST00000446365.2_Missense_Mutation_p.A695T|CDC27_ENST00000527547.1_Missense_Mutation_p.A755T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	756					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTCATCAGGGCGAGGTGCGTT	0.358																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(2266-2268)Gcc>Acc		cell division cycle 27							91.0	84.0	86.0					17																	45199936		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45199936C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2266G>A	17.37:g.45199936C>T	ENSP00000066544:p.Ala756Thr					CDC27_ENST00000527547.1_Missense_Mutation_p.A755T|CDC27_ENST00000531206.1_Missense_Mutation_p.A762T|CDC27_ENST00000446365.2_Missense_Mutation_p.A695T	p.A756T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			18	2359	-			756					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.2266G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501368	0.96371	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90307	0.6968	H	0.95151	3.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92677	0.6155	10	0.87932	D	0	-8.7964	16.5851	0.84725	0.0:1.0:0.0:0.0	.	695;755;762;756	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	T	756;762;695;755	ENSP00000066544:A756T;ENSP00000434614:A762T;ENSP00000392802:A695T;ENSP00000437339:A755T	ENSP00000066544:A756T	A	-	1	0	CDC27	42554935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.633000	0.83260	2.776000	0.95493	0.655000	0.94253	GCC		0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			30	68	0	0	0	1	0	30	68				
PDZRN4	29951	broad.mit.edu	37	12	41966618	41966618	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:41966618G>C	ENST00000402685.2	+	10	2045	c.2037G>C	c.(2035-2037)gaG>gaC	p.E679D	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E421D|PDZRN4_ENST00000298919.7_Missense_Mutation_p.E419D	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	679							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTGAGCTTGAGTGTCAGAATA	0.448																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1255-1257)gaG>gaC		PDZ domain containing ring finger 4							104.0	94.0	98.0					12																	41966618		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966618G>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2037G>C	12.37:g.41966618G>C	ENSP00000384197:p.Glu679Asp					PDZRN4_ENST00000539469.2_Missense_Mutation_p.E421D|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E679D	p.E419D			Q6ZMN7	PZRN4_HUMAN			10	1645	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	679			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1257G>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623361	0.46840	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.74526	-0.85;3.64;3.64	4.49	1.63	0.23807	.	0.073229	0.56097	N	0.000036	T	0.81230	0.4779	M	0.72118	2.19	0.49299	D	0.999779	D;D;D	0.76494	0.999;0.991;0.984	D;D;D	0.69824	0.955;0.966;0.932	T	0.78064	-0.2350	10	0.54805	T	0.06	-34.0047	7.4648	0.27316	0.5254:0.0:0.4746:0.0	.	679;419;421	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	D	679;421;419	ENSP00000384197:E679D;ENSP00000439990:E421D;ENSP00000298919:E419D	ENSP00000298919:E419D	E	+	3	2	PDZRN4	40252885	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	0.599000	0.24089	0.227000	0.20999	0.650000	0.86243	GAG		0.448	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		24	38	0	0	0	1	0	24	38				
ZWINT	11130	broad.mit.edu	37	10	58118576	58118576	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:58118576T>G	ENST00000373944.3	-	6	651	c.613A>C	c.(613-615)Aag>Cag	p.K205Q	ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Missense_Mutation_p.K85Q|ZWINT_ENST00000395405.1_Missense_Mutation_p.K205Q			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	205					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTCTGCAGCTTGTCCCGCTCC	0.522																																						ENST00000373944.3																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						c.(613-615)Aag>Cag		ZW10 interacting kinetochore protein							137.0	131.0	133.0					10																	58118576		2203	4300	6503	SO:0001583	missense	0				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58118576T>G	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.613A>C	10.37:g.58118576T>G	ENSP00000363055:p.Lys205Gln					ZWINT_ENST00000395405.1_Missense_Mutation_p.K205Q|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000318387.2_Missense_Mutation_p.K85Q	p.K205Q			O95229	ZWINT_HUMAN			6	651	-			205					A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.613A>C	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966010	0.34659	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000318387	T;T;T	0.52754	0.65;0.65;0.65	4.48	3.31	0.37934	.	0.271361	0.26594	N	0.023517	T	0.41119	0.1145	L	0.50333	1.59	0.24048	N	0.996059	P	0.46912	0.886	B	0.42593	0.392	T	0.34950	-0.9808	10	0.66056	D	0.02	-9.333	8.1796	0.31302	0.0:0.0:0.2031:0.7969	.	205	O95229	ZWINT_HUMAN	Q	205;205;85	ENSP00000363055:K205Q;ENSP00000378801:K205Q;ENSP00000322850:K85Q	ENSP00000322850:K85Q	K	-	1	0	ZWINT	57788582	0.887000	0.30362	0.796000	0.32109	0.067000	0.16453	1.039000	0.30266	1.004000	0.39156	0.533000	0.62120	AAG		0.522	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			17	91	0	0	0	1	0	17	91				
E2F5	1875	broad.mit.edu	37	8	86115377	86115377	+	Silent	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr8:86115377A>G	ENST00000416274.2	+	3	427	c.393A>G	c.(391-393)agA>agG	p.R131R	E2F5_ENST00000418930.2_Silent_p.R131R|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Silent_p.R131R|E2F5_ENST00000521429.1_5'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	131	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATAGATTAAGATATCTTAAAG	0.343																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(391-393)agA>agG		E2F transcription factor 5, p130-binding							55.0	52.0	53.0					8																	86115377		1844	4096	5940	SO:0001819	synonymous_variant	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86115377A>G	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.393A>G	8.37:g.86115377A>G						E2F5_ENST00000416274.2_Silent_p.R131R|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.R131R	p.R131R			Q15329	E2F5_HUMAN			3	589	+			131			Dimerization (Potential).		E9PBN9|Q16601|Q92756	Silent	SNP	ENST00000416274.2	37	c.393A>G	CCDS47885.1																																																																																				0.343	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		8	12	0	0	0	1	0	8	12				
GATA3	2625	broad.mit.edu	37	10	8100475	8100475	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:8100475T>C	ENST00000346208.3	+	3	904	c.449T>C	c.(448-450)cTc>cCc	p.L150P	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.L150P			P23771	GATA3_HUMAN	GATA binding protein 3	150					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCCGCACCTCTTCACCTTC	0.721			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															ENST00000379328.3				Rec	yes		10	10p15	2625	"""F, N, S"""	GATA binding protein 3	yes	"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(448-450)cTc>cCc		GATA binding protein 3							33.0	42.0	39.0					10																	8100475		2202	4299	6501	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100475T>C	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.449T>C	10.37:g.8100475T>C	ENSP00000341619:p.Leu150Pro					GATA3_ENST00000346208.3_Missense_Mutation_p.L150P|GATA3_ENST00000461472.1_3'UTR	p.L150P	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			3	1017	+			150					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.449T>C	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111166	0.77210	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.97352	-4.35;-4.33	5.55	5.55	0.83447	.	0.071235	0.64402	D	0.000005	D	0.98340	0.9449	M	0.85542	2.76	0.80722	D	1	D;D	0.56521	0.964;0.976	P;D	0.63488	0.621;0.915	D	0.99285	1.0897	10	0.72032	D	0.01	-25.0286	15.6961	0.77499	0.0:0.0:0.0:1.0	.	150;150	P23771;P23771-2	GATA3_HUMAN;.	P	150	ENSP00000368632:L150P;ENSP00000341619:L150P	ENSP00000341619:L150P	L	+	2	0	GATA3	8140481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.134000	0.71689	2.107000	0.64212	0.459000	0.35465	CTC		0.721	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		13	30	0	0	0	1	0	13	30				
GALNT1	2589	broad.mit.edu	37	18	33283583	33283583	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:33283583C>G	ENST00000269195.5	+	10	1612	c.1509C>G	c.(1507-1509)aaC>aaG	p.N503K	GALNT1_ENST00000537549.1_Missense_Mutation_p.N443K	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	503	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.N503N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAAAAGGCAACCAACTCTGGG	0.373																																						ENST00000269195.5																			1	Substitution - coding silent(1)	p.N503N(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(1507-1509)aaC>aaG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							87.0	85.0	86.0					18																	33283583		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33283583C>G		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.1509C>G	18.37:g.33283583C>G	ENSP00000269195:p.Asn503Lys					GALNT1_ENST00000537549.1_Missense_Mutation_p.N443K	p.N503K	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			10	1612	+			503			Ricin B-type lectin.		Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.1509C>G	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376435	0.61735	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.80393	-1.37;-1.37	5.72	3.93	0.45458	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.88031	2.925	0.80722	D	1	P	0.46952	0.887	B	0.44224	0.444	T	0.82900	-0.0228	10	0.52906	T	0.07	.	7.0658	0.25151	0.0:0.7429:0.0:0.2571	.	503	Q10472	GALT1_HUMAN	K	503;503;443	ENSP00000269195:N503K;ENSP00000440910:N443K	ENSP00000269195:N503K	N	+	3	2	GALNT1	31537581	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.157000	0.31724	1.424000	0.47217	0.585000	0.79938	AAC		0.373	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		37	66	0	0	0	1	0	37	66				
EMP2	2013	broad.mit.edu	37	16	10631921	10631921	+	Silent	SNP	C	C	T	rs61731468	byFrequency	TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr16:10631921C>T	ENST00000359543.3	-	4	389	c.180G>A	c.(178-180)acG>acA	p.T60T	EMP2_ENST00000536829.1_Silent_p.T60T	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	60					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)	p.T60T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CCGCCTGCAGCGTGGAGTACT	0.622													C|||	4	0.000798722	0.0	0.0	5008	,	,		17777	0.004		0.0	False		,,,				2504	0.0				GBM(158;2021 2691 14714 39478)	ENST00000359543.3																			1	Substitution - coding silent(1)	p.T60T(1)	large_intestine(1)	NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(178-180)acG>acA		epithelial membrane protein 2		C		1,4393	2.1+/-5.4	0,1,2196	125.0	114.0	117.0		180	-6.2	0.0	16	dbSNP_129	117	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	EMP2	NM_001424.4		0,9,6488	TT,TC,CC		0.093,0.0228,0.0693		60/168	10631921	9,12985	2197	4300	6497	SO:0001819	synonymous_variant	2013				cell proliferation	integral to membrane		g.chr16:10631921C>T	U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.180G>A	16.37:g.10631921C>T						EMP2_ENST00000536829.1_Silent_p.T60T	p.T60T	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN			4	389	-			60					B2R7V6|D3DUF8	Silent	SNP	ENST00000359543.3	37	c.180G>A	CCDS10541.1																																																																																				0.622	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1	NM_001424		4	93	0	0	0	1	0	4	93				
OR10G2	26534	broad.mit.edu	37	14	22102379	22102379	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:22102379T>C	ENST00000542433.1	-	1	717	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TACCCTGACGTCCACAAAGGT	0.522																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(619-621)gAc>gGc		olfactory receptor, family 10, subfamily G, member 2							70.0	77.0	74.0					14																	22102379		2203	4299	6502	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102379T>C		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.620A>G	14.37:g.22102379T>C	ENSP00000445383:p.Asp207Gly						p.D207G	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	717	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	207					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.620A>G	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233494	0.39498	.	.	ENSG00000255582	ENST00000542433	T	0.00084	8.75	3.78	3.78	0.43462	GPCR, rhodopsin-like superfamily (1);	0.129137	0.34603	N	0.003830	T	0.00241	0.0007	N	0.16708	0.43	0.28161	N	0.928976	D	0.89917	1.0	D	0.97110	1.0	T	0.62291	-0.6885	10	0.87932	D	0	-9.6432	10.4989	0.44794	0.0:0.0:0.0:1.0	.	207	Q8NGC3	O10G2_HUMAN	G	207	ENSP00000445383:D207G	ENSP00000445383:D207G	D	-	2	0	OR10G2	21172219	0.000000	0.05858	1.000000	0.80357	0.653000	0.38743	-0.171000	0.09883	1.582000	0.49881	0.455000	0.32223	GAC		0.522	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			22	22	0	0	0	1	0	22	22				
UGT2A3	79799	broad.mit.edu	37	4	69817371	69817371	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:69817371C>A	ENST00000251566.4	-	1	138	c.108G>T	c.(106-108)tgG>tgT	p.W36C	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	36					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACATTAAGCCAATGGCTCA	0.473																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(106-108)tgG>tgT		UDP glucuronosyltransferase 2 family, polypeptide A3							78.0	75.0	76.0					4																	69817371		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69817371C>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.108G>T	4.37:g.69817371C>A	ENSP00000251566:p.Trp36Cys						p.W36C	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			1	138	-			36					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.108G>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234119	0.58886	.	.	ENSG00000135220	ENST00000251566	T	0.64991	-0.13	4.61	4.61	0.57282	.	0.148824	0.48767	D	0.000173	D	0.85557	0.5724	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90348	0.4364	10	0.87932	D	0	.	14.9692	0.71220	0.0:1.0:0.0:0.0	.	36	Q6UWM9	UD2A3_HUMAN	C	36	ENSP00000251566:W36C	ENSP00000251566:W36C	W	-	3	0	UGT2A3	69851960	1.000000	0.71417	0.837000	0.33122	0.572000	0.35998	6.149000	0.71795	2.397000	0.81536	0.491000	0.48974	TGG		0.473	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		14	75	1	0	0.000308642	1	0.000314694	14	75				
MYH1	4619	broad.mit.edu	37	17	10411733	10411733	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:10411733G>A	ENST00000226207.5	-	16	1938	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	615	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCATTGCAGACTTCTGGTA	0.458																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1843-1845)tCt>tTt		myosin, heavy chain 1, skeletal muscle, adult							76.0	76.0	76.0					17																	10411733		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10411733G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1844C>T	17.37:g.10411733G>A	ENSP00000226207:p.Ser615Phe					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.S615F	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			16	1938	-			615			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1844C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683370	0.68157	.	.	ENSG00000109061	ENST00000226207	D	0.91011	-2.77	4.89	3.9	0.45041	Myosin head, motor domain (2);	0.000000	0.42053	U	0.000761	D	0.97402	0.9150	H	0.99498	4.595	0.58432	D	0.999996	P	0.50819	0.939	D	0.64877	0.93	D	0.99226	1.0880	10	0.87932	D	0	.	15.5888	0.76510	0.0:0.1381:0.8619:0.0	.	615	P12882	MYH1_HUMAN	F	615	ENSP00000226207:S615F	ENSP00000226207:S615F	S	-	2	0	MYH1	10352458	1.000000	0.71417	0.878000	0.34440	0.439000	0.31926	6.150000	0.71801	1.397000	0.46682	0.650000	0.86243	TCT		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		26	139	0	0	0	1	0	26	139				
PRDM9	56979	broad.mit.edu	37	5	23526454	23526454	+	Silent	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:23526454A>G	ENST00000296682.3	+	11	1439	c.1257A>G	c.(1255-1257)ccA>ccG	p.P419P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	419					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCCAGGACCATCTGCAAGAA	0.478										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1255-1257)ccA>ccG		PR domain containing 9							119.0	113.0	115.0					5																	23526454		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526454A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1257A>G	5.37:g.23526454A>G		HNSCC(3;0.000094)					p.P419P	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1439	+			419					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1257A>G	CCDS43307.1																																																																																				0.478	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		28	51	0	0	0	1	0	28	51				
NFKBIA	4792	broad.mit.edu	37	14	35873813	35873813	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:35873813A>C	ENST00000216797.5	-	1	139	c.38T>G	c.(37-39)aTg>aGg	p.M13R	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.M13R|NFKBIA_ENST00000557389.1_5'Flank	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	13					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	GGGGCCCTCCATGGCCCACTC	0.716																																						ENST00000216797.5																			0				breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7						c.(37-39)aTg>aGg		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha							8.0	8.0	8.0					14																	35873813		2183	4277	6460	SO:0001583	missense	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35873813A>C		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.38T>G	14.37:g.35873813A>C	ENSP00000216797:p.Met13Arg					NFKBIA_ENST00000557140.1_Missense_Mutation_p.M13R|NFKBIA_ENST00000557100.1_5'UTR	p.M13R	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	1	139	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		13					B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	c.38T>G	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085142	0.55861	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000553342	D;D;D	0.82255	-1.59;-1.59;-1.59	3.34	3.34	0.38264	.	.	.	.	.	T	0.70798	0.3265	N	0.17082	0.46	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.68727	-0.5332	9	0.59425	D	0.04	-26.615	12.1705	0.54155	1.0:0.0:0.0:0.0	.	13;13	G3V3I4;P25963	.;IKBA_HUMAN	R	13	ENSP00000216797:M13R;ENSP00000451257:M13R;ENSP00000451281:M13R	ENSP00000216797:M13R	M	-	2	0	NFKBIA	34943564	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	0.988000	0.29616	1.510000	0.48803	0.260000	0.18958	ATG		0.716	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		6	5	0	0	0	1	0	6	5				
NFE2L2	4780	broad.mit.edu	37	2	178097223	178097223	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:178097223G>C	ENST00000397062.3	-	4	1045	c.491C>G	c.(490-492)tCa>tGa	p.S164*	NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.S141*|NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.S148*|NFE2L2_ENST00000423513.1_3'UTR|NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.S148*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	164					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGTTTCAGGTGACTGAGCCTG	0.448			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(490-492)tCa>tGa		nuclear factor, erythroid 2-like 2							73.0	69.0	70.0					2																	178097223		1914	4121	6035	SO:0001587	stop_gained	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178097223G>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.491C>G	2.37:g.178097223G>C	ENSP00000380252:p.Ser164*	HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.S148*|NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.S141*|NFE2L2_ENST00000423513.1_3'UTR|NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.S148*	p.S164*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		4	1045	-			164					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Nonsense_Mutation	SNP	ENST00000397062.3	37	c.491C>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	39	7.304958	0.98200	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929	.	.	.	5.94	4.06	0.47325	.	0.685815	0.12887	N	0.430936	.	.	.	.	.	.	0.51767	D	0.99993	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.9572	0.52988	0.0662:0.0:0.8102:0.1236	.	.	.	.	X	148;164;141;148;148	.	ENSP00000380252:S164X	S	-	2	0	NFE2L2	177805469	0.771000	0.28555	0.818000	0.32626	0.226000	0.24999	3.175000	0.50855	2.826000	0.97356	0.561000	0.74099	TCA		0.448	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		31	15	0	0	0	1	0	31	15				
FAT4	79633	broad.mit.edu	37	4	126369874	126369874	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:126369874G>C	ENST00000394329.3	+	9	7716	c.7703G>C	c.(7702-7704)aGa>aCa	p.R2568T	FAT4_ENST00000335110.5_Missense_Mutation_p.R866T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2568	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTAAAGTGAGAGCCAAAGAA	0.413																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7702-7704)aGa>aCa		FAT atypical cadherin 4							76.0	74.0	75.0					4																	126369874		2203	4299	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126369874G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7703G>C	4.37:g.126369874G>C	ENSP00000377862:p.Arg2568Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.R866T	p.R2568T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	7716	+			2568			Cadherin 25.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7703G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333998	0.24253	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01725	4.67;4.67	6.16	5.33	0.75918	Cadherin (2);Cadherin-like (1);	0.565611	0.13385	U	0.391853	T	0.01124	0.0037	N	0.08118	0	0.30680	N	0.752461	P;P;B	0.38504	0.634;0.501;0.372	B;B;B	0.33620	0.167;0.081;0.08	T	0.44283	-0.9338	10	0.14252	T	0.57	.	10.0656	0.42301	0.188:0.0:0.812:0.0	.	866;2568;2568	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	2568;866	ENSP00000377862:R2568T;ENSP00000335169:R866T	ENSP00000335169:R866T	R	+	2	0	FAT4	126589324	1.000000	0.71417	0.976000	0.42696	0.990000	0.78478	2.304000	0.43655	1.630000	0.50440	0.650000	0.86243	AGA		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		19	42	0	0	0	1	0	19	42				
MATR3	9782	broad.mit.edu	37	5	138657690	138657690	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:138657690C>G	ENST00000394805.3	+	10	2041	c.1706C>G	c.(1705-1707)tCt>tGt	p.S569C	MATR3_ENST00000509990.1_Missense_Mutation_p.S569C|MATR3_ENST00000503811.1_Missense_Mutation_p.S281C|MATR3_ENST00000394800.2_Missense_Mutation_p.S569C|MATR3_ENST00000504203.1_Missense_Mutation_p.S231C|MATR3_ENST00000502929.1_Missense_Mutation_p.S569C|MATR3_ENST00000502499.1_Missense_Mutation_p.S231C|MATR3_ENST00000361059.2_Missense_Mutation_p.S569C|MATR3_ENST00000510056.1_Missense_Mutation_p.S569C	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	569	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTGACCTGTCTGAGAAATAT	0.348																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1705-1707)tCt>tGt		matrin 3							137.0	137.0	137.0					5																	138657690		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138657690C>G	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1706C>G	5.37:g.138657690C>G	ENSP00000378284:p.Ser569Cys					MATR3_ENST00000510056.1_Missense_Mutation_p.S569C|MATR3_ENST00000509990.1_Missense_Mutation_p.S569C|MATR3_ENST00000502929.1_Missense_Mutation_p.S569C|MATR3_ENST00000503811.1_Missense_Mutation_p.S281C|MATR3_ENST00000502499.1_Missense_Mutation_p.S231C|MATR3_ENST00000394805.3_Missense_Mutation_p.S569C|MATR3_ENST00000361059.2_Missense_Mutation_p.S569C|MATR3_ENST00000504203.1_Missense_Mutation_p.S231C	p.S569C			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		14	2255	+			569			RRM 2.		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.1706C>G	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.54|19.54	3.847133|3.847133	0.71603|0.71603	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000515833|ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811	.|T;T;T;T;T;T;T;T;T	.|0.80304	.|-1.29;-1.29;-0.83;-1.36;-1.36;-1.29;-0.83;-1.35;-0.93	5.09|5.09	5.09|5.09	0.68999|0.68999	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.101356	.|0.64402	.|D	.|0.000001	D|D	0.89487|0.89487	0.6729|0.6729	M|M	0.76328|0.76328	2.33|2.33	0.52501|0.52501	D|D	0.99995|0.99995	.|D;D;D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999;0.992;0.999	.|D;D;D;D;D;D	.|0.85130	.|0.997;0.996;0.997;0.996;0.991;0.996	D|D	0.88764|0.88764	0.3259|0.3259	5|10	.|0.41790	.|T	.|0.15	-7.7449|-7.7449	18.8887|18.8887	0.92389|0.92389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|281;569;281;569;569;569	.|B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243	.|.;.;.;.;.;MATR3_HUMAN	V|C	329|569;569;231;569;569;569;231;569;281	.|ENSP00000423533:S569C;ENSP00000354346:S569C;ENSP00000421218:S231C;ENSP00000422319:S569C;ENSP00000378279:S569C;ENSP00000378284:S569C;ENSP00000426030:S231C;ENSP00000426743:S569C;ENSP00000423587:S281C	.|ENSP00000354346:S569C	L|S	+|+	1|2	2|0	MATR3|MATR3	138685589|138685589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.608000|5.608000	0.67654|0.67654	2.522000|2.522000	0.85027|0.85027	0.557000|0.557000	0.71058|0.71058	CTG|TCT		0.348	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		33	55	0	0	0	1	0	33	55				
LPHN3	23284	broad.mit.edu	37	4	62599060	62599060	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:62599060A>G	ENST00000514591.1	+	7	1312	c.983A>G	c.(982-984)gAg>gGg	p.E328G	LPHN3_ENST00000508693.1_Missense_Mutation_p.E396G|LPHN3_ENST00000506720.1_Missense_Mutation_p.E396G|LPHN3_ENST00000508946.1_Missense_Mutation_p.E328G|LPHN3_ENST00000511324.1_Missense_Mutation_p.E396G|LPHN3_ENST00000506700.1_Missense_Mutation_p.E328G|LPHN3_ENST00000504896.1_Missense_Mutation_p.E328G|LPHN3_ENST00000509896.1_Missense_Mutation_p.E396G|LPHN3_ENST00000545650.1_Missense_Mutation_p.E328G|LPHN3_ENST00000507164.1_Missense_Mutation_p.E396G|LPHN3_ENST00000507625.1_Missense_Mutation_p.E396G|LPHN3_ENST00000506746.1_Missense_Mutation_p.E396G|LPHN3_ENST00000512091.2_Missense_Mutation_p.E328G|LPHN3_ENST00000514996.1_Missense_Mutation_p.E328G|LPHN3_ENST00000514157.1_Missense_Mutation_p.E328G			Q9HAR2	LPHN3_HUMAN	latrophilin 3	328	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCTGTATATGAGGATGATGAC	0.388																																						ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(982-984)gAg>gGg		latrophilin 3							114.0	101.0	105.0					4																	62599060		1935	4139	6074	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62599060A>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.983A>G	4.37:g.62599060A>G	ENSP00000422533:p.Glu328Gly					LPHN3_ENST00000506746.1_Missense_Mutation_p.E396G|LPHN3_ENST00000507625.1_Missense_Mutation_p.E396G|LPHN3_ENST00000504896.1_Missense_Mutation_p.E328G|LPHN3_ENST00000514591.1_Missense_Mutation_p.E328G|LPHN3_ENST00000508693.1_Missense_Mutation_p.E396G|LPHN3_ENST00000506720.1_Missense_Mutation_p.E396G|LPHN3_ENST00000514157.1_Missense_Mutation_p.E328G|LPHN3_ENST00000545650.1_Missense_Mutation_p.E328G|LPHN3_ENST00000506700.1_Missense_Mutation_p.E328G|LPHN3_ENST00000509896.1_Missense_Mutation_p.E396G|LPHN3_ENST00000508946.1_Missense_Mutation_p.E328G|LPHN3_ENST00000507164.1_Missense_Mutation_p.E396G|LPHN3_ENST00000511324.1_Missense_Mutation_p.E396G|LPHN3_ENST00000514996.1_Missense_Mutation_p.E328G	p.E328G			Q9HAR2	LPHN3_HUMAN			7	1730	+			328			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.983A>G	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513189	0.64522	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.93674	0.7979	L	0.53249	1.67	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;0.989	D;D;D	0.83275	0.996;0.996;0.979	D	0.93862	0.7154	10	0.54805	T	0.06	.	14.4261	0.67218	1.0:0.0:0.0:0.0	.	328;396;328	E9PE04;E7EN28;Q9HAR2-2	.;.;.	G	328;328;396;396;328;328;328;328;328;396;396;396;328;328;328;396;396;328	ENSP00000423388:E328G;ENSP00000422533:E328G;ENSP00000423787:E396G;ENSP00000425033:E396G;ENSP00000424120:E328G;ENSP00000439831:E328G;ENSP00000421476:E396G;ENSP00000424030:E396G;ENSP00000421372:E396G;ENSP00000425201:E328G;ENSP00000423434:E328G;ENSP00000421627:E328G;ENSP00000420931:E396G;ENSP00000425884:E396G;ENSP00000424258:E328G	ENSP00000280009:E328G	E	+	2	0	LPHN3	62281655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	1.999000	0.58509	0.455000	0.32223	GAG		0.388	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	34	0	0	0	1	0	4	34				
PRB1	5542	broad.mit.edu	37	12	11507489	11507489	+	Splice_Site	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:11507489C>G	ENST00000500254.2	-	2	102		c.e2-1		PRB1_ENST00000545626.1_Splice_Site|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)		p.?(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTGACATCTAGAAGAGAA	0.438																																						ENST00000500254.2																			1	Unknown(1)	p.?(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.e2-1		proline-rich protein BstNI subfamily 1							186.0	175.0	179.0					12																	11507489		2179	4277	6456	SO:0001630	splice_region_variant	5542					extracellular region		g.chr12:11507489C>G		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.65-1G>C	12.37:g.11507489C>G						PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Splice_Site		NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		2	102	-								Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Splice_Site	SNP	ENST00000500254.2	37		CCDS8642.1	.	.	.	.	.	.	.	.	.	.	C	3.394	-0.123589	0.06795	.	.	ENSG00000251655	ENST00000545626;ENST00000500254	.	.	.	1.7	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.22127	N	0.999342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9445	0.24510	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRB1	11398756	0.346000	0.24844	0.098000	0.21074	0.006000	0.05464	1.273000	0.33121	1.265000	0.44215	0.558000	0.71614	.		0.438	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039	Intron	67	196	0	0	0	1	0	67	196				
FCRL1	115350	broad.mit.edu	37	1	157768008	157768008	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:157768008C>G	ENST00000368176.3	-	8	1124	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	FCRL1_ENST00000491942.1_Missense_Mutation_p.E353Q|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.E314Q	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	353						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGGTGAACTCTTGGGGTAGA	0.493																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(940-942)Gag>Cag		Fc receptor-like 1							117.0	113.0	114.0					1																	157768008		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157768008C>G	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1057G>C	1.37:g.157768008C>G	ENSP00000357158:p.Glu353Gln					FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.E353Q|FCRL1_ENST00000491942.1_Missense_Mutation_p.E353Q	p.E314Q	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		7	991	-	all_hematologic(112;0.0378)		353					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.940G>C	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394643	0.25205	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.44881	0.91;0.92;0.92	4.79	2.85	0.33270	.	6.214200	0.00166	N	0.000000	T	0.14570	0.0352	N	0.25992	0.78	0.09310	N	1	B;B;B	0.31227	0.077;0.314;0.046	B;B;B	0.26969	0.066;0.075;0.03	T	0.18335	-1.0340	10	0.29301	T	0.29	.	11.3386	0.49520	0.0:0.644:0.356:0.0	.	314;353;353	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	Q	314;353;353	ENSP00000351039:E314Q;ENSP00000357158:E353Q;ENSP00000418130:E353Q	ENSP00000351039:E314Q	E	-	1	0	FCRL1	156034632	0.086000	0.21541	0.070000	0.20053	0.171000	0.22731	0.302000	0.19192	0.691000	0.31592	0.591000	0.81541	GAG		0.493	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		8	29	0	0	0	1	0	8	29				
FLT4	2324	broad.mit.edu	37	5	180038441	180038441	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:180038441C>G	ENST00000261937.6	-	27	3654	c.3576G>C	c.(3574-3576)caG>caC	p.Q1192H	FLT4_ENST00000393347.3_Missense_Mutation_p.Q1192H|FLT4_ENST00000502649.1_Missense_Mutation_p.Q1192H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1192					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCTGAGCTCTGAGAGCTGC	0.672																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3574-3576)caG>caC		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						66.0	70.0	69.0					5																	180038441		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180038441C>G	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3576G>C	5.37:g.180038441C>G	ENSP00000261937:p.Gln1192His					FLT4_ENST00000502649.1_Missense_Mutation_p.Q1192H|FLT4_ENST00000393347.3_Missense_Mutation_p.Q1192H	p.Q1192H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	27	3654	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1192					A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3576G>C	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	5.486	0.274689	0.10403	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77620	-1.11;-1.11;-1.11	4.48	0.549	0.17213	.	.	.	.	.	T	0.53578	0.1805	N	0.08118	0	0.44048	D	0.996786	B;B	0.15930	0.015;0.007	B;B	0.15484	0.013;0.008	T	0.28459	-1.0043	9	0.39692	T	0.17	.	5.5004	0.16825	0.0:0.4591:0.2907:0.2501	.	1192;1192	E9PD35;P35916	.;VGFR3_HUMAN	H	1192	ENSP00000261937:Q1192H;ENSP00000377016:Q1192H;ENSP00000426057:Q1192H	ENSP00000261937:Q1192H	Q	-	3	2	FLT4	179971047	0.999000	0.42202	0.978000	0.43139	0.586000	0.36452	0.498000	0.22530	-0.014000	0.14175	0.555000	0.69702	CAG		0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			40	18	0	0	0	1	0	40	18				
DIP2C	22982	broad.mit.edu	37	10	735479	735479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:735479delC	ENST00000280886.6	-	1	127	c.40delG	c.(40-42)gagfs	p.E14fs		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	14	DMAP-interaction.					nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCCCGCACCTCCAGGGGCAGC	0.791																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(40-42)agfs		DIP2 disco-interacting protein 2 homolog C (Drosophila)							3.0	3.0	3.0					10																	735479		1456	3171	4627	SO:0001589	frameshift_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:735479delC	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.40delG	10.37:g.735479delC	ENSP00000280886:p.Glu14fs						p.E14fs	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	1	127	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	14					B4DPI5|Q5SS78	Frame_Shift_Del	DEL	ENST00000280886.6	37	c.40delG	CCDS7054.1																																																																																				0.791	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		2	4						2	4	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs398102300|rs75456529	byFrequency	TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)tttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													|||unknown(NO_COVERAGE)	81	0.0161741	0.0	0.0	5008	,	,		20060	0.0724		0.002	False		,,,				2504	0.0061					ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(298-300)ttfs		olfactory receptor, family 6, subfamily C, member 75				2,4262		0,2,2130	132.0	126.0	128.0			-5.1	0.0	12	dbSNP_131	128	4,8250		0,4,4123	no	frameshift	OR6C75	NM_001005497.1		0,6,6253	A1A1,A1R,RR		0.0485,0.0469,0.0479			55759192	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759192delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.298delT	12.37:g.55759192delT	ENSP00000368987:p.Phe102fs						p.F102fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	298	+			102						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.298delT	CCDS31820.1																																																																																				0.438	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			8	236						8	236	---	---	---	---
