#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
BLMH	642	broad.mit.edu	37	17	28618498	28618498	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:28618498C>T	ENST00000261714.6	-	2	216	c.42G>A	c.(40-42)ctG>ctA	p.L14L	BLMH_ENST00000394819.3_5'UTR	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	14					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	GTTTCTGTATCAGAGCAGCTA	0.567																																					Pancreas(127;628 1772 12912 33293 36203)	ENST00000261714.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						c.(40-42)ctG>ctA		bleomycin hydrolase							93.0	96.0	95.0					17																	28618498		2203	4300	6503	SO:0001819	synonymous_variant	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28618498C>T	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.42G>A	17.37:g.28618498C>T						BLMH_ENST00000394819.3_5'UTR	p.L14L	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN			2	216	-			14					B2R796|Q53F86|Q9UER9	Silent	SNP	ENST00000261714.6	37	c.42G>A	CCDS32604.1																																																																																				0.567	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		49	61	0	0	0	1	0	49	61				
TTC16	158248	broad.mit.edu	37	9	130493404	130493404	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:130493404G>A	ENST00000373289.3	+	14	2422	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	TOR2A_ENST00000472723.1_5'Flank|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	781										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GCTCGTGGCCGGAGCTGGAGA	0.622																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(2341-2343)cGg>cAg		tetratricopeptide repeat domain 16							27.0	24.0	25.0					9																	130493404		2198	4297	6495	SO:0001583	missense	158248						binding	g.chr9:130493404G>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.2342G>A	9.37:g.130493404G>A	ENSP00000362386:p.Arg781Gln					TTC16_ENST00000489226.1_3'UTR	p.R781Q	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			14	2422	+			781					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.2342G>A	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315492	0.23908	.	.	ENSG00000167094	ENST00000373289	T	0.32023	1.47	4.32	-3.37	0.04898	.	1.590540	0.03903	N	0.280564	T	0.15435	0.0372	N	0.21194	0.64	0.09310	N	1	B;B	0.18166	0.009;0.026	B;B	0.08055	0.003;0.003	T	0.18967	-1.0320	10	0.06099	T	0.92	-1.18	5.0623	0.14564	0.61:0.0:0.2366:0.1534	.	768;781	B4DZ42;Q8NEE8	.;TTC16_HUMAN	Q	781	ENSP00000362386:R781Q	ENSP00000362386:R781Q	R	+	2	0	TTC16	129533225	0.000000	0.05858	0.001000	0.08648	0.659000	0.38960	-0.846000	0.04336	-0.593000	0.05844	0.462000	0.41574	CGG		0.622	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		3	18	0	0	0	1	0	3	18				
HIST1H2AE	3012	broad.mit.edu	37	6	26217210	26217210	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:26217210G>A	ENST00000303910.2	+	1	46	c.8G>A	c.(7-9)gGa>gAa	p.G3E	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	3						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				ACTATGTCTGGACGTGGAAAG	0.502																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(7-9)gGa>gAa		histone cluster 1, H2ae							57.0	52.0	54.0					6																	26217210		2203	4300	6503	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217210G>A	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.8G>A	6.37:g.26217210G>A	ENSP00000303373:p.Gly3Glu						p.G3E	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	46	+		all_hematologic(11;0.196)	3					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.8G>A	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	13.66	2.303079	0.40795	.	.	ENSG00000168274	ENST00000303910	D	0.94184	-3.37	4.08	4.08	0.47627	.	0.000000	0.33670	U	0.004668	D	0.97623	0.9221	H	0.96208	3.785	0.51767	D	0.999931	.	.	.	.	.	.	D	0.98760	1.0724	8	0.87932	D	0	.	15.7958	0.78409	0.0:0.0:1.0:0.0	.	.	.	.	E	3	ENSP00000303373:G3E	ENSP00000303373:G3E	G	+	2	0	HIST1H2AE	26325189	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	9.349000	0.97066	2.267000	0.75376	0.655000	0.94253	GGA		0.502	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		32	40	0	0	0	1	0	32	40				
LCT	3938	broad.mit.edu	37	2	136566217	136566217	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:136566217C>T	ENST00000264162.2	-	8	3710	c.3700G>A	c.(3700-3702)Gag>Aag	p.E1234K	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1234	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCCTCCTCCTCAGCCATCTCC	0.577																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3700-3702)Gag>Aag		lactase							150.0	127.0	135.0					2																	136566217		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566217C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3700G>A	2.37:g.136566217C>T	ENSP00000264162:p.Glu1234Lys						p.E1234K	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3710	-			1234			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3700G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	4.038	0.004602	0.07866	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.32515	1.45	5.76	1.3	0.21679	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.878157	0.10340	N	0.686422	T	0.15046	0.0363	N	0.20530	0.585	0.09310	N	1	B	0.18863	0.031	B	0.29267	0.1	T	0.38023	-0.9680	10	0.06494	T	0.89	-1.3975	1.6849	0.02839	0.1148:0.3555:0.2246:0.305	.	1234	P09848	LPH_HUMAN	K	1234;666	ENSP00000264162:E1234K	ENSP00000264162:E1234K	E	-	1	0	LCT	136282687	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	-0.264000	0.08658	0.166000	0.19597	0.563000	0.77884	GAG		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		78	90	0	0	0	1	0	78	90				
EHHADH	1962	broad.mit.edu	37	3	184947316	184947316	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:184947316G>C	ENST00000231887.3	-	4	442	c.367C>G	c.(367-369)Cca>Gca	p.P123A	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Missense_Mutation_p.P27A	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	123	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GTAACTTCTGGTAAGCCAACT	0.473																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(367-369)Cca>Gca		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						87.0	72.0	77.0					3																	184947316		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184947316G>C	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.367C>G	3.37:g.184947316G>C	ENSP00000231887:p.Pro123Ala					EHHADH_ENST00000456310.1_Missense_Mutation_p.P27A|EHHADH_ENST00000475987.1_5'UTR	p.P123A	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		4	442	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		123			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.367C>G	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129062	0.56721	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.71579	-0.58;-0.58	6.07	5.16	0.70880	Crotonase, core (1);	0.045291	0.85682	D	0.000000	D	0.84973	0.5591	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.86779	0.1978	10	0.87932	D	0	-17.7369	15.7053	0.77573	0.0:0.0:0.8626:0.1374	.	123	Q08426	ECHP_HUMAN	A	123;123;27	ENSP00000231887:P123A;ENSP00000387746:P27A	ENSP00000231887:P123A	P	-	1	0	EHHADH	186430010	1.000000	0.71417	0.970000	0.41538	0.410000	0.31052	5.698000	0.68302	2.890000	0.99128	0.650000	0.86243	CCA		0.473	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			31	22	0	0	0	1	0	31	22				
ZNF208	7757	broad.mit.edu	37	19	22154433	22154433	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:22154433G>C	ENST00000397126.4	-	4	3551	c.3403C>G	c.(3403-3405)Cat>Gat	p.H1135D	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTACCTTA	0.368																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3403-3405)Cat>Gat		zinc finger protein 208							46.0	49.0	48.0					19																	22154433		2082	4221	6303	SO:0001583	missense	7757							g.chr19:22154433G>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3403C>G	19.37:g.22154433G>C	ENSP00000380315:p.His1135Asp					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.H1135D	NM_007153.3	NP_009084.2					4	3551	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3403C>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641772	0.47153	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.67698	-0.28	2.59	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77253	0.4103	.	.	.	0.29005	N	0.887255	D	0.89917	1.0	D	0.79108	0.992	T	0.67837	-0.5567	8	0.62326	D	0.03	.	8.0573	0.30612	0.1347:0.0:0.8653:0.0	.	1007	O43345	ZN208_HUMAN	D	1135;1007	ENSP00000380315:H1135D	ENSP00000380315:H1135D	H	-	1	0	ZNF208	21946273	.	.	0.002000	0.10522	0.100000	0.18952	.	.	0.119000	0.18210	0.297000	0.19635	CAT		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		53	65	0	0	0	1	0	53	65				
EIF2S2	8894	broad.mit.edu	37	20	32693183	32693183	+	Missense_Mutation	SNP	T	T	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:32693183T>C	ENST00000374980.2	-	2	405	c.184A>G	c.(184-186)Agg>Ggg	p.R62G		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	62					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CCTTTTTTCCTAGTGTCCTCT	0.483																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(184-186)Agg>Ggg		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							230.0	203.0	212.0					20																	32693183		2203	4300	6503	SO:0001583	missense	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32693183T>C	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.184A>G	20.37:g.32693183T>C	ENSP00000364119:p.Arg62Gly						p.R62G	NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN			2	405	-			62					Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	c.184A>G	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123002	0.37436	.	.	ENSG00000125977	ENST00000374980	T	0.45276	0.9	5.19	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	L	0.33137	0.985	0.44927	D	0.997942	B;B	0.27498	0.18;0.18	B;B	0.19391	0.025;0.025	T	0.08472	-1.0720	10	0.26408	T	0.33	-36.3535	11.9834	0.53133	0.0:0.0:0.1446:0.8554	.	62;62	Q6IBR8;P20042	.;IF2B_HUMAN	G	62	ENSP00000364119:R62G	ENSP00000364119:R62G	R	-	1	2	EIF2S2	32156844	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.221000	0.65272	2.073000	0.62155	0.482000	0.46254	AGG		0.483	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		5	566	0	0	0	1	0	5	566				
DNAH5	1767	broad.mit.edu	37	5	13714730	13714730	+	Splice_Site	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:13714730C>A	ENST00000265104.4	-	75	13014		c.e75-1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGCAAACTCTGAACAACAG	0.488									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.e75-1		dynein, axonemal, heavy chain 5							63.0	54.0	57.0					5																	13714730		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13714730C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12910-1G>T	5.37:g.13714730C>A								NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			75	13014	-	Lung NSC(4;0.00476)							Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37		CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987930	0.74589	.	.	ENSG00000039139	ENST00000265104	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.454	0.90713	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH5	13767730	1.000000	0.71417	0.876000	0.34364	0.795000	0.44927	5.995000	0.70631	2.446000	0.82766	0.655000	0.94253	.		0.488	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Intron	14	23	1	0	4.3838e-07	1	4.49977e-07	14	23				
MFHAS1	9258	broad.mit.edu	37	8	8747707	8747707	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:8747707G>A	ENST00000276282.6	-	1	3448	c.2862C>T	c.(2860-2862)acC>acT	p.T954T		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	954										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CTTGCCATGCGGTCCATATAT	0.522																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2860-2862)acC>acT		malignant fibrous histiocytoma amplified sequence 1							99.0	93.0	95.0					8																	8747707		2203	4300	6503	SO:0001819	synonymous_variant	9258							g.chr8:8747707G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2862C>T	8.37:g.8747707G>A							p.T954T	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	3448	-		Hepatocellular(245;0.217)	954					Q96CI0	Silent	SNP	ENST00000276282.6	37	c.2862C>T	CCDS34844.1																																																																																				0.522	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		48	73	0	0	0	1	0	48	73				
MASP1	5648	broad.mit.edu	37	3	186954356	186954356	+	Intron	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:186954356C>G	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000296280.6_Splice_Site	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGACCACACTCTGTAAGGAGA	0.552																																						ENST00000296280.6																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.e11-1		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							64.0	67.0	66.0					3																	186954356		2203	4299	6502	SO:0001627	intron_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186954356C>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+4912G>C	3.37:g.186954356C>G						MASP1_ENST00000392472.2_Splice_Site|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000337774.5_Intron		NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	1529	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)							A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Splice_Site	SNP	ENST00000337774.5	37		CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785396	0.70337	.	.	ENSG00000127241	ENST00000296280;ENST00000392472;ENST00000541896	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MASP1	188437050	1.000000	0.71417	0.876000	0.34364	0.839000	0.47603	7.535000	0.82014	2.808000	0.96608	0.655000	0.94253	.		0.552	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		50	185	0	0	0	1	0	50	185				
CEP170	9859	broad.mit.edu	37	1	243349126	243349126	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:243349126C>G	ENST00000366542.1	-	10	1572	c.1521G>C	c.(1519-1521)gaG>gaC	p.E507D	CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	507						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTTGGGATTCTCTAACTCAA	0.348																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(1519-1521)gaG>gaC		centrosomal protein 170kDa							92.0	92.0	92.0					1																	243349126		1829	4084	5913	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243349126C>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1521G>C	1.37:g.243349126C>G	ENSP00000355500:p.Glu507Asp					CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron	p.E507D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		10	1572	-	all_neural(11;0.101)	all_cancers(173;0.003)	507					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.1521G>C	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.585401|1.585401	0.28268|0.28268	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542|ENST00000336415	T|.	0.60920|.	0.15|.	5.3|5.3	4.18|4.18	0.49190|0.49190	.|.	0.050128|.	0.85682|.	D|.	0.000000|.	T|T	0.56411|0.56411	0.1983|0.1983	L|L	0.56124|0.56124	1.755|1.755	0.80722|0.80722	D|D	1|1	B|.	0.22414|.	0.069|.	B|.	0.22386|.	0.039|.	T|T	0.56123|0.56123	-0.8031|-0.8031	10|5	0.31617|.	T|.	0.26|.	-15.0235|-15.0235	4.6447|4.6447	0.12566|0.12566	0.2209:0.6227:0.0:0.1564|0.2209:0.6227:0.0:0.1564	.|.	507|.	Q5SW79|.	CE170_HUMAN|.	D|T	507|471	ENSP00000355500:E507D|.	ENSP00000355500:E507D|.	E|R	-|-	3|2	2|0	CEP170|CEP170	241415749|241415749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.023000|1.023000	0.30065|0.30065	2.468000|2.468000	0.83385|0.83385	0.585000|0.585000	0.79938|0.79938	GAG|AGA		0.348	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		66	76	0	0	0	1	0	66	76				
MLXIP	22877	broad.mit.edu	37	12	122618381	122618381	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:122618381C>T	ENST00000319080.7	+	9	1711	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	MLXIP_ENST00000377037.2_Missense_Mutation_p.P117S|MLXIP_ENST00000538698.1_Missense_Mutation_p.P134S					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGCACTGTCTCCTGTCACCCG	0.627																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1579-1581)Cct>Tct		MLX interacting protein							29.0	34.0	33.0					12																	122618381		2055	4194	6249	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122618381C>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1579C>T	12.37:g.122618381C>T	ENSP00000312834:p.Pro527Ser					MLXIP_ENST00000377037.2_Missense_Mutation_p.P117S|MLXIP_ENST00000538698.1_Missense_Mutation_p.P134S	p.P527S			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	9	1711	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	527						Missense_Mutation	SNP	ENST00000319080.7	37	c.1579C>T		.	.	.	.	.	.	.	.	.	.	C	3.595	-0.082826	0.07141	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000539039;ENST00000377037	T;T;T	0.78707	-1.2;-1.2;-1.2	4.5	2.66	0.31614	.	0.446546	0.22757	N	0.056020	T	0.81370	0.4808	.	.	.	0.37760	D	0.926271	D;B	0.71674	0.998;0.006	D;B	0.80764	0.994;0.004	T	0.79286	-0.1866	9	0.33141	T	0.24	-8.0797	2.0564	0.03582	0.1349:0.3666:0.3187:0.1799	.	527;527	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	S	527;134;134;117	ENSP00000312834:P527S;ENSP00000440769:P134S;ENSP00000366236:P117S	ENSP00000312834:P527S	P	+	1	0	MLXIP	121184334	0.953000	0.32496	0.766000	0.31476	0.441000	0.31987	0.291000	0.18994	1.201000	0.43203	-0.150000	0.13652	CCT		0.627	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		14	22	0	0	0	1	0	14	22				
PARN	5073	broad.mit.edu	37	16	14540841	14540841	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:14540841C>T	ENST00000437198.2	-	23	1909	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	PARN_ENST00000539279.1_Missense_Mutation_p.E415K|PARN_ENST00000341484.7_Missense_Mutation_p.E529K|PARN_ENST00000420015.2_Missense_Mutation_p.E544K	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	590					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.E590Q(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TGCTCAAGCTCAGTGTCGGAA	0.493																																						ENST00000437198.2																			2	Substitution - Missense(2)	p.E590Q(2)	cervix(2)	cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						c.(1768-1770)Gag>Aag		poly(A)-specific ribonuclease							118.0	115.0	116.0					16																	14540841		1903	4114	6017	SO:0001583	missense	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14540841C>T	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1768G>A	16.37:g.14540841C>T	ENSP00000387911:p.Glu590Lys					PARN_ENST00000341484.7_Missense_Mutation_p.E529K|PARN_ENST00000420015.2_Missense_Mutation_p.E544K|PARN_ENST00000539279.1_Missense_Mutation_p.E415K	p.E590K	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN			23	1909	-			590					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	c.1768G>A	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089619	0.55968	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.65	5.65	0.86999	.	0.602394	0.17829	N	0.160616	T	0.46112	0.1376	N	0.24115	0.695	0.40650	D	0.982022	B;B;B	0.14805	0.011;0.001;0.001	B;B;B	0.11329	0.006;0.001;0.001	T	0.32375	-0.9909	9	0.39692	T	0.17	-15.4877	15.5961	0.76583	0.0:1.0:0.0:0.0	.	415;544;590	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	K	590;529;544;415	.	ENSP00000345456:E529K	E	-	1	0	PARN	14448342	0.993000	0.37304	0.819000	0.32651	0.548000	0.35241	4.417000	0.59822	2.827000	0.97445	0.650000	0.86243	GAG		0.493	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		49	72	0	0	0	1	0	49	72				
C19orf26	255057	broad.mit.edu	37	19	1231186	1231186	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:1231186G>A	ENST00000382477.2	-	9	1402	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	C19orf26_ENST00000590083.1_Silent_p.F356F|C19orf26_ENST00000215376.6_Silent_p.F350F			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	376						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTACTGGATGAAGTCCTCCT	0.692										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(1066-1068)ttC>ttT		chromosome 19 open reading frame 26							38.0	40.0	39.0					19																	1231186		2202	4297	6499	SO:0001819	synonymous_variant	255057					integral to membrane		g.chr19:1231186G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.1128C>T	19.37:g.1231186G>A		HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Silent_p.F350F|C19orf26_ENST00000382477.2_Silent_p.F376F	p.F356F			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1360	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	376					O43385	Silent	SNP	ENST00000382477.2	37	c.1068C>T																																																																																					0.692	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		41	53	0	0	0	1	0	41	53				
MPO	4353	broad.mit.edu	37	17	56348162	56348162	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:56348162G>A	ENST00000225275.3	-	12	2269	c.2093C>T	c.(2092-2094)tCa>tTa	p.S698L	MPO_ENST00000340482.3_Missense_Mutation_p.S730L	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	698					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCGGGGCAATGAGATCTGGGC	0.547																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(2188-2190)tCa>tTa		myeloperoxidase	Cefdinir(DB00535)						233.0	180.0	198.0					17																	56348162		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56348162G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2093C>T	17.37:g.56348162G>A	ENSP00000225275:p.Ser698Leu					MPO_ENST00000225275.3_Missense_Mutation_p.S698L	p.S730L			P05164	PERM_HUMAN			11	2365	-			698					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.2189C>T	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	36	5.612836	0.96637	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.71698	-0.59;-0.59	5.76	5.76	0.90799	.	0.161988	0.56097	D	0.000025	D	0.89832	0.6829	H	0.97051	3.93	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.92736	0.6204	10	0.87932	D	0	-34.2797	18.9641	0.92689	0.0:0.0:1.0:0.0	.	698	P05164	PERM_HUMAN	L	730;698	ENSP00000344419:S730L;ENSP00000225275:S698L	ENSP00000225275:S698L	S	-	2	0	MPO	53703161	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.764000	0.62264	2.713000	0.92767	0.655000	0.94253	TCA		0.547	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			24	25	0	0	0	1	0	24	25				
SUPT16H	11198	broad.mit.edu	37	14	21825383	21825383	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:21825383G>C	ENST00000216297.2	-	22	2971	c.2633C>G	c.(2632-2634)tCt>tGt	p.S878C		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	878					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGGGTCAAGAGAGGCTACAGG	0.433																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2632-2634)tCt>tGt		suppressor of Ty 16 homolog (S. cerevisiae)							187.0	141.0	156.0					14																	21825383		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21825383G>C	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2633C>G	14.37:g.21825383G>C	ENSP00000216297:p.Ser878Cys						p.S878C	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	22	2971	-	all_cancers(95;0.00115)		878					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2633C>G	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674306	0.88445	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.62	5.62	0.85841	Translation elongation factor EFG/EF2, C-terminal (1);Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.84044	0.0366	9	0.40728	T	0.16	-13.1871	18.4299	0.90622	0.0:0.0:1.0:0.0	.	878	Q9Y5B9	SP16H_HUMAN	C	878	.	ENSP00000216297:S878C	S	-	2	0	SUPT16H	20895223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.882000	0.92420	2.646000	0.89796	0.655000	0.94253	TCT		0.433	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			19	42	0	0	0	1	0	19	42				
KMT2B	9757	broad.mit.edu	37	19	36211785	36211785	+	Silent	SNP	C	C	T	rs375618290		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:36211785C>T	ENST00000222270.7	+	3	1536	c.1536C>T	c.(1534-1536)acC>acT	p.T512T	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.T512T|KMT2B_ENST00000341701.1_Silent_p.T512T	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	512	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACAGTCCCACCGTGGCCCCCA	0.652																																						ENST00000222270.7																			0											c.(1534-1536)acC>acT				C		1,3921		0,1,1960	14.0	17.0	16.0		1536	-2.5	1.0	19		16	0,8284		0,0,4142	no	coding-synonymous	MLL4	NM_014727.1		0,1,6102	TT,TC,CC		0.0,0.0255,0.0082		512/2716	36211785	1,12205	1961	4142	6103	SO:0001819	synonymous_variant	9757							g.chr19:36211785C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1536C>T	19.37:g.36211785C>T						WBP7_ENST00000341701.1_Silent_p.T512T|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.T512T	p.T512T	NM_014727.1	NP_055542.1					3	1536	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.1536C>T	CCDS46055.1																																																																																				0.652	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		7	13	0	0	0	1	0	7	13				
HIST1H2AM	8336	broad.mit.edu	37	6	27860798	27860798	+	Missense_Mutation	SNP	C	C	G	rs549660103		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:27860798C>G	ENST00000359611.2	-	1	165	c.130G>C	c.(130-132)Gtc>Ctc	p.V44L	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	44						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CCGGCCCCGACCCGCTCAGCG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15199	0.001		0.0	False		,,,				2504	0.0					ENST00000359611.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						c.(130-132)Gtc>Ctc		histone cluster 1, H2am							43.0	50.0	48.0					6																	27860798		2203	4300	6503	SO:0001583	missense	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860798C>G	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.130G>C	6.37:g.27860798C>G	ENSP00000352627:p.Val44Leu					HIST1H3J_ENST00000479986.1_5'UTR	p.V44L	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN			1	165	-			44					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.130G>C	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028155	0.54790	.	.	ENSG00000233224	ENST00000359611	T	0.67523	-0.27	3.92	3.92	0.45320	.	0.000000	0.27826	U	0.017694	T	0.65417	0.2689	L	0.49256	1.55	0.35963	D	0.834711	.	.	.	.	.	.	T	0.70557	-0.4839	8	0.62326	D	0.03	.	15.7198	0.77700	0.0:1.0:0.0:0.0	.	.	.	.	L	44	ENSP00000352627:V44L	ENSP00000352627:V44L	V	-	1	0	HIST1H2AM	27968777	1.000000	0.71417	0.973000	0.42090	0.273000	0.26683	5.573000	0.67417	2.475000	0.83589	0.561000	0.74099	GTC		0.657	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514		49	98	0	0	0	1	0	49	98				
SESN2	83667	broad.mit.edu	37	1	28598203	28598203	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:28598203G>C	ENST00000253063.3	+	3	496	c.175G>C	c.(175-177)Gag>Cag	p.E59Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	59					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGGGGCTGAGAGCCTCGA	0.587																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(175-177)Gag>Cag		sestrin 2							59.0	59.0	59.0					1																	28598203		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28598203G>C	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.175G>C	1.37:g.28598203G>C	ENSP00000253063:p.Glu59Gln						p.E59Q	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	3	496	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	59					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.175G>C	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285319	0.40394	.	.	ENSG00000130766	ENST00000253063	T	0.22539	1.95	5.08	5.08	0.68730	.	0.271733	0.35772	N	0.002996	T	0.32466	0.0830	L	0.46157	1.445	0.29441	N	0.85916	P	0.47841	0.901	P	0.55055	0.767	T	0.08513	-1.0718	10	0.15499	T	0.54	-25.2137	17.6073	0.88041	0.0:0.0:1.0:0.0	.	59	P58004	SESN2_HUMAN	Q	59	ENSP00000253063:E59Q	ENSP00000253063:E59Q	E	+	1	0	SESN2	28470790	0.974000	0.33945	0.997000	0.53966	0.490000	0.33462	1.733000	0.38156	2.532000	0.85374	0.655000	0.94253	GAG		0.587	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			22	40	0	0	0	1	0	22	40				
KCNH5	27133	broad.mit.edu	37	14	63416882	63416882	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:63416882C>G	ENST00000322893.7	-	7	1606	c.1338G>C	c.(1336-1338)aaG>aaC	p.K446N	KCNH5_ENST00000394968.1_Missense_Mutation_p.K388N|KCNH5_ENST00000420622.2_Missense_Mutation_p.K446N|KCNH5_ENST00000394964.2_Missense_Mutation_p.K388N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	446					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCGAAAACATCTTCTCCACAT	0.383																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1336-1338)aaG>aaC		potassium voltage-gated channel, subfamily H (eag-related), member 5							97.0	92.0	94.0					14																	63416882		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63416882C>G	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1338G>C	14.37:g.63416882C>G	ENSP00000321427:p.Lys446Asn					KCNH5_ENST00000394968.1_Missense_Mutation_p.K388N|KCNH5_ENST00000394964.2_Missense_Mutation_p.K388N|KCNH5_ENST00000420622.2_Missense_Mutation_p.K446N	p.K446N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1606	-			446					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1338G>C	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554664	0.65425	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63	5.75	3.93	0.45458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;0.999;1.0	D;D;D;D	0.81914	0.985;0.967;0.944;0.995	D	0.99552	1.0966	10	0.87932	D	0	.	12.7394	0.57243	0.0:0.8653:0.0:0.1347	.	388;388;446;446	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	N	446;446;388;388	ENSP00000321427:K446N;ENSP00000395439:K446N;ENSP00000378419:K388N;ENSP00000378415:K388N	ENSP00000321427:K446N	K	-	3	2	KCNH5	62486635	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.341000	0.52151	1.444000	0.47605	-0.136000	0.14681	AAG		0.383	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		67	88	0	0	0	1	0	67	88				
R3HCC1L	27291	broad.mit.edu	37	10	99969386	99969386	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:99969386G>A	ENST00000298999.3	+	5	1818	c.1515G>A	c.(1513-1515)gtG>gtA	p.V505V	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.V505V|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	505							nucleotide binding (GO:0000166)										ACAGTGCCGTGGGCATTGACC	0.408																																						ENST00000298999.3																			0											c.(1513-1515)gtG>gtA		R3H domain and coiled-coil containing 1-like							95.0	86.0	89.0					10																	99969386		2203	4300	6503	SO:0001819	synonymous_variant	27291							g.chr10:99969386G>A	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1515G>A	10.37:g.99969386G>A						R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.V505V|R3HCC1L_ENST00000314594.5_5'UTR	p.V505V	NM_014472.4	NP_055287.4					5	1818	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	c.1515G>A	CCDS31267.1																																																																																				0.408	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		55	58	0	0	0	1	0	55	58				
ITGB3	3690	broad.mit.edu	37	17	45364505	45364505	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:45364505G>C	ENST00000559488.1	+	6	863	c.847G>C	c.(847-849)Gca>Cca	p.A283P	ITGB3_ENST00000560629.1_Missense_Mutation_p.S271T|ITGB3_ENST00000571680.1_Missense_Mutation_p.A283P|ITGB3_ENST00000435993.2_Missense_Mutation_p.A236P	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	283	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GACTCATATAGCATTGGACGG	0.463																																						ENST00000559488.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39	GRCh37	CD001900	ITGB3	D		c.(847-849)Gca>Cca		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)						167.0	121.0	137.0					17																	45364505		2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45364505G>C		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.847G>C	17.37:g.45364505G>C	ENSP00000452786:p.Ala283Pro					ITGB3_ENST00000560629.1_Missense_Mutation_p.S271T|ITGB3_ENST00000571680.1_Missense_Mutation_p.A283P|ITGB3_ENST00000435993.2_Missense_Mutation_p.A236P	p.A283P	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN			6	863	+			283			VWFA.		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.847G>C	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319742	0.95682	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.95069	-3.6	5.28	5.28	0.74379	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99285	1.0897	10	0.87932	D	0	.	18.0181	0.89247	0.0:0.0:1.0:0.0	.	283;283	P05106;Q2YFE1	ITB3_HUMAN;.	P	283;236	ENSP00000407801:A236P	ENSP00000262017:A283P	A	+	1	0	C17orf57	42719504	1.000000	0.71417	0.983000	0.44433	0.971000	0.66376	9.787000	0.99055	2.629000	0.89072	0.561000	0.74099	GCA		0.463	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		66	75	0	0	0	1	0	66	75				
RP11-383M4.6	0	broad.mit.edu	37	9	84547987	84547987	+	lincRNA	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:84547987G>A	ENST00000585776.1	-	0	1039				RP11-383M4.2_ENST00000427387.1_lincRNA|SPATA31D4_ENST00000341875.4_RNA																							AAGTCTCATAGACGAAGCACT	0.458																																						ENST00000585776.1																			0																																																			0							g.chr9:84547987G>A																													9.37:g.84547987G>A						SPATA31D4_ENST00000341875.4_RNA								0	1039	-									RNA	SNP	ENST00000585776.1	37																																																																																						0.458	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			18	35	0	0	0	1	0	18	35				
TNFRSF6B	8771	broad.mit.edu	37	20	62326478	62326478	+	5'Flank	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:62326478C>T	ENST00000369996.1	+	0	0				RTEL1_ENST00000370003.1_Silent_p.L380L|RTEL1_ENST00000360203.5_Silent_p.L1135L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1135L|RTEL1_ENST00000318100.4_Silent_p.L1135L|RTEL1_ENST00000508582.2_Silent_p.L1159L|RTEL1_ENST00000370018.3_Silent_p.L1135L	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GTGCACAGACCTGACCGGCCG	0.642																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(3403-3405)Ctg>Ttg		regulator of telomere elongation helicase 1							41.0	42.0	42.0					20																	62326478		2177	4277	6454	SO:0001631	upstream_gene_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62326478C>T	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326478C>T	Exception_encountered					RTEL1_ENST00000370003.1_Silent_p.L380L|RTEL1_ENST00000370018.3_Silent_p.L1135L|RTEL1_ENST00000360203.5_Silent_p.L1135L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L1135L|RTEL1_ENST00000508582.2_Silent_p.L1159L	p.L1135L			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		33	4230	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		1135						Silent	SNP	ENST00000369996.1	37	c.3403C>T	CCDS13532.1																																																																																				0.642	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			22	31	0	0	0	1	0	22	31				
KDM5C	8242	broad.mit.edu	37	X	53223011	53223011	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:53223011C>T	ENST00000375401.3	-	24	4593	c.4061G>A	c.(4060-4062)gGa>gAa	p.G1354E	KDM5C_ENST00000452825.3_Missense_Mutation_p.G1287E|KDM5C_ENST00000404049.3_Missense_Mutation_p.G1353E|KDM5C_ENST00000375379.3_Missense_Mutation_p.G1354E|KDM5C_ENST00000375383.3_Missense_Mutation_p.G1313E	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1354					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CACACTGTCTCCATTCTCCAG	0.567			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(3859-3861)gGa>gAa		lysine (K)-specific demethylase 5C							118.0	86.0	97.0					X																	53223011		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53223011C>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4061G>A	X.37:g.53223011C>T	ENSP00000364550:p.Gly1354Glu					KDM5C_ENST00000404049.3_Missense_Mutation_p.G1353E|KDM5C_ENST00000375379.3_Missense_Mutation_p.G1354E|KDM5C_ENST00000375383.3_Missense_Mutation_p.G1313E|KDM5C_ENST00000375401.3_Missense_Mutation_p.G1354E	p.G1287E	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			22	4392	-			1354					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.3860G>A	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	10.89	1.478982	0.26511	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.85702	-2.02;-1.71;-1.71;-1.72;-1.86	4.63	4.63	0.57726	.	0.284820	0.33457	N	0.004899	T	0.74831	0.3768	L	0.27053	0.805	0.41368	D	0.987471	B;B;B	0.13145	0.007;0.003;0.003	B;B;B	0.11329	0.006;0.004;0.004	T	0.68853	-0.5299	10	0.17832	T	0.49	-9.5233	12.159	0.54093	0.0:1.0:0.0:0.0	.	1287;1353;1354	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	E	1287;1354;1353;1354;1313	ENSP00000445176:G1287E;ENSP00000364550:G1354E;ENSP00000385394:G1353E;ENSP00000364528:G1354E;ENSP00000364532:G1313E	ENSP00000364528:G1354E	G	-	2	0	KDM5C	53239736	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.457000	0.45005	1.912000	0.55364	0.411000	0.27672	GGA		0.567	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		14	5	0	0	0	1	0	14	5				
FMN2	56776	broad.mit.edu	37	1	240370281	240370281	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:240370281C>T	ENST00000319653.9	+	5	2399	c.2169C>T	c.(2167-2169)ctC>ctT	p.L723L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	723					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATGTCTGTCTCGAAGCTCTCA	0.532																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2167-2169)ctC>ctT		formin 2							66.0	65.0	65.0					1																	240370281		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370281C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2169C>T	1.37:g.240370281C>T							p.L723L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2399	+	Ovarian(103;0.127)	all_cancers(173;0.013)	723					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2169C>T	CCDS31069.2																																																																																				0.532	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		22	29	0	0	0	1	0	22	29				
ZNF136	7695	broad.mit.edu	37	19	12298256	12298256	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:12298256G>A	ENST00000343979.4	+	4	1203	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	ZNF136_ENST00000398616.2_Missense_Mutation_p.E289K	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	355					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCAAATACATGAAAGGACTCA	0.403																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1063-1065)Gaa>Aaa		zinc finger protein 136							74.0	76.0	75.0					19																	12298256		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298256G>A	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1063G>A	19.37:g.12298256G>A	ENSP00000344162:p.Glu355Lys					ZNF136_ENST00000398616.2_Missense_Mutation_p.E289K	p.E355K	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN			4	1203	+			355						Missense_Mutation	SNP	ENST00000343979.4	37	c.1063G>A	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.343146	0.61073	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.24538	1.85;1.85	1.4	0.26	0.15588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07234	0.0183	N	0.02697	-0.525	0.26225	N	0.979092	B	0.29909	0.261	B	0.23716	0.048	T	0.28038	-1.0056	8	.	.	.	.	0.6231	0.00782	0.1715:0.2471:0.3306:0.2508	.	355	P52737	ZN136_HUMAN	K	355;289	ENSP00000344162:E355K;ENSP00000381617:E289K	.	E	+	1	0	ZNF136	12159256	0.000000	0.05858	0.006000	0.13384	0.752000	0.42762	0.317000	0.19487	0.122000	0.18314	0.655000	0.94253	GAA		0.403	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		47	73	0	0	0	1	0	47	73				
GLUD2	2747	broad.mit.edu	37	X	120181742	120181742	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:120181742G>C	ENST00000328078.1	+	1	281	c.204G>C	c.(202-204)aaG>aaC	p.K68N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	68					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ACTTCTTCAAGATGGTGGAGG	0.672																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(202-204)aaG>aaC		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						61.0	58.0	59.0					X																	120181742		2202	4300	6502	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181742G>C	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.204G>C	X.37:g.120181742G>C	ENSP00000327589:p.Lys68Asn						p.K68N	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	281	+			68					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.204G>C	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148857	0.37923	.	.	ENSG00000182890	ENST00000328078	D	0.96587	-4.06	1.58	0.68	0.17980	.	0.191678	0.43416	D	0.000578	D	0.90239	0.6948	L	0.28556	0.865	0.42695	D	0.993597	B	0.02656	0.0	B	0.04013	0.001	T	0.80294	-0.1443	10	0.29301	T	0.29	.	5.9126	0.19037	0.1939:0.0:0.8061:0.0	.	68	P49448	DHE4_HUMAN	N	68	ENSP00000327589:K68N	ENSP00000327589:K68N	K	+	3	2	GLUD2	120009423	0.997000	0.39634	0.006000	0.13384	0.661000	0.39034	0.289000	0.18957	0.179000	0.19938	0.372000	0.22366	AAG		0.672	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		61	12	0	0	0	1	0	61	12				
SLC24A4	123041	broad.mit.edu	37	14	92915514	92915514	+	Missense_Mutation	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:92915514C>A	ENST00000532405.1	+	10	1060	c.834C>A	c.(832-834)ttC>ttA	p.F278L	SLC24A4_ENST00000351924.5_Intron|SLC24A4_ENST00000531433.1_Intron|SLC24A4_ENST00000393265.2_Missense_Mutation_p.F214L|SLC24A4_ENST00000298877.1_Missense_Mutation_p.F261L			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	278					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTAATGATTTCTATGACGGTA	0.502																																					NSCLC(10;315 435 10383 28450 38798)	ENST00000532405.1																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36						c.(832-834)ttC>ttA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 4							132.0	98.0	109.0					14																	92915514		2203	4300	6503	SO:0001583	missense	123041					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr14:92915514C>A	AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.834C>A	14.37:g.92915514C>A	ENSP00000431840:p.Phe278Leu					SLC24A4_ENST00000393265.2_Missense_Mutation_p.F214L|SLC24A4_ENST00000351924.5_Intron|SLC24A4_ENST00000298877.1_Missense_Mutation_p.F261L|SLC24A4_ENST00000531433.1_Intron	p.F278L			Q8NFF2	NCKX4_HUMAN		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)	10	1060	+		all_cancers(154;0.0347)|all_epithelial(191;0.163)	278					B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	ENST00000532405.1	37	c.834C>A	CCDS9903.2	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875775	0.33162	.	.	ENSG00000140090	ENST00000393265;ENST00000532405;ENST00000298877;ENST00000318079	T;T;T	0.63417	-0.04;0.38;-0.04	5.49	4.6	0.57074	.	0.798396	0.12325	N	0.478958	T	0.36991	0.0987	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34925	-0.9809	10	0.23302	T	0.38	.	5.187	0.15189	0.0:0.7218:0.0:0.2782	.	278	Q8NFF2	NCKX4_HUMAN	L	214;278;261;130	ENSP00000376948:F214L;ENSP00000431840:F278L;ENSP00000298877:F261L	ENSP00000298877:F261L	F	+	3	2	SLC24A4	91985267	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.626000	0.54245	2.583000	0.87209	0.561000	0.74099	TTC		0.502	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395240.1	NM_153646		24	47	1	0	1.66031e-10	1	1.71329e-10	24	47				
NIPBL	25836	broad.mit.edu	37	5	37044527	37044527	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:37044527G>T	ENST00000282516.8	+	35	6686	c.6187G>T	c.(6187-6189)Gaa>Taa	p.E2063*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E2063*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2063					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCATCCAAGTGAAACTTTTCT	0.348																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6187-6189)Gaa>Taa		Nipped-B homolog (Drosophila)							89.0	87.0	88.0					5																	37044527		2203	4300	6503	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37044527G>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6187G>T	5.37:g.37044527G>T	ENSP00000282516:p.Glu2063*					NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E2063*	p.E2063*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		35	6686	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2063					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.6187G>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	50	16.139888	0.99855	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.0815	19.2439	0.93895	0.0:0.0:1.0:0.0	.	.	.	.	X	2063	.	ENSP00000282516:E2063X	E	+	1	0	NIPBL	37080284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.630000	0.89119	0.586000	0.80456	GAA		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		41	59	1	0	6.5261e-18	1	6.7704e-18	41	59				
ZSCAN2	54993	broad.mit.edu	37	15	85164921	85164921	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:85164921G>C	ENST00000448803.2	+	3	1787	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E499Q|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E498Q|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E349Q|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	499					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCACACGGGAGAGAAACCCTA	0.592																																						ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1495-1497)Gag>Cag		zinc finger and SCAN domain containing 2							91.0	86.0	88.0					15																	85164921		2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164921G>C	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1495G>C	15.37:g.85164921G>C	ENSP00000410198:p.Glu499Gln					ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E499Q|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E498Q|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E349Q|ZSCAN2_ENST00000485222.2_Intron	p.E499Q	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1787	+			499					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.1495G>C	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050783	0.55218	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.87	4.87	0.63330	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000031	T	0.44829	0.1312	L	0.48986	1.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.22695	-1.0209	9	.	.	.	-32.7048	15.4721	0.75446	0.0:0.0:1.0:0.0	.	499;499	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	Q	499;499;349;498;480	ENSP00000410198:E499Q;ENSP00000445451:E499Q;ENSP00000351257:E349Q;ENSP00000325123:E498Q	.	E	+	1	0	ZSCAN2	82965925	1.000000	0.71417	0.947000	0.38551	0.260000	0.26232	6.525000	0.73795	2.237000	0.73441	0.655000	0.94253	GAG		0.592	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		6	136	0	0	0	1	0	6	136				
SEMA4C	54910	broad.mit.edu	37	2	97531637	97531637	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:97531637C>G	ENST00000305476.5	-	4	420	c.288G>C	c.(286-288)aaG>aaC	p.K96N		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	96	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TACACTCAGTCTTCTTCTCCA	0.597																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(286-288)aaG>aaC		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							110.0	119.0	116.0					2																	97531637		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97531637C>G	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.288G>C	2.37:g.97531637C>G	ENSP00000306844:p.Lys96Asn						p.K96N	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			4	420	-			96			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.288G>C	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176421	0.57692	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.10960	2.82;2.82;2.82	5.19	3.34	0.38264	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	M	0.73598	2.24	0.54753	D	0.999987	D	0.57571	0.98	P	0.62740	0.906	T	0.00926	-1.1512	10	0.48119	T	0.1	.	7.4502	0.27234	0.0:0.7191:0.0:0.2809	.	96	Q9C0C4	SEM4C_HUMAN	N	96	ENSP00000306844:K96N;ENSP00000393498:K96N;ENSP00000391094:K96N	ENSP00000306844:K96N	K	-	3	2	SEMA4C	96895364	0.001000	0.12720	0.996000	0.52242	0.671000	0.39405	0.013000	0.13310	1.159000	0.42565	0.448000	0.29417	AAG		0.597	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		27	54	0	0	0	1	0	27	54				
OR5A1	219982	broad.mit.edu	37	11	59211536	59211536	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:59211536G>C	ENST00000302030.2	+	1	920	c.895G>C	c.(895-897)Gag>Cag	p.E299Q		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GAGGAACAAAGAGATCAAGGA	0.433																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(895-897)Gag>Cag		olfactory receptor, family 5, subfamily A, member 1							173.0	169.0	171.0					11																	59211536		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211536G>C	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.895G>C	11.37:g.59211536G>C	ENSP00000303096:p.Glu299Gln						p.E299Q	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	920	+			299					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.895G>C	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382136	0.82792	.	.	ENSG00000172320	ENST00000302030	T	0.38240	1.15	5.86	5.86	0.93980	.	0.234008	0.29572	N	0.011761	T	0.55513	0.1925	M	0.83118	2.625	0.52501	D	0.999956	D	0.55172	0.97	P	0.49999	0.628	T	0.62343	-0.6874	10	0.87932	D	0	-13.2621	18.7777	0.91918	0.0:0.0:1.0:0.0	.	299	Q8NGJ0	OR5A1_HUMAN	Q	299	ENSP00000303096:E299Q	ENSP00000303096:E299Q	E	+	1	0	OR5A1	58968112	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.580000	0.98207	2.776000	0.95493	0.650000	0.86243	GAG		0.433	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		80	131	0	0	0	1	0	80	131				
MTSS1L	92154	broad.mit.edu	37	16	70713746	70713746	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:70713746C>A	ENST00000338779.6	-	5	599	c.325G>T	c.(325-327)Gag>Tag	p.E109*		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	109	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCGATGCGCTCCTGCAGCGGG	0.736																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(325-327)Gag>Tag		metastasis suppressor 1-like							30.0	29.0	30.0					16																	70713746		2198	4300	6498	SO:0001587	stop_gained	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70713746C>A		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.325G>T	16.37:g.70713746C>A	ENSP00000341171:p.Glu109*						p.E109*	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			5	599	-			109			IMD.		A6NJI7|Q9BUA8	Nonsense_Mutation	SNP	ENST00000338779.6	37	c.325G>T	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	C	36	5.954984	0.97139	.	.	ENSG00000132613	ENST00000254951;ENST00000338779	.	.	.	4.69	4.69	0.59074	.	0.204155	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-17.6758	17.6181	0.88073	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000254951:E109X	E	-	1	0	MTSS1L	69271247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.582000	0.82546	2.168000	0.68352	0.393000	0.25936	GAG		0.736	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		10	20	1	0	9.31168e-06	1	9.50772e-06	10	20				
PLEC	5339	broad.mit.edu	37	8	144995369	144995369	+	Missense_Mutation	SNP	C	C	T	rs369356119		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:144995369C>T	ENST00000322810.4	-	32	9200	c.9031G>A	c.(9031-9033)Gac>Aac	p.D3011N	PLEC_ENST00000354958.2_Missense_Mutation_p.D2852N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2878N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2874N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2842N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2897N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2874N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2860N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2901N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3011	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCTCGGGGTCCTCCACGCAG	0.647																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9031-9033)Gac>Aac		plectin							57.0	67.0	64.0					8																	144995369		2199	4288	6487	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995369C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9031G>A	8.37:g.144995369C>T	ENSP00000323856:p.Asp3011Asn					PLEC_ENST00000354958.2_Missense_Mutation_p.D2852N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2874N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2897N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2874N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2842N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2860N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2901N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2878N	p.D3011N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9200	-			3011			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9031G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359785	0.41801	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	4.99	4.99	0.66335	.	0.000000	0.64402	U	0.000004	D	0.89072	0.6611	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.998;0.998;0.998;0.998	D	0.91078	0.4897	10	0.59425	D	0.04	.	17.3953	0.87443	0.0:1.0:0.0:0.0	.	2901;2860;2852;3011;2842;2874;2878;2874	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	2874;2878;2874;2842;3011;2852;2860;2901;2897	ENSP00000344848:D2874N;ENSP00000350277:D2878N;ENSP00000346602:D2874N;ENSP00000381756:D2842N;ENSP00000323856:D3011N;ENSP00000347044:D2852N;ENSP00000348702:D2860N;ENSP00000388180:D2901N;ENSP00000434583:D2897N	ENSP00000323856:D3011N	D	-	1	0	PLEC	145067357	1.000000	0.71417	0.948000	0.38648	0.456000	0.32438	4.830000	0.62745	2.483000	0.83821	0.462000	0.41574	GAC		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		53	88	0	0	0	1	0	53	88				
KMT2C	58508	broad.mit.edu	37	7	151873545	151873545	+	Nonsense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:151873545G>C	ENST00000262189.6	-	38	9211	c.8993C>G	c.(8992-8994)tCa>tGa	p.S2998*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S2998*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2998					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTTAACTGTTGATTGACCTGG	0.468																																						ENST00000355193.2																			0											c.(8992-8994)tCa>tGa		lysine (K)-specific methyltransferase 2C							86.0	80.0	82.0					7																	151873545		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151873545G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8993C>G	7.37:g.151873545G>C	ENSP00000262189:p.Ser2998*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S2998*	p.S2998*							38	9211	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.8993C>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	51|51	17.416763|17.416763	0.99886|0.99886	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.203931	.|0.24269	.|N	.|0.040020	T|.	0.78400|.	0.4277|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79308|.	-0.1857|.	4|.	.|0.62326	.|D	.|0.03	.|.	19.7365|19.7365	0.96208|0.96208	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	M|X	503|2998	.|.	.|ENSP00000262189:S2998X	I|S	-|-	3|2	3|0	MLL3|MLL3	151504478|151504478	0.998000|0.998000	0.40836|0.40836	0.689000|0.689000	0.30133|0.30133	0.647000|0.647000	0.38526|0.38526	7.690000|7.690000	0.84178|0.84178	2.672000|2.672000	0.90937|0.90937	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			114	26	0	0	0	1	0	114	26				
TRAV9-2	28677	broad.mit.edu	37	14	22409823	22409823	+	RNA	SNP	G	G	C	rs180744312	byFrequency	TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:22409823G>C	ENST00000390441.2	+	0	369									T cell receptor alpha variable 9-2																		GTCAGACTCAGCGGTGTACTT	0.537																																						ENST00000390441.2																			0																				69.0	65.0	67.0					14																	22409823		1964	4152	6116			28677							g.chr14:22409823G>C	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409823G>C														0	369	+									RNA	SNP	ENST00000390441.2	37																																																																																						0.537	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		16	71	0	0	0	1	0	16	71				
ODF3L1	161753	broad.mit.edu	37	15	76019645	76019645	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:76019645G>A	ENST00000332145.2	+	4	812	c.589G>A	c.(589-591)Gga>Aga	p.G197R	DNM1P35_ENST00000501931.1_RNA	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	197										kidney(1)|lung(1)	2						GGATGTGGCAGGAGGCCCTGG	0.612																																						ENST00000332145.2																			0				kidney(1)|lung(1)	2						c.(589-591)Gga>Aga		outer dense fiber of sperm tails 3-like 1							92.0	78.0	83.0					15																	76019645		2197	4294	6491	SO:0001583	missense	161753							g.chr15:76019645G>A	BC039862	CCDS10285.1	15q23	2008-02-05			ENSG00000182950	ENSG00000182950			28735	protein-coding gene	gene with protein product							Standard	NM_175881		Approved	MGC48986	uc002bax.1	Q8IXM7	OTTHUMG00000142837	ENST00000332145.2:c.589G>A	15.37:g.76019645G>A	ENSP00000329584:p.Gly197Arg						p.G197R	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN			4	812	+			197						Missense_Mutation	SNP	ENST00000332145.2	37	c.589G>A	CCDS10285.1	.	.	.	.	.	.	.	.	.	.	.	4.179	0.031739	0.08101	.	.	ENSG00000182950	ENST00000332145	T	0.29397	1.57	4.78	0.54	0.17163	.	0.483361	0.17586	N	0.168959	T	0.15869	0.0382	L	0.31294	0.92	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.18587	-1.0332	10	0.16420	T	0.52	-5.3522	3.6758	0.08291	0.3122:0.1878:0.5:0.0	.	197	Q8IXM7	OD3L1_HUMAN	R	197	ENSP00000329584:G197R	ENSP00000329584:G197R	G	+	1	0	ODF3L1	73806700	0.151000	0.22747	0.098000	0.21074	0.972000	0.66771	0.803000	0.27083	0.567000	0.29293	0.561000	0.74099	GGA		0.612	ODF3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286473.1	NM_175881		29	41	0	0	0	1	0	29	41				
GAL3ST4	79690	broad.mit.edu	37	7	99757693	99757693	+	Missense_Mutation	SNP	C	C	T	rs200495131		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:99757693C>T	ENST00000360039.4	-	4	1711	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	C7orf43_ENST00000316937.3_5'Flank|C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440Q|C7orf43_ENST00000498638.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378Q|GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000411994.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	440					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAATCCACTCCGAAGTATATA	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18698	0.0		0.0	False		,,,				2504	0.0					ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1318-1320)cGg>cAg		galactose-3-O-sulfotransferase 4							93.0	81.0	85.0					7																	99757693		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757693C>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1319G>A	7.37:g.99757693C>T	ENSP00000353142:p.Arg440Gln					GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378Q|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440Q|GAL3ST4_ENST00000423751.1_3'UTR	p.R440Q	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1711	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		440					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.1319G>A	CCDS5688.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.75	1.730664	0.30684	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.15017	2.46;2.46;2.46	5.92	1.29	0.21616	.	0.473238	0.19393	N	0.115369	T	0.11879	0.0289	L	0.37630	1.12	0.09310	N	1	B;B	0.25521	0.128;0.084	B;B	0.19946	0.027;0.012	T	0.23154	-1.0196	10	0.31617	T	0.26	-5.7265	8.857	0.35234	0.0:0.5059:0.0:0.4941	.	378;440	B4DWL8;Q96RP7	.;G3ST4_HUMAN	Q	440;440;378	ENSP00000400451:R440Q;ENSP00000353142:R440Q;ENSP00000398304:R378Q	ENSP00000353142:R440Q	R	-	2	0	GAL3ST4	99595629	0.038000	0.19896	0.992000	0.48379	0.715000	0.41141	0.211000	0.17474	0.192000	0.20272	-0.291000	0.09656	CGG		0.557	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		35	64	0	0	0	1	0	35	64				
HECTD1	25831	broad.mit.edu	37	14	31644226	31644226	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:31644226G>A	ENST00000399332.1	-	4	982	c.494C>T	c.(493-495)tCt>tTt	p.S165F	HECTD1_ENST00000553700.1_Missense_Mutation_p.S165F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	165					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.S165C(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGCCATAGCAGAGTGCAAGGT	0.418																																						ENST00000399332.1																			1	Substitution - Missense(1)	p.S165C(1)	breast(1)	breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(493-495)tCt>tTt		HECT domain containing E3 ubiquitin protein ligase 1							113.0	107.0	109.0					14																	31644226		1987	4190	6177	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31644226G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.494C>T	14.37:g.31644226G>A	ENSP00000382269:p.Ser165Phe					HECTD1_ENST00000553700.1_Missense_Mutation_p.S165F	p.S165F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	4	982	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		165					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.494C>T	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052328	0.93793	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.34859	1.34;1.34;1.34	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	M	0.82323	2.585	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.70215	-0.4933	10	0.72032	D	0.01	-8.8023	18.7299	0.91731	0.0:0.0:1.0:0.0	.	165	Q9ULT8	HECD1_HUMAN	F	165	ENSP00000450697:S165F;ENSP00000382269:S165F;ENSP00000452015:S165F	ENSP00000261312:S165F	S	-	2	0	HECTD1	30713977	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.412000	0.97347	2.426000	0.82243	0.479000	0.44913	TCT		0.418	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			56	71	0	0	0	1	0	56	71				
ALMS1	7840	broad.mit.edu	37	2	73675676	73675676	+	Silent	SNP	C	C	T	rs374151754		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:73675676C>T	ENST00000264448.6	+	8	2130	c.2019C>T	c.(2017-2019)gaC>gaT	p.D673D	ALMS1_ENST00000409009.1_Silent_p.D631D|ALMS1_ENST00000377715.1_Silent_p.D673D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	673	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATGTAGAGGACCTCCTCTTTT	0.507																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(2017-2019)gaC>gaT		Alstrom syndrome 1		C		0,3836		0,0,1918	88.0	88.0	88.0		2019	-7.9	0.0	2		88	1,8251		0,1,4125	no	coding-synonymous	ALMS1	NM_015120.4		0,1,6043	TT,TC,CC		0.0121,0.0,0.0083		673/4168	73675676	1,12087	1918	4126	6044	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675676C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2019C>T	2.37:g.73675676C>T						ALMS1_ENST00000409009.1_Silent_p.D631D|ALMS1_ENST00000377715.1_Silent_p.D673D	p.D673D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	2130	+			673			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.2019C>T	CCDS42697.1																																																																																				0.507	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		59	87	0	0	0	1	0	59	87				
PRKCA	5578	broad.mit.edu	37	17	64684434	64684434	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:64684434C>T	ENST00000413366.3	+	7	727	c.701C>T	c.(700-702)tCa>tTa	p.S234L		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	234	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	TTGAAACCTTCAGACAAAGAC	0.448																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(700-702)tCa>tTa		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						133.0	125.0	127.0					17																	64684434		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64684434C>T		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.701C>T	17.37:g.64684434C>T	ENSP00000408695:p.Ser234Leu						p.S234L	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		7	727	+			234			C2.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.701C>T	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759743	0.69763	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.69435	-0.4	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.280658	0.29653	N	0.011542	T	0.53786	0.1818	N	0.13299	0.325	0.54753	D	0.999987	B;B	0.24258	0.002;0.1	B;B	0.22753	0.016;0.041	T	0.52997	-0.8500	10	0.54805	T	0.06	.	19.101	0.93274	0.0:1.0:0.0:0.0	.	234;145	P17252;Q59FI5	KPCA_HUMAN;.	L	234;141	ENSP00000408695:S234L	ENSP00000284384:S141L	S	+	2	0	PRKCA	62114896	0.153000	0.22777	0.998000	0.56505	0.988000	0.76386	3.486000	0.53215	2.580000	0.87095	0.555000	0.69702	TCA		0.448	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			40	62	0	0	0	1	0	40	62				
MLXIP	22877	broad.mit.edu	37	12	122617948	122617948	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:122617948C>T	ENST00000319080.7	+	9	1278	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	MLXIP_ENST00000377037.2_5'Flank|MLXIP_ENST00000538698.1_5'UTR					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTGACAGCCTCATCGCGCCCC	0.607																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1144-1146)ctC>ctT		MLX interacting protein							51.0	56.0	54.0					12																	122617948		2032	4169	6201	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122617948C>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1146C>T	12.37:g.122617948C>T						MLXIP_ENST00000538698.1_5'UTR	p.L382L			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	9	1278	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	382			Transactivation domain.			Silent	SNP	ENST00000319080.7	37	c.1146C>T																																																																																					0.607	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		48	69	0	0	0	1	0	48	69				
OTOA	146183	broad.mit.edu	37	16	21728274	21728274	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:21728274G>T	ENST00000286149.4	+	14	1578	c.1577G>T	c.(1576-1578)gGg>gTg	p.G526V	OTOA_ENST00000388958.3_Missense_Mutation_p.G512V|OTOA_ENST00000388956.4_Missense_Mutation_p.G433V|OTOA_ENST00000388957.3_Missense_Mutation_p.G188V			Q7RTW8	OTOAN_HUMAN	otoancorin	526					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGATACAAGGGGCTTTCTTT	0.453																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1534-1536)gGg>gTg		otoancorin							147.0	138.0	141.0					16																	21728274		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21728274G>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1577G>T	16.37:g.21728274G>T	ENSP00000286149:p.Gly526Val					OTOA_ENST00000286149.4_Missense_Mutation_p.G526V|OTOA_ENST00000388956.4_Missense_Mutation_p.G433V|OTOA_ENST00000388957.3_Missense_Mutation_p.G188V	p.G512V	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	14	1536	+			526					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1535G>T		.	.	.	.	.	.	.	.	.	.	G	17.37	3.371880	0.61624	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.38	4.42	0.53409	.	0.122111	0.52532	N	0.000061	D	0.91520	0.7322	M	0.61703	1.905	0.50813	D	0.999896	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71870	0.975;0.975;0.951;0.975	D	0.91960	0.5578	10	0.72032	D	0.01	-11.0917	13.181	0.59655	0.0:0.0:0.8392:0.1608	.	526;433;188;512	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	V	512;526;433;188	ENSP00000373610:G512V;ENSP00000286149:G526V;ENSP00000373608:G433V;ENSP00000373609:G188V	ENSP00000286149:G526V	G	+	2	0	OTOA	21635775	1.000000	0.71417	0.065000	0.19835	0.925000	0.55904	4.574000	0.60900	1.233000	0.43693	0.655000	0.94253	GGG		0.453	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			95	132	1	0	8.13309e-56	1	8.66934e-56	95	132				
KDR	3791	broad.mit.edu	37	4	55984812	55984812	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:55984812C>T	ENST00000263923.4	-	3	612	c.317G>A	c.(316-318)cGg>cAg	p.R106Q		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	106	Ig-like C2-type 1.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|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)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCAGTTTCCCGGTAGAAGCA	0.438			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(316-318)cGg>cAg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						114.0	103.0	107.0					4																	55984812		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55984812C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.317G>A	4.37:g.55984812C>T	ENSP00000263923:p.Arg106Gln	TSP Lung(20;0.16)					p.R106Q	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		3	612	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		106			Ig-like C2-type 1.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.317G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321643	0.41096	.	.	ENSG00000128052	ENST00000263923	T	0.30714	1.52	5.48	-1.92	0.07618	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.805736	0.11841	N	0.524291	T	0.15435	0.0372	N	0.08118	0	0.21822	N	0.999521	B;B	0.16396	0.017;0.001	B;B	0.06405	0.002;0.002	T	0.17258	-1.0375	10	0.41790	T	0.15	.	12.8098	0.57634	0.0:0.3748:0.0:0.6252	.	106;106	P35968-2;P35968	.;VGFR2_HUMAN	Q	106	ENSP00000263923:R106Q	ENSP00000263923:R106Q	R	-	2	0	KDR	55679569	0.000000	0.05858	0.741000	0.31004	0.985000	0.73830	-0.834000	0.04391	-0.499000	0.06623	0.655000	0.94253	CGG		0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			4	123	0	0	0	1	0	4	123				
MTCH2	23788	broad.mit.edu	37	11	47660546	47660546	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:47660546A>G	ENST00000302503.3	-	2	302	c.145T>C	c.(145-147)Tgt>Cgt	p.C49R	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	49					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGAAGCTGACACACTTGCCGC	0.383																																						ENST00000302503.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(145-147)Tgt>Cgt		mitochondrial carrier 2							80.0	76.0	77.0					11																	47660546		2201	4298	6499	SO:0001583	missense	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47660546A>G	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.145T>C	11.37:g.47660546A>G	ENSP00000303222:p.Cys49Arg					MTCH2_ENST00000542981.1_5'UTR	p.C49R	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN			2	302	-			49					B2R7L8	Missense_Mutation	SNP	ENST00000302503.3	37	c.145T>C	CCDS7943.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894343	0.52121	.	.	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	T;T	0.38887	1.11;1.11	4.88	4.88	0.63580	Mitochondrial carrier domain (2);	0.333955	0.37577	N	0.002023	T	0.32102	0.0818	L	0.29908	0.895	0.80722	D	1	B	0.16396	0.017	B	0.20955	0.032	T	0.08249	-1.0731	10	0.27082	T	0.32	.	13.7583	0.62950	1.0:0.0:0.0:0.0	.	49	Q9Y6C9	MTCH2_HUMAN	R	49;49;28	ENSP00000303222:C49R;ENSP00000432043:C49R	ENSP00000303222:C49R	C	-	1	0	MTCH2	47617122	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.347000	0.79356	1.947000	0.56498	0.459000	0.35465	TGT		0.383	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		43	56	0	0	0	1	0	43	56				
COL25A1	84570	broad.mit.edu	37	4	110223071	110223071	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:110223071G>A	ENST00000399132.1	-	2	635	c.105C>T	c.(103-105)gcC>gcT	p.A35A	AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399126.1_Silent_p.A35A|COL25A1_ENST00000399127.1_Silent_p.A35A	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCGCCAGGACGGCACACGGGG	0.662																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(103-105)gcC>gcT		collagen, type XXV, alpha 1							52.0	57.0	56.0					4																	110223071		1999	4163	6162	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:110223071G>A	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.105C>T	4.37:g.110223071G>A						COL25A1_ENST00000399126.1_Silent_p.A35A|COL25A1_ENST00000399127.1_Silent_p.A35A	p.A35A	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	2	635	-		Hepatocellular(203;0.217)	35						Silent	SNP	ENST00000399132.1	37	c.105C>T	CCDS43258.1																																																																																				0.662	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		38	60	0	0	0	1	0	38	60				
MGAT1	4245	broad.mit.edu	37	5	180219180	180219180	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:180219180G>A	ENST00000446023.2	-	3	1542	c.792C>T	c.(790-792)ttC>ttT	p.F264F	MGAT1_ENST00000333055.3_Silent_p.F264F|MGAT1_ENST00000393340.3_Silent_p.F264F|MGAT1_ENST00000427865.2_Silent_p.F264F|MGAT1_ENST00000307826.4_Silent_p.F264F	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	264					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|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)			CCAGGCCAGGGAAAAAGTCGG	0.667																																						ENST00000446023.2																			0				endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13						c.(790-792)ttC>ttT		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							40.0	40.0	40.0					5																	180219180		2199	4293	6492	SO:0001819	synonymous_variant	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219180G>A	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.792C>T	5.37:g.180219180G>A						MGAT1_ENST00000307826.4_Silent_p.F264F|MGAT1_ENST00000393340.3_Silent_p.F264F|MGAT1_ENST00000333055.3_Silent_p.F264F|MGAT1_ENST00000427865.2_Silent_p.F264F	p.F264F	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1542	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	264					A8K404|B3KRU8|D3DWR1|Q6IBE3	Silent	SNP	ENST00000446023.2	37	c.792C>T	CCDS4458.1																																																																																				0.667	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		39	46	0	0	0	1	0	39	46				
NLRP8	126205	broad.mit.edu	37	19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	rs149738419		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:56459540G>A	ENST00000291971.3	+	1	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(271-273)cGt>cAt		NLR family, pyrin domain containing 8		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	107.0	111.0		272	-1.3	0.0	19	dbSNP_134	111	0,8600		0,0,4300	no	missense	NLRP8	NM_176811.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	91/1049	56459540	1,13005	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56459540G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.272G>A	19.37:g.56459540G>A	ENSP00000291971:p.Arg91His					NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	1	343	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	91			DAPIN.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.272G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	8.122	0.781099	0.16120	2.27E-4	0.0	ENSG00000179709	ENST00000291971	T	0.44083	0.93	2.23	-1.29	0.09288	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.11879	0.0289	N	0.03209	-0.39	0.09310	N	1	P;B	0.45634	0.863;0.064	B;B	0.36922	0.236;0.0	T	0.12372	-1.0550	9	0.06365	T	0.9	.	2.9194	0.05764	0.4182:0.2521:0.3298:0.0	.	91;91	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	91	ENSP00000291971:R91H	ENSP00000291971:R91H	R	+	2	0	NLRP8	61151352	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-1.790000	0.01759	-0.408000	0.07565	-0.492000	0.04666	CGT		0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		24	50	0	0	0	1	0	24	50				
AGGF1	55109	broad.mit.edu	37	5	76332495	76332495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:76332495G>T	ENST00000312916.7	+	4	1013	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	211					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TAGTTATGATGAAAATACTGG	0.388																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(631-633)Gaa>Taa		angiogenic factor with G patch and FHA domains 1							68.0	68.0	68.0					5																	76332495		2203	4300	6503	SO:0001587	stop_gained	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76332495G>T	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.631G>T	5.37:g.76332495G>T	ENSP00000316109:p.Glu211*						p.E211*	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	4	1013	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	211					O00581|Q53YS3|Q9BU84|Q9NW66	Nonsense_Mutation	SNP	ENST00000312916.7	37	c.631G>T	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	40	7.933701	0.98568	.	.	ENSG00000164252	ENST00000312916	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.7785	18.2548	0.90016	0.0:0.0:1.0:0.0	.	.	.	.	X	211	.	.	E	+	1	0	AGGF1	76368251	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.833000	0.92089	2.305000	0.77605	0.585000	0.79938	GAA		0.388	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		43	94	1	0	8.16277e-20	1	8.55988e-20	43	94				
DIP2C	22982	broad.mit.edu	37	10	436214	436214	+	Missense_Mutation	SNP	G	G	A	rs370308829		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:436214G>A	ENST00000280886.6	-	12	1571	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	DIP2C_ENST00000381496.3_Missense_Mutation_p.A388V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	495						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)		CTCAATATACGCAGTGTCGTT	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20739	0.0		0.0	False		,,,				2504	0.0					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.(1483-1485)gCg>gTg		DIP2 disco-interacting protein 2 homolog C (Drosophila)							121.0	111.0	115.0					10																	436214		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:436214G>A	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.1484C>T	10.37:g.436214G>A	ENSP00000280886:p.Ala495Val					DIP2C_ENST00000381496.3_Missense_Mutation_p.A388V	p.A495V	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)	12	1571	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	495					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.1484C>T	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511271	0.85389	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.68479	-0.33;-0.33	5.67	5.67	0.87782	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.84902	0.5575	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.72075	0.976;0.909	D	0.86862	0.2030	10	0.87932	D	0	-25.6337	19.7564	0.96294	0.0:0.0:1.0:0.0	.	388;495	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	V	495;388	ENSP00000280886:A495V;ENSP00000370907:A388V	ENSP00000280886:A495V	A	-	2	0	DIP2C	426214	1.000000	0.71417	0.708000	0.30435	0.351000	0.29236	9.813000	0.99286	2.677000	0.91161	0.467000	0.42956	GCG		0.517	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		15	98	0	0	0	1	0	15	98				
SORL1	6653	broad.mit.edu	37	11	121474984	121474984	+	Silent	SNP	C	C	T	rs372370099		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:121474984C>T	ENST00000260197.7	+	33	4731	c.4602C>T	c.(4600-4602)tgC>tgT	p.C1534C	SORL1_ENST00000525532.1_Silent_p.C478C|SORL1_ENST00000527934.1_Silent_p.C149C|SORL1_ENST00000534286.1_Silent_p.C444C|SORL1_ENST00000532694.1_Silent_p.C380C	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1534	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CGGAGCGCTGCGACGGCTTCC	0.647																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(4600-4602)tgC>tgT		sortilin-related receptor, L(DLR class) A repeats containing		C		0,4406		0,0,2203	105.0	96.0	99.0		4602	-9.4	0.2	11		99	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SORL1	NM_003105.5		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1534/2215	121474984	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121474984C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4602C>T	11.37:g.121474984C>T						SORL1_ENST00000525532.1_Silent_p.C478C|SORL1_ENST00000534286.1_Silent_p.C444C|SORL1_ENST00000532694.1_Silent_p.C380C|SORL1_ENST00000527934.1_Silent_p.C149C	p.C1534C	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	33	4731	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1534			LDL-receptor class A 11.		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.4602C>T	CCDS8436.1																																																																																				0.647	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		55	8	0	0	0	1	0	55	8				
ANKRD36BP2	645784	broad.mit.edu	37	2	89100786	89100786	+	RNA	SNP	A	A	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:89100786A>T	ENST00000393525.3	+	0	1260									ankyrin repeat domain 36B pseudogene 2																		TGAAAGAAAAAGAACGCCAAT	0.313																																						ENST00000393525.3																			0																																																			645784							g.chr2:89100786A>T			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100786A>T														0	1260	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.313	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			30	51	0	0	0	1	0	30	51				
PROSER2	254427	broad.mit.edu	37	10	11911548	11911548	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:11911548G>A	ENST00000277570.5	+	4	605	c.451G>A	c.(451-453)Gac>Aac	p.D151N	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_5'Flank	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	151	Pro-rich.																TCCACCTCCAGACCCCCCGGC	0.692																																						ENST00000277570.5																			0											c.(451-453)Gac>Aac		proline and serine-rich protein 2							31.0	35.0	34.0					10																	11911548		2203	4300	6503	SO:0001583	missense	254427							g.chr10:11911548G>A	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.451G>A	10.37:g.11911548G>A	ENSP00000277570:p.Asp151Asn					PROSER2-AS1_ENST00000445498.1_RNA|PROSER2-AS1_ENST00000453242.1_RNA	p.D151N	NM_153256.3	NP_694988.3					4	605	+								D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Missense_Mutation	SNP	ENST00000277570.5	37	c.451G>A	CCDS7085.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709869	0.68730	.	.	ENSG00000148426	ENST00000379208;ENST00000277570;ENST00000379202	T	0.08458	3.09	5.34	5.34	0.76211	.	0.280944	0.30320	N	0.009884	T	0.19846	0.0477	L	0.43923	1.385	0.80722	D	1	D	0.67145	0.996	P	0.60541	0.876	T	0.00146	-1.1991	10	0.87932	D	0	-20.4693	16.1642	0.81743	0.0:0.0:1.0:0.0	.	151	Q86WR7	CJ047_HUMAN	N	151	ENSP00000277570:D151N	ENSP00000277570:D151N	D	+	1	0	C10orf47	11951554	0.009000	0.17119	0.015000	0.15790	0.032000	0.12392	1.309000	0.33539	2.485000	0.83878	0.484000	0.47621	GAC		0.692	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		15	15	0	0	0	1	0	15	15				
KCNV2	169522	broad.mit.edu	37	9	2718032	2718032	+	Missense_Mutation	SNP	C	C	T	rs367842869		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:2718032C>T	ENST00000382082.3	+	1	531	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	98					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTGCTGTCCACGCTGAATGTG	0.682																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(292-294)aCg>aTg		potassium channel, subfamily V, member 2							51.0	39.0	43.0					9																	2718032		2200	4296	6496	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718032C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.293C>T	9.37:g.2718032C>T	ENSP00000371514:p.Thr98Met						p.T98M	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	531	+			98					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.293C>T	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	4.790	0.146830	0.09134	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.96774	-4.12	4.69	0.801	0.18679	BTB/POZ fold (1);	0.556047	0.20584	N	0.089471	D	0.88764	0.6525	N	0.08118	0	0.20196	N	0.999922	B	0.20988	0.05	B	0.16289	0.015	T	0.81172	-0.1054	10	0.72032	D	0.01	.	8.5312	0.33335	0.0:0.5108:0.0:0.4892	.	98	Q8TDN2	KCNV2_HUMAN	M	98	ENSP00000371514:T98M	ENSP00000371514:T98M	T	+	2	0	KCNV2	2708032	0.418000	0.25440	0.006000	0.13384	0.377000	0.30045	0.460000	0.21924	-0.017000	0.14103	0.313000	0.20887	ACG		0.682	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		12	14	0	0	0	1	0	12	14				
CAPRIN2	65981	broad.mit.edu	37	12	30884369	30884369	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:30884369G>A	ENST00000395805.2	-	6	1515	c.968C>T	c.(967-969)gCc>gTc	p.A323V	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.A323V|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A323V|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A323V	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTTTCCTTGGCATTTTTGGG	0.363																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(967-969)gCc>gTc		caprin family member 2							141.0	124.0	130.0					12																	30884369		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30884369G>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.968C>T	12.37:g.30884369G>A	ENSP00000379150:p.Ala323Val					CAPRIN2_ENST00000538387.1_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.A323V|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.A323V|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.A323V	p.A323V	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			6	1718	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		323						Missense_Mutation	SNP	ENST00000395805.2	37	c.968C>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744885	0.49151	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000438006;ENST00000537108	T;T;D;T;D;T	0.95342	2.5;-0.56;-3.68;-0.56;-3.68;2.51	5.43	2.49	0.30216	.	0.374974	0.28977	N	0.013523	D	0.85818	0.5785	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.17852	0.011;0.024;0.024;0.019;0.011	B;B;B;B;B	0.17979	0.006;0.02;0.005;0.007;0.005	T	0.78765	-0.2076	10	0.33940	T	0.23	-2.5493	6.0781	0.19927	0.3911:0.0:0.6089:0.0	.	323;323;323;323;323	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	V	69;323;323;323;323;49;242	ENSP00000415407:A69V;ENSP00000298892:A323V;ENSP00000379150:A323V;ENSP00000251071:A323V;ENSP00000391479:A323V;ENSP00000438010:A242V	ENSP00000251071:A323V	A	-	2	0	CAPRIN2	30775636	0.636000	0.27207	1.000000	0.80357	0.872000	0.50106	0.569000	0.23638	1.220000	0.43490	0.650000	0.86243	GCC		0.363	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		38	25	0	0	0	1	0	38	25				
RANBP6	26953	broad.mit.edu	37	9	6012686	6012686	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:6012686G>A	ENST00000259569.5	-	1	2932	c.2922C>T	c.(2920-2922)gtC>gtT	p.V974V	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	974					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTGTAGCAATGACATTTTTTT	0.363																																						ENST00000259569.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2920-2922)gtC>gtT		RAN binding protein 6							112.0	104.0	107.0					9																	6012686		2203	4300	6503	SO:0001819	synonymous_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012686G>A	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2922C>T	9.37:g.6012686G>A							p.V974V	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2932	-		Acute lymphoblastic leukemia(23;0.158)	974					Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	c.2922C>T	CCDS6467.1																																																																																				0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		37	71	0	0	0	1	0	37	71				
PAMR1	25891	broad.mit.edu	37	11	35515735	35515735	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:35515735G>A	ENST00000378880.2	-	2	604	c.159C>T	c.(157-159)tgC>tgT	p.C53C	PAMR1_ENST00000278360.3_Silent_p.C53C|PAMR1_ENST00000378878.3_Silent_p.C53C|PAMR1_ENST00000532848.1_Silent_p.C13C|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	53	Cys-rich.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CGGGGCAGACGCACTCAATCT	0.507																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(157-159)tgC>tgT		peptidase domain containing associated with muscle regeneration 1							225.0	174.0	191.0					11																	35515735		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35515735G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.159C>T	11.37:g.35515735G>A						PAMR1_ENST00000378878.3_Silent_p.C53C|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Silent_p.C53C|PAMR1_ENST00000532848.1_Silent_p.C13C	p.C53C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			2	604	-			53			Cys-rich.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.159C>T	CCDS31460.1																																																																																				0.507	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		5	145	0	0	0	1	0	5	145				
ZNF761	388561	broad.mit.edu	37	19	53960233	53960233	+	RNA	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:53960233G>A	ENST00000454407.1	+	0	2925							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATACTGGAGAGAAACCATAAA	0.403																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53960233G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53960233G>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	2925	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.403	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		7	16	0	0	0	1	0	7	16				
TLR5	7100	broad.mit.edu	37	1	223284385	223284385	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:223284385G>A	ENST00000540964.1	-	4	2450	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F	TLR5_ENST00000342210.6_Silent_p.F663F			O60602	TLR5_HUMAN	toll-like receptor 5	663			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGAAGCCCCGGAACTTTGTGA	0.443																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1987-1989)ttC>ttT		toll-like receptor 5							61.0	67.0	65.0					1																	223284385		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284385G>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1989C>T	1.37:g.223284385G>A						TLR5_ENST00000342210.6_Silent_p.F663F	p.F663F			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2450	-			663		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.1989C>T	CCDS31033.1																																																																																				0.443	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		5	75	0	0	0	1	0	5	75				
PCDHGA7	56108	broad.mit.edu	37	5	140762697	140762697	+	Silent	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:140762697G>C	ENST00000518325.1	+	1	231	c.231G>C	c.(229-231)ctG>ctC	p.L77L	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	77	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCGCCCTGAACCAGCGCA	0.622																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(229-231)ctG>ctC									52.0	61.0	58.0					5																	140762697		2190	4298	6488	SO:0001819	synonymous_variant	56108							g.chr5:140762697G>C	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.231G>C	5.37:g.140762697G>C						PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.L77L	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	231	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.231G>C	CCDS54927.1																																																																																				0.622	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		61	82	0	0	0	1	0	61	82				
DHCR7	1717	broad.mit.edu	37	11	71146832	71146832	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:71146832G>A	ENST00000355527.3	-	9	1293	c.1017C>T	c.(1015-1017)ggC>ggT	p.G339G	DHCR7_ENST00000407721.2_Silent_p.G339G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	339					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GCAGCAGGACGCCCACGGCGT	0.677									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(1015-1017)ggC>ggT		7-dehydrocholesterol reductase	NADH(DB00157)						28.0	29.0	29.0					11																	71146832		2197	4293	6490	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146832G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1017C>T	11.37:g.71146832G>A						DHCR7_ENST00000407721.2_Silent_p.G339G	p.G339G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			9	1293	-			339					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.1017C>T	CCDS8200.1	.	.	.	.	.	.	.	.	.	.	G	8.540	0.873054	0.17322	.	.	ENSG00000172893	ENST00000525137	D	0.99388	-5.81	5.08	2.05	0.26809	.	.	.	.	.	D	0.97888	0.9306	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.95273	0.8379	6	0.38643	T	0.18	-29.9023	2.3733	0.04336	0.172:0.1476:0.5286:0.1518	.	.	.	.	V	173	ENSP00000435956:A173V	ENSP00000435956:A173V	A	-	2	0	DHCR7	70824480	0.036000	0.19791	0.944000	0.38274	0.360000	0.29518	-0.332000	0.07904	0.550000	0.28991	-0.224000	0.12420	GCG		0.677	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		22	36	0	0	0	1	0	22	36				
SLIT1	6585	broad.mit.edu	37	10	98760970	98760970	+	Missense_Mutation	SNP	G	G	A	rs147599893		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:98760970G>A	ENST00000266058.4	-	37	4749	c.4504C>T	c.(4504-4506)Cgg>Tgg	p.R1502W	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.F1460F	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1502	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCTTCAGCCGAAGGCCCTGG	0.647																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(4504-4506)Cgg>Tgg		slit homolog 1 (Drosophila)		G	TRP/ARG	0,4406		0,0,2203	70.0	76.0	74.0		4504	4.8	1.0	10	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLIT1	NM_003061.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1502/1535	98760970	1,13005	2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98760970G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4504C>T	10.37:g.98760970G>A	ENSP00000266058:p.Arg1502Trp					SLIT1_ENST00000371070.4_Silent_p.F1460F|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	p.R1502W	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	37	4749	-		Colorectal(252;0.162)	1502			CTCK.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4504C>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473591	0.84640	0.0	1.16E-4	ENSG00000187122	ENST00000266058	D	0.82893	-1.66	4.82	4.82	0.62117	Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91212	0.7231	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92340	0.5881	10	0.87932	D	0	.	18.0843	0.89453	0.0:0.0:1.0:0.0	.	1502	O75093	SLIT1_HUMAN	W	1502	ENSP00000266058:R1502W	ENSP00000266058:R1502W	R	-	1	2	SLIT1	98750960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.993000	0.40747	2.498000	0.84270	0.561000	0.74099	CGG		0.647	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		5	155	0	0	0	1	0	5	155				
NUDT14	256281	broad.mit.edu	37	14	105643040	105643040	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:105643040G>A	ENST00000392568.2	-	4	352	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	87	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.R87G(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TGTAGCTCCCGAGGCCCGTCC	0.667										HNSCC(42;0.11)																												ENST00000392568.2																			1	Substitution - Missense(1)	p.R87G(1)	upper_aerodigestive_tract(1)	cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.(259-261)Cgg>Tgg		nudix (nucleoside diphosphate linked moiety X)-type motif 14							44.0	45.0	45.0					14																	105643040		2199	4289	6488	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105643040G>A	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.259C>T	14.37:g.105643040G>A	ENSP00000376349:p.Arg87Trp	HNSCC(42;0.11)				RP11-44N21.4_ENST00000548203.1_RNA	p.R87W	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	4	352	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	87			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.259C>T	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	G	8.326	0.825452	0.16749	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	.	.	.	3.61	1.75	0.24633	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.753271	0.12175	N	0.492693	T	0.27731	0.0682	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.24333	-1.0163	9	0.72032	D	0.01	-9.3657	4.5829	0.12267	0.1164:0.0:0.6684:0.2152	.	87	O95848	NUD14_HUMAN	W	87	.	ENSP00000376349:R87W	R	-	1	2	NUDT14	104714085	0.218000	0.23608	0.001000	0.08648	0.025000	0.11179	2.679000	0.46909	0.503000	0.28060	0.563000	0.77884	CGG		0.667	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		47	48	0	0	0	1	0	47	48				
PPEF1	5475	broad.mit.edu	37	X	18748409	18748409	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:18748409G>A	ENST00000361511.4	+	5	651	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Missense_Mutation_p.E53K|PPEF1_ENST00000349874.5_Missense_Mutation_p.E53K|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.E53K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	53					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATATGCTGATGAACAAGGCCA	0.428																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(157-159)Gaa>Aaa		protein phosphatase, EF-hand calcium binding domain 1							248.0	187.0	207.0					X																	18748409		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18748409G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.157G>A	X.37:g.18748409G>A	ENSP00000354871:p.Glu53Lys					PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000349874.5_Missense_Mutation_p.E53K|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Missense_Mutation_p.E53K|PPEF1_ENST00000359763.6_Missense_Mutation_p.E53K	p.E53K	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			5	651	+	Hepatocellular(33;0.183)		53					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.157G>A	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163963	0.57476	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.30981	2.85;2.81;2.74;1.51	5.85	4.96	0.65561	.	0.000000	0.53938	D	0.000041	T	0.55955	0.1953	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.997	T	0.56117	-0.8032	10	0.41790	T	0.15	-27.3215	14.8748	0.70485	0.0:0.1398:0.8602:0.0	.	53;53;53	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	K	53	ENSP00000354871:E53K;ENSP00000352806:E53K;ENSP00000341892:E53K;ENSP00000437785:E53K	ENSP00000341892:E53K	E	+	1	0	PPEF1	18658330	1.000000	0.71417	0.392000	0.26245	0.034000	0.12701	6.723000	0.74742	2.467000	0.83353	0.594000	0.82650	GAA		0.428	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		101	11	0	0	0	1	0	101	11				
SDK2	54549	broad.mit.edu	37	17	71419642	71419642	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:71419642C>G	ENST00000392650.3	-	14	1780	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	SDK2_ENST00000388726.3_Missense_Mutation_p.E594Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	594	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACTGGGTGCTCGGGCGCGTGG	0.612																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1780-1782)Gag>Cag		sidekick cell adhesion molecule 2							59.0	48.0	52.0					17																	71419642		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71419642C>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1780G>C	17.37:g.71419642C>G	ENSP00000376421:p.Glu594Gln					SDK2_ENST00000388726.3_Missense_Mutation_p.E594Q	p.E594Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			14	1780	-			594			Fibronectin type-III 1.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.1780G>C	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	8.040	0.763565	0.15914	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.52754	0.65;0.65	5.83	5.83	0.93111	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	N	0.21583	0.68	0.80722	D	1	B;B	0.19817	0.039;0.008	B;B	0.23574	0.028;0.047	T	0.17592	-1.0364	10	0.13470	T	0.59	.	20.1201	0.97957	0.0:1.0:0.0:0.0	.	594;594	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	Q	218;594;594;594	ENSP00000376421:E594Q;ENSP00000373378:E594Q	ENSP00000324967:E594Q	E	-	1	0	SDK2	68931237	1.000000	0.71417	0.965000	0.40720	0.280000	0.26924	4.447000	0.60020	2.752000	0.94435	0.655000	0.94253	GAG		0.612	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		15	5	0	0	0	1	0	15	5				
GPR45	11250	broad.mit.edu	37	2	105859151	105859151	+	Missense_Mutation	SNP	G	G	A	rs539216616		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:105859151G>A	ENST00000258456.1	+	1	952	c.836G>A	c.(835-837)tGc>tAc	p.C279Y		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TTCTCCCTCTGCTGGCTGCCC	0.612																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(835-837)tGc>tAc		G protein-coupled receptor 45							187.0	180.0	182.0					2																	105859151		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859151G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.836G>A	2.37:g.105859151G>A	ENSP00000258456:p.Cys279Tyr						p.C279Y	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	952	+			279					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.836G>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935831	0.73442	.	.	ENSG00000135973	ENST00000258456	T	0.54279	0.58	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78868	0.4351	M	0.93420	3.415	0.80722	D	1	D	0.55605	0.972	D	0.65987	0.94	D	0.85409	0.1136	10	0.87932	D	0	-34.1746	17.1015	0.86651	0.0:0.0:1.0:0.0	.	279	Q9Y5Y3	GPR45_HUMAN	Y	279	ENSP00000258456:C279Y	ENSP00000258456:C279Y	C	+	2	0	GPR45	105225583	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.431000	0.66507	2.365000	0.80145	0.462000	0.41574	TGC		0.612	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		23	241	0	0	0	1	0	23	241				
ACE	1636	broad.mit.edu	37	17	61556405	61556405	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:61556405C>G	ENST00000290866.4	+	3	479	c.455C>G	c.(454-456)tCc>tGc	p.S152C	ACE_ENST00000538928.1_Missense_Mutation_p.S152C|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S152C	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	152	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)	AGGATCTACTCCACCGCCAAG	0.637											OREG0024639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										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.(454-456)tCc>tGc		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)						124.0	80.0	95.0					17																	61556405		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.chr17:61556405C>G	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.455C>G	17.37:g.61556405C>G	ENSP00000290866:p.Ser152Cys		OREG0024639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	ACE_ENST00000538928.1_Missense_Mutation_p.S152C|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S152C	p.S152C	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			3	479	+			152			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.455C>G	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678508	0.68042	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.37584	1.19;1.19;1.19	4.64	3.66	0.41972	.	0.242395	0.42964	D	0.000625	T	0.69242	0.3089	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.986	T	0.78740	-0.2086	10	0.72032	D	0.01	-25.0584	13.1656	0.59569	0.0:0.9212:0.0:0.0788	.	152;152	F5H1K1;P12821	.;ACE_HUMAN	C	152	ENSP00000439591:S152C;ENSP00000290866:S152C;ENSP00000397593:S152C	ENSP00000290866:S152C	S	+	2	0	ACE	58910137	1.000000	0.71417	0.983000	0.44433	0.789000	0.44602	2.981000	0.49329	1.073000	0.40885	-0.291000	0.09656	TCC		0.637	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			5	17	0	0	0	1	0	5	17				
SLC25A22	79751	broad.mit.edu	37	11	800350	800350	+	5'Flank	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:800350G>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Nonsense_Mutation_p.Q715*|PIDD_ENST00000411829.2_Intron	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCACAGCCTGAGCCTCCCGG	0.642																																					Colon(93;848 1468 3270 23355 49636)	ENST00000347755.5																			0											c.(2143-2145)Cag>Tag		p53-induced death domain protein							51.0	52.0	51.0					11																	800350		2202	4299	6501	SO:0001631	upstream_gene_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:800350G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800350G>A	Exception_encountered					PIDD_ENST00000411829.2_Intron	p.Q715*	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			13	2284	-			715					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Nonsense_Mutation	SNP	ENST00000531214.1	37	c.2143C>T	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	G	39	7.651434	0.98412	.	.	ENSG00000177595	ENST00000347755	.	.	.	4.24	4.24	0.50183	.	0.235809	0.37095	N	0.002243	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.0847	0.48080	0.0:0.0:0.8148:0.1852	.	.	.	.	X	715	.	ENSP00000337797:Q715X	Q	-	1	0	PIDD	790350	1.000000	0.71417	0.980000	0.43619	0.695000	0.40330	4.769000	0.62300	2.193000	0.70182	0.462000	0.41574	CAG		0.642	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384124.1			23	44	0	0	0	1	0	23	44				
CP	1356	broad.mit.edu	37	3	148903144	148903144	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:148903144C>G	ENST00000264613.6	-	12	2429	c.2167G>C	c.(2167-2169)Gag>Cag	p.E723Q	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	723					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTGGAATCCTCAGACTGCCGC	0.478																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2167-2169)Gag>Cag		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						177.0	168.0	171.0					3																	148903144		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148903144C>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2167G>C	3.37:g.148903144C>G	ENSP00000264613:p.Glu723Gln					CP_ENST00000462336.1_5'UTR	p.E723Q	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2429	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	723					Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2167G>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	2.754	-0.259453	0.05791	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98926	-5.24;-5.24	5.63	0.615	0.17608	.	0.806293	0.12094	N	0.500113	D	0.93818	0.8023	N	0.16098	0.37	0.09310	N	1	B;B;B	0.16603	0.018;0.018;0.018	B;B;B	0.15052	0.012;0.012;0.012	D	0.87035	0.2137	10	0.15952	T	0.53	-1.895	6.3881	0.21572	0.0:0.5569:0.2412:0.202	.	723;723;723	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	Q	723;506	ENSP00000264613:E723Q;ENSP00000420545:E506Q	ENSP00000264613:E723Q	E	-	1	0	CP	150385834	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.149000	0.10204	-0.171000	0.10797	0.455000	0.32223	GAG		0.478	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		83	300	0	0	0	1	0	83	300				
NPIPB4	440345	broad.mit.edu	37	16	21847243	21847243	+	Intron	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:21847243G>C	ENST00000415645.2	-	8	2422				NPIPB4_ENST00000451409.1_Nonsense_Mutation_p.S597*|NPIPB4_ENST00000357370.5_Nonsense_Mutation_p.S616*|NPIPB4_ENST00000537951.1_Intron			C9JG80	NPIB4_HUMAN	nuclear pore complex interacting protein family, member B4							integral component of membrane (GO:0016021)											CAGGTGTCTTGATATTATCAT	0.597																																						ENST00000451409.1																			0											c.(1789-1791)tCa>tGa		nuclear pore complex interacting protein family, member B4																																				SO:0001627	intron_variant	440345							g.chr16:21847243G>C			16p12.2	2013-06-11			ENSG00000185864	ENSG00000185864			41985	protein-coding gene	gene with protein product							Standard	XM_006721108		Approved			C9JG80	OTTHUMG00000163555	ENST00000415645.2:c.2383-57C>G	16.37:g.21847243G>C						NPIPB4_ENST00000415645.2_Intron|NPIPB4_ENST00000357370.5_Nonsense_Mutation_p.S616*|NPIPB4_ENST00000537951.1_Intron	p.S597*							9	2617	-									Nonsense_Mutation	SNP	ENST00000415645.2	37	c.1790C>G		.	.	.	.	.	.	.	.	.	.	.	25.2	4.615970	0.87359	.	.	ENSG00000185864	ENST00000357370;ENST00000451409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	.	.	.	.	.	.	.	X	616;597	.	ENSP00000349936:S616X	S	-	2	0	RP11-645C24.1	21754744	.	.	.	.	.	.	.	.	.	.	.	.	TCA		0.597	NPIPB4-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				44	55	0	0	0	1	0	44	55				
FCRL3	115352	broad.mit.edu	37	1	157667192	157667192	+	Silent	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:157667192C>A	ENST00000368184.3	-	6	873	c.582G>T	c.(580-582)ctG>ctT	p.L194L	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.L194L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	194	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCTGGCTCTCAGCACAGGAT	0.527																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(580-582)ctG>ctT		Fc receptor-like 3							58.0	62.0	61.0					1																	157667192		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667192C>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.582G>T	1.37:g.157667192C>A						FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.L194L	p.L194L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			6	873	-	all_hematologic(112;0.0378)		194			Ig-like C2-type 3.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.582G>T	CCDS1167.1																																																																																				0.527	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		19	48	1	0	0.000175454	1	0.00017821	19	48				
DAXX	1616	broad.mit.edu	37	6	33288805	33288805	+	Silent	SNP	G	G	A	rs140033328		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:33288805G>A	ENST00000374542.5	-	3	951	c.747C>T	c.(745-747)acC>acT	p.T249T	DAXX_ENST00000414083.2_Silent_p.T174T|DAXX_ENST00000266000.6_Silent_p.T249T|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	249	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGACACGGCCGGTCAGTGAAG	0.582			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(745-747)acC>acT		death-domain associated protein		G	,,	1,4405	2.1+/-5.4	0,1,2202	70.0	65.0	67.0		747,783,747	-9.3	0.0	6	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DAXX	NM_001141969.1,NM_001141970.1,NM_001350.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	249/741,261/753,249/741	33288805	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288805G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.747C>T	6.37:g.33288805G>A						DAXX_ENST00000266000.6_Silent_p.T249T|DAXX_ENST00000414083.2_Silent_p.T174T|DAXX_ENST00000477162.1_Intron	p.T249T	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			3	951	-			249					B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.747C>T	CCDS4776.1																																																																																				0.582	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			35	59	0	0	0	1	0	35	59				
SLC34A3	142680	broad.mit.edu	37	9	140127073	140127073	+	Silent	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:140127073C>G	ENST00000538474.1	+	4	446	c.222C>G	c.(220-222)ctC>ctG	p.L74L	SLC34A3_ENST00000361134.2_Silent_p.L74L	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	74					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGCGTCCTCAAGGCCTGCG	0.692																																						ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(220-222)ctC>ctG		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							42.0	45.0	44.0					9																	140127073		2202	4297	6499	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140127073C>G	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.222C>G	9.37:g.140127073C>G						SLC34A3_ENST00000361134.2_Silent_p.L74L	p.L74L	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	4	446	+	all_cancers(76;0.0926)		74					A2BFA1	Silent	SNP	ENST00000538474.1	37	c.222C>G	CCDS7038.1																																																																																				0.692	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		74	75	0	0	0	1	0	74	75				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	107	0	0	0	1	0	4	107				
PCNX	22990	broad.mit.edu	37	14	71445160	71445160	+	Missense_Mutation	SNP	T	T	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:71445160T>G	ENST00000304743.2	+	6	2552	c.2106T>G	c.(2104-2106)aaT>aaG	p.N702K	PCNX_ENST00000238570.5_Missense_Mutation_p.N702K|PCNX_ENST00000439984.3_Missense_Mutation_p.N702K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	702						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CATGTTTGAATGACTCAAACA	0.473																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(2104-2106)aaT>aaG		pecanex homolog (Drosophila)							113.0	101.0	105.0					14																	71445160		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71445160T>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2106T>G	14.37:g.71445160T>G	ENSP00000304192:p.Asn702Lys					PCNX_ENST00000238570.5_Missense_Mutation_p.N702K|PCNX_ENST00000439984.3_Missense_Mutation_p.N702K	p.N702K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2552	+			702					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.2106T>G	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	T	8.811	0.935297	0.18206	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.00966	5.49;5.49;5.49	5.87	0.999	0.19862	.	0.110707	0.64402	D	0.000015	T	0.01156	0.0038	L	0.47716	1.5	0.48762	D	0.999701	P;P;D	0.55385	0.877;0.877;0.971	B;B;P	0.47075	0.265;0.265;0.536	T	0.61978	-0.6951	10	0.06236	T	0.91	.	9.3589	0.38184	0.0:0.2665:0.0:0.7335	.	702;702;702	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	K	702	ENSP00000304192:N702K;ENSP00000238570:N702K;ENSP00000396617:N702K	ENSP00000238570:N702K	N	+	3	2	PCNX	70514913	1.000000	0.71417	0.999000	0.59377	0.408000	0.30992	1.081000	0.30791	0.148000	0.19059	0.533000	0.62120	AAT		0.473	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		62	72	0	0	0	1	0	62	72				
TRRAP	8295	broad.mit.edu	37	7	98515050	98515050	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:98515050G>A	ENST00000359863.4	+	20	2579	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	TRRAP_ENST00000446306.3_Silent_p.L789L|TRRAP_ENST00000355540.3_Silent_p.L790L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	790					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)			CCCTAGGGCTGAACATGCTTC	0.582																																						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.(2368-2370)ctG>ctA		transformation/transcription domain-associated protein							105.0	95.0	98.0					7																	98515050		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:98515050G>A	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.2370G>A	7.37:g.98515050G>A						TRRAP_ENST00000446306.3_Silent_p.L789L|TRRAP_ENST00000355540.3_Silent_p.L790L	p.L790L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		20	2579	+	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)		790					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.2370G>A	CCDS59066.1																																																																																				0.582	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		106	15	0	0	0	1	0	106	15				
ESYT3	83850	broad.mit.edu	37	3	138178050	138178050	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:138178050C>T	ENST00000389567.4	+	5	789	c.603C>T	c.(601-603)atC>atT	p.I201I	ESYT3_ENST00000289135.4_Silent_p.I201I	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	201	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACTGTGAGATCAGTGTGGAGC	0.602																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(601-603)atC>atT		extended synaptotagmin-like protein 3							160.0	159.0	159.0					3																	138178050		2203	4300	6503	SO:0001819	synonymous_variant	83850					integral to membrane|plasma membrane		g.chr3:138178050C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.603C>T	3.37:g.138178050C>T						ESYT3_ENST00000289135.4_Silent_p.I201I	p.I201I	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			5	789	+			201					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	ENST00000389567.4	37	c.603C>T	CCDS3101.2																																																																																				0.602	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		78	253	0	0	0	1	0	78	253				
TRRAP	8295	broad.mit.edu	37	7	98606091	98606091	+	Silent	SNP	C	C	T	rs373922070		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:98606091C>T	ENST00000359863.4	+	69	11012	c.10803C>T	c.(10801-10803)tgC>tgT	p.C3601C	TRRAP_ENST00000446306.3_Silent_p.C3590C|TRRAP_ENST00000355540.3_Silent_p.C3572C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3601	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			AGCAGCGCTGCGCCAAGAAGG	0.617																																						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.(10801-10803)tgC>tgT		transformation/transcription domain-associated protein		C		0,4406		0,0,2203	127.0	111.0	116.0		10716	-1.1	1.0	7		116	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRRAP	NM_003496.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		3572/3831	98606091	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:98606091C>T	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.10803C>T	7.37:g.98606091C>T						TRRAP_ENST00000446306.3_Silent_p.C3590C|TRRAP_ENST00000355540.3_Silent_p.C3572C	p.C3601C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		69	11012	+	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)		3601			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.10803C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373929	0.24857	0.0	1.16E-4	ENSG00000196367	ENST00000456197	.	.	.	5.54	-1.09	0.09904	.	.	.	.	.	T	0.64616	0.2614	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60495	-0.7252	4	.	.	.	.	12.8747	0.57984	0.0:0.49:0.0:0.51	.	.	.	.	V	3330	.	.	A	+	2	0	TRRAP	98444027	0.140000	0.22579	0.990000	0.47175	0.997000	0.91878	-0.473000	0.06615	-0.439000	0.07222	0.655000	0.94253	GCG		0.617	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		54	81	0	0	0	1	0	54	81				
PIK3AP1	118788	broad.mit.edu	37	10	98386580	98386580	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:98386580G>A	ENST00000339364.5	-	10	1673	c.1554C>T	c.(1552-1554)gaC>gaT	p.D518D	PIK3AP1_ENST00000371110.2_Silent_p.D340D|PIK3AP1_ENST00000371109.3_Silent_p.D117D|PIK3AP1_ENST00000468783.1_5'Flank	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	518					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGGCCTCATCGTCATCCACCG	0.552																																						ENST00000339364.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(1552-1554)gaC>gaT		phosphoinositide-3-kinase adaptor protein 1							178.0	152.0	161.0					10																	98386580		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98386580G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1554C>T	10.37:g.98386580G>A						PIK3AP1_ENST00000371110.2_Silent_p.D340D|PIK3AP1_ENST00000371109.3_Silent_p.D117D	p.D518D	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	10	1673	-		Colorectal(252;0.0442)	518					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.1554C>T	CCDS31259.1																																																																																				0.552	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		41	66	0	0	0	1	0	41	66				
SUGP1	57794	broad.mit.edu	37	19	19414202	19414202	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:19414202C>T	ENST00000247001.5	-	6	1065	c.718G>A	c.(718-720)Gag>Aag	p.E240K	SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	240					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTTCTTATCTCAGCCACCTTC	0.507																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(718-720)Gag>Aag		SURP and G patch domain containing 1							163.0	147.0	152.0					19																	19414202		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19414202C>T	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.718G>A	19.37:g.19414202C>T	ENSP00000247001:p.Glu240Lys					SUGP1_ENST00000585763.1_5'UTR	p.E240K	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			6	1065	-			240					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.718G>A	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175885	0.94807	.	.	ENSG00000105705	ENST00000247001	T	0.52057	0.68	5.02	5.02	0.67125	SWAP/Surp (1);	0.060528	0.64402	D	0.000006	T	0.67230	0.2871	M	0.79343	2.45	0.80722	D	1	D	0.64830	0.994	D	0.64506	0.926	T	0.70070	-0.4973	10	0.51188	T	0.08	.	15.0443	0.71816	0.0:1.0:0.0:0.0	.	240	Q8IWZ8	SUGP1_HUMAN	K	240	ENSP00000247001:E240K	ENSP00000247001:E240K	E	-	1	0	SUGP1	19275202	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	5.975000	0.70475	2.346000	0.79739	0.655000	0.94253	GAG		0.507	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		64	75	0	0	0	1	0	64	75				
TMEM178A	130733	broad.mit.edu	37	2	39934241	39934241	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:39934241C>T	ENST00000281961.2	+	3	623	c.567C>T	c.(565-567)ctC>ctT	p.L189L	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	189						integral component of membrane (GO:0016021)											CCGTCCTTCTCTGCGGCTGCA	0.512																																						ENST00000281961.2																			0											c.(565-567)ctC>ctT		transmembrane protein 178A							72.0	64.0	67.0					2																	39934241		2203	4300	6503	SO:0001819	synonymous_variant	130733							g.chr2:39934241C>T	BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.567C>T	2.37:g.39934241C>T						TMEM178A_ENST00000482239.1_3'UTR	p.L189L	NM_152390.2	NP_689603.2					3	623	+								Q6UWI6|Q8N6N4	Silent	SNP	ENST00000281961.2	37	c.567C>T	CCDS1804.1																																																																																				0.512	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250445.2	NM_152390		39	38	0	0	0	1	0	39	38				
ODF2	4957	broad.mit.edu	37	9	131246304	131246304	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:131246304G>A	ENST00000434106.3	+	11	1438	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ODF2_ENST00000444119.2_Missense_Mutation_p.E335K|ODF2_ENST00000372807.5_Missense_Mutation_p.E354K|ODF2_ENST00000393527.3_Missense_Mutation_p.E335K|ODF2_ENST00000448249.3_Missense_Mutation_p.E278K|ODF2_ENST00000372814.3_Missense_Mutation_p.E403K|ODF2_ENST00000372791.3_Missense_Mutation_p.E340K|ODF2_ENST00000546203.1_Missense_Mutation_p.E340K|ODF2_ENST00000604420.1_Missense_Mutation_p.E359K|ODF2_ENST00000393533.2_Missense_Mutation_p.E359K|ODF2_ENST00000351030.3_Missense_Mutation_p.E354K	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	359					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAAAGAGGCTGAGAACAGTCG	0.557																																						ENST00000303890.5																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1003-1005)Gag>Aag		outer dense fiber of sperm tails 2							100.0	92.0	95.0					9																	131246304		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131246304G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1075G>A	9.37:g.131246304G>A	ENSP00000403453:p.Glu359Lys					ODF2_ENST00000372791.3_Missense_Mutation_p.E340K|ODF2_ENST00000372796.4_Missense_Mutation_p.E359K|ODF2_ENST00000546203.1_Missense_Mutation_p.E340K|ODF2_ENST00000372807.5_Missense_Mutation_p.E354K|ODF2_ENST00000393533.2_Missense_Mutation_p.E359K|ODF2_ENST00000444119.2_Missense_Mutation_p.E335K|ODF2_ENST00000448249.3_Missense_Mutation_p.E278K|ODF2_ENST00000372814.3_Missense_Mutation_p.E403K|ODF2_ENST00000434106.2_Missense_Mutation_p.E359K|ODF2_ENST00000351030.3_Missense_Mutation_p.E354K	p.E335K	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			13	1588	+			359					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1003G>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636114	0.87760	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.49720	0.98;0.98;0.98;0.98;0.77;0.98;0.98;0.98	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.67534	0.2903	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.79784	0.974;0.988;0.989;0.976;0.988;0.992;0.993;0.974;0.983;0.988	T	0.65994	-0.6033	10	0.51188	T	0.08	-28.3153	18.6105	0.91283	0.0:0.0:1.0:0.0	.	340;354;278;293;359;403;354;340;359;335	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	K	359;403;354;359;335;278;340;340	ENSP00000377166:E359K;ENSP00000361901:E403K;ENSP00000342581:E354K;ENSP00000361882:E359K;ENSP00000307781:E335K;ENSP00000396687:E278K;ENSP00000437579:E340K;ENSP00000361877:E340K	ENSP00000307781:E335K	E	+	1	0	ODF2	130286125	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	6.271000	0.72569	2.749000	0.94314	0.655000	0.94253	GAG		0.557	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			42	42	0	0	0	1	0	42	42				
ATP10B	23120	broad.mit.edu	37	5	160025845	160025845	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:160025845C>T	ENST00000327245.5	-	22	4342	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1166					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGTCTTTGTCAAGGACTCCA	0.483																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(3496-3498)Gac>Aac		ATPase, class V, type 10B							218.0	208.0	211.0					5																	160025845		1928	4127	6055	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160025845C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3496G>A	5.37:g.160025845C>T	ENSP00000313600:p.Asp1166Asn						p.D1166N	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		22	4342	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1166					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.3496G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233555	0.95207	.	.	ENSG00000118322	ENST00000327245	D	0.90620	-2.7	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98247	1.0491	9	.	.	.	.	18.0244	0.89264	0.0:1.0:0.0:0.0	.	1166	O94823	AT10B_HUMAN	N	1166	ENSP00000313600:D1166N	.	D	-	1	0	ATP10B	159958423	1.000000	0.71417	0.968000	0.41197	0.886000	0.51366	7.726000	0.84824	2.495000	0.84180	0.655000	0.94253	GAC		0.483	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		160	178	0	0	0	1	0	160	178				
TTN	7273	broad.mit.edu	37	2	179414043	179414043	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:179414043G>C	ENST00000591111.1	-	289	87611	c.87387C>G	c.(87385-87387)atC>atG	p.I29129M	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I21897M|TTN_ENST00000342992.6_Missense_Mutation_p.I28202M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I21830M|TTN_ENST00000589042.1_Missense_Mutation_p.I30770M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I21705M|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29129	Fibronectin type-III 112. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGTTTGCTGATCACTTTTA	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(92308-92310)atC>atG		titin							172.0	165.0	167.0					2																	179414043		1960	4149	6109	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414043G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87387C>G	2.37:g.179414043G>C	ENSP00000465570:p.Ile29129Met					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I21705M|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I21830M|TTN_ENST00000342992.6_Missense_Mutation_p.I28202M|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I21897M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I29129M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.I30770M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	92534	-			29129			Fibronectin type-III 124.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.92310C>G		.	.	.	.	.	.	.	.	.	.	G	13.02	2.113292	0.37339	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.74	3.91	0.45181	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43166	0.1235	N	0.17474	0.49	0.33461	D	0.585004	P;P;P;P	0.37612	0.602;0.602;0.602;0.602	P;P;P;P	0.45377	0.478;0.478;0.478;0.478	T	0.57254	-0.7843	9	0.87932	D	0	.	8.4886	0.33086	0.0694:0.0:0.6548:0.2758	.	21705;21830;21897;29129	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	28202;21705;21897;21830;21702	ENSP00000343764:I28202M;ENSP00000434586:I21705M;ENSP00000340554:I21897M;ENSP00000352154:I21830M	ENSP00000340554:I21897M	I	-	3	3	TTN	179122289	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	2.552000	0.45828	0.854000	0.35336	0.563000	0.77884	ATC		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	78	0	0	0	1	0	46	78				
KANK3	256949	broad.mit.edu	37	19	8389622	8389622	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:8389622C>T	ENST00000593649.1	-	9	2240	c.2175G>A	c.(2173-2175)caG>caA	p.Q725Q	KANK3_ENST00000330915.3_Silent_p.Q725Q			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	725										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CATCCGCATCCTGCGCATTCA	0.657																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2173-2175)caG>caA		KN motif and ankyrin repeat domains 3							57.0	46.0	50.0					19																	8389622		2203	4300	6503	SO:0001819	synonymous_variant	256949							g.chr19:8389622C>T	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2175G>A	19.37:g.8389622C>T						KANK3_ENST00000593649.1_Silent_p.Q725Q	p.Q725Q	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			9	2240	-			725					Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37	c.2175G>A																																																																																					0.657	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		6	77	0	0	0	1	0	6	77				
ZNF180	7733	broad.mit.edu	37	19	44981932	44981932	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:44981932G>C	ENST00000221327.4	-	5	1047	c.766C>G	c.(766-768)Cag>Gag	p.Q256E	ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.Q229E|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q231E	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGAATGCTCTGAGGGGGTTTT	0.353																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(766-768)Cag>Gag		zinc finger protein 180							79.0	84.0	82.0					19																	44981932		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981932G>C	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.766C>G	19.37:g.44981932G>C	ENSP00000221327:p.Gln256Glu					ZNF180_ENST00000592529.1_Missense_Mutation_p.Q229E|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q231E	p.Q256E	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1047	-		Prostate(69;0.0435)	256					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.766C>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187921	0.21954	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.08282	3.11;3.16	5.2	2.99	0.34606	.	0.189039	0.26190	N	0.025801	T	0.11879	0.0289	M	0.72118	2.19	0.45415	D	0.998395	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.003;0.003	T	0.04347	-1.0958	10	0.33141	T	0.24	-8.1411	13.3076	0.60362	0.0:0.3324:0.6676:0.0	.	231;255;256	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	E	256;231	ENSP00000221327:Q256E;ENSP00000375818:Q231E	ENSP00000221327:Q256E	Q	-	1	0	ZNF180	49673772	0.000000	0.05858	0.492000	0.27490	0.937000	0.57800	0.392000	0.20801	0.529000	0.28599	0.655000	0.94253	CAG		0.353	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		95	118	0	0	0	1	0	95	118				
SEC24C	9632	broad.mit.edu	37	10	75530782	75530782	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:75530782C>G	ENST00000339365.2	+	24	3376	c.3214C>G	c.(3214-3216)Ctg>Gtg	p.L1072V	SEC24C_ENST00000411652.2_Missense_Mutation_p.L953V|SEC24C_ENST00000345254.4_Missense_Mutation_p.L1072V|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.L320V|SEC24C_ENST00000535742.1_Missense_Mutation_p.L320V|FUT11_ENST00000394790.1_5'Flank	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1072					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGACAAGAGTCTGAGTGGGGG	0.493																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(3214-3216)Ctg>Gtg		SEC24 family member C							187.0	187.0	187.0					10																	75530782		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75530782C>G	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.3214C>G	10.37:g.75530782C>G	ENSP00000343405:p.Leu1072Val					SEC24C_ENST00000540668.1_Missense_Mutation_p.L320V|SEC24C_ENST00000535742.1_Missense_Mutation_p.L320V|SEC24C_ENST00000345254.4_Missense_Mutation_p.L1072V|SEC24C_ENST00000411652.2_Missense_Mutation_p.L953V	p.L1072V	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			24	3376	+	Prostate(51;0.0112)		1072					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.3214C>G	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	8.892	0.954305	0.18431	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	6.08	4.19	0.49359	.	0.278461	0.35903	N	0.002913	T	0.25419	0.0618	L	0.52206	1.635	0.41782	D	0.989827	B;B	0.12013	0.005;0.005	B;B	0.11329	0.003;0.006	T	0.06144	-1.0843	10	0.27082	T	0.32	-9.3266	7.8862	0.29651	0.1301:0.7282:0.0:0.1416	.	953;1072	E7EP00;P53992	.;SC24C_HUMAN	V	320;1072;320;1072;953	ENSP00000446174:L320V;ENSP00000321845:L1072V;ENSP00000445023:L320V;ENSP00000343405:L1072V;ENSP00000402913:L953V	ENSP00000343405:L1072V	L	+	1	2	SEC24C	75200788	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	0.630000	0.24553	0.850000	0.35239	0.591000	0.81541	CTG		0.493	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			90	117	0	0	0	1	0	90	117				
CECR1	51816	broad.mit.edu	37	22	17688095	17688095	+	Missense_Mutation	SNP	G	G	C	rs267606172		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr22:17688095G>C	ENST00000399839.1	-	3	678	c.408C>G	c.(406-408)atC>atG	p.I136M	CECR1_ENST00000399837.2_Missense_Mutation_p.I136M|CECR1_ENST00000449907.2_Missense_Mutation_p.I94M|CECR1_ENST00000262607.3_Missense_Mutation_p.I136M	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	136	PRB domain.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGGTGAAACAGATGTGGCAGT	0.527																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(406-408)atC>atG		cat eye syndrome chromosome region, candidate 1							138.0	134.0	136.0					22																	17688095		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17688095G>C	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.408C>G	22.37:g.17688095G>C	ENSP00000382733:p.Ile136Met					CECR1_ENST00000262607.3_Missense_Mutation_p.I136M|CECR1_ENST00000399837.2_Missense_Mutation_p.I136M|CECR1_ENST00000449907.2_Missense_Mutation_p.I94M	p.I136M			Q9NZK5	CECR1_HUMAN			3	678	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	136			PRB domain.		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.408C>G	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	G	8.613	0.889631	0.17540	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837;ENST00000543038	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	4.34	3.31	0.37934	.	0.653432	0.15090	N	0.281141	T	0.66790	0.2825	N	0.13168	0.305	0.34362	D	0.691046	B	0.09022	0.002	B	0.12837	0.008	T	0.62798	-0.6778	10	0.23891	T	0.37	.	7.322	0.26533	0.2779:0.0:0.7221:0.0	.	136	Q9NZK5	CECR1_HUMAN	M	136;136;94;136;136	ENSP00000382733:I136M;ENSP00000262607:I136M;ENSP00000406443:I94M;ENSP00000382731:I136M;ENSP00000442482:I136M	ENSP00000262607:I136M	I	-	3	3	CECR1	16068095	1.000000	0.71417	0.904000	0.35570	0.947000	0.59692	0.469000	0.22067	0.795000	0.33922	0.555000	0.69702	ATC		0.527	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			5	167	0	0	0	1	0	5	167				
PROSER2	254427	broad.mit.edu	37	10	11911722	11911722	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:11911722G>A	ENST00000277570.5	+	4	779	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Missense_Mutation_p.E13K	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	209	Pro-rich.																GGCGGGGAACGAAGCCCTCTC	0.741																																						ENST00000277570.5																			0											c.(625-627)Gaa>Aaa		proline and serine-rich protein 2							10.0	9.0	10.0					10																	11911722		2180	4282	6462	SO:0001583	missense	254427							g.chr10:11911722G>A	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.625G>A	10.37:g.11911722G>A	ENSP00000277570:p.Glu209Lys					PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Missense_Mutation_p.E13K|PROSER2-AS1_ENST00000453242.1_RNA	p.E209K	NM_153256.3	NP_694988.3					4	779	+								D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Missense_Mutation	SNP	ENST00000277570.5	37	c.625G>A	CCDS7085.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999360	0.35226	.	.	ENSG00000148426	ENST00000379208;ENST00000277570;ENST00000379202;ENST00000379200	T;T	0.10860	2.83;2.83	5.29	5.29	0.74685	.	0.399337	0.24022	N	0.042272	T	0.16811	0.0404	L	0.46157	1.445	0.09310	N	1	D	0.69078	0.997	P	0.56474	0.799	T	0.22591	-1.0212	10	0.87932	D	0	-13.8362	4.646	0.12572	0.0824:0.1516:0.6089:0.1571	.	209	Q86WR7	CJ047_HUMAN	K	209;209;209;13	ENSP00000277570:E209K;ENSP00000368498:E13K	ENSP00000277570:E209K	E	+	1	0	C10orf47	11951728	0.937000	0.31787	0.045000	0.18777	0.012000	0.07955	2.972000	0.49256	2.459000	0.83118	0.305000	0.20034	GAA		0.741	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		3	5	0	0	0	1	0	3	5				
SLC34A3	142680	broad.mit.edu	37	9	140127032	140127032	+	Missense_Mutation	SNP	C	C	T	rs532224704	byFrequency	TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:140127032C>T	ENST00000538474.1	+	4	405	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	SLC34A3_ENST00000361134.2_Missense_Mutation_p.R61C	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	61					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCAGAGCTCCGCGTGGCCGG	0.682																																						ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(181-183)Cgc>Tgc		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							22.0	25.0	24.0					9																	140127032		2189	4259	6448	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140127032C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.181C>T	9.37:g.140127032C>T	ENSP00000442397:p.Arg61Cys					SLC34A3_ENST00000361134.2_Missense_Mutation_p.R61C	p.R61C	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	4	405	+	all_cancers(76;0.0926)		61					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.181C>T	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	c	10.95	1.495780	0.26774	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	T;T	0.31510	1.49;1.49	3.74	-1.74	0.08056	.	0.181111	0.36482	N	0.002575	T	0.09774	0.0240	N	0.08118	0	0.09310	N	0.999991	P	0.45212	0.853	B	0.35312	0.2	T	0.30650	-0.9971	10	0.45353	T	0.12	-8.0004	4.028	0.09697	0.4049:0.3713:0.2238:0.0	.	61	Q8N130	NPT2C_HUMAN	C	61	ENSP00000442397:R61C;ENSP00000355353:R61C	ENSP00000355353:R61C	R	+	1	0	SLC34A3	139246853	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-0.058000	0.11750	-0.425000	0.07371	-2.259000	0.00280	CGC		0.682	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		38	50	0	0	0	1	0	38	50				
DNAH5	1767	broad.mit.edu	37	5	13727702	13727702	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:13727702G>A	ENST00000265104.4	-	70	12051	c.11947C>T	c.(11947-11949)Ctt>Ttt	p.L3983F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3983					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3983F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTTGGAAGAGGTTCCTCC	0.413									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.L3983F(1)	kidney(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11947-11949)Ctt>Ttt		dynein, axonemal, heavy chain 5							101.0	103.0	102.0					5																	13727702		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13727702G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11947C>T	5.37:g.13727702G>A	ENSP00000265104:p.Leu3983Phe						p.L3983F	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			70	12051	-	Lung NSC(4;0.00476)		3983					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11947C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110727	0.37242	.	.	ENSG00000039139	ENST00000265104	T	0.10860	2.83	5.7	2.89	0.33648	Dynein heavy chain (1);	0.294319	0.30791	N	0.008870	T	0.08670	0.0215	L	0.45285	1.41	0.35966	D	0.834974	B	0.06786	0.001	B	0.20577	0.03	T	0.20472	-1.0274	10	0.18276	T	0.48	.	7.1749	0.25738	0.1798:0.3177:0.5024:0.0	.	3983	Q8TE73	DYH5_HUMAN	F	3983	ENSP00000265104:L3983F	ENSP00000265104:L3983F	L	-	1	0	DNAH5	13780702	0.632000	0.27172	0.936000	0.37596	0.895000	0.52256	1.025000	0.30090	0.768000	0.33290	-0.143000	0.13931	CTT		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		44	52	0	0	0	1	0	44	52				
PRPF3	9129	broad.mit.edu	37	1	150312892	150312892	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:150312892G>C	ENST00000324862.6	+	9	1386	c.1221G>C	c.(1219-1221)aaG>aaC	p.K407N	PRPF3_ENST00000543398.1_Missense_Mutation_p.E271Q|PRPF3_ENST00000414970.2_Missense_Mutation_p.K358N|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	407					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		AAAATCCCAAGAGAGAAGATT	0.378																																					Ovarian(168;1070 2670 5178 20729)	ENST00000324862.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1219-1221)aaG>aaC		pre-mRNA processing factor 3							78.0	73.0	75.0					1																	150312892		2203	4300	6503	SO:0001583	missense	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150312892G>C	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1221G>C	1.37:g.150312892G>C	ENSP00000315379:p.Lys407Asn					PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.K358N|PRPF3_ENST00000543398.1_Missense_Mutation_p.E271Q	p.K407N	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	9	1386	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		407					B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	ENST00000324862.6	37	c.1221G>C	CCDS951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.89|13.89	2.371899|2.371899	0.42003|0.42003	.|.	.|.	ENSG00000117360|ENSG00000117360	ENST00000543398|ENST00000324862;ENST00000414970	.|D;D	.|0.86030	.|-2.06;-2.06	5.67|5.67	4.76|4.76	0.60689|0.60689	.|Pre-mRNA-splicing factor 3 (1);	.|0.187230	.|0.56097	.|D	.|0.000021	T|T	0.55226|0.55226	0.1907|0.1907	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999997|0.999997	.|B;B	.|0.29646	.|0.155;0.253	.|B;B	.|0.33960	.|0.131;0.173	T|T	0.47649|0.47649	-0.9101|-0.9101	6|10	0.23302|0.13853	T|T	0.38|0.58	-16.6001|-16.6001	10.3452|10.3452	0.43901|0.43901	0.1507:0.0:0.8493:0.0|0.1507:0.0:0.8493:0.0	.|.	.|358;407	.|E7EVD1;O43395	.|.;PRPF3_HUMAN	Q|N	271|407;358	.|ENSP00000315379:K407N;ENSP00000387844:K358N	ENSP00000445421:E271Q|ENSP00000315379:K407N	E|K	+|+	1|3	0|2	PRPF3|PRPF3	148579516|148579516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.941000|1.941000	0.40233|0.40233	1.399000|1.399000	0.46721|0.46721	0.555000|0.555000	0.69702|0.69702	GAG|AAG		0.378	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1	NM_004698		26	47	0	0	0	1	0	26	47				
ZNF292	23036	broad.mit.edu	37	6	87928350	87928350	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:87928350G>A	ENST00000369577.3	+	4	482	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Missense_Mutation_p.E147K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	147						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGGCAGCTGTGAATTGCATTT	0.383																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(439-441)Gaa>Aaa		zinc finger protein 292							35.0	33.0	34.0					6																	87928350		1816	4079	5895	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87928350G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.439G>A	6.37:g.87928350G>A	ENSP00000358590:p.Glu147Lys					ZNF292_ENST00000339907.4_Missense_Mutation_p.E147K|ZNF292_ENST00000369578.2_3'UTR	p.E147K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	4	482	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	147					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.439G>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110151	0.77210	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07327	3.2;3.21	5.08	5.08	0.68730	.	0.159350	0.56097	D	0.000031	T	0.05547	0.0146	L	0.36672	1.1	0.35155	D	0.770121	P;P	0.51057	0.941;0.872	P;B	0.45343	0.477;0.392	T	0.15723	-1.0427	10	0.62326	D	0.03	.	14.9197	0.70829	0.0:0.1435:0.8565:0.0	.	147;147	O60281;Q6ZW83	ZN292_HUMAN;.	K	147	ENSP00000358590:E147K;ENSP00000342847:E147K	ENSP00000342847:E147K	E	+	1	0	ZNF292	87985069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.380000	0.59581	2.361000	0.80049	0.557000	0.71058	GAA		0.383	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		3	1	0	0	0	1	0	3	1				
CCDC88A	55704	broad.mit.edu	37	2	55601988	55601988	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:55601988A>G	ENST00000436346.1	-	4	1146	c.305T>C	c.(304-306)tTg>tCg	p.L102S	CCDC88A_ENST00000263630.8_Missense_Mutation_p.L102S|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L102S|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L102S	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	102					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GACATTTGGCAACGACATCAT	0.308																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(304-306)tTg>tCg		coiled-coil domain containing 88A							94.0	98.0	97.0					2																	55601988		2203	4296	6499	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55601988A>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.305T>C	2.37:g.55601988A>G	ENSP00000410608:p.Leu102Ser					CCDC88A_ENST00000413716.2_Missense_Mutation_p.L102S|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L102S|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L102S	p.L102S	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			4	1146	-			102					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.305T>C		.	.	.	.	.	.	.	.	.	.	A	21.4	4.149177	0.78001	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716;ENST00000430086	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.6	5.6	0.85130	.	0.240270	0.20794	U	0.085575	T	0.66781	0.2824	M	0.71036	2.16	0.80722	D	1	D;P;P	0.64830	0.994;0.649;0.801	D;P;P	0.71414	0.973;0.492;0.6	T	0.69939	-0.5009	10	0.87932	D	0	-5.2486	13.2853	0.60239	1.0:0.0:0.0:0.0	.	102;102;102	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	S	102;102;102;102;27	ENSP00000338728:L102S;ENSP00000263630:L102S;ENSP00000410608:L102S;ENSP00000404431:L102S;ENSP00000399237:L27S	ENSP00000263630:L102S	L	-	2	0	CCDC88A	55455492	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.636000	0.74299	2.115000	0.64714	0.533000	0.62120	TTG		0.308	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		67	125	0	0	0	1	0	67	125				
ZNF385B	151126	broad.mit.edu	37	2	180311336	180311336	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:180311336C>T	ENST00000410066.1	-	7	1435	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	ZNF385B_ENST00000336917.5_Missense_Mutation_p.E176K|ZNF385B_ENST00000409692.1_Missense_Mutation_p.E176K|ZNF385B_ENST00000409343.1_Missense_Mutation_p.E202K|ZNF385B_ENST00000466398.1_5'UTR	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	278	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCTTTTTCTTCTTCTGATTCA	0.463																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(832-834)Gaa>Aaa		zinc finger protein 385B							109.0	110.0	109.0					2																	180311336		2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180311336C>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.832G>A	2.37:g.180311336C>T	ENSP00000386845:p.Glu278Lys					ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.E176K|ZNF385B_ENST00000409343.1_Missense_Mutation_p.E202K|ZNF385B_ENST00000336917.5_Missense_Mutation_p.E176K	p.E278K	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		7	1435	-			278					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.832G>A	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	C	36	5.679864	0.96774	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.66716	0.883;0.946	T	0.56757	-0.7926	10	0.40728	T	0.16	-0.7981	19.8372	0.96661	0.0:1.0:0.0:0.0	.	278;202	Q569K4;Q569K4-2	Z385B_HUMAN;.	K	278;176;202;176;176	ENSP00000386845:E278K;ENSP00000338225:E176K;ENSP00000386379:E202K;ENSP00000386507:E176K;ENSP00000394038:E176K	ENSP00000338225:E176K	E	-	1	0	ZNF385B	180019581	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	GAA		0.463	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		46	60	0	0	0	1	0	46	60				
HSP90AB2P	391634	broad.mit.edu	37	4	13339234	13339234	+	RNA	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:13339234G>A	ENST00000602906.1	+	0	862							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						AACTTTATCCGTGGTGTGGTT	0.418																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														391634							g.chr4:13339234G>A	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13339234G>A														0	862	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.418	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			16	19	0	0	0	1	0	16	19				
SLC12A9	56996	broad.mit.edu	37	7	100463561	100463561	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:100463561G>A	ENST00000354161.3	+	14	2204	c.2079G>A	c.(2077-2079)atG>atA	p.M693I	TRIP6_ENST00000200457.4_5'Flank	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	693					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCTCAAGATGAACAAGAATG	0.692																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(2077-2079)atG>atA		solute carrier family 12, member 9							32.0	41.0	38.0					7																	100463561		2203	4294	6497	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100463561G>A	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.2079G>A	7.37:g.100463561G>A	ENSP00000275730:p.Met693Ile						p.M693I	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			14	2204	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		693					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.2079G>A	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902023	0.92035	.	.	ENSG00000146828	ENST00000354161;ENST00000539308	D	0.91843	-2.92	5.44	5.44	0.79542	.	0.254962	0.44483	D	0.000448	D	0.90559	0.7041	L	0.54965	1.715	0.80722	D	1	P	0.38617	0.64	B	0.39379	0.298	D	0.89867	0.4020	10	0.38643	T	0.18	.	16.7552	0.85497	0.0:0.0:1.0:0.0	.	693	Q9BXP2	S12A9_HUMAN	I	693;319	ENSP00000275730:M693I	ENSP00000275730:M693I	M	+	3	0	SLC12A9	100301497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.853000	0.99521	2.564000	0.86499	0.555000	0.69702	ATG		0.692	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		106	13	0	0	0	1	0	106	13				
PTGIS	5740	broad.mit.edu	37	20	48166709	48166709	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:48166709G>A	ENST00000244043.4	-	2	121	c.92C>T	c.(91-93)cCc>cTc	p.P31L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	31					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	CAGGTCCAGGGGAGGCTCACC	0.527																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(91-93)cCc>cTc		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						73.0	64.0	67.0					20																	48166709		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48166709G>A		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.92C>T	20.37:g.48166709G>A	ENSP00000244043:p.Pro31Leu					PTGIS_ENST00000478971.1_5'UTR	p.P31L	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	121	-			31					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.92C>T	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006685	0.54361	.	.	ENSG00000124212	ENST00000244043	T	0.09073	3.02	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.30031	-0.9992	10	0.87932	D	0	-27.7228	16.6427	0.85130	0.0:0.0:1.0:0.0	.	31	Q16647	PTGIS_HUMAN	L	31	ENSP00000244043:P31L	ENSP00000244043:P31L	P	-	2	0	PTGIS	47600116	1.000000	0.71417	0.853000	0.33588	0.012000	0.07955	8.556000	0.90697	2.199000	0.70637	0.462000	0.41574	CCC		0.527	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			43	54	0	0	0	1	0	43	54				
FREM2	341640	broad.mit.edu	37	13	39263204	39263204	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr13:39263204G>A	ENST00000280481.7	+	1	1939	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	575					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGCAGAGGGTGAAACAGTGCC	0.537																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1723-1725)Gaa>Aaa		FRAS1 related extracellular matrix protein 2							116.0	110.0	112.0					13																	39263204		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263204G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1723G>A	13.37:g.39263204G>A	ENSP00000280481:p.Glu575Lys						p.E575K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1939	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	575					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1723G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657337	0.29425	.	.	ENSG00000150893	ENST00000280481	T	0.76316	-1.01	5.4	5.4	0.78164	.	0.272597	0.41712	D	0.000824	T	0.74321	0.3701	L	0.58810	1.83	0.49582	D	0.999802	B	0.31174	0.311	B	0.32090	0.14	T	0.70781	-0.4779	10	0.24483	T	0.36	.	15.5235	0.75885	0.0:0.1384:0.8616:0.0	.	575	Q5SZK8	FREM2_HUMAN	K	575	ENSP00000280481:E575K	ENSP00000280481:E575K	E	+	1	0	FREM2	38161204	0.999000	0.42202	0.592000	0.28758	0.975000	0.68041	2.804000	0.47931	2.538000	0.85594	0.561000	0.74099	GAA		0.537	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		22	43	0	0	0	1	0	22	43				
SLC6A12	6539	broad.mit.edu	37	12	302467	302467	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:302467G>A	ENST00000428720.1	-	14	2249	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	SLC6A12_ENST00000397296.2_Silent_p.L502L|SLC6A12_ENST00000536824.1_Silent_p.L502L|SLC6A12_ENST00000359674.4_Silent_p.L502L|SLC6A12_ENST00000424061.2_Silent_p.L502L|RP11-283I3.1_ENST00000544067.1_RNA	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	502					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGGTCAGGAAGAGCCAGGAGA	0.592																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(1504-1506)ctC>ctT		solute carrier family 6 (neurotransmitter transporter), member 12							120.0	105.0	110.0					12																	302467		2203	4300	6503	SO:0001819	synonymous_variant	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:302467G>A	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1506C>T	12.37:g.302467G>A						SLC6A12_ENST00000536824.1_Silent_p.L502L|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000424061.2_Silent_p.L502L|SLC6A12_ENST00000397296.2_Silent_p.L502L|SLC6A12_ENST00000359674.4_Silent_p.L502L	p.L502L	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		14	2249	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		502					A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	c.1506C>T	CCDS8501.1																																																																																				0.592	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		31	11	0	0	0	1	0	31	11				
SKA2	348235	broad.mit.edu	37	17	57196839	57196839	+	Silent	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:57196839G>C	ENST00000330137.7	-	3	243	c.138C>G	c.(136-138)ctC>ctG	p.L46L	SKA2_ENST00000581068.1_Intron|SKA2_ENST00000583380.1_Silent_p.L46L|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000583927.1_Intron|AC099850.1_ENST00000451775.1_RNA|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000578105.1_Silent_p.L17L	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	46					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			lung(4)	4						ATTCCTTTAAGAGTGTAACTG	0.323																																						ENST00000330137.7																			0				lung(4)	4						c.(136-138)ctC>ctG		spindle and kinetochore associated complex subunit 2							119.0	112.0	114.0					17																	57196839		1808	4070	5878	SO:0001819	synonymous_variant	348235				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr17:57196839G>C	BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"""family with sequence similarity 33, member A"""	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.138C>G	17.37:g.57196839G>C						SKA2_ENST00000580541.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000583380.1_Silent_p.L46L|SKA2_ENST00000437036.2_Intron|SKA2_ENST00000578105.1_Silent_p.L17L|SKA2_ENST00000583927.1_Intron	p.L46L	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN			3	243	-			46					A6NIL3|B3KPL3|E9PCB8	Silent	SNP	ENST00000330137.7	37	c.138C>G	CCDS45747.1																																																																																				0.323	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1	NM_182620		4	143	0	0	0	1	0	4	143				
PHF6	84295	broad.mit.edu	37	X	133527593	133527593	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:133527593G>A	ENST00000332070.3	+	4	505	c.303G>A	c.(301-303)agG>agA	p.R101R	PHF6_ENST00000370800.4_Silent_p.R101R|PHF6_ENST00000394292.1_Silent_p.R101R|PHF6_ENST00000416404.2_Silent_p.R67R|PHF6_ENST00000370803.3_Silent_p.R101R|PHF6_ENST00000370799.1_Silent_p.R101R	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	101	Extended PHD1 domain (ePHD1).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					CATGTCACAGGACATACCACT	0.343			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	ENST00000332070.3				Rec	yes		X	Xq26.3	84295	"""F, N, Splice, Mis"""	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(301-303)agG>agA		PHD finger protein 6							174.0	148.0	157.0					X																	133527593		2203	4300	6503	SO:0001819	synonymous_variant	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133527593G>A	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.303G>A	X.37:g.133527593G>A						PHF6_ENST00000370799.1_Silent_p.R101R|PHF6_ENST00000370803.3_Silent_p.R101R|PHF6_ENST00000416404.2_Silent_p.R67R|PHF6_ENST00000370800.4_Silent_p.R101R|PHF6_ENST00000394292.1_Silent_p.R101R	p.R101R	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN			4	505	+	Acute lymphoblastic leukemia(192;0.000127)		101					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Silent	SNP	ENST00000332070.3	37	c.303G>A	CCDS14639.1																																																																																				0.343	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		86	6	0	0	0	1	0	86	6				
ZNF671	79891	broad.mit.edu	37	19	58232845	58232845	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:58232845G>A	ENST00000317398.6	-	4	704	c.609C>T	c.(607-609)ttC>ttT	p.F203F	ZNF671_ENST00000335820.3_Silent_p.F105F|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTCTGTACTGAACCAGAATT	0.493																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(607-609)ttC>ttT		zinc finger protein 671							152.0	143.0	146.0					19																	58232845		2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232845G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.609C>T	19.37:g.58232845G>A						AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.F105F	p.F203F	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	704	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	203					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.609C>T	CCDS12961.1																																																																																				0.493	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		61	61	0	0	0	1	0	61	61				
CLK2	1196	broad.mit.edu	37	1	155233062	155233062	+	Missense_Mutation	SNP	G	G	A	rs200444017		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:155233062G>A	ENST00000368361.4	-	13	1762	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000536801.1_Missense_Mutation_p.R483W|CLK2_ENST00000355560.4_Missense_Mutation_p.R481W|CLK2_ENST00000361168.5_Missense_Mutation_p.R482W|CLK2_ENST00000497188.1_5'UTR|SCAMP3_ENST00000355379.3_5'Flank|SCAMP3_ENST00000472397.1_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	483					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	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)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTCAGCCCGAAGGCGGGCG	0.572								Other conserved DNA damage response genes					G|||	1	0.000199681	0.0008	0.0	5008	,	,		20015	0.0		0.0	False		,,,				2504	0.0					ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1447-1449)Cgg>Tgg	Other conserved DNA damage response genes	CDC-like kinase 2							56.0	54.0	55.0					1																	155233062		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155233062G>A	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1447C>T	1.37:g.155233062G>A	ENSP00000357345:p.Arg483Trp					CLK2_ENST00000536801.1_Missense_Mutation_p.R483W|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.R481W|CLK2_ENST00000361168.5_Missense_Mutation_p.R482W	p.R483W			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		13	1762	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		483					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.1447C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	17.10	3.304171	0.60305	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.1	4.12	0.48240	Protein kinase-like domain (1);	0.319935	0.37715	N	0.001971	T	0.09730	0.0239	L	0.55990	1.75	0.33457	D	0.584399	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.06409	-1.0828	10	0.56958	D	0.05	.	7.8809	0.29621	0.0:0.1475:0.5775:0.2751	.	483;482	P49760;P49760-3	CLK2_HUMAN;.	W	482;483;481;255;483	ENSP00000354856:R482W;ENSP00000357345:R483W;ENSP00000347759:R481W;ENSP00000441023:R483W	ENSP00000347759:R481W	R	-	1	2	CLK2	153499686	0.997000	0.39634	1.000000	0.80357	0.920000	0.55202	1.953000	0.40352	2.811000	0.96726	0.555000	0.69702	CGG		0.572	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		26	36	0	0	0	1	0	26	36				
CEP72	55722	broad.mit.edu	37	5	635560	635560	+	Silent	SNP	G	G	A	rs375299272		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:635560G>A	ENST00000264935.5	+	6	855	c.765G>A	c.(763-765)acG>acA	p.T255T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	255					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GCCGTGAGACGAGGAGGAGCA	0.542																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(763-765)acG>acA		centrosomal protein 72kDa		G		0,4406		0,0,2203	55.0	51.0	52.0		765	2.7	0.0	5		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CEP72	NM_018140.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		255/648	635560	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:635560G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.765G>A	5.37:g.635560G>A						CEP72_ENST00000444221.1_3'UTR	p.T255T	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		6	855	+			255					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.765G>A	CCDS34126.1																																																																																				0.542	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		17	25	0	0	0	1	0	17	25				
ITGA8	8516	broad.mit.edu	37	10	15688893	15688893	+	Missense_Mutation	SNP	C	C	T	rs142735096		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:15688893C>T	ENST00000378076.3	-	12	1512	c.1159G>A	c.(1159-1161)Ggt>Agt	p.G387S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	387					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATAGCACTACCGAATCTCCCA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18424	0.0		0.0	False		,,,				2504	0.001					ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1159-1161)Ggt>Agt		integrin, alpha 8		C	SER/GLY	0,4406		0,0,2203	116.0	104.0	108.0		1159	5.3	0.7	10	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA8	NM_003638.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	387/1064	15688893	1,13005	2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15688893C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1159G>A	10.37:g.15688893C>T	ENSP00000367316:p.Gly387Ser						p.G387S	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			12	1512	-			387					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1159G>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408558	0.83340	0.0	1.16E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.35973	1.28	5.35	5.35	0.76521	.	0.096084	0.64402	D	0.000001	T	0.67961	0.2949	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.99	T	0.74717	-0.3571	10	0.72032	D	0.01	.	19.063	0.93100	0.0:1.0:0.0:0.0	.	372;387	F5H818;P53708	.;ITA8_HUMAN	S	387;372	ENSP00000367316:G387S	ENSP00000367316:G387S	G	-	1	0	ITGA8	15728899	1.000000	0.71417	0.709000	0.30452	0.292000	0.27327	7.818000	0.86416	2.491000	0.84063	0.563000	0.77884	GGT		0.478	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		24	52	0	0	0	1	0	24	52				
PCDHA1	56147	broad.mit.edu	37	5	140168205	140168205	+	Missense_Mutation	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:140168205C>A	ENST00000504120.2	+	1	2330	c.2330C>A	c.(2329-2331)tCt>tAt	p.S777Y	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S777Y	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	777	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGCCTATCTCCAAGTCTT	0.498																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(2329-2331)tCt>tAt									43.0	41.0	42.0					5																	140168205		2203	4300	6503	SO:0001583	missense	56147							g.chr5:140168205C>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2330C>A	5.37:g.140168205C>A	ENSP00000420840:p.Ser777Tyr					PCDHA1_ENST00000378133.3_Missense_Mutation_p.S777Y|PCDHA1_ENST00000394633.3_Intron	p.S777Y	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2330	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.2330C>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	13.32	2.201178	0.38905	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.12672	2.66;2.66	4.36	3.49	0.39957	.	0.190908	0.25169	U	0.032601	T	0.27278	0.0669	M	0.67953	2.075	0.09310	N	1	P;P	0.50710	0.938;0.809	P;B	0.52710	0.707;0.35	T	0.07424	-1.0773	10	0.87932	D	0	.	14.2816	0.66216	0.0:0.8499:0.1501:0.0	.	777;777	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	Y	777	ENSP00000420840:S777Y;ENSP00000367373:S777Y	ENSP00000367373:S777Y	S	+	2	0	PCDHA1	140148389	0.044000	0.20184	0.026000	0.17262	0.066000	0.16364	0.742000	0.26216	0.956000	0.37904	0.645000	0.84053	TCT		0.498	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		4	82	1	0	0.150653	1	0.150653	4	82				
AHNAK	79026	broad.mit.edu	37	11	62284339	62284339	+	Silent	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:62284339C>G	ENST00000378024.4	-	5	17824	c.17550G>C	c.(17548-17550)ggG>ggC	p.G5850G	AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5850					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACACCCCACTCCCCTGTAACT	0.532																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(17548-17550)ggG>ggC		AHNAK nucleoprotein							207.0	180.0	189.0					11																	62284339		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62284339C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17550G>C	11.37:g.62284339C>G						AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G5850G	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	17824	-		Melanoma(852;0.155)	5850					A1A586	Silent	SNP	ENST00000378024.4	37	c.17550G>C	CCDS31584.1																																																																																				0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		91	127	0	0	0	1	0	91	127				
C8orf34	116328	broad.mit.edu	37	8	69633616	69633616	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:69633616G>C	ENST00000539993.1	+	10	1639	c.1090G>C	c.(1090-1092)Gaa>Caa	p.E364Q	C8orf34_ENST00000337103.4_Missense_Mutation_p.E339Q|C8orf34_ENST00000325233.3_Missense_Mutation_p.E108Q|C8orf34_ENST00000518698.1_Missense_Mutation_p.E450Q			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	364										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGGGACTGAAGAAGCACTAAT	0.294																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(1015-1017)Gaa>Caa		chromosome 8 open reading frame 34							98.0	102.0	101.0					8																	69633616		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69633616G>C	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1090G>C	8.37:g.69633616G>C	ENSP00000438159:p.Glu364Gln					C8orf34_ENST00000325233.3_Missense_Mutation_p.E108Q|C8orf34_ENST00000539993.1_Missense_Mutation_p.E364Q|C8orf34_ENST00000518698.1_Missense_Mutation_p.E450Q	p.E339Q			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		9	2607	+			364					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1015G>C		.	.	.	.	.	.	.	.	.	.	G	13.98	2.399102	0.42512	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.48522	0.81;0.86;0.85;0.81	5.55	4.66	0.58398	.	0.536331	0.19463	N	0.113643	T	0.34861	0.0912	L	0.40543	1.245	0.26682	N	0.97152	P	0.40476	0.718	B	0.35971	0.215	T	0.25328	-1.0135	9	.	.	.	-12.1616	9.6867	0.40103	0.093:0.0:0.907:0.0	.	364	Q49A92	CH034_HUMAN	Q	450;364;339;108	ENSP00000427820:E450Q;ENSP00000438159:E364Q;ENSP00000337174:E339Q;ENSP00000319532:E108Q	.	E	+	1	0	C8orf34	69796170	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	2.642000	0.46596	2.784000	0.95788	0.585000	0.79938	GAA		0.294	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		20	39	0	0	0	1	0	20	39				
EPHA2	1969	broad.mit.edu	37	1	16464522	16464522	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:16464522C>T	ENST00000358432.5	-	5	1292	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	380	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACACTGGCCTCACACGGCCCG	0.657																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1138-1140)Gag>Aag		EPH receptor A2	Dasatinib(DB01254)						52.0	45.0	48.0					1																	16464522		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16464522C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1138G>A	1.37:g.16464522C>T	ENSP00000351209:p.Glu380Lys						p.E380K	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	5	1292	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	380			Fibronectin type-III 1.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.1138G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018624	0.54576	.	.	ENSG00000142627	ENST00000358432	T	0.62639	0.01	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000064	T	0.53158	0.1779	L	0.38838	1.175	0.51482	D	0.999925	B;P	0.40534	0.258;0.72	B;B	0.36666	0.222;0.23	T	0.61436	-0.7063	10	0.72032	D	0.01	.	16.1088	0.81244	0.0:1.0:0.0:0.0	.	380;380	B5A968;P29317	.;EPHA2_HUMAN	K	380	ENSP00000351209:E380K	ENSP00000351209:E380K	E	-	1	0	EPHA2	16337109	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	7.771000	0.85420	2.488000	0.83962	0.561000	0.74099	GAG		0.657	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		31	21	0	0	0	1	0	31	21				
HDAC5	10014	broad.mit.edu	37	17	42170772	42170772	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:42170772G>A	ENST00000393622.2	-	5	767	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	HDAC5_ENST00000586802.1_Nonsense_Mutation_p.Q146*|HDAC5_ENST00000336057.5_Nonsense_Mutation_p.Q146*|HDAC5_ENST00000225983.6_Nonsense_Mutation_p.Q147*	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	146					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		tgctcccgctgccgctgctgc	0.642																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(439-441)Cag>Tag		histone deacetylase 5							8.0	9.0	9.0					17																	42170772		2090	4129	6219	SO:0001587	stop_gained	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42170772G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.436C>T	17.37:g.42170772G>A	ENSP00000377244:p.Gln146*					HDAC5_ENST00000586802.1_Nonsense_Mutation_p.Q146*|HDAC5_ENST00000393622.2_Nonsense_Mutation_p.Q146*|HDAC5_ENST00000336057.5_Nonsense_Mutation_p.Q146*	p.Q147*			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	5	762	-		Breast(137;0.00637)|Prostate(33;0.0313)	146	R -> G (in Ref. 6; BX458255).				C9JFV9|O60340|O60528|Q96DY4	Nonsense_Mutation	SNP	ENST00000393622.2	37	c.439C>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	37	6.105113	0.97286	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	.	.	.	3.85	2.79	0.32731	.	0.566633	0.16288	N	0.221003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9259	8.5295	0.33326	0.0:0.0:0.5756:0.4244	.	.	.	.	X	147;146;146	.	ENSP00000225983:Q147X	Q	-	1	0	HDAC5	39526298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.438000	0.52871	1.991000	0.58162	0.555000	0.69702	CAG		0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		11	16	0	0	0	1	0	11	16				
SEC24B	10427	broad.mit.edu	37	4	110394259	110394259	+	Nonsense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:110394259C>G	ENST00000265175.5	+	3	1032	c.977C>G	c.(976-978)tCa>tGa	p.S326*	SEC24B_ENST00000399100.2_Nonsense_Mutation_p.S326*|SEC24B_ENST00000504968.2_Nonsense_Mutation_p.S357*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	326					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGATCCTCATCAACAAGAACA	0.438																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(976-978)tCa>tGa		SEC24 family member B							113.0	105.0	108.0					4																	110394259		1911	4132	6043	SO:0001587	stop_gained	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110394259C>G	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.977C>G	4.37:g.110394259C>G	ENSP00000265175:p.Ser326*					SEC24B_ENST00000399100.2_Nonsense_Mutation_p.S326*|SEC24B_ENST00000504968.2_Nonsense_Mutation_p.S357*	p.S326*	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	3	1032	+		Hepatocellular(203;0.217)	326					B7ZKM8|B7ZKN4|Q0VG08	Nonsense_Mutation	SNP	ENST00000265175.5	37	c.977C>G	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668531	0.67814	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	.	.	.	5.33	5.33	0.75918	.	0.910529	0.09104	N	0.847982	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-13.0244	15.7714	0.78173	0.0:1.0:0.0:0.0	.	.	.	.	X	357;326;326	.	ENSP00000265175:S326X	S	+	2	0	SEC24B	110613708	0.030000	0.19436	0.042000	0.18584	0.036000	0.12997	2.823000	0.48081	2.470000	0.83445	0.563000	0.77884	TCA		0.438	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			31	59	0	0	0	1	0	31	59				
SLC23A1	9963	broad.mit.edu	37	5	138715753	138715753	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:138715753C>T	ENST00000348729.3	-	7	706	c.660G>A	c.(658-660)ctG>ctA	p.L220L	SLC23A1_ENST00000503919.1_5'Flank|SLC23A1_ENST00000353963.3_Silent_p.L224L	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	220					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AGAGGATGATCAGGAGAATGG	0.592																																						ENST00000353963.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19						c.(670-672)ctG>ctA		solute carrier family 23 (ascorbic acid transporter), member 1	Vitamin C(DB00126)						81.0	70.0	74.0					5																	138715753		2203	4300	6503	SO:0001819	synonymous_variant	9963				brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	g.chr5:138715753C>T	AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.660G>A	5.37:g.138715753C>T						SLC23A1_ENST00000348729.3_Silent_p.L220L	p.L224L	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	710	-			220					O95191|Q8WWB6|Q9UGH4|Q9UI39	Silent	SNP	ENST00000348729.3	37	c.672G>A	CCDS4212.1																																																																																				0.592	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685		9	12	0	0	0	1	0	9	12				
HAS3	3038	broad.mit.edu	37	16	69143614	69143614	+	Missense_Mutation	SNP	C	C	T	rs146829742		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:69143614C>T	ENST00000306560.1	+	2	472	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	HAS3_ENST00000569188.1_Missense_Mutation_p.R106C|HAS3_ENST00000219322.3_Missense_Mutation_p.R106C	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	106					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CAAGTGCCTGCGCTCGGCCCA	0.657																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(316-318)Cgc>Tgc		hyaluronan synthase 3		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	56.0	47.0	50.0		316,316,316	5.6	1.0	16	dbSNP_134	50	0,8600		0,0,4300	no	missense,missense,missense	HAS3	NM_001199280.1,NM_005329.2,NM_138612.2	180,180,180	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	106/554,106/554,106/282	69143614	1,12995	2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143614C>T	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.316C>T	16.37:g.69143614C>T	ENSP00000304440:p.Arg106Cys					HAS3_ENST00000569188.1_Missense_Mutation_p.R106C|HAS3_ENST00000219322.3_Missense_Mutation_p.R106C	p.R106C	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	472	+		Ovarian(137;0.101)	106					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.316C>T	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233990	0.79688	2.27E-4	0.0	ENSG00000103044	ENST00000219322;ENST00000306560	D;T	0.85773	-2.03;0.18	5.6	5.6	0.85130	.	0.047440	0.85682	D	0.000000	D	0.90769	0.7102	M	0.62723	1.935	0.58432	D	0.999994	D;D	0.89917	0.991;1.0	P;P	0.62014	0.759;0.897	D	0.90966	0.4816	10	0.62326	D	0.03	-23.7664	19.1973	0.93695	0.0:1.0:0.0:0.0	.	106;106	O00219;O00219-2	HAS3_HUMAN;.	C	106	ENSP00000219322:R106C;ENSP00000304440:R106C	ENSP00000219322:R106C	R	+	1	0	HAS3	67701115	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.845000	0.55880	2.653000	0.90120	0.561000	0.74099	CGC		0.657	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		33	36	0	0	0	1	0	33	36				
KPNA1	3836	broad.mit.edu	37	3	122186243	122186243	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:122186243C>T	ENST00000344337.6	-	3	339	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K		NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	55	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TCTGTTTCTTCTTCTGCTGTA	0.363																																					Melanoma(12;340 801 11196 19797)	ENST00000344337.6																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21						c.(163-165)Gaa>Aaa		karyopherin alpha 1 (importin alpha 5)							163.0	150.0	154.0					3																	122186243		2202	4300	6502	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122186243C>T	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.163G>A	3.37:g.122186243C>T	ENSP00000343701:p.Glu55Lys						p.E55K	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	3	339	-			55			IBB.		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.163G>A	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151777	0.78001	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.56	4.56	0.56223	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.053005	0.85682	D	0.000000	T	0.50463	0.1617	M	0.72894	2.215	0.58432	D	0.999992	B	0.26547	0.152	B	0.33121	0.158	T	0.49072	-0.8977	10	0.28530	T	0.3	-14.9705	14.8756	0.70491	0.0:1.0:0.0:0.0	.	55	P52294	IMA1_HUMAN	K	55	ENSP00000343701:E55K;ENSP00000419890:E55K;ENSP00000417166:E55K;ENSP00000417319:E55K;ENSP00000419257:E55K	ENSP00000343701:E55K	E	-	1	0	KPNA1	123668933	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.911000	0.69939	2.356000	0.79943	0.467000	0.42956	GAA		0.363	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		28	88	0	0	0	1	0	28	88				
USP42	84132	broad.mit.edu	37	7	6194321	6194321	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:6194321C>T	ENST00000306177.5	+	15	3294	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1046	Arg-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGGCTGGGGCCGGGAGAAGTT	0.677																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(3136-3138)Cgg>Tgg		ubiquitin specific peptidase 42							9.0	12.0	11.0					7																	6194321		2060	4179	6239	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6194321C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3136C>T	7.37:g.6194321C>T	ENSP00000301962:p.Arg1046Trp						p.R1046W	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	15	3294	+		Ovarian(82;0.0423)	1046			Arg-rich.		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.3136C>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923074	0.73213	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.62639	0.01;0.01	5.77	1.63	0.23807	.	0.306952	0.27455	N	0.019292	T	0.45074	0.1324	L	0.34521	1.04	0.24031	N	0.996112	B;B;B	0.32939	0.271;0.391;0.271	B;B;B	0.26202	0.03;0.067;0.03	T	0.39683	-0.9602	10	0.87932	D	0	.	8.8155	0.34993	0.496:0.4312:0.0:0.0727	.	942;1046;1046	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	W	1046;892	ENSP00000301962:R1046W;ENSP00000408217:R892W	ENSP00000301962:R1046W	R	+	1	2	USP42	6160846	0.972000	0.33761	0.857000	0.33713	0.635000	0.38103	0.981000	0.29526	0.325000	0.23359	0.655000	0.94253	CGG		0.677	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		9	7	0	0	0	1	0	9	7				
TENM3	55714	broad.mit.edu	37	4	183714086	183714086	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:183714086C>G	ENST00000511685.1	+	26	6384	c.6261C>G	c.(6259-6261)atC>atG	p.I2087M	TENM3_ENST00000406950.2_Missense_Mutation_p.I2087M			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2087					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATGGCCGTATCAAGGAGATTC	0.378																																						ENST00000511685.1																			0											c.(6259-6261)atC>atG		teneurin transmembrane protein 3							44.0	42.0	43.0					4																	183714086		1872	4107	5979	SO:0001583	missense	55714							g.chr4:183714086C>G	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6261C>G	4.37:g.183714086C>G	ENSP00000424226:p.Ile2087Met					TENM3_ENST00000406950.2_Missense_Mutation_p.I2087M	p.I2087M							26	6384	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6261C>G	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886465	0.33348	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86627	-2.15;-2.15	4.89	4.05	0.47172	.	.	.	.	.	D	0.82747	0.5104	L	0.42245	1.32	0.54753	D	0.999984	P	0.50528	0.936	P	0.45343	0.477	T	0.80353	-0.1418	9	0.37606	T	0.19	.	9.2142	0.37337	0.1447:0.7793:0.0:0.0761	.	2087	Q9P273	TEN3_HUMAN	M	2087	ENSP00000424226:I2087M;ENSP00000385276:I2087M	ENSP00000385276:I2087M	I	+	3	3	ODZ3	183951080	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.853000	0.55941	1.283000	0.44513	0.563000	0.77884	ATC		0.378	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			22	26	0	0	0	1	0	22	26				
IGLV5-52	28779	broad.mit.edu	37	22	22673296	22673296	+	RNA	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr22:22673296C>G	ENST00000390289.2	+	0	94				BMS1P20_ENST00000426066.1_RNA					immunoglobulin lambda variable 5-52																		TCTTCCCATTCTGCATCTTCT	0.517																																						ENST00000390289.2																			0																				193.0	195.0	194.0					22																	22673296		2106	4227	6333			28779							g.chr22:22673296C>G	Z73669		22q11.2	2012-02-08			ENSG00000211643	ENSG00000211643		"""Immunoglobulins / IGL locus"""	5926	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151049		22.37:g.22673296C>G						LL22NC03-80A10.6_ENST00000426066.1_RNA								0	94	+									RNA	SNP	ENST00000390289.2	37																																																																																						0.517	IGLV5-52-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321109.1	NG_000002		95	176	0	0	0	1	0	95	176				
ZNF747	65988	broad.mit.edu	37	16	30544358	30544358	+	3'UTR	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:30544358G>A	ENST00000252799.3	-	0	1265				ZNF747_ENST00000569360.1_Missense_Mutation_p.A152V|ZNF747_ENST00000395094.3_3'UTR|AC002310.12_ENST00000569752.1_RNA|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000568028.1_Missense_Mutation_p.A152V|ZNF747_ENST00000535210.1_Missense_Mutation_p.A152V	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						CTCCAACCCGGCAAAGGGGGC	0.682																																						ENST00000535210.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(454-456)gCc>gTc		zinc finger protein 747							35.0	40.0	39.0					16																	30544358		2197	4300	6497	SO:0001624	3_prime_UTR_variant	65988				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544358G>A	BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.*22C>T	16.37:g.30544358G>A						ZNF747_ENST00000568028.1_Missense_Mutation_p.A152V|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000569360.1_Missense_Mutation_p.A152V|ZNF747_ENST00000395094.3_3'UTR	p.A152V			Q9BV97	ZN747_HUMAN			3	627	-			40					A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.455C>T	CCDS10682.1	.	.	.	.	.	.	.	.	.	.	G	7.985	0.751947	0.15778	.	.	ENSG00000169955	ENST00000535210	T	0.04970	3.52	2.73	1.74	0.24563	.	.	.	.	.	T	0.06917	0.0176	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41179	-0.9523	6	0.28530	T	0.3	.	9.4028	0.38442	0.0:0.2209:0.7791:0.0	.	.	.	.	V	152	ENSP00000441702:A152V	ENSP00000441702:A152V	A	-	2	0	ZNF747	30451859	0.030000	0.19436	0.001000	0.08648	0.004000	0.04260	0.757000	0.26433	0.480000	0.27534	-0.802000	0.03209	GCC		0.682	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2	NM_023931		4	69	0	0	0	1	0	4	69				
ADIPOQ	9370	broad.mit.edu	37	3	186572383	186572383	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:186572383G>A	ENST00000412955.2	+	3	766	c.625G>A	c.(625-627)Gac>Aac	p.D209N	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.D209N|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.D209N			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	209	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGAGGTGGGCGACCAAGTCTG	0.507																																						ENST00000412955.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16						c.(625-627)Gac>Aac		adiponectin, C1Q and collagen domain containing							75.0	75.0	75.0					3																	186572383		2203	4300	6503	SO:0001583	missense	9370				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	g.chr3:186572383G>A	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.625G>A	3.37:g.186572383G>A	ENSP00000405611:p.Asp209Asn					ADIPOQ_ENST00000320741.2_Missense_Mutation_p.D209N|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.D209N|ADIPOQ-AS1_ENST00000422718.1_RNA	p.D209N			Q15848	ADIPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)	3	766	+	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		209			C1q.		Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	c.625G>A	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862893	0.91511	.	.	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	D;D;D	0.85411	-1.98;-1.98;-1.98	5.31	5.31	0.75309	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.060344	0.64402	D	0.000007	D	0.94079	0.8102	M	0.92970	3.365	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.95067	0.8201	10	0.72032	D	0.01	.	16.8509	0.85993	0.0:0.0:1.0:0.0	.	209	Q15848	ADIPO_HUMAN	N	209	ENSP00000405611:D209N;ENSP00000320709:D209N;ENSP00000389814:D209N	ENSP00000320709:D209N	D	+	1	0	ADIPOQ	188055077	1.000000	0.71417	0.904000	0.35570	0.995000	0.86356	8.062000	0.89475	2.660000	0.90430	0.655000	0.94253	GAC		0.507	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		93	99	0	0	0	1	0	93	99				
CARD6	84674	broad.mit.edu	37	5	40852293	40852293	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:40852293A>G	ENST00000254691.5	+	3	1058	c.859A>G	c.(859-861)Aaa>Gaa	p.K287E	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	287					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAAGGTGTTTAAAGATGTCCT	0.378																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(859-861)Aaa>Gaa		caspase recruitment domain family, member 6							73.0	71.0	72.0					5																	40852293		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852293A>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.859A>G	5.37:g.40852293A>G	ENSP00000254691:p.Lys287Glu					CARD6_ENST00000381677.3_Intron	p.K287E	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1058	+			287					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.859A>G	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	7.658	0.684248	0.14907	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	T	0.11821	2.74	5.21	1.38	0.22167	.	0.544550	0.18045	N	0.153476	T	0.08714	0.0216	L	0.41236	1.265	0.58432	D	0.999995	B	0.29909	0.261	B	0.22880	0.042	T	0.30446	-0.9978	10	0.18710	T	0.47	-5.1771	6.3338	0.21285	0.599:0.3171:0.0838:0.0	.	287	Q9BX69	CARD6_HUMAN	E	287	ENSP00000254691:K287E	ENSP00000254691:K287E	K	+	1	0	CARD6	40888050	0.000000	0.05858	0.898000	0.35279	0.051000	0.14879	0.034000	0.13776	0.085000	0.17107	0.533000	0.62120	AAA		0.378	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			25	39	0	0	0	1	0	25	39				
OLFM3	118427	broad.mit.edu	37	1	102302509	102302509	+	Missense_Mutation	SNP	T	T	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:102302509T>C	ENST00000338858.5	-	2	201	c.202A>G	c.(202-204)Aca>Gca	p.T68A	OLFM3_ENST00000370103.4_Missense_Mutation_p.T48A|OLFM3_ENST00000359814.3_Missense_Mutation_p.T68A|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	68					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GCAACAACTGTGCAAATGCAC	0.498																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(142-144)Aca>Gca		olfactomedin 3							109.0	98.0	102.0					1																	102302509		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102302509T>C	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.202A>G	1.37:g.102302509T>C	ENSP00000345192:p.Thr68Ala					OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.T68A|OLFM3_ENST00000359814.3_Missense_Mutation_p.T68A	p.T48A	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	2	355	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	68					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.142A>G		.	.	.	.	.	.	.	.	.	.	T	26.3	4.722598	0.89298	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000359814	D;D;T	0.88124	-2.34;-2.34;0.68	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.91720	0.7382	M	0.71036	2.16	0.80722	D	1	D;D	0.63046	0.99;0.992	D;D	0.74348	0.92;0.983	D	0.92803	0.6258	10	0.87932	D	0	.	16.3322	0.83039	0.0:0.0:0.0:1.0	.	48;68	Q5T3V6;Q96PB7	.;NOE3_HUMAN	A	48;68;68	ENSP00000359121:T48A;ENSP00000345192:T68A;ENSP00000352867:T68A	ENSP00000345192:T68A	T	-	1	0	OLFM3	102075097	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.015000	0.88690	2.251000	0.74343	0.528000	0.53228	ACA		0.498	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			42	51	0	0	0	1	0	42	51				
SPATA1	100505741	broad.mit.edu	37	1	84982061	84982061	+	RNA	SNP	C	C	T	rs375737896	byFrequency	TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:84982061C>T	ENST00000370638.2	+	0	284							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		CAATCCAAGTCGACCTTCCTC	0.274																																						ENST00000370638.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10								spermatogenesis associated 1							21.0	21.0	21.0					1																	84982061		2189	4258	6447			100505741							g.chr1:84982061C>T	AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84982061C>T													Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)	0	284	+								A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	SNP	ENST00000370638.2	37																																																																																						0.274	SPATA1-007	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000314701.1	NM_022354		6	5	0	0	0	1	0	6	5				
LRIG2	9860	broad.mit.edu	37	1	113638916	113638916	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:113638916G>A	ENST00000361127.5	+	8	1218	c.1020G>A	c.(1018-1020)ttG>ttA	p.L340L		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	340					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGAGAGATTGAATTTAGGAG	0.398																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(1018-1020)ttG>ttA		leucine-rich repeats and immunoglobulin-like domains 2							198.0	196.0	197.0					1																	113638916		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113638916G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1020G>A	1.37:g.113638916G>A							p.L340L	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	8	1218	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	340					Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.1020G>A	CCDS30808.1																																																																																				0.398	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		89	118	0	0	0	1	0	89	118				
VASN	114990	broad.mit.edu	37	16	4431562	4431562	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:4431562G>A	ENST00000304735.3	+	2	839	c.684G>A	c.(682-684)ctG>ctA	p.L228L	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000537233.2_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	228					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						ACAACCAGCTGGAGCGAGTGC	0.711																																						ENST00000304735.3																			0				breast(1)|lung(3)|prostate(1)|skin(1)	6						c.(682-684)ctG>ctA		vasorin							11.0	10.0	10.0					16																	4431562		2153	4237	6390	SO:0001819	synonymous_variant	114990					extracellular region|integral to membrane		g.chr16:4431562G>A	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.684G>A	16.37:g.4431562G>A						CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000574025.1_Intron	p.L228L	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN			2	839	+			228					Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	c.684G>A	CCDS10514.1																																																																																				0.711	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		5	10	0	0	0	1	0	5	10				
PDE8A	5151	broad.mit.edu	37	15	85664082	85664082	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:85664082G>T	ENST00000310298.4	+	19	2041	c.1789G>T	c.(1789-1791)Gat>Tat	p.D597Y	PDE8A_ENST00000557957.1_Missense_Mutation_p.D525Y|PDE8A_ENST00000339708.5_Missense_Mutation_p.D551Y|PDE8A_ENST00000394553.1_Missense_Mutation_p.D597Y			O60658	PDE8A_HUMAN	phosphodiesterase 8A	597	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CACCATTCATGATGTGGATCA	0.483																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1789-1791)Gat>Tat		phosphodiesterase 8A							150.0	125.0	133.0					15																	85664082		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85664082G>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1789G>T	15.37:g.85664082G>T	ENSP00000311453:p.Asp597Tyr					PDE8A_ENST00000557957.1_Missense_Mutation_p.D525Y|PDE8A_ENST00000339708.5_Missense_Mutation_p.D551Y|PDE8A_ENST00000394553.1_Missense_Mutation_p.D597Y	p.D597Y			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		19	2041	+	Colorectal(223;0.227)		597			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.1789G>T	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030998	0.54790	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	D;D;D	0.88975	-2.45;-2.45;-2.45	5.44	4.54	0.55810	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.96510	0.8861	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97258	0.9902	10	0.87932	D	0	.	12.2182	0.54418	0.0819:0.0:0.9181:0.0	.	551;597	O60658-2;O60658	.;PDE8A_HUMAN	Y	597;597;551	ENSP00000311453:D597Y;ENSP00000378056:D597Y;ENSP00000340679:D551Y	ENSP00000311453:D597Y	D	+	1	0	PDE8A	83465086	1.000000	0.71417	0.096000	0.21009	0.418000	0.31294	7.474000	0.81024	1.535000	0.49220	-0.137000	0.14449	GAT		0.483	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		10	193	1	0	0.000978159	1	0.000988348	10	193				
TENM2	57451	broad.mit.edu	37	5	167689329	167689329	+	Silent	SNP	C	C	T	rs372074193		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:167689329C>T	ENST00000518659.1	+	29	7878	c.7839C>T	c.(7837-7839)atC>atT	p.I2613I	TENM2_ENST00000519204.1_Silent_p.I2492I|TENM2_ENST00000520394.1_Silent_p.I2374I|TENM2_ENST00000545108.1_Silent_p.I2612I|TENM2_ENST00000403607.2_Silent_p.I2437I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2613					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACTACAGCATCGAGGGCAAGG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20533	0.001		0.0	False		,,,				2504	0.0					ENST00000519204.1																			0											c.(7474-7476)atC>atT		teneurin transmembrane protein 2							42.0	47.0	45.0					5																	167689329		2153	4255	6408	SO:0001819	synonymous_variant	57451							g.chr5:167689329C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7839C>T	5.37:g.167689329C>T						TENM2_ENST00000545108.1_Silent_p.I2612I|TENM2_ENST00000520394.1_Silent_p.I2374I|TENM2_ENST00000518659.1_Silent_p.I2613I|TENM2_ENST00000403607.2_Silent_p.I2437I	p.I2492I							28	7594	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.7476C>T																																																																																					0.597	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		9	11	0	0	0	1	0	9	11				
DDN	23109	broad.mit.edu	37	12	49392030	49392030	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:49392030C>G	ENST00000421952.2	-	2	650	c.629G>C	c.(628-630)aGa>aCa	p.R210T	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	210	Interaction with MAGI2.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GGCAGAACCTCTCAGCAGCAG	0.726																																						ENST00000421952.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						c.(628-630)aGa>aCa		dendrin							11.0	14.0	13.0					12																	49392030		2055	4081	6136	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392030C>G	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.629G>C	12.37:g.49392030C>G	ENSP00000390590:p.Arg210Thr						p.R210T	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN			2	650	-			210			Interaction with MAGI2.			Missense_Mutation	SNP	ENST00000421952.2	37	c.629G>C	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275221	0.59649	.	.	ENSG00000181418	ENST00000421952	T	0.59502	0.26	3.56	3.56	0.40772	.	0.000000	0.46145	D	0.000303	T	0.61022	0.2314	L	0.27053	0.805	0.37252	D	0.906595	D	0.76494	0.999	D	0.78314	0.991	T	0.66448	-0.5921	10	0.54805	T	0.06	-9.5721	10.9767	0.47469	0.0:1.0:0.0:0.0	.	210	O94850	DEND_HUMAN	T	210	ENSP00000390590:R210T	ENSP00000390590:R210T	R	-	2	0	DDN	47678297	0.029000	0.19370	0.994000	0.49952	0.799000	0.45148	1.278000	0.33179	2.302000	0.77476	0.561000	0.74099	AGA		0.726	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			19	22	0	0	0	1	0	19	22				
DMTN	2039	broad.mit.edu	37	8	21925182	21925182	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:21925182C>T	ENST00000523266.1	+	4	700	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	DMTN_ENST00000519907.1_Missense_Mutation_p.R80C|DMTN_ENST00000415253.1_Missense_Mutation_p.R80C|DMTN_ENST00000265800.5_Missense_Mutation_p.R80C|DMTN_ENST00000358242.3_Missense_Mutation_p.R80C|DMTN_ENST00000432128.1_Missense_Mutation_p.R80C|DMTN_ENST00000523782.2_Missense_Mutation_p.R55C|DMTN_ENST00000381470.3_Missense_Mutation_p.R80C|DMTN_ENST00000517600.1_Missense_Mutation_p.R55C|DMTN_ENST00000443491.2_Missense_Mutation_p.R55C	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	80					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										GGAGCTGCCTCGCAGCCGCGA	0.652																																						ENST00000358242.3																			0											c.(238-240)Cgc>Tgc		dematin actin binding protein							67.0	63.0	64.0					8																	21925182		2203	4300	6503	SO:0001583	missense	2039							g.chr8:21925182C>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.238C>T	8.37:g.21925182C>T	ENSP00000427866:p.Arg80Cys					DMTN_ENST00000443491.2_Missense_Mutation_p.R55C|DMTN_ENST00000415253.1_Missense_Mutation_p.R80C|DMTN_ENST00000523266.1_Missense_Mutation_p.R80C|DMTN_ENST00000265800.5_Missense_Mutation_p.R80C|DMTN_ENST00000519907.1_Missense_Mutation_p.R80C|DMTN_ENST00000381470.3_Missense_Mutation_p.R80C|DMTN_ENST00000523782.2_Missense_Mutation_p.R55C|DMTN_ENST00000432128.1_Missense_Mutation_p.R80C|DMTN_ENST00000517600.1_Missense_Mutation_p.R55C	p.R80C							4	731	+								A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	ENST00000523266.1	37	c.238C>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003329	0.74932	.	.	ENSG00000158856	ENST00000522148;ENST00000523300;ENST00000519850;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	1.01;1.49;1.01;1.01;1.01;1.01;0.85;1.49;1.49;1.49;1.01;1.49;1.01;1.01;1.01;1.01	5.41	0.144	0.14824	.	0.216229	0.31685	N	0.007221	T	0.61248	0.2332	L	0.54323	1.7	0.48087	D	0.999585	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.999;0.997	D;D;P;P;P;P	0.79784	0.993;0.993;0.72;0.828;0.72;0.799	T	0.64360	-0.6426	10	0.72032	D	0.01	.	15.195	0.73081	0.2469:0.7531:0.0:0.0	.	19;55;80;55;55;80	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	C	55;55;80;80;80;55;55;55;55;55;80;80;19;80;80;80;80;80	ENSP00000428063:R55C;ENSP00000429116:R55C;ENSP00000430600:R80C;ENSP00000370879:R80C;ENSP00000416111:R80C;ENSP00000397904:R55C;ENSP00000430618:R55C;ENSP00000428733:R55C;ENSP00000430382:R55C;ENSP00000428415:R80C;ENSP00000265800:R80C;ENSP00000429948:R80C;ENSP00000350977:R80C;ENSP00000401291:R80C;ENSP00000427866:R80C;ENSP00000429377:R80C	ENSP00000265800:R80C	R	+	1	0	EPB49	21981128	0.059000	0.20769	0.975000	0.42487	0.887000	0.51463	0.182000	0.16900	0.024000	0.15214	-0.397000	0.06425	CGC		0.652	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1	NM_001978		24	32	0	0	0	1	0	24	32				
CATSPER4	378807	broad.mit.edu	37	1	26527508	26527508	+	Missense_Mutation	SNP	A	A	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:26527508A>T	ENST00000456354.2	+	8	1242	c.1175A>T	c.(1174-1176)aAg>aTg	p.K392M		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	392					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCAGTACAAGGAGATCCGA	0.562																																						ENST00000456354.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(1174-1176)aAg>aTg		cation channel, sperm associated 4							83.0	82.0	82.0					1																	26527508		2203	4300	6503	SO:0001583	missense	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26527508A>T	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1175A>T	1.37:g.26527508A>T	ENSP00000390423:p.Lys392Met						p.K392M	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	8	1242	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	392					A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	c.1175A>T	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.319304	0.60524	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.98105	-4.72;-4.7	4.84	3.71	0.42584	.	0.268189	0.26207	N	0.025701	D	0.97430	0.9159	M	0.61703	1.905	0.33224	D	0.555038	D;D	0.71674	0.998;0.998	P;P	0.61592	0.87;0.891	D	0.97859	1.0279	10	0.72032	D	0.01	-32.2929	6.4098	0.21684	0.891:0.0:0.109:0.0	.	392;376	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	M	392	ENSP00000341006:K392M;ENSP00000390423:K392M	ENSP00000341006:K392M	K	+	2	0	CATSPER4	26400095	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	3.304000	0.51866	1.826000	0.53198	0.260000	0.18958	AAG		0.562	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		4	89	0	0	0	1	0	4	89				
EFR3A	23167	broad.mit.edu	37	8	133015481	133015481	+	Splice_Site	SNP	A	A	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:133015481A>T	ENST00000254624.5	+	22	2535		c.e22-1		EFR3A_ENST00000521940.1_Splice_Site|EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)							extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TCTTTTTTGCAGGCAAATTTG	0.294																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.e22-1		EFR3 homolog A (S. cerevisiae)							73.0	70.0	71.0					8																	133015481		2203	4300	6503	SO:0001630	splice_region_variant	23167					plasma membrane	binding	g.chr8:133015481A>T	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.2311-1A>T	8.37:g.133015481A>T						EFR3A_ENST00000519656.1_Splice_Site|EFR3A_ENST00000334503.4_Splice_Site|EFR3A_ENST00000521940.1_Splice_Site		NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		22	2535	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)							A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Splice_Site	SNP	ENST00000254624.5	37		CCDS34942.2	.	.	.	.	.	.	.	.	.	.	A	17.98	3.520162	0.64747	.	.	ENSG00000132294	ENST00000254624;ENST00000407309;ENST00000377917;ENST00000334503;ENST00000519656	.	.	.	5.24	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2177	0.48835	0.8632:0.0:0.0:0.1368	.	.	.	.	.	-1	.	.	.	+	.	.	EFR3A	133084663	1.000000	0.71417	0.980000	0.43619	0.975000	0.68041	8.216000	0.89764	2.107000	0.64212	0.477000	0.44152	.		0.294	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	Intron	4	104	0	0	0	1	0	4	104				
MATN1	4146	broad.mit.edu	37	1	31194536	31194536	+	Missense_Mutation	SNP	G	G	A	rs145452251		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:31194536G>A	ENST00000373765.4	-	2	192	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	MATN1_ENST00000477320.1_5'Flank|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	53	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACAGGCCGAACGCTGCGA	0.607																																						ENST00000373765.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(157-159)Cgg>Tgg		matrilin 1, cartilage matrix protein		G	TRP/ARG	0,4406		0,0,2203	63.0	68.0	66.0		157	1.5	1.0	1	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	missense	MATN1	NM_002379.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	53/497	31194536	2,13004	2203	4300	6503	SO:0001583	missense	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31194536G>A	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.157C>T	1.37:g.31194536G>A	ENSP00000362870:p.Arg53Trp					MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA	p.R53W	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	2	192	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	53			VWFA 1.		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	c.157C>T	CCDS336.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151367	0.78001	0.0	2.33E-4	ENSG00000162510	ENST00000373765	T	0.78364	-1.17	4.62	1.47	0.22746	von Willebrand factor, type A (3);	.	.	.	.	D	0.88908	0.6565	M	0.91561	3.22	0.58432	D	0.999998	D	0.76494	0.999	D	0.71414	0.973	D	0.89281	0.3612	9	0.62326	D	0.03	-22.622	13.4446	0.61134	0.0:0.0:0.6054:0.3946	.	53	P21941	MATN1_HUMAN	W	53	ENSP00000362870:R53W	ENSP00000362870:R53W	R	-	1	2	MATN1	30967123	1.000000	0.71417	0.992000	0.48379	0.831000	0.47069	3.791000	0.55469	0.072000	0.16694	0.561000	0.74099	CGG		0.607	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		70	68	0	0	0	1	0	70	68				
SUSD1	64420	broad.mit.edu	37	9	114886635	114886635	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:114886635C>T	ENST00000374270.3	-	6	960	c.788G>A	c.(787-789)cGc>cAc	p.R263H	SUSD1_ENST00000374264.2_Missense_Mutation_p.R263H|SUSD1_ENST00000374263.3_Missense_Mutation_p.R263H|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	263	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACAGACATAGCGAGCCACACC	0.522																																						ENST00000374270.3																		SUSD1/ROD1(2)	0				central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(787-789)cGc>cAc		sushi domain containing 1							102.0	99.0	100.0					9																	114886635		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114886635C>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.788G>A	9.37:g.114886635C>T	ENSP00000363388:p.Arg263His					SUSD1_ENST00000374264.2_Missense_Mutation_p.R263H|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Missense_Mutation_p.R263H	p.R263H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN			6	960	-			263			Sushi 2.		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.788G>A	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.226|4.226	0.040898|0.040898	0.08196|0.08196	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000374270;ENST00000374263;ENST00000374264	.|T;T;T	.|0.65916	.|-0.18;-0.18;-0.18	5.87|5.87	3.35|3.35	0.38373|0.38373	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.277119	.|0.25968	.|N	.|0.027151	T|T	0.27098|0.27098	0.0664|0.0664	N|N	0.01464|0.01464	-0.85|-0.85	0.21915|0.21915	N|N	0.999473|0.999473	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.18116|0.18116	-1.0347|-1.0347	5|10	.|0.14252	.|T	.|0.57	-4.9138|-4.9138	5.026|5.026	0.14385|0.14385	0.0:0.1075:0.1768:0.7157|0.0:0.1075:0.1768:0.7157	.|.	.|263;263;263	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	T|H	77|263	.|ENSP00000363388:R263H;ENSP00000363381:R263H;ENSP00000363382:R263H	.|ENSP00000363381:R263H	A|R	-|-	1|2	0|0	SUSD1|SUSD1	113926456|113926456	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.822000|0.822000	0.46500|0.46500	2.332000|2.332000	0.43903|0.43903	0.385000|0.385000	0.24970|0.24970	-0.345000|-0.345000	0.07892|0.07892	GCT|CGC		0.522	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		5	154	0	0	0	1	0	5	154				
NRAP	4892	broad.mit.edu	37	10	115389442	115389442	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:115389442C>T	ENST00000359988.3	-	19	2189	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	NRAP_ENST00000369360.3_Missense_Mutation_p.D622N|NRAP_ENST00000369358.4_Missense_Mutation_p.D657N|NRAP_ENST00000360478.3_Missense_Mutation_p.D614N	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TAGTCCAGGTCACTGGCGAGA	0.493																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1969-1971)Gac>Aac		nebulin-related anchoring protein							128.0	118.0	121.0					10																	115389442		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115389442C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1945G>A	10.37:g.115389442C>T	ENSP00000353078:p.Asp649Asn					NRAP_ENST00000369360.3_Missense_Mutation_p.D622N|NRAP_ENST00000359988.3_Missense_Mutation_p.D649N|NRAP_ENST00000360478.3_Missense_Mutation_p.D614N	p.D657N			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	19	2213	-		Colorectal(252;0.0233)|Breast(234;0.188)	649						Missense_Mutation	SNP	ENST00000359988.3	37	c.1969G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624370	0.87560	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.19	4.29	0.51040	.	0.045227	0.85682	N	0.000000	T	0.59183	0.2175	L	0.58810	1.83	0.46725	D	0.999175	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.98;0.991;0.985	T	0.59958	-0.7356	10	0.46703	T	0.11	.	13.9396	0.64046	0.0:0.9265:0.0:0.0735	.	649;614;649	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	N	657;622;649;614	ENSP00000358365:D657N;ENSP00000358367:D622N;ENSP00000353078:D649N;ENSP00000353666:D614N	ENSP00000353078:D649N	D	-	1	0	NRAP	115379432	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.945000	0.63568	1.321000	0.45227	0.561000	0.74099	GAC		0.493	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		41	66	0	0	0	1	0	41	66				
HSPBP1	23640	broad.mit.edu	37	19	55776691	55776691	+	Silent	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:55776691G>C	ENST00000255631.5	-	8	1270	c.960C>G	c.(958-960)ctC>ctG	p.L320L	HSPBP1_ENST00000376343.3_Silent_p.L218L|HSPBP1_ENST00000587922.1_Silent_p.L320L|HSPBP1_ENST00000433386.2_Silent_p.L320L	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	323					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)	p.L320L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGTGGCGGAGGAGCTCCTCCA	0.657																																						ENST00000255631.5																			1	Substitution - coding silent(1)	p.L320L(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(958-960)ctC>ctG		HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1							83.0	77.0	79.0					19																	55776691		2203	4300	6503	SO:0001819	synonymous_variant	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55776691G>C		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.960C>G	19.37:g.55776691G>C						HSPBP1_ENST00000376343.3_Silent_p.L218L|HSPBP1_ENST00000433386.2_Silent_p.L320L|HSPBP1_ENST00000587922.1_Silent_p.L320L	p.L320L	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	8	1270	-			323					B3KQP0|B4DG11|O95351|Q6ZNU5	Silent	SNP	ENST00000255631.5	37	c.960C>G	CCDS33111.1																																																																																				0.657	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		82	89	0	0	0	1	0	82	89				
MSH3	4437	broad.mit.edu	37	5	80063916	80063916	+	Missense_Mutation	SNP	G	G	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:80063916G>T	ENST00000265081.6	+	14	2141	c.2061G>T	c.(2059-2061)aaG>aaT	p.K687N		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	687					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATTACTTAAAGATACTCAATG	0.398								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2059-2061)aaG>aaT	Mismatch excision repair (MMR)	mutS homolog 3							100.0	102.0	102.0					5																	80063916		2203	4299	6502	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80063916G>T	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2061G>T	5.37:g.80063916G>T	ENSP00000265081:p.Lys687Asn						p.K687N	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	14	2141	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	687					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.2061G>T	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	2.079	-0.411130	0.04799	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.90385	-2.66	5.73	0.528	0.17089	DNA mismatch repair protein MutS, core (3);	0.261109	0.49305	D	0.000155	T	0.70107	0.3186	N	0.02865	-0.47	0.28782	N	0.899797	B	0.12013	0.005	B	0.19391	0.025	T	0.58278	-0.7664	9	.	.	.	-10.564	1.7683	0.03007	0.196:0.1958:0.4217:0.1864	.	687	P20585	MSH3_HUMAN	N	687;678	ENSP00000265081:K687N	.	K	+	3	2	MSH3	80099672	1.000000	0.71417	0.719000	0.30619	0.621000	0.37620	0.540000	0.23191	0.132000	0.18615	-0.150000	0.13652	AAG		0.398	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		51	57	1	0	2.69953e-25	1	2.84625e-25	51	57				
KMT2D	8085	broad.mit.edu	37	12	49423200	49423200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:49423200G>A	ENST00000301067.7	-	43	14058	c.14059C>T	c.(14059-14061)Cag>Tag	p.Q4687*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4687					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCCTCAGTCTGATTGTGAGGG	0.542																																						ENST00000301067.7																			0											c.(14059-14061)Cag>Tag		lysine (K)-specific methyltransferase 2D							32.0	33.0	33.0					12																	49423200		1912	4104	6016	SO:0001587	stop_gained	8085							g.chr12:49423200G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14059C>T	12.37:g.49423200G>A	ENSP00000301067:p.Gln4687*						p.Q4687*	NM_003482.3	NP_003473.3					43	14058	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.14059C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	55	24.010715	0.99958	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.27	5.27	0.74061	.	0.000000	0.36409	N	0.002604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0416	0.89320	0.0:0.0:1.0:0.0	.	.	.	.	X	4687	.	ENSP00000301067:Q4687X	Q	-	1	0	MLL2	47709467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.303000	0.65738	2.645000	0.89757	0.655000	0.94253	CAG		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			8	7	0	0	0	1	0	8	7				
TRIM38	10475	broad.mit.edu	37	6	25966997	25966997	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:25966997G>A	ENST00000357085.3	+	3	723	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	TRIM38_ENST00000349458.3_Missense_Mutation_p.A83T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	83					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CCTCATTGAAGCCCTCAAAGA	0.542																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(247-249)Gcc>Acc		tripartite motif containing 38							58.0	56.0	57.0					6																	25966997		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25966997G>A	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.247G>A	6.37:g.25966997G>A	ENSP00000349596:p.Ala83Thr					TRIM38_ENST00000349458.3_Missense_Mutation_p.A83T	p.A83T	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			3	723	+			83					B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.247G>A	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	g	9.330	1.060406	0.19987	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.17213	2.29;2.29;2.29	4.37	1.58	0.23477	Zinc finger, RING/FYVE/PHD-type (1);	0.785518	0.10855	N	0.626797	T	0.02571	0.0078	N	0.20986	0.625	0.09310	N	1	B;B	0.33694	0.421;0.421	B;B	0.30646	0.118;0.118	T	0.45011	-0.9290	10	0.13853	T	0.58	.	5.8262	0.18554	0.3421:0.0:0.6579:0.0	.	83;83	B2R862;O00635	.;TRI38_HUMAN	T	83	ENSP00000443976:A83T;ENSP00000230099:A83T;ENSP00000349596:A83T	ENSP00000230099:A83T	A	+	1	0	TRIM38	26074976	0.001000	0.12720	0.000000	0.03702	0.448000	0.32197	0.992000	0.29667	0.348000	0.23949	0.585000	0.79938	GCC		0.542	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			22	40	0	0	0	1	0	22	40				
NFU1	27247	broad.mit.edu	37	2	69659119	69659119	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:69659119C>G	ENST00000410022.2	-	2	286	c.81G>C	c.(79-81)aaG>aaC	p.K27N	NFU1_ENST00000394305.1_5'UTR|NFU1_ENST00000303698.3_Missense_Mutation_p.K3N|NFU1_ENST00000471185.1_5'UTR	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	27					iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TGTATGGATTCTTCAACATAT	0.353																																						ENST00000410022.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						c.(79-81)aaG>aaC		NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)							120.0	114.0	116.0					2																	69659119		2203	4300	6503	SO:0001583	missense	27247				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding	g.chr2:69659119C>G	AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"""HIRA interacting protein 5"", ""NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"""	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.81G>C	2.37:g.69659119C>G	ENSP00000387219:p.Lys27Asn					NFU1_ENST00000394305.1_5'UTR|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000303698.3_Missense_Mutation_p.K3N	p.K27N	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN			2	286	-			27					B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	37	c.81G>C	CCDS33217.1	.	.	.	.	.	.	.	.	.	.	C	0.048	-1.258819	0.01445	.	.	ENSG00000169599	ENST00000410022;ENST00000303698	T;T	0.64260	-0.09;-0.09	2.51	0.596	0.17496	.	1.360800	0.05075	U	0.482324	T	0.44953	0.1318	N	0.14661	0.345	0.20703	N	0.999866	B;B	0.26975	0.021;0.165	B;B	0.31751	0.025;0.135	T	0.41034	-0.9531	10	0.42905	T	0.14	-1.2292	4.1345	0.10164	0.0:0.5246:0.0:0.4754	.	3;27	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	N	27;3	ENSP00000387219:K27N;ENSP00000306965:K3N	ENSP00000306965:K3N	K	-	3	2	NFU1	69512623	0.364000	0.24997	0.342000	0.25602	0.053000	0.15095	0.465000	0.22004	0.361000	0.24292	0.655000	0.94253	AAG		0.353	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		19	35	0	0	0	1	0	19	35				
NELFCD	51497	broad.mit.edu	37	20	57565975	57565975	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:57565975G>A	ENST00000344018.3	+	8	853	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	NELFCD_ENST00000602795.1_Missense_Mutation_p.A285T			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	276					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)		p.A276P(1)									AGGTCATGACGCCAGTCAGAT	0.507																																						ENST00000602795.1																			1	Substitution - Missense(1)	p.A276P(1)	lung(1)								c.(853-855)Gcc>Acc		negative elongation factor complex member C/D							88.0	88.0	88.0					20																	57565975		2203	4300	6503	SO:0001583	missense	51497							g.chr20:57565975G>A	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.826G>A	20.37:g.57565975G>A	ENSP00000342300:p.Ala276Thr					NELFCD_ENST00000344018.3_Missense_Mutation_p.A276T	p.A285T							8	901	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.853G>A		.	.	.	.	.	.	.	.	.	.	G	19.15	3.770975	0.69992	.	.	ENSG00000101158	ENST00000344018	.	.	.	6.07	6.07	0.98685	.	0.048386	0.85682	D	0.000000	T	0.43875	0.1267	N	0.12182	0.205	0.80722	D	1	P;P	0.52061	0.936;0.95	B;P	0.45829	0.408;0.494	T	0.34104	-0.9842	9	0.33940	T	0.23	-28.9229	20.6452	0.99591	0.0:0.0:1.0:0.0	.	285;276	E1P5H4;Q8IXH7	.;NELFD_HUMAN	T	276	.	ENSP00000342300:A276T	A	+	1	0	TH1L	56999370	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	9.751000	0.98889	2.885000	0.99019	0.650000	0.86243	GCC		0.507	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		4	123	0	0	0	1	0	4	123				
ZNF431	170959	broad.mit.edu	37	19	21365997	21365997	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:21365997C>T	ENST00000311048.7	+	5	1035	c.891C>T	c.(889-891)ttC>ttT	p.F297F	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	297					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GCAAAGCCTTCAACCGGTCCT	0.408																																						ENST00000311048.7																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(889-891)ttC>ttT		zinc finger protein 431							58.0	61.0	60.0					19																	21365997		2201	4299	6500	SO:0001819	synonymous_variant	170959				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21365997C>T	AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.891C>T	19.37:g.21365997C>T						ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	p.F297F	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN			5	1035	+			297					A8KAK7|Q8IWC4	Silent	SNP	ENST00000311048.7	37	c.891C>T	CCDS32979.1																																																																																				0.408	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098		6	142	0	0	0	1	0	6	142				
TBX18	9096	broad.mit.edu	37	6	85446921	85446921	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:85446921C>G	ENST00000369663.5	-	8	1643	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	436					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TTGTAGGTCTCTGCCAAAGAT	0.612																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1306-1308)Gag>Cag		T-box 18							119.0	104.0	109.0					6																	85446921		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446921C>G	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1306G>C	6.37:g.85446921C>G	ENSP00000358677:p.Glu436Gln					TBX18_ENST00000606784.1_Intron	p.E436Q	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1643	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	436					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1306G>C	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295382	0.40594	.	.	ENSG00000112837	ENST00000369663	D	0.86956	-2.19	5.18	5.18	0.71444	.	.	.	.	.	T	0.75213	0.3819	N	0.24115	0.695	0.54753	D	0.999984	D	0.54047	0.964	B	0.43251	0.413	T	0.76688	-0.2867	9	0.31617	T	0.26	.	18.6703	0.91508	0.0:1.0:0.0:0.0	.	436	O95935	TBX18_HUMAN	Q	436	ENSP00000358677:E436Q	ENSP00000358677:E436Q	E	-	1	0	TBX18	85503640	1.000000	0.71417	0.968000	0.41197	0.289000	0.27227	6.950000	0.75977	2.409000	0.81822	0.585000	0.79938	GAG		0.612	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		35	9	0	0	0	1	0	35	9				
MTF2	22823	broad.mit.edu	37	1	93575922	93575922	+	Missense_Mutation	SNP	A	A	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:93575922A>T	ENST00000370298.4	+	2	430	c.141A>T	c.(139-141)gaA>gaT	p.E47D	MTF2_ENST00000370303.4_Missense_Mutation_p.E47D|MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	47	Tudor.				chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GTAAATTTGAAGAGGGTCAGG	0.418																																						ENST00000370298.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(139-141)gaA>gaT		metal response element binding transcription factor 2							149.0	148.0	149.0					1																	93575922		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93575922A>T	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.141A>T	1.37:g.93575922A>T	ENSP00000359321:p.Glu47Asp					MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_5'UTR|MTF2_ENST00000540243.1_Intron|MTF2_ENST00000370303.4_Missense_Mutation_p.E47D	p.E47D	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	2	430	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	47					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.141A>T	CCDS742.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743810	0.49151	.	.	ENSG00000143033	ENST00000370298;ENST00000370303	T;T	0.44083	0.93;0.93	5.44	5.44	0.79542	Tudor domain (1);	0.202957	0.52532	D	0.000079	T	0.22399	0.0540	L	0.47716	1.5	0.80722	D	1	P;P	0.42785	0.79;0.478	B;B	0.42188	0.379;0.191	T	0.04128	-1.0975	10	0.17369	T	0.5	-8.2847	11.4348	0.50062	0.9277:0.0:0.0723:0.0	.	47;47	B1AKT6;Q9Y483	.;MTF2_HUMAN	D	47	ENSP00000359321:E47D;ENSP00000359326:E47D	ENSP00000359321:E47D	E	+	3	2	MTF2	93348510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.886000	0.56190	2.073000	0.62155	0.455000	0.32223	GAA		0.418	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		4	161	0	0	0	1	0	4	161				
SKP2	6502	broad.mit.edu	37	5	36163786	36163786	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:36163786G>C	ENST00000274255.6	+	3	516	c.320G>C	c.(319-321)gGa>gCa	p.G107A	SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.G107A	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	107	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCTCTTGGGAATCTTTTCC	0.478																																						ENST00000274255.6																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(319-321)gGa>gCa		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							173.0	148.0	156.0					5																	36163786		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36163786G>C	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.320G>C	5.37:g.36163786G>C	ENSP00000274255:p.Gly107Ala					SKP2_ENST00000274254.5_Missense_Mutation_p.G107A|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron	p.G107A	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	516	+	all_lung(31;5.63e-05)		107			F-box.		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.320G>C	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764880	0.31228	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151	T;T;T	0.39592	1.07;1.07;1.07	5.06	5.06	0.68205	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.162027	0.53938	D	0.000041	T	0.22589	0.0545	N	0.16201	0.385	0.80722	D	1	B;B	0.26775	0.159;0.009	B;B	0.16722	0.016;0.012	T	0.07139	-1.0788	10	0.07030	T	0.85	-19.5871	13.6729	0.62436	0.0:0.155:0.845:0.0	.	107;107	Q13309-2;Q13309	.;SKP2_HUMAN	A	107;107;73;107	ENSP00000274254:G107A;ENSP00000274255:G107A;ENSP00000423188:G107A	ENSP00000274254:G107A	G	+	2	0	SKP2	36199543	1.000000	0.71417	0.991000	0.47740	0.825000	0.46686	4.256000	0.58810	2.793000	0.96121	0.650000	0.86243	GGA		0.478	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		26	40	0	0	0	1	0	26	40				
KGFLP2	654466	broad.mit.edu	37	9	41963929	41963929	+	lincRNA	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr9:41963929G>C	ENST00000454645.1	-	0	666					NR_003670.1																						CTACTGTCCTGATTTCCATGA	0.398																																						ENST00000454645.1																			0																																																			654466							g.chr9:41963929G>C																													9.37:g.41963929G>C								NR_003670.1						0	666	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.398	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			9	127	0	0	0	1	0	9	127				
HSPA12B	116835	broad.mit.edu	37	20	3726181	3726181	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:3726181G>C	ENST00000254963.2	+	6	640	c.495G>C	c.(493-495)aaG>aaC	p.K165N	HSPA12B_ENST00000542646.1_5'UTR	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	165							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						TAAATGGAAAGACGATGCCCG	0.637																																						ENST00000254963.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(493-495)aaG>aaC		heat shock 70kD protein 12B							85.0	81.0	82.0					20																	3726181		2203	4300	6503	SO:0001583	missense	116835						ATP binding	g.chr20:3726181G>C	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.495G>C	20.37:g.3726181G>C	ENSP00000254963:p.Lys165Asn					HSPA12B_ENST00000542646.1_5'UTR	p.K165N	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN			6	640	+			165					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.495G>C	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881890	0.72294	.	.	ENSG00000132622	ENST00000254963;ENST00000399701	T;T	0.04194	3.68;3.68	4.84	3.9	0.45041	.	0.110395	0.64402	D	0.000015	T	0.16599	0.0399	M	0.82323	2.585	0.80722	D	1	P;P	0.52577	0.846;0.954	B;P	0.58331	0.328;0.837	T	0.05419	-1.0886	10	0.23891	T	0.37	-13.0186	11.4761	0.50300	0.088:0.0:0.912:0.0	.	165;165	B7ZLP2;Q96MM6	.;HS12B_HUMAN	N	165;79	ENSP00000254963:K165N;ENSP00000382608:K79N	ENSP00000254963:K165N	K	+	3	2	HSPA12B	3674181	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.309000	0.43699	1.424000	0.47217	-0.219000	0.12488	AAG		0.637	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		32	58	0	0	0	1	0	32	58				
LRRK1	79705	broad.mit.edu	37	15	101606073	101606073	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr15:101606073G>A	ENST00000388948.3	+	32	5790	c.5431G>A	c.(5431-5433)Gac>Aac	p.D1811N	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000284395.5_Missense_Mutation_p.D1808N	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCTGAGGGGGACTCCATCGC	0.632																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(5422-5424)Gac>Aac		leucine-rich repeat kinase 1							51.0	59.0	57.0					15																	101606073		2067	4195	6262	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101606073G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5431G>A	15.37:g.101606073G>A	ENSP00000373600:p.Asp1811Asn					LRRK1_ENST00000388948.3_Missense_Mutation_p.D1811N|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	p.D1808N			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		33	5822	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1811						Missense_Mutation	SNP	ENST00000388948.3	37	c.5422G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	9.311	1.055460	0.19907	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.72167	-0.62;-0.63	5.5	5.5	0.81552	.	0.441691	0.26255	N	0.025435	T	0.59473	0.2196	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50013	-0.8877	10	0.40728	T	0.16	.	10.5138	0.44876	0.1183:0.0:0.8817:0.0	.	1811	Q38SD2	LRRK1_HUMAN	N	1811;1808;502;365	ENSP00000373600:D1811N;ENSP00000284395:D1808N	ENSP00000284395:D1808N	D	+	1	0	LRRK1	99423596	0.004000	0.15560	0.017000	0.16124	0.322000	0.28314	1.035000	0.30216	2.569000	0.86673	0.655000	0.94253	GAC		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		27	38	0	0	0	1	0	27	38				
NEURL4	84461	broad.mit.edu	37	17	7230030	7230030	+	Splice_Site	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:7230030C>G	ENST00000399464.2	-	4	1107	c.1092G>C	c.(1090-1092)gaG>gaC	p.E364D	NEURL4_ENST00000315614.7_Splice_Site_p.E364D|NEURL4_ENST00000570460.1_Splice_Site_p.E342D	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	364	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTGCACACCTCAAACATCT	0.557																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e4+1		neuralized E3 ubiquitin protein ligase 4							35.0	36.0	36.0					17																	7230030		1957	4147	6104	SO:0001630	splice_region_variant	84461							g.chr17:7230030C>G		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1092+1G>C	17.37:g.7230030C>G						NEURL4_ENST00000315614.7_Splice_Site_p.E364_splice|NEURL4_ENST00000570460.1_Splice_Site_p.E342_splice	p.E364_splice	NM_032442.2	NP_115818.2					4	1107	-								Q6GPI8|Q96IU9|Q9H0B0	Splice_Site	SNP	ENST00000399464.2	37	c.1092_splice	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513689	0.85389	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.37058	1.24;1.22	4.79	4.79	0.61399	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.86953	2.85	0.54753	D	0.999983	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	T	0.69709	-0.5072	9	.	.	.	-31.1065	15.2186	0.73292	0.0:1.0:0.0:0.0	.	364;364	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	D	364	ENSP00000319826:E364D;ENSP00000382390:E364D	.	E	-	3	2	NEURL4	7170754	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.052000	0.76634	2.653000	0.90120	0.655000	0.94253	GAG		0.557	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442	Missense_Mutation	12	27	0	0	0	1	0	12	27				
TEX15	56154	broad.mit.edu	37	8	30705086	30705086	+	Missense_Mutation	SNP	T	T	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr8:30705086T>C	ENST00000256246.2	-	1	1522	c.1448A>G	c.(1447-1449)gAg>gGg	p.E483G	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	483					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTCTTTAGCCTCATTTTGGTT	0.328																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1447-1449)gAg>gGg		testis expressed 15							157.0	148.0	151.0					8																	30705086		2202	4299	6501	SO:0001583	missense	56154							g.chr8:30705086T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1448A>G	8.37:g.30705086T>C	ENSP00000256246:p.Glu483Gly						p.E483G	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1522	-			483						Missense_Mutation	SNP	ENST00000256246.2	37	c.1448A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.055755	0.76074	.	.	ENSG00000133863	ENST00000256246	T	0.11495	2.77	5.61	1.56	0.23342	.	0.489195	0.19046	N	0.124173	T	0.12987	0.0315	L	0.27053	0.805	0.09310	N	1	D	0.67145	0.996	D	0.63793	0.918	T	0.12116	-1.0560	10	0.87932	D	0	.	1.5193	0.02512	0.2919:0.0833:0.151:0.4737	.	483	Q9BXT5	TEX15_HUMAN	G	483	ENSP00000256246:E483G	ENSP00000256246:E483G	E	-	2	0	TEX15	30824628	0.004000	0.15560	0.107000	0.21349	0.717000	0.41224	0.769000	0.26604	0.459000	0.27016	0.528000	0.53228	GAG		0.328	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			6	243	0	0	0	1	0	6	243				
LRP1B	53353	broad.mit.edu	37	2	141812813	141812813	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:141812813C>T	ENST00000389484.3	-	10	2395	c.1424G>A	c.(1423-1425)tGt>tAt	p.C475Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	475	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCGACTTCACATGCATGGCT	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1423-1425)tGt>tAt		low density lipoprotein receptor-related protein 1B							93.0	83.0	86.0					2																	141812813		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141812813C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1424G>A	2.37:g.141812813C>T	ENSP00000374135:p.Cys475Tyr	TSP Lung(27;0.18)					p.C475Y	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	10	2395	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	475					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1424G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452966	0.84209	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99232	-5.6	5.45	5.45	0.79879	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	U	0.000000	D	0.99597	0.9854	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98032	1.0377	10	0.87932	D	0	.	19.2912	0.94100	0.0:1.0:0.0:0.0	.	475	Q9NZR2	LRP1B_HUMAN	Y	475;413	ENSP00000374135:C475Y	ENSP00000374135:C475Y	C	-	2	0	LRP1B	141529283	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	7.396000	0.79891	2.569000	0.86673	0.557000	0.71058	TGT		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	80	0	0	0	1	0	4	80				
MAP1B	4131	broad.mit.edu	37	5	71495348	71495348	+	Missense_Mutation	SNP	A	A	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr5:71495348A>G	ENST00000296755.7	+	5	6464	c.6166A>G	c.(6166-6168)Aca>Gca	p.T2056A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2056					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGGCATCCACATATTCCTA	0.463																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(6166-6168)Aca>Gca		microtubule-associated protein 1B							121.0	132.0	128.0					5																	71495348		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495348A>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6166A>G	5.37:g.71495348A>G	ENSP00000296755:p.Thr2056Ala						p.T2056A	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6464	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2056					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.6166A>G	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	5.861	0.343060	0.11069	.	.	ENSG00000131711	ENST00000296755	T	0.03330	3.97	5.68	0.464	0.16706	.	0.274240	0.31772	N	0.007100	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.013;0.0	B;B	0.06405	0.002;0.0	T	0.46748	-0.9169	10	0.15499	T	0.54	-4.2479	2.952	0.05865	0.6332:0.1218:0.1284:0.1165	.	1930;2056	A2BDK6;P46821	.;MAP1B_HUMAN	A	2056	ENSP00000296755:T2056A	ENSP00000296755:T2056A	T	+	1	0	MAP1B	71531104	0.001000	0.12720	0.003000	0.11579	0.330000	0.28571	0.492000	0.22435	-0.132000	0.11557	0.533000	0.62120	ACA		0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		23	122	0	0	0	1	0	23	122				
CNOT2	4848	broad.mit.edu	37	12	70729300	70729300	+	Missense_Mutation	SNP	C	C	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:70729300C>A	ENST00000418359.3	+	9	1183	c.732C>A	c.(730-732)aaC>aaA	p.N244K	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.N244K	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	244					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAAGTGGTAACCCAACTCCAT	0.413																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(730-732)aaC>aaA		CCR4-NOT transcription complex, subunit 2							139.0	128.0	132.0					12																	70729300		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70729300C>A	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.732C>A	12.37:g.70729300C>A	ENSP00000412091:p.Asn244Lys					CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.N244K	p.N244K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		8	1311	+	Renal(347;0.236)		244					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.732C>A	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201340	0.58234	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000552483;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.37	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	L	0.51422	1.61	0.58432	D	0.999991	P	0.43788	0.817	B	0.41571	0.36	T	0.57659	-0.7773	10	0.10902	T	0.67	-7.6657	9.4643	0.38802	0.0:0.5675:0.0:0.4325	.	244	Q9NZN8	CNOT2_HUMAN	K	244;244;244;107;183;98;235;244;54	ENSP00000450318:N244K;ENSP00000229195:N244K;ENSP00000412091:N244K;ENSP00000448490:N107K;ENSP00000447497:N183K;ENSP00000450077:N98K;ENSP00000449659:N235K;ENSP00000449260:N244K;ENSP00000448499:N54K	ENSP00000229195:N244K	N	+	3	2	CNOT2	69015567	0.975000	0.34042	1.000000	0.80357	0.996000	0.88848	0.208000	0.17415	0.207000	0.20607	0.650000	0.86243	AAC		0.413	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			55	90	1	0	9.79885e-19	1	1.02203e-18	55	90				
CTAGE5	4253	broad.mit.edu	37	14	39818085	39818085	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr14:39818085C>G	ENST00000280083.3	+	23	2466	c.2152C>G	c.(2152-2154)Cct>Gct	p.P718A	CTAGE5_ENST00000341502.5_Missense_Mutation_p.P718A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P689A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P643A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P675A|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.P1253A|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P723A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P706A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P689A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P689A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P638A			O15320	CTGE5_HUMAN	CTAGE family, member 5	718	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AAGAGGACCTCCTTTCCCCCC	0.532																																						ENST00000553728.1																			0											c.(3757-3759)Cct>Gct									113.0	119.0	117.0					14																	39818085		2203	4300	6503	SO:0001583	missense	4253							g.chr14:39818085C>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2152C>G	14.37:g.39818085C>G	ENSP00000280083:p.Pro718Ala					CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P718A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P689A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P638A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P723A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P675A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P643A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P689A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P689A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P706A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P718A	p.P1253A							27	3970	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3757C>G	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315448	0.60524	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.64	2.82	0.32997	.	0.263259	0.20363	N	0.093817	T	0.61813	0.2377	M	0.83312	2.635	0.28600	N	0.909218	P;P;P;P;P	0.52842	0.956;0.717;0.956;0.717;0.956	P;B;P;B;P	0.50791	0.65;0.352;0.65;0.352;0.65	T	0.59521	-0.7439	9	.	.	.	.	8.6948	0.34289	0.0:0.7656:0.0:0.2344	.	723;675;718;646;706	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	A	1253;706;638;689;718;723;718;643;675;689	ENSP00000452252:P1253A;ENSP00000343897:P706A;ENSP00000450869:P638A;ENSP00000379468:P689A;ENSP00000339286:P718A;ENSP00000379462:P723A;ENSP00000280083:P718A;ENSP00000452562:P643A;ENSP00000343912:P675A;ENSP00000450449:P689A	.	P	+	1	0	CTAGE5;RP11-407N17.3	38887836	0.995000	0.38212	0.717000	0.30585	0.898000	0.52572	2.083000	0.41615	0.309000	0.22966	0.655000	0.94253	CCT		0.532	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		11	231	0	0	0	1	0	11	231				
MYH7B	57644	broad.mit.edu	37	20	33577935	33577935	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:33577935C>T	ENST00000262873.7	+	19	2104	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	629	Actin-binding. {ECO:0000250}.|Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A671V(2)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGAATTATGCGGGCTCCTGC	0.547																																						ENST00000262873.7																			2	Substitution - Missense(2)	p.A671V(2)	urinary_tract(1)|lung(1)	NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2011-2013)gCg>gTg		myosin, heavy chain 7B, cardiac muscle, beta							85.0	93.0	90.0					20																	33577935		2093	4225	6318	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33577935C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2012C>T	20.37:g.33577935C>T	ENSP00000262873:p.Ala671Val						p.A671V	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		19	2104	+			629			Actin-binding (By similarity).|Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2012C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	8.249	0.808473	0.16467	.	.	ENSG00000078814	ENST00000262873	D	0.87966	-2.32	4.59	4.59	0.56863	Myosin head, motor domain (2);	0.203453	0.24633	N	0.036873	T	0.73737	0.3625	N	0.19112	0.55	0.25778	N	0.984766	B	0.11235	0.004	B	0.04013	0.001	T	0.56189	-0.8020	10	0.22706	T	0.39	.	5.4356	0.16480	0.0:0.7552:0.0:0.2448	.	629	A7E2Y1	MYH7B_HUMAN	V	671	ENSP00000262873:A671V	ENSP00000262873:A671V	A	+	2	0	MYH7B	33041596	0.135000	0.22499	0.969000	0.41365	0.450000	0.32258	2.110000	0.41873	2.387000	0.81309	0.511000	0.50034	GCG		0.547	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		9	1083	0	0	0	1	0	9	1083				
ALKBH7	84266	broad.mit.edu	37	19	6374950	6374950	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:6374950C>T	ENST00000245812.3	+	4	1020	c.632C>T	c.(631-633)cCa>cTa	p.P211L	ALKBH7_ENST00000596657.1_Missense_Mutation_p.P69L|ALKBH7_ENST00000599849.1_Missense_Mutation_p.P150L	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	211					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCATGGGGCCAGGGGAGTCT	0.612																																						ENST00000245812.3																			0				breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(631-633)cCa>cTa		alkB, alkylation repair homolog 7 (E. coli)							31.0	34.0	33.0					19																	6374950		2202	4298	6500	SO:0001583	missense	84266					extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:6374950C>T	AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"""Alkylation repair homologs"""	21306	protein-coding gene	gene with protein product		613305	"""spermatogenesis associated 11"""	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.632C>T	19.37:g.6374950C>T	ENSP00000245812:p.Pro211Leu					ALKBH7_ENST00000599849.1_Missense_Mutation_p.P150L|ALKBH7_ENST00000596657.1_Missense_Mutation_p.P69L	p.P211L	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN			4	1020	+			211					B2R4U9|Q53FF3	Missense_Mutation	SNP	ENST00000245812.3	37	c.632C>T	CCDS12163.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432474	0.43224	.	.	ENSG00000125652	ENST00000245812	T	0.44482	0.92	4.6	2.42	0.29668	.	0.582028	0.14417	N	0.320917	T	0.24699	0.0599	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.30854	T	0.27	-21.3478	5.1722	0.15116	0.0:0.6357:0.1736:0.1907	.	211	Q9BT30	ALKB7_HUMAN	L	211	ENSP00000245812:P211L	ENSP00000245812:P211L	P	+	2	0	ALKBH7	6325950	0.002000	0.14202	0.001000	0.08648	0.331000	0.28603	0.941000	0.29005	0.625000	0.30304	0.455000	0.32223	CCA		0.612	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1	NM_032306		31	47	0	0	0	1	0	31	47				
TTN	7273	broad.mit.edu	37	2	179392441	179392441	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:179392441C>G	ENST00000591111.1	-	312	102713	c.102489G>C	c.(102487-102489)ttG>ttC	p.L34163F	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L26931F|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L33236F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L26864F|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L35804F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L26739F|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34163	Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTGTTCTCAATACTACCT	0.468																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(107410-107412)ttG>ttC		titin							110.0	108.0	109.0					2																	179392441		2038	4200	6238	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179392441C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102489G>C	2.37:g.179392441C>G	ENSP00000465570:p.Leu34163Phe					TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L26739F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L26864F|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L33236F|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L26931F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L34163F	p.L35804F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		362	107636	-			34163					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.107412G>C		.	.	.	.	.	.	.	.	.	.	C	13.56	2.273644	0.40194	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66460	-0.21;0.11;0.09;0.09	5.95	5.95	0.96441	.	.	.	.	.	T	0.56891	0.2016	N	0.19112	0.55	0.34764	D	0.733071	P;P;P;P	0.43477	0.808;0.808;0.808;0.808	B;B;B;B	0.43508	0.422;0.422;0.422;0.422	T	0.70174	-0.4944	9	0.87932	D	0	.	13.5674	0.61826	0.0:0.9293:0.0:0.0707	.	26739;26864;26931;34163	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	33236;26739;26931;26864;26736	ENSP00000343764:L33236F;ENSP00000434586:L26739F;ENSP00000340554:L26931F;ENSP00000352154:L26864F	ENSP00000340554:L26931F	L	-	3	2	TTN	179100687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.894000	0.56250	2.825000	0.97269	0.655000	0.94253	TTG		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	27	0	0	0	1	0	20	27				
NOS3	4846	broad.mit.edu	37	7	150710425	150710425	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:150710425C>T	ENST00000297494.3	+	25	3570	c.3213C>T	c.(3211-3213)ggC>ggT	p.G1071G	ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000377974.2_3'UTR|NOS3_ENST00000477227.1_3'UTR|NOS3_ENST00000461406.1_Silent_p.G865G|ATG9B_ENST00000494791.1_5'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTGTTTGGCCGAGTCCTCA	0.617											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3211-3213)ggC>ggT		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						65.0	60.0	61.0					7																	150710425		2203	4300	6503	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150710425C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.3213C>T	7.37:g.150710425C>T			OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1734	ATG9B_ENST00000377974.2_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|NOS3_ENST00000461406.1_Silent_p.G865G	p.G1071G	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	25	3570	+	all_neural(206;0.219)		1071					Q495E5	Silent	SNP	ENST00000297494.3	37	c.3213C>T	CCDS5912.1																																																																																				0.617	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		4	75	0	0	0	1	0	4	75				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		10	418	0	0	0	1	0	10	418				
NLRC5	84166	broad.mit.edu	37	16	57074583	57074583	+	Silent	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr16:57074583C>G	ENST00000262510.6	+	17	3117	c.2892C>G	c.(2890-2892)ctC>ctG	p.L964L	NLRC5_ENST00000539144.1_Silent_p.L964L|NLRC5_ENST00000308149.7_Silent_p.L964L|NLRC5_ENST00000436936.1_Silent_p.L964L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	964					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTGACAGCCTCATGCTCCAGA	0.602																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(2890-2892)ctC>ctG		NLR family, CARD domain containing 5							122.0	99.0	107.0					16																	57074583		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57074583C>G	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2892C>G	16.37:g.57074583C>G						NLRC5_ENST00000308149.7_Silent_p.L964L|NLRC5_ENST00000539144.1_Silent_p.L964L|NLRC5_ENST00000262510.6_Silent_p.L964L	p.L964L			Q86WI3	NLRC5_HUMAN			17	3117	+		all_neural(199;0.225)	964					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.2892C>G	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258608	0.23051	.	.	ENSG00000140853	ENST00000538805	.	.	.	3.62	0.422	0.16457	.	.	.	.	.	T	0.32645	0.0836	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28299	-1.0048	4	.	.	.	.	8.2988	0.32001	0.0:0.8409:0.0:0.1591	.	.	.	.	D	717	.	.	H	+	1	0	NLRC5	55632084	0.000000	0.05858	0.000000	0.03702	0.725000	0.41563	-1.403000	0.02497	0.094000	0.17404	0.557000	0.71058	CAT		0.602	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		38	51	0	0	0	1	0	38	51				
TRAIP	10293	broad.mit.edu	37	3	49867055	49867055	+	Missense_Mutation	SNP	C	C	G			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:49867055C>G	ENST00000331456.2	-	13	1344	c.1231G>C	c.(1231-1233)Gat>Cat	p.D411H	TRAIP_ENST00000469027.1_Missense_Mutation_p.D256H	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	411	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCACCACATCTTTGCTGCAA	0.572																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1231-1233)Gat>Cat		TRAF interacting protein							69.0	71.0	70.0					3																	49867055		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49867055C>G	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1231G>C	3.37:g.49867055C>G	ENSP00000328203:p.Asp411His					TRAIP_ENST00000469027.1_Missense_Mutation_p.D256H	p.D411H	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	13	1344	-			411			Interaction with CYLD.		B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.1231G>C	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409969	0.62399	.	.	ENSG00000183763	ENST00000331456;ENST00000469027	T	0.50548	0.74	4.89	4.01	0.46588	.	0.107006	0.64402	D	0.000006	T	0.45935	0.1367	L	0.44542	1.39	0.28991	N	0.888078	D;P	0.58620	0.983;0.947	P;P	0.50231	0.635;0.527	T	0.41945	-0.9480	10	0.44086	T	0.13	-11.0947	9.1575	0.37000	0.0:0.9009:0.0:0.0991	.	411;411	A8K807;Q9BWF2	.;TRAIP_HUMAN	H	411;256	ENSP00000420085:D256H	ENSP00000328203:D411H	D	-	1	0	TRAIP	49842059	0.999000	0.42202	1.000000	0.80357	0.914000	0.54420	1.178000	0.31981	1.416000	0.47057	0.655000	0.94253	GAT		0.572	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		28	47	0	0	0	1	0	28	47				
RP11-478B9.1	0	broad.mit.edu	37	12	45458578	45458578	+	RNA	SNP	G	G	A	rs548604258		TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr12:45458578G>A	ENST00000548424.1	+	0	448																											ACAAACTGTCGGCTACTAGAG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21491	0.0		0.001	False		,,,				2504	0.0					ENST00000548424.1																			0																																																			0							g.chr12:45458578G>A																													12.37:g.45458578G>A														0	448	+									RNA	SNP	ENST00000548424.1	37																																																																																						0.463	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			12	26	0	0	0	1	0	12	26				
CALCOCO2	10241	broad.mit.edu	37	17	46929948	46929948	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr17:46929948G>A	ENST00000258947.3	+	8	884	c.783G>A	c.(781-783)ctG>ctA	p.L261L	CALCOCO2_ENST00000508679.1_Silent_p.L189L|CALCOCO2_ENST00000509507.1_Silent_p.L282L|CALCOCO2_ENST00000416445.2_Silent_p.L219L|CALCOCO2_ENST00000448105.2_Silent_p.L285L	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	261					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TAGAGCAGCTGAAAAAGGAAA	0.388																																						ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(781-783)ctG>ctA		calcium binding and coiled-coil domain 2							74.0	73.0	73.0					17																	46929948		2203	4300	6503	SO:0001819	synonymous_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46929948G>A	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.783G>A	17.37:g.46929948G>A						CALCOCO2_ENST00000416445.2_Silent_p.L219L|CALCOCO2_ENST00000448105.2_Silent_p.L285L|CALCOCO2_ENST00000509507.1_Silent_p.L282L|CALCOCO2_ENST00000508679.1_Silent_p.L189L	p.L261L	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN			8	884	+			261					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	ENST00000258947.3	37	c.783G>A	CCDS11538.1																																																																																				0.388	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		49	40	0	0	0	1	0	49	40				
HIVEP3	59269	broad.mit.edu	37	1	42049848	42049848	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:42049848G>A	ENST00000372583.1	-	4	1506	c.621C>T	c.(619-621)ctC>ctT	p.L207L	HIVEP3_ENST00000247584.5_Silent_p.L207L|HIVEP3_ENST00000429157.2_Silent_p.L207L|HIVEP3_ENST00000372584.1_Silent_p.L207L	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	207	ZAS1.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTGCTTCTGGAGCACGCTGG	0.582																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(619-621)ctC>ctT		human immunodeficiency virus type I enhancer binding protein 3							59.0	62.0	61.0					1																	42049848		2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049848G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.621C>T	1.37:g.42049848G>A						HIVEP3_ENST00000429157.2_Silent_p.L207L|HIVEP3_ENST00000372583.1_Silent_p.L207L|HIVEP3_ENST00000247584.5_Silent_p.L207L	p.L207L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1635	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	207			ZAS1.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.621C>T	CCDS463.1																																																																																				0.582	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		47	50	0	0	0	1	0	47	50				
PITRM1	10531	broad.mit.edu	37	10	3180497	3180497	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr10:3180497C>T	ENST00000224949.4	-	26	2984	c.2950G>A	c.(2950-2952)Gag>Aag	p.E984K	PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.E886K|PITRM1_ENST00000380989.2_Missense_Mutation_p.E985K|PITRM1_ENST00000380994.1_Missense_Mutation_p.E542K			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	984					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGCTTCATCTCATCCGAGAGG	0.607																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2953-2955)Gag>Aag		pitrilysin metallopeptidase 1							56.0	63.0	60.0					10																	3180497		2151	4256	6407	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3180497C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2950G>A	10.37:g.3180497C>T	ENSP00000224949:p.Glu984Lys					PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.E886K|PITRM1_ENST00000380994.1_Missense_Mutation_p.E542K|PITRM1_ENST00000224949.4_Missense_Mutation_p.E984K	p.E985K	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			26	2991	-			886					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.2953G>A	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	c	19.45	3.830758	0.71258	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.83	5.83	0.93111	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.093644	0.64402	D	0.000001	T	0.41971	0.1182	M	0.90425	3.115	0.54753	D	0.999989	B;D;P;P;B	0.67145	0.046;0.996;0.716;0.716;0.079	B;D;P;P;B	0.63597	0.089;0.916;0.493;0.493;0.166	T	0.47222	-0.9134	10	0.72032	D	0.01	-45.5863	20.1237	0.97972	0.0:1.0:0.0:0.0	.	977;886;985;984;919	E9PDX6;E7ES23;C9JSL2;Q5JRX3;E9PDX7	.;.;.;PREP_HUMAN;.	K	984;977;985;542;886	ENSP00000224949:E984K;ENSP00000370377:E985K;ENSP00000370382:E542K;ENSP00000401201:E886K	ENSP00000224949:E984K	E	-	1	0	PITRM1	3170497	1.000000	0.71417	0.679000	0.29978	0.002000	0.02628	4.450000	0.60041	2.759000	0.94783	0.561000	0.74099	GAG		0.607	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			38	43	0	0	0	1	0	38	43				
DDX3X	1654	broad.mit.edu	37	X	41193508	41193508	+	Start_Codon_SNP	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chrX:41193508G>C	ENST00000399959.2	+	1	858	c.3G>C	c.(1-3)atG>atC	p.M1I	DDX3X_ENST00000542215.1_5'Flank|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Start_Codon_SNP_p.M1I|DDX3X_ENST00000457138.2_Start_Codon_SNP_p.M1I	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	1					ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTTCAGGGATGAGTCATGTGG	0.612										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1-3)atG>atC		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							50.0	55.0	53.0					X																	41193508		2070	4209	6279	SO:0001582	initiator_codon_variant	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41193508G>C	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.3G>C	X.37:g.41193508G>C	ENSP00000382840:p.Met1Ile	HNSCC(61;0.18)				DDX3X_ENST00000441189.2_Start_Codon_SNP_p.M1I|DDX3X_ENST00000457138.2_Start_Codon_SNP_p.M1I|DDX3X_ENST00000478993.1_3'UTR	p.M1I	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			1	858	+			1					A8K538|B4E3E8|O15536	Translation_Start_Site	SNP	ENST00000399959.2	37	c.3G>C	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789418	0.70337	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000441189	T;T	0.21031	2.05;2.03	4.34	4.34	0.51931	.	0.224693	0.46145	D	0.000313	T	0.37652	0.1011	.	.	.	0.80722	D	1	B;P;B;P;B;B	0.46987	0.393;0.888;0.273;0.525;0.273;0.273	P;P;B;P;B;B	0.54238	0.584;0.746;0.107;0.48;0.38;0.38	T	0.27938	-1.0059	9	0.87932	D	0	-27.1407	13.9503	0.64113	0.0:0.0:1.0:0.0	.	1;1;1;1;13;1	B4DLA0;B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;.;DDX3X_HUMAN	I	1	ENSP00000382840:M1I;ENSP00000392494:M1I	ENSP00000382840:M1I	M	+	3	0	DDX3X	41078452	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.321000	0.89997	2.083000	0.62718	0.513000	0.50165	ATG		0.612	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005	Missense_Mutation	12	3	0	0	0	1	0	12	3				
ST8SIA5	29906	broad.mit.edu	37	18	44261974	44261974	+	Missense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr18:44261974G>A	ENST00000315087.7	-	6	1283	c.623C>T	c.(622-624)aCg>aTg	p.T208M	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.T244M|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.T177M	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	208					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GACCACATCCGTCTTCACCCC	0.532																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(622-624)aCg>aTg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							82.0	66.0	72.0					18																	44261974		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44261974G>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.623C>T	18.37:g.44261974G>A	ENSP00000321343:p.Thr208Met					ST8SIA5_ENST00000536490.1_Missense_Mutation_p.T177M|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.T244M|ST8SIA5_ENST00000590497.1_5'UTR	p.T208M	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			6	1283	-			208					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.623C>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646808	0.87958	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.56444	0.46;0.46;0.46	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.997;1.0	D	0.86752	0.1961	10	0.72032	D	0.01	-2.8769	18.3041	0.90175	0.0:0.0:1.0:0.0	.	177;244;208	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	M	208;244;177	ENSP00000321343:T208M;ENSP00000445492:T244M;ENSP00000443683:T177M	ENSP00000321343:T208M	T	-	2	0	ST8SIA5	42515972	1.000000	0.71417	0.965000	0.40720	0.979000	0.70002	9.343000	0.97047	2.406000	0.81754	0.655000	0.94253	ACG		0.532	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		27	31	0	0	0	1	0	27	31				
LILRA5	353514	broad.mit.edu	37	19	54818780	54818780	+	Missense_Mutation	SNP	C	C	T			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr19:54818780C>T	ENST00000301219.3	-	7	937	c.818G>A	c.(817-819)gGc>gAc	p.G273D	LILRA5_ENST00000346508.3_Missense_Mutation_p.G261D|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	273					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGATCAAGCCGGCCATGCC	0.537																																						ENST00000301219.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(817-819)gGc>gAc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							101.0	94.0	96.0					19																	54818780		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54818780C>T	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.818G>A	19.37:g.54818780C>T	ENSP00000301219:p.Gly273Asp					LILRA5_ENST00000346508.3_Missense_Mutation_p.G261D	p.G273D	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	7	937	-	Ovarian(34;0.19)		273					A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.818G>A	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630150	0.28978	.	.	ENSG00000187116	ENST00000301219;ENST00000346508	T;T	0.00518	6.92;6.86	2.37	-4.23	0.03789	.	3.289810	0.01992	U	0.045634	T	0.00875	0.0029	M	0.89095	3.005	0.09310	N	1	B;P	0.39326	0.042;0.668	B;B	0.39660	0.039;0.306	T	0.42172	-0.9467	10	0.56958	D	0.05	.	4.9728	0.14125	0.3646:0.2863:0.3491:0.0	.	261;273	A6NI73-2;A6NI73	.;LIRA5_HUMAN	D	273;261	ENSP00000301219:G273D;ENSP00000302948:G261D	ENSP00000301219:G273D	G	-	2	0	LILRA5	59510592	0.000000	0.05858	0.000000	0.03702	0.373000	0.29922	-1.974000	0.01499	-0.773000	0.04596	0.404000	0.27445	GGC		0.537	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		45	75	0	0	0	1	0	45	75				
CREB5	9586	broad.mit.edu	37	7	28609991	28609991	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr7:28609991G>A	ENST00000357727.2	+	5	690	c.300G>A	c.(298-300)tcG>tcA	p.S100S	CREB5_ENST00000396300.2_Silent_p.S93S|CREB5_ENST00000396299.2_Silent_p.S67S|CREB5_ENST00000409603.1_Silent_p.S67S	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	100					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGAATATCTCGATGCATAATG	0.517																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(298-300)tcG>tcA		cAMP responsive element binding protein 5							78.0	75.0	76.0					7																	28609991		2203	4300	6503	SO:0001819	synonymous_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28609991G>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.300G>A	7.37:g.28609991G>A						CREB5_ENST00000396299.2_Silent_p.S67S|CREB5_ENST00000409603.1_Silent_p.S67S|CREB5_ENST00000396300.2_Silent_p.S93S	p.S100S	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN			5	690	+			100					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	c.300G>A	CCDS5417.1																																																																																				0.517	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		6	115	0	0	0	1	0	6	115				
RFTN1	23180	broad.mit.edu	37	3	16450954	16450954	+	Missense_Mutation	SNP	G	G	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:16450954G>C	ENST00000334133.4	-	4	641	c.369C>G	c.(367-369)atC>atG	p.I123M	RFTN1_ENST00000432519.1_Missense_Mutation_p.I87M	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	123					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTAATTCCAAGATGTAGCCTT	0.418																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(367-369)atC>atG		raftlin, lipid raft linker 1							151.0	142.0	145.0					3																	16450954		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16450954G>C	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.369C>G	3.37:g.16450954G>C	ENSP00000334153:p.Ile123Met					RFTN1_ENST00000432519.1_Missense_Mutation_p.I87M	p.I123M	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			4	641	-			123					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.369C>G	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861471	0.32884	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.53	3.72	0.42706	.	1.193380	0.05743	N	0.601759	T	0.41282	0.1152	L	0.57536	1.79	0.24703	N	0.993245	D;D	0.53151	0.958;0.958	P;P	0.51135	0.66;0.584	T	0.12451	-1.0547	10	0.33940	T	0.23	-7.5668	7.6152	0.28154	0.0884:0.1657:0.7459:0.0	.	87;123	G3XAJ6;Q14699	.;RFTN1_HUMAN	M	87;123;123;123;123	ENSP00000403926:I87M;ENSP00000334153:I123M;ENSP00000403997:I123M;ENSP00000409427:I123M;ENSP00000388718:I123M	ENSP00000334153:I123M	I	-	3	3	RFTN1	16425958	1.000000	0.71417	0.883000	0.34634	0.208000	0.24298	1.288000	0.33296	0.682000	0.31407	-0.136000	0.14681	ATC		0.418	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		36	54	0	0	0	1	0	36	54				
STT3B	201595	broad.mit.edu	37	3	31674465	31674465	+	Silent	SNP	T	T	C			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:31674465T>C	ENST00000295770.2	+	15	2435	c.2226T>C	c.(2224-2226)cgT>cgC	p.R742R		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	742					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						ACCGAACACGTAATGCTGAGA	0.368																																						ENST00000295770.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2224-2226)cgT>cgC		STT3B, subunit of the oligosaccharyltransferase complex (catalytic)							133.0	134.0	134.0					3																	31674465		2203	4300	6503	SO:0001819	synonymous_variant	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31674465T>C	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.2226T>C	3.37:g.31674465T>C							p.R742R	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN			15	2435	+			742					Q96JZ4|Q96KY7	Silent	SNP	ENST00000295770.2	37	c.2226T>C	CCDS2650.1																																																																																				0.368	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		6	148	0	0	0	1	0	6	148				
PARD6G	84552	broad.mit.edu	37	18	77918383	77918383	+	Silent	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr18:77918383G>A	ENST00000353265.3	-	3	599	c.402C>T	c.(400-402)atC>atT	p.I134I	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	134	Interaction with PARD3 and CDC42. {ECO:0000250}.|Pseudo-CRIB.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCGGGAGGCCGATGTCCAGGT	0.731																																						ENST00000353265.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(400-402)atC>atT		par-6 family cell polarity regulator gamma							21.0	18.0	19.0					18																	77918383		2181	4279	6460	SO:0001819	synonymous_variant	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77918383G>A		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.402C>T	18.37:g.77918383G>A						AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron	p.I134I	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	3	599	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	134			Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.		A8QM57	Silent	SNP	ENST00000353265.3	37	c.402C>T	CCDS12022.1																																																																																				0.731	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		6	6	0	0	0	1	0	6	6				
ARID1A	8289	broad.mit.edu	37	1	27087901	27087902	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:27087901_27087902insGT	ENST00000324856.7	+	6	2559_2560	c.2188_2189insGT	c.(2188-2190)agtfs	p.S730fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.S730fs|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.S347fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	730					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R727fs*12(1)|p.P728fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCGGCCACCCAGTGGCCAGTCG	0.53			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	2	Deletion - Frameshift(1)|Complex(1)	p.R727fs*12(1)|p.P728fs(1)	ovary(1)|liver(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2188-2190)tggfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27087901_27087902insGT	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2189_2190dupGT	1.37:g.27087902_27087903dupGT	ENSP00000320485:p.Ser730fs					ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.W730fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.W347fs	p.W730fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	6	2559_2560	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	730					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.2188_2189insGT	CCDS285.1																																																																																				0.530	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		24	63						24	63	---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200619732	200619732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr1:200619732G>A	ENST00000331314.6	-	5	1348	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	DDX59_ENST00000447706.2_Nonsense_Mutation_p.Q379*|DDX59_ENST00000367348.3_Nonsense_Mutation_p.Q379*	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	379	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAAATGGTCTGACAATCATTA	0.363																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1135-1137)Cag>Tag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							95.0	88.0	90.0					1																	200619732		2203	4300	6503	SO:0001587	stop_gained	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200619732G>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1135C>T	1.37:g.200619732G>A	ENSP00000330460:p.Gln379*					DDX59_ENST00000367348.3_Nonsense_Mutation_p.Q379*|DDX59_ENST00000331314.6_Nonsense_Mutation_p.Q379*	p.Q379*			Q5T1V6	DDX59_HUMAN			5	1286	-			379			Helicase ATP-binding.		Q6PJL2|Q8IVW3|Q9H0W3	Nonsense_Mutation	SNP	ENST00000331314.6	37	c.1135C>T	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	38	7.138129	0.98088	.	.	ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000331314;ENST00000433235;ENST00000453944	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.1555	19.9402	0.97155	0.0:0.0:1.0:0.0	.	.	.	.	X	379;17;379;379;22;22	.	ENSP00000330460:Q379X	Q	-	1	0	DDX59	198886355	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.792000	0.99085	2.720000	0.93068	0.573000	0.79308	CAG		0.363	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		40	55	0	0	0	1	0	40	55				
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		7	105						7	105	---	---	---	---
LINC01158	100506421	broad.mit.edu	37	2	105440927	105440929	+	RNA	DEL	TGG	TGG	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr2:105440927_105440929delTGG	ENST00000458253.1	-	0	147				AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000443988.1_RNA																							gtggtggtgatggtggtggtggt	0.591																																						ENST00000458253.1																			0																																																			100506421							g.chr2:105440927_105440929delTGG																													2.37:g.105440936_105440938delTGG						AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA								0	147	-									RNA	DEL	ENST00000458253.1	37																																																																																						0.591	AC018730.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000329327.1			5	7						5	7	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	240						9	240	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(235-237)ccfs		adenosine deaminase domain containing 1 (testis-specific)							63.0	70.0	68.0					4																	123302211		2202	4300	6502	SO:0001589	frameshift_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302211delA	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.237delA	4.37:g.123302211delA	ENSP00000296513:p.Pro79fs					ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR	p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	422	+			79					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	ENST00000296513.2	37	c.237delA	CCDS34058.1																																																																																				0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		7	110						7	110	---	---	---	---
ETV7	51513	broad.mit.edu	37	6	36341235	36341235	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr6:36341235delG	ENST00000340181.4	-	4	669	c.428delC	c.(427-429)ccgfs	p.P143fs	ETV7_ENST00000373737.4_Frame_Shift_Del_p.P143fs|ETV7_ENST00000339796.5_Frame_Shift_Del_p.P143fs|ETV7_ENST00000538992.1_5'UTR|ETV7_ENST00000373738.1_Frame_Shift_Del_p.P88fs	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	143					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTCACCTTCCGGGGGGACTGG	0.597																																						ENST00000373738.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(262-264)cgfs		ets variant 7							24.0	22.0	23.0					6																	36341235		2203	4299	6502	SO:0001589	frameshift_variant	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36341235delG	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.428delC	6.37:g.36341235delG	ENSP00000341843:p.Pro143fs					ETV7_ENST00000339796.5_Frame_Shift_Del_p.P143fs|ETV7_ENST00000340181.4_Frame_Shift_Del_p.P143fs|ETV7_ENST00000538992.1_5'UTR|ETV7_ENST00000373737.4_Frame_Shift_Del_p.P143fs	p.P88fs	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN			3	1108	-			143			PNT.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Frame_Shift_Del	DEL	ENST00000340181.4	37	c.263delC	CCDS4819.1																																																																																				0.597	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		2	4						2	4	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89403521	89403522	+	RNA	INS	-	-	T	rs566310014|rs370122765	byFrequency	TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr11:89403521_89403522insT	ENST00000532352.1	+	0	908							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTTTGTTTTGTTTTTTTTCAA	0.332													?|TTTTTTTT|TTTTTTTTT|unsure	3	0.000599042	0.0	0.0014	5008	,	,		20450	0.0		0.0	False		,,,				2504	0.002					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B				3,4261		0,3,2129							0.0			57	8,8246		0,8,4119	no	intron	FOLH1B	NM_153696.2		0,11,6248	A1A1,A1R,RR		0.0969,0.0704,0.0879				11,12507						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89403521_89403522insT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89403529_89403529dupT										Q9HBA9	FOH1B_HUMAN			0	908	+									RNA	INS	ENST00000532352.1	37																																																																																						0.332	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		31	40						31	40	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54547341	54547347	+	Frame_Shift_Del	DEL	TGAGGGA	TGAGGGA	-			TCGA-RS-A6TP-01A-12D-A34J-08	TCGA-RS-A6TP-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a866e3eb-84ab-4a03-82a6-1bfef7869e49	dee93deb-7249-4f7a-a59b-d4fa5acc13e6	g.chr18:54547341_54547347delTGAGGGA	ENST00000254442.3	+	21	3682_3688	c.3471_3477delTGAGGGA	c.(3469-3477)cctgagggafs	p.PEG1157fs	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Frame_Shift_Del_p.PEG1124fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1157					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCAAATTCCTGAGGGATTCGGGTTGA	0.411																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3469-3477)ccfs		WD repeat domain 7																																				SO:0001589	frameshift_variant	23335							g.chr18:54547341_54547347delTGAGGGA	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3471_3477delTGAGGGA	18.37:g.54547341_54547347delTGAGGGA	ENSP00000254442:p.Pro1157fs					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Frame_Shift_Del_p.PEG1124fs	p.PEG1157fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3682_3688	+			1157					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Frame_Shift_Del	DEL	ENST00000254442.3	37	c.3471_3477delTGAGGGA	CCDS11962.1																																																																																				0.411	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			17	40						17	40	---	---	---	---
