#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
DNAH3	55567	broad.mit.edu	37	16	21145636	21145636	+	Silent	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:21145636C>T	ENST00000261383.3	-	7	1025	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	DNAH3_ENST00000415178.1_Silent_p.E342E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	342	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTGCAGATGCTCCTCGTTCC	0.517																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(1024-1026)gaG>gaA		dynein, axonemal, heavy chain 3							113.0	106.0	108.0					16																	21145636		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21145636C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1026G>A	16.37:g.21145636C>T						DNAH3_ENST00000415178.1_Silent_p.E342E	p.E342E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	7	1025	-			342			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.1026G>A	CCDS10594.1																																																																																				0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		49	75	0	0	0	1	0	49	75				
RNF19B	127544	broad.mit.edu	37	1	33411115	33411115	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:33411115C>T	ENST00000373456.7	-	5	1263	c.1264G>A	c.(1264-1266)Ggt>Agt	p.G422S	RNF19B_ENST00000235150.4_Splice_Site_p.G421S|RNF19B_ENST00000356990.5_Splice_Site_p.G421S	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	422					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G231C(1)|p.G421C(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTAGCTTACCAACACTAACT	0.463																																						ENST00000356990.5																			2	Substitution - Missense(2)	p.G231C(1)|p.G421C(1)	endometrium(2)	endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.e5+1		ring finger protein 19B							226.0	191.0	203.0					1																	33411115		2203	4300	6503	SO:0001630	splice_region_variant	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33411115C>T	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1264+1G>A	1.37:g.33411115C>T						RNF19B_ENST00000235150.4_Splice_Site_p.G421_splice|RNF19B_ENST00000373456.7_Splice_Site_p.G422_splice	p.G421_splice	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN			5	1260	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	422					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Splice_Site	SNP	ENST00000373456.7	37	c.1261_splice	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	36	5.630082	0.96671	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.48522	0.81;1.02;1.03	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.60078	-0.7333	9	.	.	.	.	19.0119	0.92877	0.0:1.0:0.0:0.0	.	421;422;421	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	S	422;421;421;320	ENSP00000362555:G422S;ENSP00000349482:G421S;ENSP00000235150:G421S	.	G	-	1	0	RNF19B	33183702	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.815000	0.86186	2.578000	0.87016	0.461000	0.40582	GGT		0.463	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341	Missense_Mutation	12	13	0	0	0	1	0	12	13				
WDR81	124997	broad.mit.edu	37	17	1636832	1636832	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:1636832C>T	ENST00000409644.1	+	7	4501	c.4501C>T	c.(4501-4503)Cgg>Tgg	p.R1501W	WDR81_ENST00000446363.1_Missense_Mutation_p.R140W|WDR81_ENST00000309182.5_Missense_Mutation_p.R450W|WDR81_ENST00000419248.1_Missense_Mutation_p.R274W|WDR81_ENST00000437219.2_Missense_Mutation_p.R298W|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.R132W	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1501					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGACATCATCCGGAAAATCAT	0.612																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4501-4503)Cgg>Tgg		WD repeat domain 81							71.0	80.0	77.0					17																	1636832		2167	4242	6409	SO:0001583	missense	124997							g.chr17:1636832C>T	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4501C>T	17.37:g.1636832C>T	ENSP00000386609:p.Arg1501Trp					RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.R274W|WDR81_ENST00000309182.5_Missense_Mutation_p.R450W|WDR81_ENST00000446363.1_Missense_Mutation_p.R140W|WDR81_ENST00000545662.1_Missense_Mutation_p.R132W|WDR81_ENST00000437219.2_Missense_Mutation_p.R298W	p.R1501W	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	4501	+			274					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.4501C>T	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231458	0.39399	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.56	2.47	0.30058	.	0.475439	0.23439	N	0.048175	T	0.70518	0.3233	L	0.43152	1.355	0.44123	D	0.996906	B;B;B;B	0.11235	0.004;0.004;0.004;0.004	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.62969	-0.6741	10	0.59425	D	0.04	.	6.8751	0.24143	0.0:0.5838:0.2697:0.1464	.	132;298;628;450	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	W	298;450;140;274;86;1501;252;132	ENSP00000391074:R298W;ENSP00000312074:R450W;ENSP00000401560:R140W;ENSP00000407845:R274W;ENSP00000395198:R86W;ENSP00000386609:R1501W;ENSP00000442726:R132W	ENSP00000312074:R450W	R	+	1	2	WDR81	1583582	0.999000	0.42202	0.930000	0.37139	0.992000	0.81027	1.112000	0.31172	0.305000	0.22832	-0.137000	0.14449	CGG		0.612	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		52	94	0	0	0	1	0	52	94				
ZMYND12	84217	broad.mit.edu	37	1	42905687	42905687	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:42905687C>T	ENST00000372565.3	-	4	703	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	ZMYND12_ENST00000433602.2_Missense_Mutation_p.R35Q	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	145						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGAACGATTCGGCCCAGACC	0.433																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(433-435)cGa>cAa		zinc finger, MYND-type containing 12							87.0	85.0	86.0					1																	42905687		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42905687C>T	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.434G>A	1.37:g.42905687C>T	ENSP00000361646:p.Arg145Gln					ZMYND12_ENST00000433602.2_Missense_Mutation_p.R35Q	p.R145Q	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			4	703	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	145					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.434G>A	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825100	0.32237	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	T;T	0.65732	-0.17;-0.13	6.01	-0.544	0.11847	Tetratricopeptide-like helical (1);	0.808617	0.11759	N	0.532309	T	0.45538	0.1347	L	0.28458	0.855	0.09310	N	0.999991	B;B	0.23316	0.083;0.008	B;B	0.14578	0.011;0.002	T	0.26430	-1.0103	10	0.31617	T	0.26	-1.1491	10.1467	0.42769	0.0:0.4207:0.0:0.5793	.	35;145	E9PFV0;Q9H0C1	.;ZMY12_HUMAN	Q	145;35	ENSP00000361646:R145Q;ENSP00000398340:R35Q	ENSP00000361646:R145Q	R	-	2	0	ZMYND12	42678274	0.033000	0.19621	0.395000	0.26283	0.970000	0.65996	-0.041000	0.12084	-0.012000	0.14223	0.650000	0.86243	CGA		0.433	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		29	13	0	0	0	1	0	29	13				
HRNR	388697	broad.mit.edu	37	1	152188128	152188128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:152188128G>A	ENST00000368801.2	-	3	6052	c.5977C>T	c.(5977-5979)Cga>Tga	p.R1993*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1993					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAGACTCTCGGTGACCTAAG	0.572																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(5977-5979)Cga>Tga		hornerin							15.0	23.0	21.0					1																	152188128		1541	3326	4867	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188128G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5977C>T	1.37:g.152188128G>A	ENSP00000357791:p.Arg1993*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1993*	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6052	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1993					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.5977C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	43	10.089199	0.99333	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.67	-1.87	0.07737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	4.5034	0.11876	0.3913:0.0:0.4576:0.1511	.	.	.	.	X	1993	.	ENSP00000357791:R1993X	R	-	1	2	HRNR	150454752	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.133000	0.10451	-0.233000	0.09797	0.505000	0.49811	CGA		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		8	484	0	0	0	1	0	8	484				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	33	0	0	0	1	0	3	33				
CTNNB1	1499	broad.mit.edu	37	3	41268826	41268826	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr3:41268826C>T	ENST00000349496.5	+	7	1344	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	CTNNB1_ENST00000396183.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P348L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P355L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	355					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AGTAATAAGCCGGCTATTGTA	0.378		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1063-1065)cCg>cTg		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						104.0	100.0	101.0					3																	41268826		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41268826C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1064C>T	3.37:g.41268826C>T	ENSP00000344456:p.Pro355Leu					CTNNB1_ENST00000396183.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P355L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P348L	p.P355L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	7	1344	+			355					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1064C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727589	0.69074	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.5	4.63	0.57726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.86178	2.8	0.80722	D	1	B;P	0.42692	0.262;0.787	B;B	0.39419	0.084;0.299	T	0.74144	-0.3760	10	0.45353	T	0.12	-7.5661	14.2531	0.66033	0.0:0.9281:0.0:0.0718	.	283;355	B4DSW9;P35222	.;CTNB1_HUMAN	L	355;355;355;348;355	ENSP00000385604:P355L;ENSP00000379486:P355L;ENSP00000344456:P355L;ENSP00000411226:P348L;ENSP00000379488:P355L	ENSP00000344456:P355L	P	+	2	0	CTNNB1	41243830	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	7.818000	0.86416	1.335000	0.45486	0.591000	0.81541	CCG		0.378	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		24	35	0	0	0	1	0	24	35				
GSTA1	2938	broad.mit.edu	37	6	52656723	52656723	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr6:52656723C>T	ENST00000334575.5	-	7	757	c.602G>A	c.(601-603)gGc>gAc	p.G201D	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	201	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	CCTTGGGCTGCCAGGCTGTAG	0.468																																						ENST00000334575.5																			0				large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(601-603)gGc>gAc		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						130.0	129.0	129.0					6																	52656723		2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52656723C>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.602G>A	6.37:g.52656723C>T	ENSP00000335620:p.Gly201Asp					GSTA1_ENST00000493331.1_5'UTR	p.G201D	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN			7	757	-	Lung NSC(77;0.118)		201			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.602G>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.076867	0.36662	.	.	ENSG00000243955	ENST00000334575	T	0.11712	2.75	2.44	2.44	0.29823	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.070062	0.56097	D	0.000035	T	0.21881	0.0527	M	0.78916	2.43	0.43489	D	0.995726	D	0.89917	1.0	D	0.91635	0.999	T	0.04767	-1.0928	10	0.72032	D	0.01	.	12.6394	0.56700	0.0:1.0:0.0:0.0	.	201	P08263	GSTA1_HUMAN	D	201	ENSP00000335620:G201D	ENSP00000335620:G201D	G	-	2	0	GSTA1	52764682	1.000000	0.71417	0.997000	0.53966	0.139000	0.21198	4.870000	0.63035	1.048000	0.40298	0.205000	0.17691	GGC		0.468	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			41	72	0	0	0	1	0	41	72				
CHRNB1	1140	broad.mit.edu	37	17	7350230	7350230	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:7350230G>C	ENST00000306071.2	+	4	389	c.322G>C	c.(322-324)Gtg>Ctg	p.V108L	CHRNB1_ENST00000536404.2_Missense_Mutation_p.V36L|RP11-104H15.7_ENST00000575310.1_RNA|CHRNB1_ENST00000576360.1_Missense_Mutation_p.V36L|RP11-104H15.10_ENST00000575331.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	108					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GGCGGAATCCGTGTGGCTCCC	0.677																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(322-324)Gtg>Ctg		cholinergic receptor, nicotinic, beta 1 (muscle)							32.0	29.0	30.0					17																	7350230		2203	4300	6503	SO:0001583	missense	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7350230G>C	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.322G>C	17.37:g.7350230G>C	ENSP00000304290:p.Val108Leu					CHRNB1_ENST00000576360.1_Missense_Mutation_p.V36L|CHRNB1_ENST00000536404.2_Missense_Mutation_p.V36L	p.V108L	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			4	389	+		Prostate(122;0.157)	108					B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	37	c.322G>C	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203296	0.58234	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.78246	-1.16;-1.16	5.05	5.05	0.67936	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	T	0.75302	0.3831	L	0.41079	1.255	0.80722	D	1	P	0.47350	0.894	P	0.51055	0.657	T	0.74444	-0.3663	10	0.44086	T	0.13	.	9.326	0.37993	0.0952:0.0:0.9048:0.0	.	108	P11230	ACHB_HUMAN	L	108;36	ENSP00000304290:V108L;ENSP00000439209:V36L	ENSP00000304290:V108L	V	+	1	0	CHRNB1	7290954	1.000000	0.71417	0.938000	0.37757	0.754000	0.42855	3.295000	0.51794	2.632000	0.89209	0.491000	0.48974	GTG		0.677	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			4	14	0	0	0	1	0	4	14				
MYO3A	53904	broad.mit.edu	37	10	26377303	26377303	+	Silent	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr10:26377303C>T	ENST00000265944.5	+	15	1697	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	MYO3A_ENST00000543632.1_Silent_p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAATATCTCCTGGAAAAATC	0.343																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1531-1533)Ctg>Ttg		myosin IIIA							62.0	64.0	64.0					10																	26377303		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377303C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1531C>T	10.37:g.26377303C>T						MYO3A_ENST00000543632.1_Silent_p.L511L	p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			15	1697	+			511			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.1531C>T	CCDS7148.1																																																																																				0.343	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		25	36	0	0	0	1	0	25	36				
HENMT1	113802	broad.mit.edu	37	1	109193008	109193008	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:109193008G>A	ENST00000370032.5	-	7	1001	c.581C>T	c.(580-582)gCt>gTt	p.A194V	HENMT1_ENST00000402983.1_Missense_Mutation_p.A194V|HENMT1_ENST00000370031.1_Missense_Mutation_p.A194V|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	194					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						CACATATAAAGCCCTGAAACC	0.413																																						ENST00000370032.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						c.(580-582)gCt>gTt		HEN1 methyltransferase homolog 1 (Arabidopsis)							67.0	64.0	65.0					1																	109193008		2203	4300	6503	SO:0001583	missense	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109193008G>A		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.581C>T	1.37:g.109193008G>A	ENSP00000359049:p.Ala194Val					HENMT1_ENST00000370031.1_Missense_Mutation_p.A194V|HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000402983.1_Missense_Mutation_p.A194V	p.A194V	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN			7	1001	-			194					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Missense_Mutation	SNP	ENST00000370032.5	37	c.581C>T	CCDS787.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885067	0.72410	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	T;T;T;T	0.36699	1.61;1.71;1.61;1.24	5.39	5.39	0.77823	.	0.057160	0.64402	D	0.000001	T	0.56077	0.1961	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59364	-0.7468	10	0.62326	D	0.03	.	18.7353	0.91751	0.0:0.0:1.0:0.0	.	194	Q5T8I9	HENMT_HUMAN	V	194	ENSP00000385655:A194V;ENSP00000359048:A194V;ENSP00000359049:A194V;ENSP00000403953:A194V	ENSP00000359048:A194V	A	-	2	0	HENMT1	108994531	1.000000	0.71417	0.990000	0.47175	0.182000	0.23217	7.942000	0.87708	2.529000	0.85273	0.655000	0.94253	GCT		0.413	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		21	11	0	0	0	1	0	21	11				
NLRC4	58484	broad.mit.edu	37	2	32476004	32476004	+	Missense_Mutation	SNP	C	C	T	rs368415170		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:32476004C>T	ENST00000404025.2	-	5	1417	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	NLRC4_ENST00000402280.1_Missense_Mutation_p.R310Q|NLRC4_ENST00000360906.5_Missense_Mutation_p.R310Q|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	310	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAGCACTTCTCGGATGAGAGC	0.532																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(928-930)cGa>cAa		NLR family, CARD domain containing 4		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	84.0	76.0	79.0		929,929,929	-3.4	0.1	2		79	1,8599		0,1,4299	no	missense,missense,missense	NLRC4	NM_001199138.1,NM_001199139.1,NM_021209.4	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	310/1025,310/1025,310/1025	32476004	1,13005	2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476004C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.929G>A	2.37:g.32476004C>T	ENSP00000385090:p.Arg310Gln					NLRC4_ENST00000360906.5_Missense_Mutation_p.R310Q|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R310Q	p.R310Q			Q9NPP4	NLRC4_HUMAN			5	1417	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		310			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.929G>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	3.596	-0.082606	0.07141	0.0	1.16E-4	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.81078	-1.45;-1.45;-1.45	3.26	-3.42	0.04825	.	1.595120	0.03990	N	0.294641	T	0.69433	0.3110	L	0.42245	1.32	0.26558	N	0.973793	B	0.16166	0.016	B	0.11329	0.006	T	0.50617	-0.8807	9	0.11794	T	0.64	-0.1601	6.8942	0.24247	0.0:0.3301:0.1268:0.543	.	310	Q9NPP4	NLRC4_HUMAN	Q	310	ENSP00000354159:R310Q;ENSP00000385428:R310Q;ENSP00000385090:R310Q	ENSP00000354159:R310Q	R	-	2	0	NLRC4	32329508	0.000000	0.05858	0.077000	0.20336	0.045000	0.14185	-0.855000	0.04295	-0.764000	0.04651	0.536000	0.68110	CGA		0.532	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		4	66	0	0	0	1	0	4	66				
OAS3	4940	broad.mit.edu	37	12	113403651	113403651	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr12:113403651C>T	ENST00000228928.7	+	12	2685	c.2506C>T	c.(2506-2508)Cgg>Tgg	p.R836W	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	836	OAS domain 3.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGGCAACAAGCGGGCCGAGAT	0.592																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(2506-2508)Cgg>Tgg		2'-5'-oligoadenylate synthetase 3, 100kDa							32.0	36.0	35.0					12																	113403651		2020	4173	6193	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113403651C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.2506C>T	12.37:g.113403651C>T	ENSP00000228928:p.Arg836Trp					RP1-71H24.1_ENST00000552784.1_RNA	p.R836W	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			12	2685	+			836			OAS domain 3.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.2506C>T	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066560	0.55539	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.27256	1.68	5.16	0.922	0.19408	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	0.000000	0.31404	U	0.007719	T	0.50803	0.1637	M	0.90814	3.15	0.27156	N	0.961284	D	0.89917	1.0	D	0.87578	0.998	T	0.41520	-0.9504	10	0.87932	D	0	.	6.4786	0.22049	0.4571:0.4567:0.0:0.0861	.	836	Q9Y6K5	OAS3_HUMAN	W	836;835	ENSP00000228928:R836W	ENSP00000228928:R836W	R	+	1	2	OAS3	111888034	0.003000	0.15002	0.245000	0.24217	0.664000	0.39144	0.490000	0.22403	0.158000	0.19367	0.655000	0.94253	CGG		0.592	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			8	11	0	0	0	1	0	8	11				
INTS9	55756	broad.mit.edu	37	8	28628505	28628505	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:28628505C>A	ENST00000521022.1	-	15	1737	c.1656G>T	c.(1654-1656)ttG>ttT	p.L552F	INTS9_ENST00000521777.1_Missense_Mutation_p.L528F|INTS9_ENST00000397363.4_Missense_Mutation_p.L446F|INTS9_ENST00000416984.2_Missense_Mutation_p.L531F	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	552					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CTACCTGAAGCAAGTGCTTGT	0.532																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1591-1593)ttG>ttT		integrator complex subunit 9							65.0	58.0	60.0					8																	28628505		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28628505C>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1656G>T	8.37:g.28628505C>A	ENSP00000429065:p.Leu552Phe					INTS9_ENST00000521777.1_Missense_Mutation_p.L528F|INTS9_ENST00000521022.1_Missense_Mutation_p.L552F|INTS9_ENST00000397363.4_Missense_Mutation_p.L446F	p.L531F	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	14	1952	-		Ovarian(32;0.0439)	552					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.1593G>T	CCDS34873.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.941|9.941	1.217464|1.217464	0.22373|0.22373	.|.	.|.	ENSG00000104299|ENSG00000104299	ENST00000517383|ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	.|T;T;T;T	.|0.46063	.|0.89;0.88;0.89;0.88	5.29|5.29	-3.11|-3.11	0.05299|0.05299	.|.	.|0.284133	.|0.35585	.|N	.|0.003117	T|T	0.23965|0.23965	0.0580|0.0580	N|N	0.19112|0.19112	0.55|0.55	0.25348|0.25348	N|N	0.98889|0.98889	.|B;B	.|0.15141	.|0.012;0.006	.|B;B	.|0.21708	.|0.027;0.036	T|T	0.18366|0.18366	-1.0339|-1.0339	5|10	.|0.17832	.|T	.|0.49	-3.9716|-3.9716	13.8138|13.8138	0.63278|0.63278	0.1704:0.7072:0.1225:0.0|0.1704:0.7072:0.1225:0.0	.|.	.|531;552	.|B7Z6M5;Q9NV88	.|.;INT9_HUMAN	F|F	26|552;531;396;528;446	.|ENSP00000429065:L552F;ENSP00000398208:L531F;ENSP00000430943:L528F;ENSP00000380520:L446F	.|ENSP00000380520:L446F	C|L	-|-	2|3	0|2	INTS9|INTS9	28684424|28684424	0.535000|0.535000	0.26370|0.26370	0.780000|0.780000	0.31762|0.31762	0.464000|0.464000	0.32679|0.32679	-0.113000|-0.113000	0.10774|0.10774	-0.902000|-0.902000	0.03886|0.03886	-1.028000|-1.028000	0.02416|0.02416	TGC|TTG		0.532	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		3	26	1	0	1	1	1	3	26				
ATP8A1	10396	broad.mit.edu	37	4	42524203	42524203	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:42524203C>T	ENST00000381668.5	-	22	2152	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E626K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	641					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAACTCTCTTCGAGTTTGAGT	0.428																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1921-1923)Gaa>Aaa		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						84.0	69.0	74.0					4																	42524203		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42524203C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1921G>A	4.37:g.42524203C>T	ENSP00000371084:p.Glu641Lys					ATP8A1_ENST00000264449.10_Missense_Mutation_p.E626K	p.E641K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			22	2152	-			641					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1921G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898270	0.72639	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.80994	-1.44;-1.44	5.54	5.54	0.83059	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.91754	0.7392	M	0.89904	3.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.958	D	0.92367	0.5902	10	0.59425	D	0.04	.	19.8487	0.96730	0.0:1.0:0.0:0.0	.	626;641	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	K	641;626	ENSP00000371084:E641K;ENSP00000264449:E626K	ENSP00000264449:E626K	E	-	1	0	ATP8A1	42218960	1.000000	0.71417	0.722000	0.30670	0.049000	0.14656	6.864000	0.75494	2.748000	0.94277	0.650000	0.86243	GAA		0.428	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		3	39	0	0	0	1	0	3	39				
PPP2R2A	5520	broad.mit.edu	37	8	26196411	26196411	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:26196411A>G	ENST00000380737.3	+	3	417	c.88A>G	c.(88-90)Ata>Gta	p.I30V	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.I40V|PPP2R2A_ENST00000523473.1_3'UTR	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	30					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TACAGCAGATATAATTTCTAC	0.353																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(88-90)Ata>Gta		protein phosphatase 2, regulatory subunit B, alpha							65.0	74.0	71.0					8																	26196411		2203	4299	6502	SO:0001583	missense	5520							g.chr8:26196411A>G	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.88A>G	8.37:g.26196411A>G	ENSP00000370113:p.Ile30Val					PPP2R2A_ENST00000523473.1_3'UTR|PPP2R2A_ENST00000315985.7_Missense_Mutation_p.I40V	p.I30V	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	3	417	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.88A>G	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.018909	0.35606	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.28255	1.62;1.62	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.32645	0.0836	M	0.64630	1.985	0.51482	D	0.999925	B;B	0.16603	0.004;0.018	B;B	0.17722	0.015;0.019	T	0.09465	-1.0673	10	0.38643	T	0.18	-29.8549	13.691	0.62547	1.0:0.0:0.0:0.0	.	40;30	B4E1T7;P63151	.;2ABA_HUMAN	V	30;40	ENSP00000370113:I30V;ENSP00000325074:I40V	ENSP00000325074:I40V	I	+	1	0	PPP2R2A	26252328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.912000	0.75753	2.067000	0.61834	0.482000	0.46254	ATA		0.353	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		21	34	0	0	0	1	0	21	34				
C3	718	broad.mit.edu	37	19	6697472	6697472	+	Silent	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:6697472C>T	ENST00000245907.6	-	21	2771	c.2679G>A	c.(2677-2679)tcG>tcA	p.S893S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	893					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GAACGGACAACGAGGACTTGG	0.572																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2677-2679)tcG>tcA		complement component 3							126.0	100.0	109.0					19																	6697472		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6697472C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2679G>A	19.37:g.6697472C>T							p.S893S	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	21	2771	-			893					A7E236	Silent	SNP	ENST00000245907.6	37	c.2679G>A	CCDS32883.1																																																																																				0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		6	52	0	0	0	1	0	6	52				
TMC5	79838	broad.mit.edu	37	16	19505646	19505646	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:19505646A>C	ENST00000396229.2	+	20	3638	c.2889A>C	c.(2887-2889)aaA>aaC	p.K963N	TMC5_ENST00000564959.1_Missense_Mutation_p.K646N|TMC5_ENST00000219821.5_Missense_Mutation_p.K717N|TMC5_ENST00000561503.1_Missense_Mutation_p.K604N|TMC5_ENST00000542583.2_Missense_Mutation_p.K963N|TMC5_ENST00000541464.1_Missense_Mutation_p.K911N|TMC5_ENST00000381414.4_Missense_Mutation_p.K905N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	963					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGAGAAGAAAGCAAACCCCA	0.458																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2887-2889)aaA>aaC		transmembrane channel-like 5							117.0	123.0	121.0					16																	19505646		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19505646A>C	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2889A>C	16.37:g.19505646A>C	ENSP00000379531:p.Lys963Asn					TMC5_ENST00000564959.1_Missense_Mutation_p.K646N|TMC5_ENST00000561503.1_Missense_Mutation_p.K604N|TMC5_ENST00000542583.2_Missense_Mutation_p.K963N|TMC5_ENST00000541464.1_Missense_Mutation_p.K911N|TMC5_ENST00000381414.4_Missense_Mutation_p.K905N|TMC5_ENST00000219821.5_Missense_Mutation_p.K717N	p.K963N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			20	3638	+			963					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2889A>C	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.264954	0.23136	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.71341	-0.35;-0.19;-0.45;-0.45;-0.56	5.57	3.34	0.38264	.	1.511710	0.03720	N	0.251722	T	0.63546	0.2520	L	0.44542	1.39	0.09310	N	1	P;B;P;P;B	0.39665	0.496;0.029;0.682;0.554;0.077	B;B;B;B;B	0.38755	0.276;0.019;0.281;0.146;0.047	T	0.50566	-0.8813	10	0.22109	T	0.4	-6.8012	6.4931	0.22127	0.8136:0.0:0.1864:0.0	.	911;646;717;963;905	F5GYU8;E7EU57;Q6UXY8-3;Q6UXY8;Q6UXY8-2	.;.;.;TMC5_HUMAN;.	N	911;905;963;963;717;646	ENSP00000441227:K911N;ENSP00000370822:K905N;ENSP00000379531:K963N;ENSP00000446274:K963N;ENSP00000219821:K717N	ENSP00000219821:K717N	K	+	3	2	TMC5	19413147	0.863000	0.29885	0.940000	0.37924	0.046000	0.14306	0.939000	0.28978	1.059000	0.40554	0.533000	0.62120	AAA		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		8	100	0	0	0	1	0	8	100				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	46	0	0	0	1	0	5	46				
KEL	3792	broad.mit.edu	37	7	142639988	142639988	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:142639988C>T	ENST00000355265.2	-	17	2389	c.1915G>A	c.(1915-1917)Gtt>Att	p.V639I		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	639					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGCCCCCCAACGTCTGCAGCA	0.507																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1915-1917)Gtt>Att		Kell blood group, metallo-endopeptidase							104.0	95.0	98.0					7																	142639988		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142639988C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1915G>A	7.37:g.142639988C>T	ENSP00000347409:p.Val639Ile						p.V639I	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			17	2389	-	Melanoma(164;0.059)		639					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1915G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	0.682	-0.797841	0.02862	.	.	ENSG00000197993	ENST00000355265	D	0.90900	-2.75	4.61	-0.85	0.10720	Peptidase M13, neprilysin, C-terminal (2);	1.710450	0.03316	N	0.191216	T	0.76026	0.3930	N	0.01640	-0.785	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65747	-0.6093	10	0.34782	T	0.22	-4.6215	7.8279	0.29326	0.0:0.4655:0.0:0.5345	.	639	P23276	KELL_HUMAN	I	639	ENSP00000347409:V639I	ENSP00000347409:V639I	V	-	1	0	KEL	142350110	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-0.315000	0.08703	0.655000	0.94253	GTT		0.507	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		14	71	0	0	0	1	0	14	71				
PAK6	56924	broad.mit.edu	37	15	40564858	40564858	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr15:40564858G>A	ENST00000542403.2	+	4	1403	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PAK6_ENST00000260404.4_Missense_Mutation_p.R431H|PAK6_ENST00000441369.1_Missense_Mutation_p.R431H|PAK6_ENST00000560346.1_Missense_Mutation_p.R431H|PAK6_ENST00000455577.2_Missense_Mutation_p.R431H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.R431H	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	431	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CACTCGGGCCGCCAGGTGGCC	0.662																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1291-1293)cGc>cAc		p21 protein (Cdc42/Rac)-activated kinase 6							21.0	23.0	22.0					15																	40564858		2203	4299	6502	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40564858G>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1292G>A	15.37:g.40564858G>A	ENSP00000439597:p.Arg431His					PAK6_ENST00000560346.1_Missense_Mutation_p.R431H|PAK6_ENST00000260404.4_Missense_Mutation_p.R431H|PAK6_ENST00000453867.1_Missense_Mutation_p.R431H|PAK6_ENST00000542403.2_Missense_Mutation_p.R431H|PAK6_ENST00000441369.1_Missense_Mutation_p.R431H|RP11-133K1.2_ENST00000558658.1_3'UTR	p.R431H	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	6	2204	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	431			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.1292G>A	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843073	0.71488	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.32	4.39	0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050467	0.85682	D	0.000000	T	0.72020	0.3409	L	0.41415	1.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.75309	-0.3363	10	0.87932	D	0	.	15.2144	0.73254	0.0:0.0:0.8581:0.1419	.	431;431	Q9NQU5;G5E9R2	PAK6_HUMAN;.	H	431	ENSP00000406873:R431H;ENSP00000401153:R431H;ENSP00000409465:R431H;ENSP00000260404:R431H;ENSP00000439597:R431H	ENSP00000260404:R431H	R	+	2	0	PAK6	38352150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.720000	0.68470	1.212000	0.43366	0.655000	0.94253	CGC		0.662	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			11	11	0	0	0	1	0	11	11				
OXGR1	27199	broad.mit.edu	37	13	97639064	97639064	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr13:97639064A>C	ENST00000298440.1	-	4	1193	c.950T>G	c.(949-951)gTg>gGg	p.V317G	OXGR1_ENST00000543457.1_Missense_Mutation_p.V317G	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	317					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TTTGCATCTCACTGTTGAGCA	0.398																																						ENST00000298440.1																			0				NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(949-951)gTg>gGg		oxoglutarate (alpha-ketoglutarate) receptor 1							122.0	120.0	121.0					13																	97639064		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639064A>C	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.950T>G	13.37:g.97639064A>C	ENSP00000298440:p.Val317Gly					OXGR1_ENST00000543457.1_Missense_Mutation_p.V317G	p.V317G	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	1193	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		317					Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.950T>G	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	A	3.638	-0.074118	0.07184	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.38401	1.14;1.14	5.87	3.44	0.39384	.	0.620948	0.15478	N	0.260257	T	0.17959	0.0431	N	0.08118	0	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.12760	-1.0535	10	0.62326	D	0.03	.	5.9337	0.19152	0.6832:0.1368:0.18:0.0	.	317	Q96P68	OXGR1_HUMAN	G	317	ENSP00000298440:V317G;ENSP00000438800:V317G	ENSP00000298440:V317G	V	-	2	0	OXGR1	96437065	0.000000	0.05858	0.666000	0.29783	0.010000	0.07245	0.168000	0.16622	1.136000	0.42199	-0.313000	0.08912	GTG		0.398	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		33	62	0	0	0	1	0	33	62				
TTC30B	150737	broad.mit.edu	37	2	178417025	178417025	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:178417025C>T	ENST00000408939.3	-	1	717	c.467G>A	c.(466-468)gGc>gAc	p.G156D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	156					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GTTGATCTGGCCATCGGTCTC	0.592																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(466-468)gGc>gAc		tetratricopeptide repeat domain 30B							199.0	218.0	211.0					2																	178417025		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178417025C>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.467G>A	2.37:g.178417025C>T	ENSP00000386181:p.Gly156Asp						p.G156D	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	717	-			156					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.467G>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	2.302	-0.359928	0.05138	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.78003	-1.14	4.51	4.51	0.55191	Tetratricopeptide repeat-containing (1);	0.308380	0.41605	D	0.000860	T	0.66567	0.2802	L	0.29908	0.895	0.33713	D	0.615964	B	0.18310	0.027	B	0.25759	0.063	T	0.66925	-0.5800	10	0.17832	T	0.49	.	13.7883	0.63123	0.0:0.7997:0.2003:0.0	.	156	Q8N4P2	TT30B_HUMAN	D	109;156	ENSP00000386181:G156D	ENSP00000386181:G156D	G	-	2	0	TTC30B	178125271	0.948000	0.32251	1.000000	0.80357	0.033000	0.12548	2.597000	0.46214	2.487000	0.83934	0.655000	0.94253	GGC		0.592	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		6	277	0	0	0	1	0	6	277				
GRM8	2918	broad.mit.edu	37	7	126079206	126079206	+	Silent	SNP	T	T	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:126079206T>C	ENST00000339582.2	-	11	3502	c.2694A>G	c.(2692-2694)acA>acG	p.T898T	GRM8_ENST00000444921.2_Silent_p.T898T|GRM8_ENST00000358373.3_3'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	898					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGATATATGTTGTCTTGGTAG	0.308										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2692-2694)acA>acG		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						198.0	198.0	198.0					7																	126079206		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126079206T>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2694A>G	7.37:g.126079206T>C		HNSCC(24;0.065)				GRM8_ENST00000444921.2_Silent_p.T898T|GRM8_ENST00000358373.3_3'UTR	p.T898T			O00222	GRM8_HUMAN			11	3502	-		Prostate(267;0.186)	898					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2694A>G	CCDS5794.1																																																																																				0.308	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			48	65	0	0	0	1	0	48	65				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			25	36	0	0	0	1	0	25	36				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	49	0	0	0	1	0	5	49				
RABEP2	79874	broad.mit.edu	37	16	28925751	28925751	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:28925751T>C	ENST00000358201.4	-	5	1288	c.700A>G	c.(700-702)Atc>Gtc	p.I234V	RABEP2_ENST00000357573.6_Missense_Mutation_p.I234V|RABEP2_ENST00000544477.1_Missense_Mutation_p.I163V|RABEP2_ENST00000561803.1_5'Flank	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	234					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AAGGAGGAGATGGAGGCGCTG	0.682																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(700-702)Atc>Gtc		rabaptin, RAB GTPase binding effector protein 2							23.0	28.0	27.0					16																	28925751		2040	4205	6245	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28925751T>C	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.700A>G	16.37:g.28925751T>C	ENSP00000350934:p.Ile234Val					RABEP2_ENST00000544477.1_Missense_Mutation_p.I163V|RABEP2_ENST00000357573.6_Missense_Mutation_p.I234V	p.I234V	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN			5	1288	-			234						Missense_Mutation	SNP	ENST00000358201.4	37	c.700A>G	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441123	0.43326	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.53857	0.66;0.6;0.71	5.27	4.11	0.48088	.	0.075878	0.53938	D	0.000045	T	0.38799	0.1054	N	0.24115	0.695	0.28153	N	0.929317	P;P;P;P	0.38597	0.506;0.639;0.506;0.506	B;B;B;B	0.38712	0.049;0.28;0.12;0.083	T	0.41520	-0.9504	10	0.59425	D	0.04	-17.5727	10.9887	0.47537	0.0:0.0:0.1562:0.8438	.	163;234;234;234	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	V	234;234;163	ENSP00000350934:I234V;ENSP00000350186:I234V;ENSP00000442798:I163V	ENSP00000350186:I234V	I	-	1	0	RABEP2	28833252	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.302000	0.33459	1.989000	0.58080	0.379000	0.24179	ATC		0.682	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		10	15	0	0	0	1	0	10	15				
LY9	4063	broad.mit.edu	37	1	160788073	160788073	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:160788073A>G	ENST00000263285.6	+	6	1438	c.1408A>G	c.(1408-1410)Atc>Gtc	p.I470V	LY9_ENST00000368040.1_Missense_Mutation_p.I122V|LY9_ENST00000368041.2_Missense_Mutation_p.I340V|LY9_ENST00000368037.5_Missense_Mutation_p.I470V|LY9_ENST00000341032.4_Missense_Mutation_p.I380V|LY9_ENST00000392203.4_Missense_Mutation_p.I380V			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	470					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGCGTTGGGATCTTCAGCTG	0.478																																						ENST00000263285.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1408-1410)Atc>Gtc		lymphocyte antigen 9							291.0	275.0	280.0					1																	160788073		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160788073A>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1408A>G	1.37:g.160788073A>G	ENSP00000263285:p.Ile470Val					LY9_ENST00000368041.2_Missense_Mutation_p.I340V|LY9_ENST00000368035.1_Missense_Mutation_p.I122V|LY9_ENST00000341032.4_Missense_Mutation_p.I380V|LY9_ENST00000368040.1_Missense_Mutation_p.I122V	p.I470V	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	1438	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		470					A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1408A>G	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	A	1.271	-0.613097	0.03690	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036;ENST00000368035	T;T;T;T	0.52526	0.66;1.06;1.06;1.06	3.46	-0.0729	0.13737	.	.	.	.	.	T	0.11623	0.0283	N	0.25890	0.77	0.09310	N	1	B;B;B;B;B;B	0.30146	0.103;0.021;0.056;0.056;0.27;0.103	B;B;B;B;B;B	0.25506	0.031;0.005;0.014;0.014;0.061;0.031	T	0.20571	-1.0271	9	0.31617	T	0.26	-7.2947	5.7143	0.17952	0.6298:0.0:0.3702:0.0	.	122;430;340;380;470;470	Q5VYI1;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	V	470;380;122;470;340;430;282;122	ENSP00000342921:I380V;ENSP00000357019:I122V;ENSP00000263285:I470V;ENSP00000357014:I122V	ENSP00000263285:I470V	I	+	1	0	LY9	159054697	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-0.321000	0.08018	-0.019000	0.14055	-0.266000	0.10368	ATC		0.478	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		5	100	0	0	0	1	0	5	100				
TNKS1BP1	85456	broad.mit.edu	37	11	57087848	57087848	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:57087848C>T	ENST00000532437.1	-	2	744	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A145T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	145	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGGGCAGGGGCCTTCCGTACA	0.647																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(433-435)Gcc>Acc		tankyrase 1 binding protein 1, 182kDa							47.0	56.0	53.0					11																	57087848		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57087848C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.433G>A	11.37:g.57087848C>T	ENSP00000437271:p.Ala145Thr					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A145T	p.A145T			Q9C0C2	TB182_HUMAN			2	744	-		all_epithelial(135;0.21)	145			Pro-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.433G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150054	0.78001	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.37411	1.2;1.2	4.37	4.37	0.52481	.	0.000000	0.33515	N	0.004833	T	0.45094	0.1325	N	0.24115	0.695	0.29812	N	0.83159	D	0.76494	0.999	D	0.72075	0.976	T	0.43893	-0.9363	10	0.56958	D	0.05	-15.5309	14.8571	0.70347	0.0:1.0:0.0:0.0	.	145	Q9C0C2	TB182_HUMAN	T	145	ENSP00000350990:A145T;ENSP00000437271:A145T	ENSP00000350990:A145T	A	-	1	0	TNKS1BP1	56844424	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	0.620000	0.24403	2.225000	0.72522	0.462000	0.41574	GCC		0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		31	47	0	0	0	1	0	31	47				
HOXA9	3205	broad.mit.edu	37	7	27204770	27204770	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:27204770G>C	ENST00000343483.6	-	1	379	c.307C>G	c.(307-309)Ccg>Gcg	p.P103A	RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_Missense_Mutation_p.P103A|RP1-170O19.20_ENST00000470747.4_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	103					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CTGCCGTCCGGCGCCGCCGCC	0.711			T	"""NUP98, MSI2"""	AML*																																	ENST00000343483.6				Dom	yes		7	7p15-p14.2	3205	T	homeo box A9			L	"""NUP98, MSI2"""		AML*		0				central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						c.(307-309)Ccg>Gcg		homeobox A9							7.0	10.0	9.0					7																	27204770		2044	4038	6082	SO:0001583	missense	3205						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27204770G>C		CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"""Homeoboxes / ANTP class : HOXL subclass"""	5109	protein-coding gene	gene with protein product		142956	"""homeo box A9"""	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.307C>G	7.37:g.27204770G>C	ENSP00000343619:p.Pro103Ala					RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000396345.1_Missense_Mutation_p.P103A	p.P103A	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN			1	379	-			103					O43369|O43429|Q99820	Missense_Mutation	SNP	ENST00000343483.6	37	c.307C>G	CCDS5409.1	.	.	.	.	.	.	.	.	.	.	G	4.597	0.110943	0.08831	.	.	ENSG00000078399	ENST00000343483;ENST00000242050;ENST00000396345	D	0.92699	-3.09	5.36	5.36	0.76844	Hox9, N-terminal activation domain (1);	0.000000	0.64402	D	0.000011	D	0.83505	0.5269	N	0.26042	0.785	0.38501	D	0.948226	B	0.10296	0.003	B	0.12156	0.007	T	0.75966	-0.3131	10	0.07813	T	0.8	.	9.0499	0.36369	0.0773:0.1491:0.7737:0.0	.	103	P31269	HXA9_HUMAN	A	103;94;103	ENSP00000343619:P103A	ENSP00000242050:P94A	P	-	1	0	HOXA9	27171295	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.912000	0.56386	2.535000	0.85469	0.561000	0.74099	CCG		0.711	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358706.2			9	14	0	0	0	1	0	9	14				
SP140L	93349	broad.mit.edu	37	2	231249985	231249985	+	Silent	SNP	G	G	A	rs375339347		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:231249985G>A	ENST00000415673.2	+	9	836	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SP140L_ENST00000396563.4_Silent_p.A250A|SP140L_ENST00000444636.1_Silent_p.A250A|SP140L_ENST00000243810.6_Silent_p.A250A	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	250						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAAAGAAGGCGAACATGAATC	0.448																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(748-750)gcG>gcA		SP140 nuclear body protein-like		G		0,3748		0,0,1874	111.0	111.0	111.0		750	-1.0	0.0	2		111	3,8211		0,3,4104	no	coding-synonymous	SP140L	NM_138402.4		0,3,5978	AA,AG,GG		0.0365,0.0,0.0251		250/581	231249985	3,11959	1874	4107	5981	SO:0001819	synonymous_variant	93349					nucleus	DNA binding|metal ion binding	g.chr2:231249985G>A	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.750G>A	2.37:g.231249985G>A						SP140L_ENST00000444636.1_Silent_p.A250A|SP140L_ENST00000396563.4_Silent_p.A250A|SP140L_ENST00000415673.2_Silent_p.A250A	p.A250A			Q9H930	LY10L_HUMAN			9	750	+			250					Q2M375|Q4ZG65|Q9BSP3	Silent	SNP	ENST00000415673.2	37	c.750G>A	CCDS46538.1																																																																																				0.448	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		23	32	0	0	0	1	0	23	32				
NLRP9	338321	broad.mit.edu	37	19	56223200	56223200	+	Silent	SNP	A	A	G	rs149437621	byFrequency	TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:56223200A>G	ENST00000332836.2	-	8	2836	c.2809T>C	c.(2809-2811)Ttg>Ctg	p.L937L	CTD-2611O12.7_ENST00000597680.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	937						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGGTGGCTCAATGCCTCACAC	0.562																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(2809-2811)Ttg>Ctg		NLR family, pyrin domain containing 9		A		12,4388	19.1+/-41.9	0,12,2188	115.0	84.0	94.0		2809	-6.6	0.0	19	dbSNP_134	94	0,8592		0,0,4296	no	coding-synonymous	NLRP9	NM_176820.2		0,12,6484	GG,GA,AA		0.0,0.2727,0.0924		937/992	56223200	12,12980	2200	4296	6496	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56223200A>G	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2809T>C	19.37:g.56223200A>G							p.L937L	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	8	2836	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	937					B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.2809T>C	CCDS12934.1																																																																																				0.562	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		3	25	0	0	0	1	0	3	25				
RAP1GDS1	5910	broad.mit.edu	37	4	99338034	99338034	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:99338034T>C	ENST00000408927.3	+	8	1015	c.902T>C	c.(901-903)cTt>cCt	p.L301P	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L253P|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L302P|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L210P|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L252P|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L302P	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	301					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTATTACTTCTTGGAGGTGAG	0.348			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(901-903)cTt>cCt		RAP1, GTP-GDP dissociation stimulator 1							139.0	134.0	136.0					4																	99338034		1838	4091	5929	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99338034T>C		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.902T>C	4.37:g.99338034T>C	ENSP00000386153:p.Leu301Pro					RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L302P|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L252P|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L210P|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L253P|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L302P	p.L301P	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	8	1015	+			301					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.902T>C	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254737	0.80135	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	5.34	5.34	0.76211	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	L	0.55481	1.735	0.80722	D	1	D;D;D;P;D;D	0.89917	0.997;0.999;0.998;0.946;0.988;1.0	D;D;D;B;P;D	0.83275	0.925;0.996;0.991;0.241;0.51;0.988	T	0.71013	-0.4715	10	0.42905	T	0.14	-7.426	15.4845	0.75555	0.0:0.0:0.0:1.0	.	210;252;253;301;302;302	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	P	253;210;301;302;252;302	ENSP00000369503:L253P;ENSP00000264572:L210P;ENSP00000386153:L301P;ENSP00000407157:L302P;ENSP00000386223:L252P;ENSP00000340454:L302P	ENSP00000264572:L210P	L	+	2	0	RAP1GDS1	99557057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.235000	0.78143	2.240000	0.73641	0.533000	0.62120	CTT		0.348	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		6	90	0	0	0	1	0	6	90				
KIAA0895L	653319	broad.mit.edu	37	16	67211953	67211953	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:67211953C>T	ENST00000290881.7	-	7	2137	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R404H|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.A401T			Q68EN5	K895L_HUMAN	KIAA0895-like	404										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GATGGTCTGGCGATGTCGCAG	0.632																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(1210-1212)cGc>cAc		KIAA0895-like							52.0	51.0	51.0					16																	67211953		2018	4183	6201	SO:0001583	missense	653319							g.chr16:67211953C>T	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.1211G>A	16.37:g.67211953C>T	ENSP00000290881:p.Arg404His					KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R404H|KIAA0895L_ENST00000561679.1_Missense_Mutation_p.R249H|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.A401T	p.R404H			Q68EN5	K895L_HUMAN			7	2137	-			404					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.1211G>A	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	C	36	5.673458	0.96754	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80656	-0.1285	9	0.42905	T	0.14	-18.1877	15.6254	0.76851	0.0:1.0:0.0:0.0	.	404;249	Q68EN5;Q68EN5-3	K895L_HUMAN;.	H	404	.	ENSP00000290881:R404H	R	-	2	0	KIAA0895L	65769454	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.320000	0.79064	2.546000	0.85860	0.650000	0.86243	CGC		0.632	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		8	15	0	0	0	1	0	8	15				
SSH3	54961	broad.mit.edu	37	11	67077742	67077742	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:67077742A>G	ENST00000308127.4	+	13	1793	c.1615A>G	c.(1615-1617)Agg>Ggg	p.R539G	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	539					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGGGGTCATGAGGTCCATCAG	0.617																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1615-1617)Agg>Ggg		slingshot protein phosphatase 3							67.0	73.0	71.0					11																	67077742		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67077742A>G	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1615A>G	11.37:g.67077742A>G	ENSP00000312081:p.Arg539Gly					SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	p.R539G	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	1793	+			539					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.1615A>G	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.505329	0.64410	.	.	ENSG00000172830	ENST00000308127	T	0.05258	3.47	4.65	2.44	0.29823	.	0.000000	0.36665	N	0.002463	T	0.06005	0.0156	N	0.24115	0.695	0.80722	D	1	P;P	0.47409	0.879;0.895	P;B	0.45195	0.473;0.281	T	0.37150	-0.9718	10	0.72032	D	0.01	-21.3967	9.5554	0.39334	0.4583:0.5417:0.0:0.0	.	393;539	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	G	539	ENSP00000312081:R539G	ENSP00000312081:R539G	R	+	1	2	SSH3	66834318	0.976000	0.34144	1.000000	0.80357	0.994000	0.84299	0.170000	0.16663	0.349000	0.23975	0.454000	0.30748	AGG		0.617	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		4	77	0	0	0	1	0	4	77				
ALDH3B2	222	broad.mit.edu	37	11	67433014	67433014	+	Missense_Mutation	SNP	G	G	A	rs528990160		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:67433014G>A	ENST00000349015.3	-	7	886	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	ALDH3B2_ENST00000531881.1_5'Flank|ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R150C	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	150					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.R150C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CAGGCCACGCGGTTGGCCACG	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18458	0.0		0.0	False		,,,				2504	0.0					ENST00000349015.3																			1	Substitution - Missense(1)	p.R150C(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						c.(448-450)Cgc>Tgc		aldehyde dehydrogenase 3 family, member B2	NADH(DB00157)						111.0	120.0	117.0					11																	67433014		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67433014G>A	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.448C>T	11.37:g.67433014G>A	ENSP00000255084:p.Arg150Cys					ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R150C	p.R150C	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN			7	886	-			150					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.448C>T	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070216	0.93950	.	.	ENSG00000132746	ENST00000530069;ENST00000349015	T;T	0.76709	-1.04;-1.04	4.06	4.06	0.47325	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	U	0.000000	D	0.90469	0.7015	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.93121	0.6525	10	0.87932	D	0	.	16.3503	0.83202	0.0:0.0:1.0:0.0	.	35;150	B4DSX1;P48448	.;AL3B2_HUMAN	C	150	ENSP00000431595:R150C;ENSP00000255084:R150C	ENSP00000255084:R150C	R	-	1	0	ALDH3B2	67189590	1.000000	0.71417	0.965000	0.40720	0.680000	0.39746	6.074000	0.71253	2.245000	0.73994	0.462000	0.41574	CGC		0.667	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		51	131	0	0	0	1	0	51	131				
SRSF6	6431	broad.mit.edu	37	20	42088683	42088683	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr20:42088683G>T	ENST00000244020.3	+	4	498	c.392G>T	c.(391-393)cGa>cTa	p.R131L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	131	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GATTTTATGCGACAAGCAGGT	0.393																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(391-393)cGa>cTa		serine/arginine-rich splicing factor 6							102.0	101.0	102.0					20																	42088683		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088683G>T	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.392G>T	20.37:g.42088683G>T	ENSP00000244020:p.Arg131Leu						p.R131L	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			4	498	+			131			RRM 2.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.392G>T	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356446	0.82243	.	.	ENSG00000124193	ENST00000244020	T	0.17370	2.28	6.08	6.08	0.98989	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.045636	0.85682	D	0.000000	T	0.60011	0.2236	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.72714	-0.4210	10	0.87932	D	0	.	19.4436	0.94836	0.0:0.0:1.0:0.0	.	131;131	Q13247;A8K588	SRSF6_HUMAN;.	L	131	ENSP00000244020:R131L	ENSP00000244020:R131L	R	+	2	0	SRSF6	41522097	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.756000	0.98918	2.894000	0.99253	0.591000	0.81541	CGA		0.393	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		4	60	1	0	0.00909568	1	0.0092581	4	60				
ZNF285	26974	broad.mit.edu	37	19	44890648	44890648	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:44890648T>C	ENST00000330997.4	-	4	1823	c.1759A>G	c.(1759-1761)Aga>Gga	p.R587G	ZNF285_ENST00000591679.1_Missense_Mutation_p.R594G|ZNF285_ENST00000544719.2_Missense_Mutation_p.R587G|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	587					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AATGTTTCTCTCTGCTCATGT	0.433																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1759-1761)Aga>Gga		zinc finger protein 285							116.0	98.0	104.0					19																	44890648		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44890648T>C	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1759A>G	19.37:g.44890648T>C	ENSP00000333595:p.Arg587Gly					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.R594G|ZNF285_ENST00000544719.2_Missense_Mutation_p.R587G	p.R587G	NM_152354.3	NP_689567.3					4	1823	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1759A>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	4.138	0.024026	0.08006	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06768	3.26	3.28	0.0327	0.14176	.	.	.	.	.	T	0.05593	0.0147	N	0.17723	0.515	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37056	-0.9722	9	0.72032	D	0.01	.	7.1905	0.25822	0.0:0.4426:0.0:0.5574	.	611;587	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	610;587	ENSP00000333595:R587G	ENSP00000333595:R587G	R	-	1	2	ZNF285	49582488	0.940000	0.31905	0.001000	0.08648	0.029000	0.11900	1.299000	0.33424	0.079000	0.16929	0.373000	0.22412	AGA		0.433	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		3	32	0	0	0	1	0	3	32				
TMUB2	79089	broad.mit.edu	37	17	42268191	42268191	+	Missense_Mutation	SNP	G	G	A	rs139203660		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:42268191G>A	ENST00000587989.1	+	4	1078	c.925G>A	c.(925-927)Gtc>Atc	p.V309I	TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000319511.6_Missense_Mutation_p.V289I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V252I|TMUB2_ENST00000538716.2_Missense_Mutation_p.V309I|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.V289I|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.V289I			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	309						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGAGTCACCGTCTTCTTCAG	0.498																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(865-867)Gtc>Atc		transmembrane and ubiquitin-like domain containing 2		G	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	132.0	126.0	128.0		925,865,865	4.2	0.8	17	dbSNP_134	128	0,8600		0,0,4300	no	missense,missense,missense	TMUB2	NM_001076674.1,NM_024107.2,NM_177441.2	29,29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	309/322,289/302,289/302	42268191	2,13004	2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42268191G>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.925G>A	17.37:g.42268191G>A	ENSP00000466971:p.Val309Ile					TMUB2_ENST00000538716.2_Missense_Mutation_p.V309I|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.V309I|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000446571.3_Missense_Mutation_p.V252I|TMUB2_ENST00000357984.3_Missense_Mutation_p.V289I|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.V289I	p.V289I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	1515	+		Breast(137;0.00765)|Prostate(33;0.0181)	309					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.865G>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971701	0.74246	4.54E-4	0.0	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.49720	0.87;0.78;0.77;0.78	5.24	4.24	0.50183	.	0.125034	0.52532	D	0.000062	T	0.57666	0.2069	L	0.39898	1.24	0.54753	D	0.999983	D;D;D	0.89917	0.962;0.978;1.0	B;P;D	0.76575	0.216;0.525;0.988	T	0.54397	-0.8300	10	0.31617	T	0.26	0.5176	13.9539	0.64135	0.0:0.0:0.8469:0.1531	.	252;289;309	E7ESS3;Q71RG4-2;Q71RG4	.;.;TMUB2_HUMAN	I	252;289;309;289	ENSP00000413127:V252I;ENSP00000350672:V289I;ENSP00000444565:V309I;ENSP00000313214:V289I	ENSP00000313214:V289I	V	+	1	0	TMUB2	39623717	1.000000	0.71417	0.824000	0.32777	0.922000	0.55478	4.403000	0.59729	1.389000	0.46526	0.555000	0.69702	GTC		0.498	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		11	89	0	0	0	1	0	11	89				
NAT8	9027	broad.mit.edu	37	2	73868602	73868602	+	Missense_Mutation	SNP	C	C	T	rs539613764		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:73868602C>T	ENST00000272425.3	-	2	303	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGGAGTAGGGCGAGGGGCCCC	0.612													.|||	1	0.000199681	0.0	0.0	5008	,	,		18504	0.0		0.0	False		,,,				2504	0.001					ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(154-156)Gcc>Acc		N-acetyltransferase 8 (GCN5-related, putative)							76.0	90.0	85.0					2																	73868602		2203	4300	6503	SO:0001583	missense	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868602C>T	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.154G>A	2.37:g.73868602C>T	ENSP00000272425:p.Ala52Thr						p.A52T	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	303	-			52						Missense_Mutation	SNP	ENST00000272425.3	37	c.154G>A	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261380	0.23051	.	.	ENSG00000144035	ENST00000272425	T	0.36157	1.27	3.86	-3.34	0.04943	.	0.911310	0.09413	N	0.805565	T	0.19685	0.0473	L	0.42632	1.34	0.09310	N	1	P	0.34546	0.456	B	0.22753	0.041	T	0.13255	-1.0516	10	0.23302	T	0.38	-0.0269	4.0369	0.09733	0.2603:0.2973:0.0:0.4424	.	52	Q9UHE5	NAT8_HUMAN	T	52	ENSP00000272425:A52T	ENSP00000272425:A52T	A	-	1	0	NAT8	73722110	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.349000	0.20055	-0.935000	0.03728	0.644000	0.83932	GCC		0.612	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		38	52	0	0	0	1	0	38	52				
SAMD9	54809	broad.mit.edu	37	7	92730801	92730801	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:92730801T>C	ENST00000379958.2	-	3	4879	c.4610A>G	c.(4609-4611)aAt>aGt	p.N1537S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1537						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATATAAACAATTGTTTTCAGC	0.383																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4609-4611)aAt>aGt		sterile alpha motif domain containing 9							74.0	79.0	77.0					7																	92730801		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92730801T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4610A>G	7.37:g.92730801T>C	ENSP00000369292:p.Asn1537Ser						p.N1537S	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4879	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1537					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4610A>G	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	3.049	-0.195783	0.06259	.	.	ENSG00000205413	ENST00000379958	T	0.21361	2.01	4.34	4.34	0.51931	.	0.285472	0.25581	U	0.029686	T	0.16300	0.0392	L	0.40543	1.245	0.09310	N	1	B	0.26809	0.16	B	0.26094	0.066	T	0.14420	-1.0473	10	0.23891	T	0.37	.	9.6597	0.39947	0.0:0.0:0.1749:0.8251	.	1537	Q5K651	SAMD9_HUMAN	S	1537	ENSP00000369292:N1537S	ENSP00000369292:N1537S	N	-	2	0	SAMD9	92568737	0.036000	0.19791	0.345000	0.25642	0.557000	0.35523	1.245000	0.32790	1.958000	0.56883	0.496000	0.49642	AAT		0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		14	45	0	0	0	1	0	14	45				
IQCA1	79781	broad.mit.edu	37	2	237240097	237240097	+	Missense_Mutation	SNP	G	G	A	rs374268870		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:237240097G>A	ENST00000409907.3	-	18	2552	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	IQCA1_ENST00000431676.2_Missense_Mutation_p.R719W|IQCA1_ENST00000309507.5_Missense_Mutation_p.R757W	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	760							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATTTGCCGCCGGATTCTCTGA	0.473																																						ENST00000409907.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						c.(2278-2280)Cgg>Tgg		IQ motif containing with AAA domain 1							174.0	171.0	172.0					2																	237240097		2068	4215	6283	SO:0001583	missense	79781						ATP binding	g.chr2:237240097G>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.2278C>T	2.37:g.237240097G>A	ENSP00000387347:p.Arg760Trp					IQCA1_ENST00000309507.5_Missense_Mutation_p.R757W|IQCA1_ENST00000431676.2_Missense_Mutation_p.R719W	p.R760W			Q86XH1	IQCA1_HUMAN			18	2552	-			760					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.2278C>T	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953889	0.34471	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676	D;D;T	0.94138	-3.36;-3.36;1.44	5.23	3.3	0.37823	.	0.552403	0.17395	N	0.175788	D	0.94689	0.8287	M	0.77103	2.36	0.09310	N	0.999997	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.55871	0.676;0.786;0.786	D	0.88269	0.2928	10	0.59425	D	0.04	.	9.2566	0.37586	0.0:0.1279:0.4918:0.3803	.	719;768;760	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	W	760;768;757;719	ENSP00000387347:R760W;ENSP00000311951:R757W;ENSP00000407213:R719W	ENSP00000311951:R757W	R	-	1	2	IQCA1	236904836	0.029000	0.19370	0.055000	0.19348	0.038000	0.13279	0.337000	0.19841	1.174000	0.42811	0.655000	0.94253	CGG		0.473	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		7	121	0	0	0	1	0	7	121				
KLHL38	340359	broad.mit.edu	37	8	124664296	124664296	+	Missense_Mutation	SNP	C	C	T	rs377275127		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:124664296C>T	ENST00000325995.7	-	1	894	c.871G>A	c.(871-873)Gga>Aga	p.G291R	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	291										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCCTTCCTTCCGCCCAAGAGG	0.542																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(871-873)Gga>Aga		kelch-like family member 38		C	ARG/GLY	1,4045		0,1,2022	102.0	103.0	103.0		871	5.7	0.9	8		103	0,8384		0,0,4192	no	missense	KLHL38	NM_001081675.2	125	0,1,6214	TT,TC,CC		0.0,0.0247,0.0080	probably-damaging	291/582	124664296	1,12429	2023	4192	6215	SO:0001583	missense	340359							g.chr8:124664296C>T		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.871G>A	8.37:g.124664296C>T	ENSP00000321475:p.Gly291Arg					CTD-2552K11.2_ENST00000524355.1_RNA	p.G291R	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	894	-			291					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.871G>A	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462986	0.84425	2.47E-4	0.0	ENSG00000175946	ENST00000325995	T	0.74632	-0.86	5.69	5.69	0.88448	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.89694	0.6789	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91320	0.5081	10	0.87932	D	0	.	19.815	0.96564	0.0:1.0:0.0:0.0	.	291	Q2WGJ6	KLH38_HUMAN	R	291	ENSP00000321475:G291R	ENSP00000321475:G291R	G	-	1	0	KLHL38	124733477	1.000000	0.71417	0.891000	0.34965	0.836000	0.47400	7.770000	0.85390	2.681000	0.91329	0.561000	0.74099	GGA		0.542	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			15	57	0	0	0	1	0	15	57				
CDH13	1012	broad.mit.edu	37	16	82892059	82892059	+	Silent	SNP	G	G	A			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:82892059G>A	ENST00000566620.1	+	2	428	c.138G>A	c.(136-138)gaG>gaA	p.E46E	CDH13_ENST00000268613.10_Silent_p.E93E|CDH13_ENST00000428848.3_Silent_p.E46E|CDH13_ENST00000446376.2_Silent_p.E46E|CDH13_ENST00000431540.3_Silent_p.E46E|CDH13_ENST00000567445.1_Silent_p.E46E|CDH13_ENST00000565636.1_Silent_p.E46E	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	46					adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AATTCATTGAGGACCAGTCAA	0.393																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(136-138)gaG>gaA		cadherin 13							83.0	77.0	79.0					16																	82892059		1881	4113	5994	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:82892059G>A	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.138G>A	16.37:g.82892059G>A						CDH13_ENST00000567445.1_Silent_p.E46E|CDH13_ENST00000431540.3_Silent_p.E46E|CDH13_ENST00000268613.10_Silent_p.E93E|CDH13_ENST00000565636.1_Silent_p.E46E|CDH13_ENST00000428848.3_Silent_p.E46E|CDH13_ENST00000446376.2_Silent_p.E46E	p.E46E	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	2	428	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	46					A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.138G>A	CCDS58486.1																																																																																				0.393	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		3	16	0	0	0	1	0	3	16				
ANKRD17	26057	broad.mit.edu	37	4	74000833	74000833	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:74000833C>T	ENST00000358602.4	-	16	3351		c.e16+1		ANKRD17_ENST00000514252.1_Splice_Site|ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGGACTTACCTGTGCATCA	0.393																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.e16+1		ankyrin repeat domain 17							155.0	140.0	145.0					4																	74000833		2203	4300	6503	SO:0001630	splice_region_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74000833C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3234+1G>A	4.37:g.74000833C>T						ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site|ANKRD17_ENST00000514252.1_Splice_Site		NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		16	3351	-	Breast(15;0.000295)							E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Splice_Site	SNP	ENST00000358602.4	37		CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373311	0.82573	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7957	0.91993	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD17	74219697	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.074000	0.76791	2.436000	0.82500	0.650000	0.86243	.		0.393	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	Intron	29	36	0	0	0	1	0	29	36				
MED8	112950	broad.mit.edu	37	1	43850142	43850143	+	3'UTR	INS	-	-	T			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:43850142_43850143insT	ENST00000372457.4	-	0	1420_1421				MED8_ENST00000290663.6_Frame_Shift_Ins_p.N295fs|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8						gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAGGTGGGCATTTTTTTTTCC	0.51																																						ENST00000290663.6																			0				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9						c.(883-885)agcfs		mediator complex subunit 8																																				SO:0001624	3_prime_UTR_variant	112950				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr1:43850142_43850143insT	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.*571->A	1.37:g.43850151_43850151dupT						MED8_ENST00000372457.4_3'UTR	p.S295fs	NM_052877.3	NP_443109.2	Q96G25	MED8_HUMAN			8	927_928	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	0					A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Frame_Shift_Ins	INS	ENST00000372457.4	37	c.884_885insA	CCDS487.2																																																																																				0.510	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318959.1	NM_052877		3	3						3	3	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78425910	78425910	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:78425910delT	ENST00000370768.2	-	16	1616	c.1535delA	c.(1534-1536)aatfs	p.N512fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.N533fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.N512fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	512	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGGATATGCATTTCCCCATCC	0.438			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1534-1536)atfs		far upstream element (FUSE) binding protein 1							54.0	57.0	56.0					1																	78425910		2203	4300	6503	SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78425910delT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1535delA	1.37:g.78425910delT	ENSP00000359804:p.Asn512fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.N512fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.N533fs	p.N512fs			Q96AE4	FUBP1_HUMAN			16	1622	-			512			Pro-rich.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1535delA	CCDS683.1																																																																																				0.438	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		25	13						25	13	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-	rs376016449		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(391-396)ccc>cc		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32419951_32419953delGGT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.393_395delACC	5.37:g.32419960_32419962delGGT	ENSP00000265069:p.Pro133del						p.PP131del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	3	495_497	-			131			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.393_395delACC	CCDS34139.1																																																																																				0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			7	186						7	186	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17852203	17852203	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr6:17852203delC	ENST00000259711.6	-	7	670	c.565delG	c.(565-567)gctfs	p.A189fs	KIF13A_ENST00000378843.2_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378814.5_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378826.2_Frame_Shift_Del_p.A189fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	189	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTAGTGACAGCTAGTTGAGAT	0.333																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(565-567)ctfs		kinesin family member 13A							48.0	46.0	47.0					6																	17852203		1823	4071	5894	SO:0001589	frameshift_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17852203delC	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.565delG	6.37:g.17852203delC	ENSP00000259711:p.Ala189fs					KIF13A_ENST00000378826.2_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000259711.6_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.A189fs	p.A189fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		7	564	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	189			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Del	DEL	ENST00000259711.6	37	c.565delG	CCDS47381.1																																																																																				0.333	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			2	4						2	4	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226819	65226819	+	RNA	DEL	A	A	-	rs530400395	byFrequency	TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:65226819delA	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AATGGGGACCAAAAAAAAAAT	0.353													|||unknown(NO_COVERAGE)	16	0.00319489	0.0068	0.0	5008	,	,		14661	0.005		0.0	False		,,,				2504	0.002					ENST00000442266.1																			0																																																			0							g.chr7:65226819delA	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226819delA														0	1167	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.353	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		2	4						2	4	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42796882	42796883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:42796882_42796883insC	ENST00000575354.2	+	14	3380_3381	c.3340_3341insC	c.(3340-3342)gccfs	p.A1114fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.A2022fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A1113fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1114	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCATCCCAGGCCCCCCCAAGC	0.683			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Insertion - Frameshift(1)	p.S1117fs*34(1)	large_intestine(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6064-6066)cccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796882_42796883insC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3347dupC	19.37:g.42796889_42796889dupC	ENSP00000458663:p.Ala1114fs					CIC_ENST00000160740.3_Frame_Shift_Ins_p.P1113fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.P1114fs	p.P2022fs			Q96RK0	CIC_HUMAN			15	6132_6133	+		Prostate(69;0.00682)	1114					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.6064_6065insC	CCDS12601.1																																																																																				0.683	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			36	32						36	32	---	---	---	---
ZBTB33	10009	broad.mit.edu	37	X	119389238	119389239	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chrX:119389238_119389239delTG	ENST00000326624.2	+	2	2196_2197	c.1968_1969delTG	c.(1966-1971)aatgtafs	p.V657fs	ZBTB33_ENST00000557385.1_Frame_Shift_Del_p.V657fs	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	657	Interaction with CTNND1. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTAAACAAAATGTAACAGATGG	0.361																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1966-1971)aatafs		zinc finger and BTB domain containing 33																																				SO:0001589	frameshift_variant	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119389238_119389239delTG	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1968_1969delTG	X.37:g.119389238_119389239delTG	ENSP00000314153:p.Val657fs					ZBTB33_ENST00000557385.1_Frame_Shift_Del_p.NV656fs	p.NV656fs	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	2196_2197	+			656			Interaction with CTNND1 (By similarity).		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Frame_Shift_Del	DEL	ENST00000326624.2	37	c.1968_1969delTG	CCDS14596.1																																																																																				0.361	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		7	50						7	50	---	---	---	---
