#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CASZ1	54897	broad.mit.edu	37	1	10699678	10699678	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:10699678C>T	ENST00000377022.3	-	21	4918	c.4601G>A	c.(4600-4602)cGc>cAc	p.R1534H	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1534					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTGGTGCTTGCGATGCGCCGT	0.662																																						uc001aro.2		NA																	0				skin(1)	1						c.(4600-4602)CGC>CAC		castor homolog 1, zinc finger isoform a							31.0	39.0	36.0					1																	10699678		2152	4257	6409	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699678C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4601G>A	1.37:g.10699678C>T	ENSP00000366221:p.Arg1534His						p.R1534H	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	4921	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1534			C2H2-type 7.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4601G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436732	0.96168	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.45867	U	0.000328	T	0.75332	0.3835	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77216	-0.2669	9	0.56958	D	0.05	-22.0156	17.9835	0.89148	0.0:1.0:0.0:0.0	.	1534	Q86V15	CASZ1_HUMAN	H	1534	.	ENSP00000366221:R1534H	R	-	2	0	CASZ1	10622265	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.662000	0.83803	2.256000	0.74724	0.460000	0.39030	CGC		0.662	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		5	7	0	0	0	0	5	7				
PADI4	23569	broad.mit.edu	37	1	17682852	17682853	+	Splice_Site	DNP	GG	GG	AT			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:17682852_17682853GG>AT	ENST00000375448.4	+	13	1482_1483	c.1456_1457GG>AT	c.(1456-1458)GGc>ATc	p.G486I	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	486					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGCCTCCAGGGCTTCCGGCTG	0.609																																						uc001baj.2		NA																	0				ovary(1)|skin(1)	2						c.(1456-1458)GGC>ATC		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)																																			SO:0001630	splice_region_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17682852_17682853GG>AT	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	Exception_encountered	1.37:g.17682852_17682853delinsAT							p.G486I	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	13	1484_1485	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	486					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	DNP	ENST00000375448.4	37	c.1456_1457GG>AT	CCDS180.1																																																																																				0.609	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387	Missense_Mutation	3	21	0	0	0	0	3	21				
UBR4	23352	broad.mit.edu	37	1	19487581	19487581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:19487581G>A	ENST00000375254.3	-	38	5263	c.5236C>T	c.(5236-5238)Cag>Tag	p.Q1746*	UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q1746*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.Q1746*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1746					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTTCACTCTGAAATGCCGAC	0.512																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(5236-5238)CAG>TAG		retinoblastoma-associated factor 600							85.0	72.0	76.0					1																	19487581		2203	4300	6503	SO:0001587	stop_gained	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19487581G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5236C>T	1.37:g.19487581G>A	ENSP00000364403:p.Gln1746*					UBR4_uc001bbm.1_Nonsense_Mutation_p.Q957*	p.Q1746*	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	38	5240	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1746					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	c.5236C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	38	6.731215	0.97796	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	.	.	.	5.93	5.93	0.95920	.	0.064269	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	.	.	.	X	1746;1746;1746;1746;456;962	.	ENSP00000364365:Q1746X	Q	-	1	0	UBR4	19360168	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CAG		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		3	23	0	0	0	0	3	23				
GJA9	81025	broad.mit.edu	37	1	39341347	39341347	+	Silent	SNP	T	T	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:39341347T>G	ENST00000360786.3	-	1	676	c.424A>C	c.(424-426)Agg>Cgg	p.R142R	RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.R142R|GJA9_ENST00000454994.2_Silent_p.R142R|MYCBP_ENST00000397572.2_5'Flank|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	142					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTTAGTTTCCTTTTCTCCAGC	0.433																																						uc001cct.1		NA																	0					0						c.(424-426)AGG>CGG		gap junction protein, alpha 9, 59kDa							167.0	157.0	160.0					1																	39341347		2203	4300	6503	SO:0001819	synonymous_variant	81025				cell communication	connexon complex|integral to membrane		g.chr1:39341347T>G	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.424A>C	1.37:g.39341347T>G						RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.R142R	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	705	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	142			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000360786.3	37	c.424A>C	CCDS432.1																																																																																				0.433	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		26	51	0	0	0	0	26	51				
MSH4	4438	broad.mit.edu	37	1	76269464	76269464	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:76269464C>T	ENST00000263187.3	+	2	397	c.293C>T	c.(292-294)tCa>tTa	p.S98L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	98					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ACAGTTGCATCAAATTTTACT	0.328								Mismatch excision repair (MMR)																														uc001dhd.1		NA																	0				lung(3)|ovary(2)	5						c.(292-294)TCA>TTA	MMR	mutS homolog 4							72.0	75.0	74.0					1																	76269464		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76269464C>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.293C>T	1.37:g.76269464C>T	ENSP00000263187:p.Ser98Leu						p.S98L	NM_002440	NP_002431	O15457	MSH4_HUMAN			2	334	+			98					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.293C>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.027357	0.02045	.	.	ENSG00000057468	ENST00000263187	D	0.88201	-2.35	4.73	3.68	0.42216	.	0.782660	0.11739	N	0.534256	T	0.60663	0.2286	N	0.12746	0.255	0.26116	N	0.980614	B	0.02656	0.0	B	0.01281	0.0	T	0.48592	-0.9022	10	0.40728	T	0.16	.	2.5428	0.04730	0.0:0.435:0.3295:0.2355	.	98	O15457	MSH4_HUMAN	L	98	ENSP00000263187:S98L	ENSP00000263187:S98L	S	+	2	0	MSH4	76042052	0.828000	0.29307	0.934000	0.37439	0.295000	0.27426	2.313000	0.43735	2.172000	0.68678	0.555000	0.69702	TCA		0.328	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		5	39	0	0	0	0	5	39				
IGSF8	93185	broad.mit.edu	37	1	160062266	160062266	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:160062266C>T	ENST00000368086.1	-	5	1748	c.1532G>A	c.(1531-1533)cGg>cAg	p.R511Q	IGSF8_ENST00000314485.7_Missense_Mutation_p.R511Q|IGSF8_ENST00000460351.1_5'Flank			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	511	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTCCAGGCCGGACTCCCAG	0.662																																						uc001fva.2		NA																	0					0						c.(1531-1533)CGG>CAG		immunoglobulin superfamily, member 8							28.0	29.0	29.0					1																	160062266		2203	4299	6502	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160062266C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.1532G>A	1.37:g.160062266C>T	ENSP00000357065:p.Arg511Gln					IGSF8_uc001fuz.2_Missense_Mutation_p.R511Q|IGSF8_uc009wtf.2_Missense_Mutation_p.R511Q	p.R511Q	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		5	1577	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		511			Ig-like C2-type 4.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.1532G>A	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782714	0.49891	.	.	ENSG00000162729	ENST00000314485;ENST00000368086	T;T	0.06849	3.25;3.25	2.88	1.95	0.26073	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.373012	0.20591	U	0.089349	T	0.05502	0.0145	L	0.46157	1.445	0.30451	N	0.775297	D	0.76494	0.999	P	0.54140	0.743	T	0.27640	-1.0068	10	0.34782	T	0.22	-13.9574	8.5961	0.33716	0.0:0.8763:0.0:0.1237	.	511	Q969P0	IGSF8_HUMAN	Q	511	ENSP00000316664:R511Q;ENSP00000357065:R511Q	ENSP00000316664:R511Q	R	-	2	0	IGSF8	158328890	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	1.206000	0.32321	0.407000	0.25591	0.400000	0.26472	CGG		0.662	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		5	19	0	0	0	0	5	19				
PFDN2	5202	broad.mit.edu	37	1	161071851	161071851	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:161071851T>C	ENST00000368010.3	-	3	359	c.275A>G	c.(274-276)aAc>aGc	p.N92S	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	92					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTCCTTGTTGTTCTCCAAAGC	0.522																																						uc001fxu.2		NA																	0					0						c.(274-276)AAC>AGC		prefoldin subunit 2							116.0	103.0	107.0					1																	161071851		2203	4300	6503	SO:0001583	missense	5202				'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding	g.chr1:161071851T>C	AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"""prefoldin 2"""			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.275A>G	1.37:g.161071851T>C	ENSP00000356989:p.Asn92Ser						p.N92S	NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	325	-	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		92					Q9P0P7|Q9UN05	Missense_Mutation	SNP	ENST00000368010.3	37	c.275A>G	CCDS1217.1	.	.	.	.	.	.	.	.	.	.	T	5.013	0.188099	0.09547	.	.	ENSG00000143256	ENST00000368010	T	0.41065	1.01	4.98	1.36	0.22044	Prefoldin beta-like (1);Prefoldin (1);	0.461885	0.25903	N	0.027554	T	0.05777	0.0151	N	0.04655	-0.195	0.34634	D	0.719965	B	0.18968	0.032	B	0.19666	0.026	T	0.28073	-1.0055	10	0.10111	T	0.7	-4.9017	7.2084	0.25919	0.0:0.3157:0.0:0.6843	.	92	Q9UHV9	PFD2_HUMAN	S	92	ENSP00000356989:N92S	ENSP00000356989:N92S	N	-	2	0	PFDN2	159338475	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	0.634000	0.24614	0.397000	0.25310	0.459000	0.35465	AAC		0.522	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077100.1	NM_012394		6	22	0	0	0	0	6	22				
SOX13	9580	broad.mit.edu	37	1	204085788	204085788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr1:204085788C>T	ENST00000367204.1	+	5	681	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	191	Gln-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGAGCTTGCCCGGCAGCAG	0.587																																						uc001ham.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(571-573)GCC>GTC		SRY-box 13							53.0	59.0	57.0					1																	204085788		2081	4224	6305	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204085788C>T		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.572C>T	1.37:g.204085788C>T	ENSP00000356172:p.Ala191Val					SOX13_uc001hal.2_Missense_Mutation_p.A191V|SOX13_uc010pqp.1_Missense_Mutation_p.A191V|SOX13_uc010pqq.1_Missense_Mutation_p.A58V	p.A191V	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1167	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		191			Gln-rich.		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.572C>T	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197475	0.94960	.	.	ENSG00000143842	ENST00000367204	D	0.98585	-5.01	5.21	5.21	0.72293	.	0.105215	0.64402	D	0.000006	D	0.98883	0.9622	M	0.81341	2.54	0.58432	D	0.999994	P;D;P;P	0.76494	0.856;0.999;0.952;0.948	B;D;P;P	0.80764	0.322;0.994;0.612;0.642	D	0.99785	1.1029	10	0.59425	D	0.04	.	17.537	0.87834	0.0:1.0:0.0:0.0	.	58;59;191;173	B4DX26;B4E3N9;Q9UN79;Q5SXX2	.;.;SOX13_HUMAN;.	V	191	ENSP00000356172:A191V	ENSP00000356172:A191V	A	+	2	0	SOX13	202352411	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.434000	0.80377	2.416000	0.81992	0.655000	0.94253	GCC		0.587	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		3	38	0	0	0	0	3	38				
FBXO18	84893	broad.mit.edu	37	10	5951214	5951214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:5951214C>T	ENST00000362091.4	+	5	1092	c.977C>T	c.(976-978)gCg>gTg	p.A326V	FBXO18_ENST00000379999.5_Missense_Mutation_p.A377V|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	326					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GAGGCTGAGGCGTGTGTGCGG	0.612																																						uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(976-978)GCG>GTG		F-box only protein, helicase, 18 isoform 2							65.0	60.0	62.0					10																	5951214		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5951214C>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.977C>T	10.37:g.5951214C>T	ENSP00000355415:p.Ala326Val					FBXO18_uc001iir.2_Missense_Mutation_p.A252V|FBXO18_uc009xig.2_Missense_Mutation_p.A252V|FBXO18_uc001iit.2_Missense_Mutation_p.A377V	p.A326V	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			5	1072	+			326					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.977C>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	8.594	0.885270	0.17540	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	4.99	3.1	0.35709	.	0.111233	0.64402	D	0.000013	T	0.28234	0.0697	N	0.17474	0.49	0.80722	D	1	B;B;B	0.27013	0.166;0.043;0.043	B;B;B	0.15870	0.014;0.006;0.004	T	0.05750	-1.0866	9	0.15499	T	0.54	-9.7641	6.8669	0.24098	0.0:0.6938:0.1647:0.1416	.	377;326;252	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	V	326;63;377;63	.	ENSP00000355415:A326V	A	+	2	0	FBXO18	5991220	0.917000	0.31117	0.828000	0.32881	0.008000	0.06430	1.744000	0.38268	1.226000	0.43582	0.561000	0.74099	GCG		0.612	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		11	19	0	0	0	0	11	19				
KIAA1462	57608	broad.mit.edu	37	10	30317939	30317939	+	Missense_Mutation	SNP	C	C	A	rs555052022		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:30317939C>A	ENST00000375377.1	-	3	1239	c.1138G>T	c.(1138-1140)Gct>Tct	p.A380S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	380	Pro-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGCCCCAGCCTTCTCGGTC	0.632																																						uc001iux.2		NA																	0				ovary(4)	4						c.(1138-1140)GCT>TCT		hypothetical protein LOC57608							73.0	77.0	76.0					10																	30317939		2040	4191	6231	SO:0001583	missense	57608							g.chr10:30317939C>A	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1138G>T	10.37:g.30317939C>A	ENSP00000364526:p.Ala380Ser					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A242S|KIAA1462_uc009xle.1_Missense_Mutation_p.A380S	p.A380S	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	1197	-			380			Pro-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1138G>T	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967543	0.53507	.	.	ENSG00000165757	ENST00000375377	T	0.13657	2.57	5.27	-6.42	0.01932	.	0.684459	0.14664	N	0.305791	T	0.07593	0.0191	L	0.47716	1.5	0.09310	N	1	P	0.43938	0.822	B	0.35039	0.194	T	0.35724	-0.9777	10	0.15952	T	0.53	-0.5886	10.5459	0.45060	0.0:0.2132:0.5521:0.2347	.	380	Q9P266	K1462_HUMAN	S	380	ENSP00000364526:A380S	ENSP00000364526:A380S	A	-	1	0	KIAA1462	30357945	0.000000	0.05858	0.002000	0.10522	0.861000	0.49209	-0.614000	0.05604	-0.668000	0.05296	0.561000	0.74099	GCT		0.632	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		7	90	1	0	8.13e-05	8.79e-05	7	90				
COL17A1	1308	broad.mit.edu	37	10	105812854	105812854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:105812854C>T	ENST00000353479.5	-	23	2164	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Missense_Mutation_p.R625Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	625	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGCCTTCTCGCCCTCTCTG	0.597																																						uc001kxr.2		NA																	0				ovary(4)|pancreas(1)	5						c.(1873-1875)CGA>CAA		alpha 1 type XVII collagen							114.0	109.0	111.0					10																	105812854		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105812854C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1874G>A	10.37:g.105812854C>T	ENSP00000340937:p.Arg625Gln					COL17A1_uc010qqv.1_Missense_Mutation_p.R609Q	p.R625Q	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	23	2043	-		Colorectal(252;0.103)|Breast(234;0.122)	625			Extracellular (Potential).|Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.1874G>A	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789816	0.70337	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.93247	-3.19;-3.19	5.5	3.57	0.40892	.	0.230174	0.22100	N	0.064622	D	0.85336	0.5673	L	0.34521	1.04	0.80722	D	1	P;B	0.36065	0.535;0.272	B;B	0.26614	0.071;0.012	T	0.81351	-0.0972	10	0.16896	T	0.51	-5.538	10.209	0.43131	0.1378:0.7892:0.0:0.0729	.	625;625	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	Q	625	ENSP00000340937:R625Q;ENSP00000358748:R625Q	ENSP00000340937:R625Q	R	-	2	0	COL17A1	105802844	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.881000	0.48538	1.268000	0.44264	0.462000	0.41574	CGA		0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		34	50	0	0	0	0	34	50				
ADAM12	8038	broad.mit.edu	37	10	127786990	127786990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr10:127786990C>A	ENST00000368679.4	-	10	1309	c.1000G>T	c.(1000-1002)Gtc>Ttc	p.V334F	ADAM12_ENST00000368676.4_Missense_Mutation_p.V334F	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	334	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTTACCATGACAATTCCCCCA	0.483																																						uc001ljk.2		NA																	0				breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(1000-1002)GTC>TTC		ADAM metallopeptidase domain 12 isoform 1							168.0	155.0	159.0					10																	127786990		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127786990C>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1000G>T	10.37:g.127786990C>A	ENSP00000357668:p.Val334Phe					ADAM12_uc010qul.1_Missense_Mutation_p.V285F|ADAM12_uc001ljm.2_Missense_Mutation_p.V334F|ADAM12_uc001ljn.2_Missense_Mutation_p.V331F|ADAM12_uc001ljl.3_Missense_Mutation_p.V331F	p.V334F	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	10	1413	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	334			Extracellular (Potential).|Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1000G>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141920	0.77775	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	D;D	0.87650	-2.28;-2.28	4.83	4.83	0.62350	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	D	0.93488	0.7922	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.995;0.995;0.995;0.992	D;D;D;D;D	0.71870	0.961;0.934;0.934;0.951;0.975	D	0.93806	0.7105	10	0.59425	D	0.04	.	18.4753	0.90790	0.0:1.0:0.0:0.0	.	331;331;334;331;334	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	F	334	ENSP00000357668:V334F;ENSP00000357665:V334F	ENSP00000357665:V334F	V	-	1	0	ADAM12	127776980	0.998000	0.40836	0.958000	0.39756	0.728000	0.41692	3.826000	0.55738	2.655000	0.90218	0.655000	0.94253	GTC		0.483	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			43	75	1	0	2.02e-29	2.29e-29	43	75				
OR51I1	390063	broad.mit.edu	37	11	5461808	5461808	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:5461808G>C	ENST00000380211.1	-	1	936	c.937C>G	c.(937-939)Cag>Gag	p.Q313E	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	313					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCAGGCCTGGGATTTATGG	0.463																																						uc010qze.1		NA																	0				ovary(1)	1						c.(937-939)CAG>GAG		olfactory receptor, family 51, subfamily I,							71.0	70.0	70.0					11																	5461808		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5461808G>C	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.937C>G	11.37:g.5461808G>C	ENSP00000369559:p.Gln313Glu					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.Q313E	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	937	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	313			Cytoplasmic (Potential).		B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.937C>G	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274743	0.40194	.	.	ENSG00000167359	ENST00000321307;ENST00000380211	T	0.00808	5.67	4.75	-0.426	0.12314	.	1.435080	0.04581	N	0.394962	T	0.00845	0.0028	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.47736	-0.9094	10	0.42905	T	0.14	.	3.4116	0.07360	0.3804:0.0:0.4439:0.1757	.	313	Q9H343	O51I1_HUMAN	E	310;313	ENSP00000369559:Q313E	ENSP00000439622:Q310E	Q	-	1	0	OR51I1	5418384	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	0.021000	0.13489	0.055000	0.16094	0.644000	0.83932	CAG		0.463	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		7	34	0	0	0	0	7	34				
KCNC1	3746	broad.mit.edu	37	11	17793574	17793574	+	Silent	SNP	C	C	T	rs76882721	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:17793574C>T	ENST00000379472.3	+	2	963	c.933C>T	c.(931-933)cgC>cgT	p.R311R	KCNC1_ENST00000265969.6_Silent_p.R311R	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	311					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCTTCCTGCGCGTCGTCCGCT	0.627													C|||	13	0.00259585	0.0083	0.0029	5008	,	,		17033	0.0		0.0	False		,,,				2504	0.0					uc001mnk.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(931-933)CGC>CGT		Shaw-related voltage-gated potassium channel		C	,	23,4377	29.9+/-59.1	0,23,2177	82.0	73.0	76.0		933,933	-4.7	1.0	11	dbSNP_132	76	2,8584	2.2+/-6.3	0,2,4291	no	coding-synonymous,coding-synonymous	KCNC1	NM_001112741.1,NM_004976.4	,	0,25,6468	TT,TC,CC		0.0233,0.5227,0.1925	,	311/586,311/512	17793574	25,12961	2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793574C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.933C>T	11.37:g.17793574C>T						KCNC1_uc009yhc.1_Silent_p.R311R	p.R311R	NM_004976	NP_004967	P48547	KCNC1_HUMAN			2	988	+			311			Helical; Voltage-sensor; Name=Segment S4; (Potential).		K4DI87	Silent	SNP	ENST00000379472.3	37	c.933C>T	CCDS7827.1																																																																																				0.627	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		3	19	0	0	0	0	3	19				
HTATIP2	10553	broad.mit.edu	37	11	20404742	20404742	+	Silent	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:20404742C>G	ENST00000451739.2	+	5	1161	c.720C>G	c.(718-720)ctC>ctG	p.L240L	HTATIP2_ENST00000419348.2_Silent_p.L274L|HTATIP2_ENST00000443524.2_Silent_p.L240L|HTATIP2_ENST00000531058.1_Silent_p.L194L|HTATIP2_ENST00000421577.2_Silent_p.L240L	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ATGGCTCTCTCAAGCCATGAC	0.443																																						uc009yia.1		NA																	0					0						c.(718-720)CTC>CTG		HIV-1 Tat interactive protein 2, 30kDa isoform							71.0	59.0	63.0					11																	20404742		2203	4300	6503	SO:0001819	synonymous_variant	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20404742C>G	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.720C>G	11.37:g.20404742C>G						HTATIP2_uc009yib.1_Silent_p.L240L|HTATIP2_uc001mpx.2_Silent_p.L274L|HTATIP2_uc001mpz.2_Silent_p.L240L	p.L240L	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN			6	786	+			240						Silent	SNP	ENST00000451739.2	37	c.720C>G	CCDS7852.1																																																																																				0.443	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		4	5	0	0	0	0	4	5				
OR8H3	390152	broad.mit.edu	37	11	55890111	55890111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:55890111C>T	ENST00000313472.3	+	1	263	c.263C>T	c.(262-264)aCt>aTt	p.T88I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AACTTACTGACTTCCAACTAT	0.423																																						uc001nii.1		NA																	0				ovary(2)	2						c.(262-264)ACT>ATT		olfactory receptor, family 8, subfamily H,							326.0	319.0	321.0					11																	55890111		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890111C>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.263C>T	11.37:g.55890111C>T	ENSP00000323928:p.Thr88Ile						p.T88I	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	263	+	Esophageal squamous(21;0.00693)		88			Extracellular (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.263C>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	8.910	0.958556	0.18507	.	.	ENSG00000181761	ENST00000313472	T	0.01347	4.99	3.44	-0.226	0.13106	GPCR, rhodopsin-like superfamily (1);	0.115721	0.39834	N	0.001257	T	0.03695	0.0105	M	0.70595	2.14	0.09310	N	1	D	0.62365	0.991	D	0.63703	0.917	T	0.38824	-0.9643	10	0.30854	T	0.27	.	2.0414	0.03551	0.4177:0.2208:0.2591:0.1024	.	88	Q8N146	OR8H3_HUMAN	I	88	ENSP00000323928:T88I	ENSP00000323928:T88I	T	+	2	0	OR8H3	55646687	0.000000	0.05858	0.296000	0.24974	0.269000	0.26545	-0.697000	0.05098	0.070000	0.16634	0.173000	0.16961	ACT		0.423	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		69	290	0	0	0	0	69	290				
PGA5	5222	broad.mit.edu	37	11	61018663	61018663	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr11:61018663G>T	ENST00000312403.5	+	9	1262	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	PGA5_ENST00000541528.1_Missense_Mutation_p.E99D|CTD-2331C18.5_ENST00000537594.1_RNA|PGA4_ENST00000422676.2_Missense_Mutation_p.E359D|PGA5_ENST00000451616.2_Missense_Mutation_p.E205D	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	359					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						AATCTGGAGAGCTTTGGATCC	0.552																																						uc001nqz.2		NA																	0				skin(1)	1						c.(1075-1077)GAG>GAT		pepsinogen 5, group I precursor							147.0	140.0	142.0					11																	61018663		2202	4299	6501	SO:0001583	missense	5222				digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr11:61018663G>T	BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.1077G>T	11.37:g.61018663G>T	ENSP00000309542:p.Glu359Asp						p.E359D	NM_014224	NP_055039	P00790	PEPA_HUMAN			9	1107	+			359					A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	ENST00000312403.5	37	c.1077G>T	CCDS8001.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892621	0.33442	.	.	ENSG00000229183;ENSG00000256713;ENSG00000256713;ENSG00000256713;ENSG00000256713	ENST00000422676;ENST00000312403;ENST00000544083;ENST00000451616;ENST00000541528	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	2.78	-5.43	0.02632	.	0.485574	0.18956	N	0.126536	T	0.29620	0.0739	N	0.20881	0.62	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05131	-1.0904	10	0.35671	T	0.21	.	1.5045	0.02484	0.1714:0.341:0.2506:0.237	.	359	B7ZW62	.	D	359;359;220;205;99	ENSP00000395402:E359D;ENSP00000309542:E359D;ENSP00000408739:E205D;ENSP00000441981:E99D	ENSP00000395402:E359D	E	+	3	2	PGA4;PGA5	60775239	0.602000	0.26916	0.000000	0.03702	0.746000	0.42486	-0.246000	0.08878	-1.293000	0.02362	0.420000	0.28162	GAG		0.552	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397972.1	NM_014224		31	139	1	0	4.63e-21	5.2e-21	31	139				
OR9K2	441639	broad.mit.edu	37	12	55523868	55523868	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:55523868G>T	ENST00000305377.5	+	1	404	c.316G>T	c.(316-318)Gct>Tct	p.A106S		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGAACCCAAGGCTATGATCAA	0.423																																						uc010spe.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(316-318)GCT>TCT		olfactory receptor, family 9, subfamily K,							142.0	143.0	142.0					12																	55523868		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55523868G>T	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.316G>T	12.37:g.55523868G>T	ENSP00000307598:p.Ala106Ser						p.A106S	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	316	+			106			Extracellular (Potential).		B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.316G>T	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595606	0.66219	.	.	ENSG00000170605	ENST00000305377	T	0.00402	7.56	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000123	T	0.00754	0.0025	L	0.28694	0.88	0.32683	N	0.515241	D	0.89917	1.0	D	0.91635	0.999	T	0.71738	-0.4502	10	0.87932	D	0	-28.2673	18.4253	0.90607	0.0:0.0:1.0:0.0	.	106	Q8NGE7	OR9K2_HUMAN	S	106	ENSP00000307598:A106S	ENSP00000307598:A106S	A	+	1	0	OR9K2	53810135	0.000000	0.05858	0.995000	0.50966	0.945000	0.59286	0.112000	0.15479	2.753000	0.94483	0.650000	0.86243	GCT		0.423	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			19	70	1	0	2.35e-11	2.57e-11	19	70				
ORAI1	84876	broad.mit.edu	37	12	122079507	122079507	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:122079507C>G	ENST00000330079.7	+	2	1063	c.870C>G	c.(868-870)caC>caG	p.H290Q		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	288	Interaction with STIM1.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		AGCTGGACCACAGAGGGGACC	0.612																																						uc010szz.1		NA																	0					0						c.(862-864)CAC>CAG		calcium release-activated calcium channel							56.0	62.0	60.0					12																	122079507		2064	4212	6276	SO:0001583	missense	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079507C>G	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.870C>G	12.37:g.122079507C>G	ENSP00000328216:p.His290Gln						p.H288Q	NM_032790	NP_116179	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	3	1057	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		288			Cytoplasmic (Potential).		Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	ENST00000330079.7	37	c.864C>G	CCDS41851.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651833	0.47362	.	.	ENSG00000182500	ENST00000330079	T	0.30981	1.51	5.29	3.43	0.39272	.	0.179251	0.64402	D	0.000013	T	0.20941	0.0504	N	0.08118	0	0.80722	D	1	D	0.60575	0.988	P	0.51657	0.676	T	0.02365	-1.1170	10	0.10636	T	0.68	-37.4785	12.4355	0.55596	0.0:0.855:0.0:0.145	.	288	Q96D31	CRCM1_HUMAN	Q	290	ENSP00000328216:H290Q	ENSP00000328216:H290Q	H	+	3	2	ORAI1	120563890	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.583000	0.60964	1.358000	0.45922	0.467000	0.42956	CAC		0.612	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		19	62	0	0	0	0	19	62				
DGKH	160851	broad.mit.edu	37	13	42761205	42761205	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr13:42761205A>C	ENST00000337343.4	+	14	1580	c.1559A>C	c.(1558-1560)aAg>aCg	p.K520T	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.K275T|DGKH_ENST00000540693.1_Missense_Mutation_p.K520T|DGKH_ENST00000536612.1_Missense_Mutation_p.K384T|DGKH_ENST00000261491.5_Missense_Mutation_p.K520T|DGKH_ENST00000379274.2_Missense_Mutation_p.K384T	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	520					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAAACTGTAAAGGACTTCGTT	0.373																																						uc001uyl.1		NA																	0				ovary(2)	2						c.(1558-1560)AAG>ACG		diacylglycerol kinase, eta isoform 2							114.0	123.0	120.0					13																	42761205		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42761205A>C	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1559A>C	13.37:g.42761205A>C	ENSP00000337572:p.Lys520Thr					DGKH_uc010tfh.1_Missense_Mutation_p.K520T|DGKH_uc001uym.1_Missense_Mutation_p.K520T|DGKH_uc010tfi.1_Missense_Mutation_p.K275T|DGKH_uc010tfj.1_Missense_Mutation_p.K375T|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.K375T|DGKH_uc001uyp.2_RNA	p.K520T	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	14	1580	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	520					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1559A>C	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155092	0.57259	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;T;D;T;T;T	0.81499	-1.5;-1.33;-1.5;-1.49;-1.49;1.74	5.67	3.24	0.37175	.	0.049848	0.85682	D	0.000000	D	0.84479	0.5481	M	0.79123	2.44	0.49213	D	0.999768	B;P;B;B	0.35959	0.387;0.53;0.342;0.388	B;P;B;B	0.48227	0.268;0.571;0.202;0.342	T	0.82464	-0.0444	10	0.62326	D	0.03	.	9.2349	0.37459	0.8458:0.0:0.1542:0.0	.	275;384;520;520	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	T	520;520;520;384;384;275	ENSP00000440823:K520T;ENSP00000337572:K520T;ENSP00000261491:K520T;ENSP00000368576:K384T;ENSP00000445114:K384T;ENSP00000441308:K275T	ENSP00000261491:K520T	K	+	2	0	DGKH	41659205	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	4.449000	0.60034	0.411000	0.25702	-0.274000	0.10170	AAG		0.373	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		14	51	0	0	0	0	14	51				
NRXN3	9369	broad.mit.edu	37	14	80164200	80164200	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr14:80164200A>C	ENST00000557594.1	+	4	1782	c.829A>C	c.(829-831)Atg>Ctg	p.M277L	RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Missense_Mutation_p.M909L|NRXN3_ENST00000281127.7_Missense_Mutation_p.M277L|NRXN3_ENST00000335750.5_Missense_Mutation_p.M909L|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.M307L	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	277					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCCACCAGAAATGTCTACTAC	0.453																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2725-2727)ATG>CTG		neurexin 3 isoform 1 precursor							122.0	101.0	108.0					14																	80164200		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:80164200A>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.829A>C	14.37:g.80164200A>C	ENSP00000451672:p.Met277Leu					NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.M277L|NRXN3_uc010asw.2_Missense_Mutation_p.M307L|NRXN3_uc001xur.3_Missense_Mutation_p.M277L	p.M909L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	15	3216	+		Renal(4;0.00876)	1282			Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.2725A>C		.	.	.	.	.	.	.	.	.	.	A	16.29	3.081884	0.55861	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.66280	-0.2;-0.2;1.33;1.56;1.31	5.82	5.82	0.92795	.	0.046082	0.85682	D	0.000000	T	0.69744	0.3145	L	0.60455	1.87	0.53005	D	0.999961	B;B;P;B	0.36909	0.097;0.182;0.573;0.09	B;B;P;B	0.48400	0.138;0.267;0.576;0.061	T	0.67142	-0.5745	9	.	.	.	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	307;277;277;909	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	L	1282;1301;909;909;277;277;307	ENSP00000451648:M909L;ENSP00000338349:M909L;ENSP00000451672:M277L;ENSP00000281127:M277L;ENSP00000394426:M307L	.	M	+	1	0	NRXN3	79233953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.222000	0.72286	0.455000	0.32223	ATG		0.453	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		8	47	0	0	0	0	8	47				
HERC2	8924	broad.mit.edu	37	15	28517376	28517376	+	Silent	SNP	G	G	A	rs141677977		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:28517376G>A	ENST00000261609.7	-	9	1176	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTCGCCCTCGGAGTGGGGTG	0.527																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(1066-1068)TCC>TCT		hect domain and RLD 2		G		1,4405	2.1+/-5.4	0,1,2202	79.0	64.0	69.0		1068	-10.5	0.0	15	dbSNP_134	69	6,8594	4.3+/-15.6	0,6,4294	no	coding-synonymous	HERC2	NM_004667.4		0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538		356/4835	28517376	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28517376G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1068C>T	15.37:g.28517376G>A						HERC2_uc001zbl.1_Silent_p.S51S	p.S356S	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	9	1174	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	356						Silent	SNP	ENST00000261609.7	37	c.1068C>T	CCDS10021.1																																																																																				0.527	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		3	24	0	0	0	0	3	24				
UBR1	197131	broad.mit.edu	37	15	43330042	43330042	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:43330042G>A	ENST00000290650.4	-	17	2029	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	UBR1_ENST00000382177.2_Missense_Mutation_p.R651C	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	651					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCAGACAACGTAAAGGATAT	0.393																																						uc001zqq.2		NA																	0				lung(1)	1						c.(1951-1953)CGT>TGT		ubiquitin protein ligase E3 component n-recognin							95.0	78.0	84.0					15																	43330042		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43330042G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1951C>T	15.37:g.43330042G>A	ENSP00000290650:p.Arg651Cys					UBR1_uc010udk.1_Missense_Mutation_p.R651C	p.R651C	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	17	2017	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	651					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.1951C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245516	0.80024	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.50001	0.76;0.76	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.79108	0.781;0.992	T	0.63849	-0.6544	10	0.56958	D	0.05	-14.4505	13.6193	0.62128	0.0:0.0:0.8451:0.1549	.	651;651	B4DYL2;Q8IWV7	.;UBR1_HUMAN	C	651	ENSP00000290650:R651C;ENSP00000371612:R651C	ENSP00000290650:R651C	R	-	1	0	UBR1	41117334	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.827000	0.62723	2.712000	0.92718	0.563000	0.77884	CGT		0.393	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		4	22	0	0	0	0	4	22				
ITGA11	22801	broad.mit.edu	37	15	68624774	68624774	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:68624774C>T	ENST00000315757.7	-	13	1554	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	ITGA11_ENST00000423218.2_Missense_Mutation_p.D490N	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	490					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CCGTCGCCGTCGATGTCCACC	0.602																																						uc002ari.2		NA																	0				kidney(2)|pancreas(1)	3						c.(1468-1470)GAC>AAC		integrin, alpha 11 precursor	Tirofiban(DB00775)						54.0	56.0	56.0					15																	68624774		2111	4208	6319	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68624774C>T	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1468G>A	15.37:g.68624774C>T	ENSP00000327290:p.Asp490Asn					ITGA11_uc010bib.2_Missense_Mutation_p.D490N	p.D490N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			13	1555	-			490			FG-GAP 5.|Potential.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.1468G>A	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753123	0.15778	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	T;T	0.68181	-0.31;-0.31	5.01	2.06	0.26882	.	0.189966	0.53938	N	0.000042	T	0.38026	0.1025	N	0.04162	-0.26	0.19575	N	0.999961	B;B	0.29531	0.247;0.027	B;B	0.31191	0.125;0.035	T	0.24870	-1.0148	10	0.18710	T	0.47	.	7.4708	0.27347	0.0:0.6249:0.0:0.3751	.	490;490	A8K8T0;Q9UKX5	.;ITA11_HUMAN	N	490;490;125;490	ENSP00000327290:D490N;ENSP00000403392:D490N	ENSP00000327290:D490N	D	-	1	0	ITGA11	66411828	0.519000	0.26242	0.003000	0.11579	0.010000	0.07245	1.125000	0.31332	0.490000	0.27771	-0.254000	0.11334	GAC		0.602	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		6	9	0	0	0	0	6	9				
C15orf27	123591	broad.mit.edu	37	15	76496314	76496314	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:76496314G>A	ENST00000388942.3	+	11	1530	c.1254G>A	c.(1252-1254)ccG>ccA	p.P418P		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	418					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GCGAGGAGCCGTCCTCTGAGC	0.701																																						uc002bbq.2		NA																	0					0						c.(1252-1254)CCG>CCA		hypothetical protein LOC123591							22.0	24.0	23.0					15																	76496314		2197	4292	6489	SO:0001819	synonymous_variant	123591					integral to membrane		g.chr15:76496314G>A	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.1254G>A	15.37:g.76496314G>A						C15orf27_uc010bkp.2_Silent_p.P234P|C15orf27_uc002bbr.2_Silent_p.P234P|C15orf27_uc002bbs.2_Silent_p.P96P	p.P418P	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			11	1409	+			418					Q8N993|Q96LL5	Silent	SNP	ENST00000388942.3	37	c.1254G>A	CCDS10289.2																																																																																				0.701	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		10	28	0	0	0	0	10	28				
SCAPER	49855	broad.mit.edu	37	15	76957999	76957999	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:76957999G>C	ENST00000563290.1	-	21	2735	c.2640C>G	c.(2638-2640)aaC>aaG	p.N880K	SCAPER_ENST00000324767.7_Missense_Mutation_p.N880K|SCAPER_ENST00000538941.2_Missense_Mutation_p.N634K			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	880						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGTACCTGAAGTTCATCCGGG	0.328																																						uc002bby.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2638-2640)AAC>AAG		S-phase cyclin A-associated protein in the ER							74.0	67.0	69.0					15																	76957999		1791	4056	5847	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76957999G>C	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2640C>G	15.37:g.76957999G>C	ENSP00000454973:p.Asn880Lys					SCAPER_uc010bkr.2_Missense_Mutation_p.N188K|SCAPER_uc002bbx.2_Missense_Mutation_p.N634K|SCAPER_uc002bbz.1_Missense_Mutation_p.N751K|SCAPER_uc002bca.1_Missense_Mutation_p.N745K	p.N880K	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			20	2699	-			879					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.2640C>G	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536389	0.27475	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.23552	1.92;1.9	5.93	0.943	0.19531	.	0.000000	0.85682	D	0.000000	T	0.21427	0.0516	L	0.59436	1.845	0.48762	D	0.999706	B;B	0.32350	0.224;0.366	B;B	0.34093	0.058;0.175	T	0.06463	-1.0825	10	0.10636	T	0.68	.	10.5538	0.45105	0.3842:0.0:0.6158:0.0	.	879;634	Q9BY12;F5H7X8	SCAPE_HUMAN;.	K	880;634;902	ENSP00000326924:N880K;ENSP00000442190:N634K	ENSP00000303560:N902K	N	-	3	2	SCAPER	74745054	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	2.250000	0.43178	0.137000	0.18759	-0.229000	0.12294	AAC		0.328	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		2	3	0	0	0	0	2	3				
IL16	3603	broad.mit.edu	37	15	81598782	81598782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:81598782C>T	ENST00000302987.4	+	17	3701	c.3701C>T	c.(3700-3702)aCg>aTg	p.T1234M	IL16_ENST00000394660.2_Missense_Mutation_p.T1233M|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.T533M			Q14005	IL16_HUMAN	interleukin 16	1234	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACAGTCTGCACGGTGACACTG	0.577																																						uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(3700-3702)ACG>ATG		interleukin 16 isoform 2							127.0	127.0	127.0					15																	81598782		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598782C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3701C>T	15.37:g.81598782C>T	ENSP00000302935:p.Thr1234Met					IL16_uc010blq.1_Missense_Mutation_p.T1188M|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.T1275M|IL16_uc002bgg.2_Missense_Mutation_p.T1233M|IL16_uc002bgi.1_Missense_Mutation_p.T623M|IL16_uc002bgj.2_Missense_Mutation_p.T727M|IL16_uc002bgk.2_Missense_Mutation_p.T533M|IL16_uc002bgl.1_Missense_Mutation_p.T533M|IL16_uc010unq.1_Missense_Mutation_p.T532M	p.T1234M	NM_172217	NP_757366	Q14005	IL16_HUMAN			18	4077	+			1234			PDZ 4.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3701C>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229002	0.39399	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.41758	0.99;0.99;0.99	4.2	3.25	0.37280	PDZ/DHR/GLGF (2);	0.154393	0.30311	N	0.009919	T	0.62307	0.2417	M	0.89601	3.045	0.43814	D	0.996374	P;P;D;P;B	0.89917	0.684;0.933;1.0;0.668;0.356	B;P;D;B;B	0.63957	0.28;0.727;0.92;0.402;0.182	T	0.63585	-0.6604	10	0.52906	T	0.07	.	5.6421	0.17569	0.0:0.6603:0.1691:0.1706	.	1065;726;623;1234;1233	F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2	.;.;.;IL16_HUMAN;.	M	1233;1065;1234;623;533;532	ENSP00000378155:T1233M;ENSP00000302935:T1234M;ENSP00000378147:T533M	ENSP00000302935:T1234M	T	+	2	0	IL16	79385837	0.893000	0.30496	0.891000	0.34965	0.785000	0.44390	1.772000	0.38552	1.058000	0.40530	0.561000	0.74099	ACG		0.577	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		5	100	0	0	0	0	5	100				
C15orf32	145858	broad.mit.edu	37	15	93016181	93016181	+	Splice_Site	SNP	A	A	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr15:93016181A>G	ENST00000333334.2	+	2	869		c.e2-1		RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Splice_Site	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32											endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGTTTTCCACAGACACATCCT	0.493																																						uc002brc.1		NA																	0				ovary(1)	1						c.e2-2		hypothetical protein LOC145858							120.0	108.0	112.0					15																	93016181		2198	4298	6496	SO:0001630	splice_region_variant	145858							g.chr15:93016181A>G		CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.375-1A>G	15.37:g.93016181A>G						C15orf32_uc010bod.1_Splice_Site	p.R125_splice	NM_153040	NP_694585	Q32M92	CO032_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		2	847	+	Lung NSC(78;0.0893)|all_lung(78;0.125)							C5HTZ8|Q96M45	Splice_Site	SNP	ENST00000333334.2	37	c.375_splice	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	A	2.127	-0.400089	0.04865	.	.	ENSG00000183643	ENST00000333334	.	.	.	2.25	-0.783	0.10958	.	.	.	.	.	.	.	.	.	.	.	0.22142	N	0.999339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1384	0.14947	0.4815:0.0:0.5185:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf32	90817185	0.003000	0.15002	0.001000	0.08648	0.042000	0.13812	0.042000	0.13949	-0.206000	0.10203	-0.415000	0.06103	.		0.493	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040	Intron	21	68	0	0	0	0	21	68				
MTSS1L	92154	broad.mit.edu	37	16	70712271	70712271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr16:70712271C>T	ENST00000338779.6	-	8	782	c.508G>A	c.(508-510)Gac>Aac	p.D170N		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	170	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCGTTGACGTCCTGCAGGGCA	0.662																																						uc002ezj.2		NA																	0				central_nervous_system(1)	1						c.(508-510)GAC>AAC		metastasis suppressor 1-like							46.0	48.0	48.0					16																	70712271		2198	4300	6498	SO:0001583	missense	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70712271C>T		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.508G>A	16.37:g.70712271C>T	ENSP00000341171:p.Asp170Asn					MTSS1L_uc002ezk.1_Missense_Mutation_p.D87N	p.D170N	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN			8	768	-			170			IMD.		A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	c.508G>A	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	C	36	5.641052	0.96693	.	.	ENSG00000132613	ENST00000254951;ENST00000338779	T	0.35605	1.3	4.88	4.88	0.63580	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	M	0.85710	2.77	0.80722	D	1	D;D	0.61080	0.959;0.989	P;D	0.65233	0.722;0.933	T	0.64241	-0.6454	10	0.30078	T	0.28	-24.6218	18.0651	0.89388	0.0:1.0:0.0:0.0	.	167;170	Q765P7-2;Q765P7	.;MTSSL_HUMAN	N	167;170	ENSP00000341171:D170N	ENSP00000254951:D167N	D	-	1	0	MTSS1L	69269772	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.702000	0.84576	2.278000	0.76064	0.561000	0.74099	GAC		0.662	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		12	46	0	0	0	0	12	46				
CHST6	4166	broad.mit.edu	37	16	75512907	75512907	+	Missense_Mutation	SNP	C	C	T	rs72547538		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr16:75512907C>T	ENST00000332272.4	-	3	999	c.820G>A	c.(820-822)Gag>Aag	p.E274K	CHST6_ENST00000390664.2_Missense_Mutation_p.E274K|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	274			E -> K (in MCDC1; abolishes ability to sulfate keratan). {ECO:0000269|PubMed:11017086, ECO:0000269|PubMed:12218059, ECO:0000269|PubMed:14609920}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCAGGTCCTCGAAGCGCACC	0.672																																						uc002fef.2		NA																	0					0	GRCh37	CM002587	CHST6	M	rs72547538	c.(820-822)GAG>AAG		carbohydrate (N-acetylglucosamine 6-O)							33.0	37.0	36.0					16																	75512907		2194	4291	6485	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512907C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.820G>A	16.37:g.75512907C>T	ENSP00000328983:p.Glu274Lys					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.E274K	p.E274K	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	1000	-			274		E -> K (in MCD; abolishes ability to sulfate keratan).	Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.820G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261442	0.95368	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99908	-7.82;-7.82	4.89	4.89	0.63831	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95902	0.8916	10	0.66056	D	0.02	.	15.5373	0.76013	0.0:1.0:0.0:0.0	.	274	Q9GZX3	CHST6_HUMAN	K	274	ENSP00000328983:E274K;ENSP00000375079:E274K	ENSP00000328983:E274K	E	-	1	0	CHST6	74070408	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.719000	0.84751	2.273000	0.75805	0.591000	0.81541	GAG		0.672	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		5	60	0	0	0	0	5	60				
CNTNAP4	85445	broad.mit.edu	37	16	76513352	76513352	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr16:76513352G>A	ENST00000476707.1	+	11	1947	c.1808G>A	c.(1807-1809)aGa>aAa	p.R603K	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.R599K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R551K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R527K			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	600	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TATAAGCACAGAGGAAATACT	0.343																																						uc002feu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1798-1800)AGA>AAA		cell recognition protein CASPR4 isoform 1							121.0	130.0	127.0					16																	76513352		2198	4298	6496	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76513352G>A	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1808G>A	16.37:g.76513352G>A	ENSP00000417628:p.Arg603Lys					CNTNAP4_uc002fev.1_Missense_Mutation_p.R464K|CNTNAP4_uc010chb.1_Missense_Mutation_p.R527K|CNTNAP4_uc002fex.1_Missense_Mutation_p.R603K|CNTNAP4_uc002few.2_Missense_Mutation_p.R575K	p.R600K	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			14	2184	+			600			Extracellular (Potential).|Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1799G>A		.	.	.	.	.	.	.	.	.	.	G	4.518	0.096183	0.08681	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.57	-0.012	0.13990	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);	0.362286	0.19669	N	0.108792	T	0.03739	0.0106	.	.	.	0.24281	N	0.995205	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.002;0.001;0.003	T	0.45323	-0.9269	9	0.02654	T	1	.	9.5856	0.39514	0.4386:0.0:0.5614:0.0	.	527;603;575;600	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	K	599;551;527;603	ENSP00000306893:R599K;ENSP00000439733:R551K;ENSP00000418741:R527K;ENSP00000417628:R603K	ENSP00000306893:R599K	R	+	2	0	CNTNAP4	75070853	0.847000	0.29606	0.972000	0.41901	0.898000	0.52572	-0.044000	0.12023	-0.091000	0.12440	-0.157000	0.13467	AGA		0.343	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		16	81	0	0	0	0	16	81				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	21	0	0	0	0	26	21				
TAOK1	57551	broad.mit.edu	37	17	27849481	27849481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:27849481C>T	ENST00000261716.3	+	17	2611	c.2092C>T	c.(2092-2094)Cga>Tga	p.R698*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	698					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GCGAAGAGAACGAGAACTAAG	0.428																																						uc002hdz.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2092-2094)CGA>TGA		TAO kinase 1							115.0	108.0	110.0					17																	27849481		2203	4300	6503	SO:0001587	stop_gained	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27849481C>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2092C>T	17.37:g.27849481C>T	ENSP00000261716:p.Arg698*					TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Nonsense_Mutation_p.R698*	p.R698*	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		17	2286	+			698					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	ENST00000261716.3	37	c.2092C>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	45	11.588557	0.99580	.	.	ENSG00000160551	ENST00000261716	.	.	.	5.96	3.9	0.45041	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2087	0.73202	0.2574:0.7426:0.0:0.0	.	.	.	.	X	698	.	ENSP00000261716:R698X	R	+	1	2	TAOK1	24873607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.525000	0.35953	0.789000	0.33779	0.643000	0.83706	CGA		0.428	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		12	48	0	0	0	0	12	48				
KRT24	192666	broad.mit.edu	37	17	38855898	38855898	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:38855898C>T	ENST00000264651.2	-	6	1215	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	387	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GCCAGGGTTCCCTCCAGGGAG	0.423																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.2		NA																	0					0						c.(1159-1161)GGA>AGA		keratin 24							54.0	55.0	55.0					17																	38855898		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38855898C>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1159G>A	17.37:g.38855898C>T	ENSP00000264651:p.Gly387Arg						p.G387R	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			6	1216	-		Breast(137;0.00526)	387			Rod.|Coil 2.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.1159G>A	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763053	0.49574	.	.	ENSG00000167916	ENST00000264651	D	0.87412	-2.25	5.34	2.26	0.28386	Filament (1);	.	.	.	.	T	0.79364	0.4433	L	0.35854	1.095	0.30646	N	0.755905	B	0.17038	0.02	B	0.19946	0.027	T	0.70894	-0.4748	9	0.46703	T	0.11	.	5.7423	0.18100	0.2749:0.5818:0.0:0.1433	.	387	Q2M2I5	K1C24_HUMAN	R	387	ENSP00000264651:G387R	ENSP00000264651:G387R	G	-	1	0	KRT24	36109424	0.046000	0.20272	0.720000	0.30636	0.980000	0.70556	1.118000	0.31246	0.240000	0.21263	0.591000	0.81541	GGA		0.423	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		29	55	0	0	0	0	29	55				
KIF19	124602	broad.mit.edu	37	17	72322500	72322500	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:72322500C>T	ENST00000389916.4	+	1	150	c.12C>T	c.(10-12)agC>agT	p.S4S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	4					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGAAGGACAGCGGGGACTCCA	0.672																																						uc002jkm.3		NA																	0					0						c.(10-12)AGC>AGT		kinesin family member 19							129.0	108.0	115.0					17																	72322500		2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72322500C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.12C>T	17.37:g.72322500C>T						KIF19_uc002jkj.2_Silent_p.S4S|KIF19_uc002jkk.2_Silent_p.S4S|KIF19_uc002jkl.2_Silent_p.S4S	p.S4S	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN			1	150	+			4					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.12C>T	CCDS32718.2																																																																																				0.672	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		11	51	0	0	0	0	11	51				
CCDC40	55036	broad.mit.edu	37	17	78073373	78073373	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:78073373G>A	ENST00000397545.4	+	20	3255	c.3228G>A	c.(3226-3228)caG>caA	p.Q1076Q	GAA_ENST00000302262.3_5'Flank|GAA_ENST00000390015.3_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1076					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCACCTGCAGGCTGTGAAGG	0.572																																						uc010dht.2		NA																	0				ovary(3)	3						c.(3226-3228)CAG>CAA		coiled-coil domain containing 40							53.0	61.0	58.0					17																	78073373		1989	4176	6165	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78073373G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.3228G>A	17.37:g.78073373G>A						CCDC40_uc002jxm.3_Silent_p.Q859Q|CCDC40_uc002jxn.3_Silent_p.Q472Q|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank	p.Q1076Q	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		20	3255	+	all_neural(118;0.167)		1076					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.3228G>A	CCDS42395.1																																																																																				0.572	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		13	41	0	0	0	0	13	41				
TMEM161A	54929	broad.mit.edu	37	19	19231608	19231608	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:19231608G>A	ENST00000162044.9	-	11	1216	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	TMEM161A_ENST00000450333.2_Silent_p.L281L|TMEM161A_ENST00000587583.2_Silent_p.L359L	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	384					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGTTGAGGGTGAGGATGAGCG	0.612																																						uc002nlg.2		NA																	0				breast(2)	2						c.(1150-1152)CTC>CTT		transmembrane protein 161A precursor							100.0	85.0	90.0					19																	19231608		2203	4300	6503	SO:0001819	synonymous_variant	54929				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		g.chr19:19231608G>A	BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.1152C>T	19.37:g.19231608G>A						TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Silent_p.L359L|TMEM161A_uc002nli.2_Silent_p.L281L|TMEM161A_uc002nlj.2_Silent_p.L259L	p.L384L	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)		11	1182	-			384			Helical; (Potential).		B3KUE0|G5E9M6|Q7L2Y1	Silent	SNP	ENST00000162044.9	37	c.1152C>T	CCDS12393.1																																																																																				0.612	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460089.2	NM_017814		7	46	0	0	0	0	7	46				
ZNF493	284443	broad.mit.edu	37	19	21607093	21607093	+	Silent	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:21607093C>A	ENST00000355504.4	+	2	1514	c.1248C>A	c.(1246-1248)ccC>ccA	p.P416P	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.P544P	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAGAAAAACCCTACAAATGTG	0.358																																						uc002npx.2		NA																	0				ovary(1)	1						c.(1246-1248)CCC>CCA		zinc finger protein 493 isoform 1							43.0	45.0	45.0					19																	21607093		2202	4298	6500	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607093C>A	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1248C>A	19.37:g.21607093C>A						ZNF493_uc002npw.2_Silent_p.P544P|ZNF493_uc002npy.2_Silent_p.P416P	p.P416P	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	1528	+			416					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1248C>A	CCDS12412.1																																																																																				0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		4	11	1	0	0.00909568	0.00939147	4	11				
RYR1	6261	broad.mit.edu	37	19	38948883	38948883	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:38948883C>T	ENST00000359596.3	+	18	2118	c.2118C>T	c.(2116-2118)gtC>gtT	p.V706V	RYR1_ENST00000360985.3_Silent_p.V706V|RYR1_ENST00000355481.4_Silent_p.V706V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	706	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCAACGGGGTCGGCGATGACC	0.657																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(2116-2118)GTC>GTT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						69.0	65.0	67.0					19																	38948883		2203	4297	6500	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38948883C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2118C>T	19.37:g.38948883C>T						RYR1_uc002oiu.2_Silent_p.V706V	p.V706V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	2248	+	all_cancers(60;7.91e-06)		706			Cytoplasmic.|B30.2/SPRY 1.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2118C>T	CCDS33011.1																																																																																				0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			24	51	0	0	0	0	24	51				
KPTN	11133	broad.mit.edu	37	19	47984035	47984035	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:47984035A>G	ENST00000338134.3	-	6	688	c.581T>C	c.(580-582)cTg>cCg	p.L194P	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	194					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CAGGTTCGTCAGCTCTGGGAA	0.587																																						uc002pgy.2		NA																	0				ovary(1)	1						c.(580-582)CTG>CCG		kaptin (actin binding protein)							141.0	145.0	143.0					19																	47984035		1929	4121	6050	SO:0001583	missense	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47984035A>G	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.581T>C	19.37:g.47984035A>G	ENSP00000337850:p.Leu194Pro					KPTN_uc010xys.1_RNA	p.L194P	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	6	685	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	194					B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	c.581T>C	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637392	0.87760	.	.	ENSG00000118162	ENST00000338134	T	0.52983	0.64	5.44	5.44	0.79542	.	0.069731	0.64402	D	0.000015	T	0.61899	0.2384	M	0.78801	2.425	0.80722	D	1	D	0.56968	0.978	P	0.52957	0.714	T	0.68522	-0.5386	10	0.87932	D	0	.	14.5	0.67714	1.0:0.0:0.0:0.0	.	194	Q9Y664	KPTN_HUMAN	P	194	ENSP00000337850:L194P	ENSP00000337850:L194P	L	-	2	0	KPTN	52675847	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.782000	0.85680	2.066000	0.61787	0.370000	0.22315	CTG		0.587	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			25	101	0	0	0	0	25	101				
DBP	1628	broad.mit.edu	37	19	49134221	49134221	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:49134221G>A	ENST00000222122.5	-	4	1294	c.851C>T	c.(850-852)tCg>tTg	p.S284L	DBP_ENST00000593500.1_Missense_Mutation_p.S82L|DBP_ENST00000599385.1_Missense_Mutation_p.S82L	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	284	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CGCCCGCACCGATATCTGGTT	0.647																																						uc002pjx.3		NA																	0					0						c.(850-852)TCG>TTG		D site of albumin promoter (albumin D-box)							27.0	29.0	28.0					19																	49134221		2203	4300	6503	SO:0001583	missense	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49134221G>A	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.851C>T	19.37:g.49134221G>A	ENSP00000222122:p.Ser284Leu					DBP_uc002pjy.2_3'UTR	p.S284L	NM_001352	NP_001343	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	4	1239	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	284					A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	c.851C>T	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927764	0.92389	.	.	ENSG00000105516	ENST00000222122	T	0.41400	1.0	4.81	4.81	0.61882	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.080703	0.52532	U	0.000071	T	0.41166	0.1147	L	0.29908	0.895	0.45194	D	0.998209	P	0.44044	0.825	P	0.46940	0.532	T	0.42832	-0.9428	10	0.87932	D	0	-18.5594	15.7386	0.77866	0.0:0.0:1.0:0.0	.	284	Q10586	DBP_HUMAN	L	284	ENSP00000222122:S284L	ENSP00000222122:S284L	S	-	2	0	DBP	53826033	1.000000	0.71417	0.100000	0.21137	0.984000	0.73092	9.415000	0.97375	2.364000	0.80123	0.563000	0.77884	TCG		0.647	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		3	8	0	0	0	0	3	8				
PPP2R1A	5518	broad.mit.edu	37	19	52722988	52722988	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:52722988G>A	ENST00000322088.6	+	10	1231	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	PPP2R1A_ENST00000462990.1_Silent_p.V212V|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000444322.2_Silent_p.V336V	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	391	PP2A subunit B binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGACTGTGTGAACGAGGTGA	0.577			Mis		clear cell ovarian carcinoma																																	uc002pyp.2		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1171-1173)GTG>GTA		alpha isoform of regulatory subunit A, protein							106.0	93.0	97.0					19																	52722988		2203	4300	6503	SO:0001819	synonymous_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52722988G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1173G>A	19.37:g.52722988G>A						PPP2R1A_uc010ydk.1_Silent_p.V336V|PPP2R1A_uc002pyq.2_Silent_p.V212V	p.V391V	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	10	1332	+			391			PP2A subunit B binding.|HEAT 10.		Q13773|Q6ICQ3|Q96DH3	Silent	SNP	ENST00000322088.6	37	c.1173G>A	CCDS12849.1																																																																																				0.577	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		11	22	0	0	0	0	11	22				
ZNF667	63934	broad.mit.edu	37	19	56952582	56952582	+	Silent	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:56952582C>A	ENST00000504904.3	-	7	2501	c.1782G>T	c.(1780-1782)cgG>cgT	p.R594R	ZNF667_ENST00000342634.3_Silent_p.R722R|ZNF667_ENST00000292069.6_Silent_p.R594R|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	594					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGGATGAACTCCGACTATATG	0.388																																						uc002qnd.2		NA																	0				pancreas(1)	1						c.(1780-1782)CGG>CGT		zinc finger protein 667							115.0	111.0	112.0					19																	56952582		2203	4300	6503	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56952582C>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1782G>T	19.37:g.56952582C>A						ZNF667_uc010etl.2_Silent_p.R376R|ZNF667_uc002qne.2_Silent_p.R594R|ZNF667_uc010etm.2_Silent_p.R537R	p.R594R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1944	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	594			C2H2-type 15.		B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.1782G>T	CCDS12944.1																																																																																				0.388	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		21	42	1	0	7.88e-14	8.77e-14	21	42				
ZNF329	79673	broad.mit.edu	37	19	58639326	58639326	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:58639326C>T	ENST00000598312.1	-	4	1778	c.1545G>A	c.(1543-1545)caG>caA	p.Q515Q	ZNF329_ENST00000358067.4_Silent_p.Q515Q	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTTTTCCACACTGAGGACACC	0.512																																						uc002qrn.2		NA																	0				skin(1)	1						c.(1543-1545)CAG>CAA		zinc finger protein 329							176.0	163.0	167.0					19																	58639326		2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639326C>T	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1545G>A	19.37:g.58639326C>T						ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.Q515Q	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1782	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	515			C2H2-type 12.		B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.1545G>A	CCDS12972.1																																																																																				0.512	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		29	72	0	0	0	0	29	72				
KHK	3795	broad.mit.edu	37	2	27317367	27317367	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:27317367C>T	ENST00000260599.6	+	3	745	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Intron	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	78					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTCCGCCGCTATTCTGT	0.597																																						uc002ril.2		NA																	0					0						c.(232-234)CGC>TGC		ketohexokinase isoform a							90.0	89.0	89.0					2																	27317367		2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27317367C>T		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.232C>T	2.37:g.27317367C>T	ENSP00000260599:p.Arg78Cys					KHK_uc002rim.2_Intron|KHK_uc002rin.2_Missense_Mutation_p.R79C|KHK_uc002rio.2_Intron	p.R78C	NM_000221	NP_000212	P50053	KHK_HUMAN			3	749	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		78					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.232C>T	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383697	0.82792	.	.	ENSG00000138030	ENST00000260599;ENST00000429697	T;T	0.65178	-0.14;-0.14	5.63	5.63	0.86233	Carbohydrate/purine kinase (1);	0.797266	0.12117	N	0.497975	T	0.78780	0.4337	M	0.83953	2.67	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.56398	0.797;0.797	T	0.79264	-0.1875	10	0.62326	D	0.03	-3.5856	17.1653	0.86814	0.0:1.0:0.0:0.0	.	78;78	Q6IBK2;P50053	.;KHK_HUMAN	C	78	ENSP00000260599:R78C;ENSP00000404741:R78C	ENSP00000260599:R78C	R	+	1	0	KHK	27170871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.622000	0.54217	2.649000	0.89929	0.561000	0.74099	CGC		0.597	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			20	51	0	0	0	0	20	51				
FBXO11	80204	broad.mit.edu	37	2	48066041	48066041	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:48066041C>T	ENST00000403359.3	-	4	616	c.544G>A	c.(544-546)Gta>Ata	p.V182I	FBXO11_ENST00000378314.3_Missense_Mutation_p.V64I|FBXO11_ENST00000316377.4_Missense_Mutation_p.V98I|FBXO11_ENST00000402508.1_Missense_Mutation_p.V98I|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	182	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGTTTACATACACAAGCTGCT	0.378			"""Mis, F, D"""		DLBCL																																	uc010fbl.2		NA		Rec	yes		2	2p16.3	80204		F-box protein 11			L					2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	ovary(1)|lung(1)	2						c.(292-294)GTA>ATA		F-box only protein 11 isoform 1							116.0	106.0	109.0					2																	48066041		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48066041C>T	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.544G>A	2.37:g.48066041C>T	ENSP00000384823:p.Val182Ile					FBXO11_uc002rwe.2_Missense_Mutation_p.V98I|FBXO11_uc002rwf.2_Missense_Mutation_p.V98I|FBXO11_uc002rwg.1_Missense_Mutation_p.V98I	p.V98I	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	406	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	182			F-box.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.292G>A	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	C	35	5.429479	0.96131	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163;ENST00000378314	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.5	5.5	0.81552	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	M	0.93062	3.375	0.80722	D	1	B	0.31383	0.321	B	0.32724	0.151	T	0.82711	-0.0322	10	0.72032	D	0.01	-0.2008	19.3886	0.94570	0.0:1.0:0.0:0.0	.	182	Q86XK2	FBX11_HUMAN	I	98;182;98;98;64	ENSP00000385398:V98I;ENSP00000384823:V182I;ENSP00000323822:V98I;ENSP00000392272:V98I;ENSP00000367565:V64I	ENSP00000323822:V98I	V	-	1	0	FBXO11	47919545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.573000	0.86826	0.563000	0.77884	GTA		0.378	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		3	40	0	0	0	0	3	40				
POLR1A	25885	broad.mit.edu	37	2	86279995	86279995	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:86279995G>A	ENST00000263857.6	-	16	2715	c.2337C>T	c.(2335-2337)acC>acT	p.T779T	POLR1A_ENST00000483538.1_5'Flank|POLR1A_ENST00000409681.1_Silent_p.T779T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	779					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGGCCAGGCAGGTTAGAACCT	0.642																																						uc002sqs.2		NA																	0				ovary(2)|skin(1)	3						c.(2335-2337)ACC>ACT		DNA-directed RNA polymerase I A							28.0	32.0	31.0					2																	86279995		1957	4161	6118	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86279995G>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2337C>T	2.37:g.86279995G>A						POLR1A_uc010ytb.1_Silent_p.T145T	p.T779T	NM_015425	NP_056240	O95602	RPA1_HUMAN			16	2716	-			779					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.2337C>T	CCDS42706.1																																																																																				0.642	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		11	19	0	0	0	0	11	19				
TBR1	10716	broad.mit.edu	37	2	162273105	162273105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:162273105C>T	ENST00000389554.3	+	1	501	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	62					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GATGACGAATCAGTCAGATAC	0.493																																						uc002ubw.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(184-186)CAG>TAG		T-box, brain, 1							75.0	82.0	79.0					2																	162273105		2203	4300	6503	SO:0001587	stop_gained	10716					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:162273105C>T	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.184C>T	2.37:g.162273105C>T	ENSP00000374205:p.Gln62*					TBR1_uc010foy.2_5'Flank	p.Q62*	NM_006593	NP_006584	Q16650	TBR1_HUMAN			1	486	+			62					B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Nonsense_Mutation	SNP	ENST00000389554.3	37	c.184C>T	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	37	6.545702	0.97654	.	.	ENSG00000136535	ENST00000389554	.	.	.	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	17.349	0.87317	0.0:1.0:0.0:0.0	.	.	.	.	X	62	.	ENSP00000374205:Q62X	Q	+	1	0	TBR1	161981351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.466000	0.60148	2.688000	0.91661	0.655000	0.94253	CAG		0.493	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593		13	38	0	0	0	0	13	38				
WIPF1	7456	broad.mit.edu	37	2	175431842	175431842	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:175431842G>A	ENST00000392547.2	-	7	1511	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	WIPF1_ENST00000392546.2_Missense_Mutation_p.T471M|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000467149.1_5'UTR|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.T471M|WIPF1_ENST00000409891.1_Missense_Mutation_p.T471M|WIPF1_ENST00000272746.5_Missense_Mutation_p.T471M	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	471					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ACTTTTGGTCGTTTGTACATA	0.458																																						uc002uiy.2		NA																	0				ovary(1)|skin(1)	2						c.(1411-1413)ACG>ATG		WAS/WASL interacting protein family, member 1							146.0	144.0	144.0					2																	175431842		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175431842G>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1412C>T	2.37:g.175431842G>A	ENSP00000376330:p.Thr471Met					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.T471M|WIPF1_uc010fqt.1_Missense_Mutation_p.T471M|WIPF1_uc002uiz.2_Missense_Mutation_p.T471M|WIPF1_uc002ujb.1_Missense_Mutation_p.T471M	p.T471M	NM_003387	NP_003378	O43516	WIPF1_HUMAN			8	1744	-			471					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.1412C>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.310909	0.23821	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891	T;T;T;T;T	0.43294	1.53;1.53;1.53;1.53;0.95	6.02	1.68	0.24146	.	0.377327	0.30820	N	0.008809	T	0.10121	0.0248	N	0.00436	-1.5	0.31624	N	0.649873	B;B;B	0.15473	0.013;0.013;0.007	B;B;B	0.13407	0.009;0.009;0.004	T	0.08743	-1.0707	10	0.28530	T	0.3	.	3.4663	0.07550	0.4552:0.2031:0.3417:0.0	.	471;471;471	O43516-3;O43516-2;O43516	.;.;WIPF1_HUMAN	M	471;327;471;471;471;471	ENSP00000376330:T471M;ENSP00000272746:T471M;ENSP00000352802:T471M;ENSP00000376329:T471M;ENSP00000386431:T471M	ENSP00000272746:T471M	T	-	2	0	WIPF1	175140088	0.295000	0.24389	0.274000	0.24659	0.699000	0.40488	0.685000	0.25378	0.418000	0.25898	-0.143000	0.13931	ACG		0.458	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		14	33	0	0	0	0	14	33				
KANSL1L	151050	broad.mit.edu	37	2	211018847	211018847	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:211018847C>A	ENST00000281772.9	-	2	723	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	KANSL1L_ENST00000418791.1_Missense_Mutation_p.D154Y|KANSL1L_ENST00000452086.1_Missense_Mutation_p.D154Y|KANSL1L_ENST00000429908.2_5'Flank|KANSL1L_ENST00000457374.1_Missense_Mutation_p.D154Y	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	154						histone acetyltransferase complex (GO:0000123)											ATATTTGAATCCAGAATAATT	0.348																																						uc002vds.2		NA																	0				ovary(3)	3						c.(460-462)GAT>TAT		hypothetical protein LOC151050							99.0	93.0	95.0					2																	211018847		2202	4300	6502	SO:0001583	missense	151050							g.chr2:211018847C>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.460G>T	2.37:g.211018847C>A	ENSP00000281772:p.Asp154Tyr					C2orf67_uc002vdt.2_Missense_Mutation_p.D154Y|C2orf67_uc002vdw.2_Missense_Mutation_p.D154Y|C2orf67_uc002vdy.1_Missense_Mutation_p.D154Y|C2orf67_uc002vdv.2_Missense_Mutation_p.D154Y|C2orf67_uc002vdx.1_Missense_Mutation_p.D154Y	p.D154Y	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	2	668	-		Renal(323;0.202)	154					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.460G>T	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137754	0.56936	.	.	ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.	.	.	5.81	4.91	0.64330	.	0.290427	0.28555	N	0.014935	T	0.64864	0.2637	L	0.27053	0.805	0.38346	D	0.944197	D;D;D;D	0.89917	0.99;0.995;0.993;1.0	P;D;P;D	0.68943	0.885;0.919;0.884;0.961	T	0.70443	-0.4870	9	0.72032	D	0.01	.	17.0558	0.86533	0.0:0.8735:0.1265:0.0	.	154;154;154;154	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.;.;.;CB067_HUMAN	Y	154	.	ENSP00000281772:D154Y	D	-	1	0	C2orf67	210727092	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.780000	0.55386	2.765000	0.95021	0.558000	0.71614	GAT		0.348	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		8	23	1	0	0.000274275	0.000293949	8	23				
CXCR2	3579	broad.mit.edu	37	2	219000421	219000421	+	Silent	SNP	C	C	T	rs13306439		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:219000421C>T	ENST00000318507.2	+	3	1324	c.897C>T	c.(895-897)acC>acT	p.T299T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	299					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.T299T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGGATGCCACCGAGATTCTGG	0.567																																						uc002vgz.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(895-897)ACC>ACT		interleukin 8 receptor beta							83.0	79.0	81.0					2																	219000421		2203	4300	6503	SO:0001819	synonymous_variant	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000421C>T	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.897C>T	2.37:g.219000421C>T						CXCR2_uc002vha.1_Silent_p.T299T|CXCR2_uc002vhb.1_Silent_p.T299T	p.T299T	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	1122	+			299			Helical; Name=7; (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.897C>T	CCDS2408.1																																																																																				0.567	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		9	60	0	0	0	0	9	60				
WDFY1	57590	broad.mit.edu	37	2	224743419	224743419	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:224743419C>T	ENST00000233055.4	-	12	1304	c.1202G>A	c.(1201-1203)tGc>tAc	p.C401Y	WDFY1_ENST00000462702.1_5'Flank	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	401						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CGCCAGACTGCAGCCCACCAC	0.542																																						uc002vnq.2		NA																	0				lung(1)	1						c.(1201-1203)TGC>TAC		WD repeat and FYVE domain containing 1							72.0	72.0	72.0					2																	224743419		2203	4300	6503	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224743419C>T	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.1202G>A	2.37:g.224743419C>T	ENSP00000233055:p.Cys401Tyr						p.C401Y	NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	12	1253	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	401			WD 7.		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.1202G>A	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505087	0.64410	.	.	ENSG00000085449	ENST00000233055	T	0.66638	-0.22	5.54	5.54	0.83059	.	0.045080	0.85682	D	0.000000	T	0.51635	0.1686	N	0.14661	0.345	0.80722	D	1	P	0.50943	0.94	P	0.44732	0.459	T	0.53683	-0.8404	10	0.02654	T	1	-27.8822	19.5023	0.95100	0.0:1.0:0.0:0.0	.	401	Q8IWB7	WDFY1_HUMAN	Y	401	ENSP00000233055:C401Y	ENSP00000233055:C401Y	C	-	2	0	WDFY1	224451663	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.287000	0.78681	2.602000	0.87976	0.650000	0.86243	TGC		0.542	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		4	15	0	0	0	0	4	15				
COL4A4	1286	broad.mit.edu	37	2	227945173	227945173	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr2:227945173C>G	ENST00000396625.3	-	24	1996	c.1789G>C	c.(1789-1791)Gat>Cat	p.D597H	COL4A4_ENST00000329662.7_Missense_Mutation_p.D597H	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	597	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGTCCTGGATCCCCTTTTTCT	0.463																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(1789-1791)GAT>CAT		alpha 4 type IV collagen precursor							124.0	125.0	125.0					2																	227945173		1859	4102	5961	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227945173C>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1789G>C	2.37:g.227945173C>G	ENSP00000379866:p.Asp597His						p.D597H	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	24	2443	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	597			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1789G>C	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866914	0.32977	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96300	-3.97;-3.97	5.91	2.94	0.34122	.	.	.	.	.	D	0.93485	0.7921	L	0.48642	1.525	0.09310	N	0.99999	P	0.46395	0.877	B	0.43916	0.436	D	0.87444	0.2397	9	0.45353	T	0.12	.	6.1271	0.20186	0.2306:0.6185:0.0:0.1509	.	597	P53420	CO4A4_HUMAN	H	597	ENSP00000379866:D597H;ENSP00000328553:D597H	ENSP00000328553:D597H	D	-	1	0	COL4A4	227653417	0.002000	0.14202	0.979000	0.43373	0.393000	0.30537	0.699000	0.25586	1.510000	0.48803	0.655000	0.94253	GAT		0.463	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		15	54	0	0	0	0	15	54				
COL18A1	80781	broad.mit.edu	37	21	46899995	46899995	+	Silent	SNP	G	G	A	rs201380467		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr21:46899995G>A	ENST00000359759.4	+	10	2589	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	COL18A1_ENST00000400337.2_Silent_p.G441G|COL18A1_ENST00000355480.5_Silent_p.G621G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	856	Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGACCCTGGGGTTGGAGAGA	0.657																																						uc011afs.1		NA																	0				central_nervous_system(1)	1						c.(2566-2568)GGG>GGA		alpha 1 type XVIII collagen isoform 3 precursor		G	,	0,3792		0,0,1896	46.0	54.0	51.0		1863,1323	-4.6	0.0	21		51	2,8206		0,2,4102	no	coding-synonymous,coding-synonymous	COL18A1	NM_030582.3,NM_130445.2	,	0,2,5998	AA,AG,GG		0.0244,0.0,0.0167	,	621/1520,441/1340	46899995	2,11998	1896	4104	6000	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46899995G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2568G>A	21.37:g.46899995G>A						COL18A1_uc002zhg.2_Silent_p.G441G|COL18A1_uc002zhi.2_Silent_p.G621G	p.G856G	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	10	2589	+			856			Triple-helical region 2 (COL2).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.2568G>A																																																																																					0.657	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			3	47	0	0	0	0	3	47				
CECR1	51816	broad.mit.edu	37	22	17670900	17670900	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr22:17670900C>T	ENST00000399839.1	-	6	1174	c.904G>A	c.(904-906)Gca>Aca	p.A302T	CECR1_ENST00000330232.4_Missense_Mutation_p.A61T|CECR1_ENST00000262607.3_Missense_Mutation_p.A302T|CECR1_ENST00000399837.2_Missense_Mutation_p.A302T|CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000449907.2_Missense_Mutation_p.A260T	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	302					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATGGATTCTGCGATGACAGCC	0.577																																						uc002zmk.1		NA																	0				ovary(1)	1						c.(904-906)GCA>ACA		cat eye syndrome critical region protein 1							142.0	116.0	125.0					22																	17670900		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17670900C>T	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.904G>A	22.37:g.17670900C>T	ENSP00000382733:p.Ala302Thr					CECR1_uc010gqu.1_Missense_Mutation_p.A302T|CECR1_uc011agi.1_Missense_Mutation_p.A260T|CECR1_uc011agj.1_3'UTR|CECR1_uc002zmj.1_Missense_Mutation_p.A61T	p.A302T	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN			5	1116	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	302					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.904G>A	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	5.677	0.309469	0.10733	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7	4.14	-2.05	0.07321	Adenosine/AMP deaminase (1);	1.821790	0.03797	N	0.263850	D	0.85948	0.5816	N	0.04245	-0.25	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.12837	0.002;0.008	T	0.78969	-0.1994	10	0.13470	T	0.59	.	4.8967	0.13753	0.0:0.3746:0.1634:0.462	.	302;61	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	T	302;61;302;260;302	ENSP00000382733:A302T;ENSP00000332871:A61T;ENSP00000262607:A302T;ENSP00000406443:A260T;ENSP00000382731:A302T	ENSP00000262607:A302T	A	-	1	0	CECR1	16050900	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.072000	0.11486	-0.773000	0.04596	-0.377000	0.06932	GCA		0.577	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			10	37	0	0	0	0	10	37				
GNB1L	54584	broad.mit.edu	37	22	19789706	19789706	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr22:19789706C>T	ENST00000329517.6	-	7	786	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	GNB1L_ENST00000405009.1_Missense_Mutation_p.G184S|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.G184S	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	184					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TCCTCATAGCCGGCCAGAAGG	0.622																																						uc002zqe.1		NA																	0				breast(1)	1						c.(550-552)GGC>AGC		guanine nucleotide binding protein							44.0	43.0	43.0					22																	19789706		2203	4300	6503	SO:0001583	missense	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19789706C>T	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.550G>A	22.37:g.19789706C>T	ENSP00000331313:p.Gly184Ser					GNB1L_uc002zqd.1_Missense_Mutation_p.G40S|GNB1L_uc002zqf.1_Missense_Mutation_p.G184S	p.G184S	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN			6	944	-	Colorectal(54;0.0993)		184			WD 3.		Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.550G>A	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	C	35	5.583685	0.96578	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.27890	1.64;1.64;4.61	5.46	5.46	0.80206	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.61627	0.2362	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65344	-0.6191	10	0.66056	D	0.02	-1.9339	19.6649	0.95889	0.0:1.0:0.0:0.0	.	184	Q9BYB4	GNB1L_HUMAN	S	184	ENSP00000331313:G184S;ENSP00000385154:G184S;ENSP00000384626:G184S	ENSP00000331313:G184S	G	-	1	0	GNB1L	18169706	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	6.619000	0.74219	2.724000	0.93272	0.561000	0.74099	GGC		0.622	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			12	31	0	0	0	0	12	31				
DCLK3	85443	broad.mit.edu	37	3	36779850	36779850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:36779850C>T	ENST00000416516.2	-	2	791	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	101						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E101*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTTCTGGCTCCCATTTCCCC	0.592																																						uc003cgi.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(301-303)GAG>AAG		doublecortin-like kinase 3							122.0	128.0	126.0					3																	36779850		1909	4105	6014	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779850C>T	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.301G>A	3.37:g.36779850C>T	ENSP00000394484:p.Glu101Lys						p.E101K	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			2	792	-			101						Missense_Mutation	SNP	ENST00000416516.2	37	c.301G>A	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	8.134	0.783720	0.16189	.	.	ENSG00000163673	ENST00000416516	T	0.69435	-0.4	4.3	3.42	0.39159	.	0.000000	0.33180	N	0.005188	T	0.51601	0.1684	L	0.34521	1.04	0.29072	N	0.883252	B	0.06786	0.001	B	0.04013	0.001	T	0.50372	-0.8836	10	0.52906	T	0.07	.	7.6838	0.28528	0.0:0.731:0.0:0.269	.	101	Q9C098	DCLK3_HUMAN	K	101	ENSP00000394484:E101K	ENSP00000394484:E101K	E	-	1	0	DCLK3	36754854	0.313000	0.24554	0.443000	0.26883	0.075000	0.17131	1.406000	0.34646	1.121000	0.41925	0.655000	0.94253	GAG		0.592	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		46	85	0	0	0	0	46	85				
DCLK3	85443	broad.mit.edu	37	3	36779895	36779895	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:36779895C>G	ENST00000416516.2	-	2	746	c.256G>C	c.(256-258)Gat>Cat	p.D86H		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	86						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTCTGTCATCTAGTGAAAGC	0.622																																						uc003cgi.2		NA																	0				lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(256-258)GAT>CAT		doublecortin-like kinase 3							128.0	133.0	132.0					3																	36779895		1923	4121	6044	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779895C>G	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.256G>C	3.37:g.36779895C>G	ENSP00000394484:p.Asp86His						p.D86H	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			2	747	-			86						Missense_Mutation	SNP	ENST00000416516.2	37	c.256G>C	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	2.238	-0.374541	0.05034	.	.	ENSG00000163673	ENST00000416516	T	0.68025	-0.3	4.35	3.44	0.39384	.	0.513686	0.14492	N	0.316266	T	0.44623	0.1302	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39542	-0.9609	10	0.87932	D	0	.	7.8184	0.29274	0.0:0.7469:0.1649:0.0882	.	86	Q9C098	DCLK3_HUMAN	H	86	ENSP00000394484:D86H	ENSP00000394484:D86H	D	-	1	0	DCLK3	36754899	0.655000	0.27376	0.085000	0.20634	0.007000	0.05969	2.956000	0.49129	0.924000	0.37069	0.655000	0.94253	GAT		0.622	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		51	100	0	0	0	0	51	100				
PLCD1	5333	broad.mit.edu	37	3	38050888	38050888	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:38050888T>C	ENST00000334661.4	-	10	1703	c.1481A>G	c.(1480-1482)gAc>gGc	p.D494G	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.D515G	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	494	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AATGACCATGTCAGAGAGCTC	0.577																																						uc003chn.2		NA																	0				skin(1)	1						c.(1480-1482)GAC>GGC		phospholipase C, delta 1 isoform 2							62.0	69.0	67.0					3																	38050888		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38050888T>C		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1481A>G	3.37:g.38050888T>C	ENSP00000335600:p.Asp494Gly					PLCD1_uc003chm.2_Missense_Mutation_p.D515G	p.D494G	NM_006225	NP_006216	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	10	1605	-			494			PI-PLC Y-box.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.1481A>G	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987765	0.74589	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.65549	-0.16;-0.16	5.04	5.04	0.67666	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.79108	0.992;0.977	D	0.88725	0.3232	10	0.72032	D	0.01	.	14.7346	0.69406	0.0:0.0:0.0:1.0	.	494;515	P51178;B3KR14	PLCD1_HUMAN;.	G	515;494	ENSP00000430344:D515G;ENSP00000335600:D494G	ENSP00000335600:D494G	D	-	2	0	PLCD1	38025892	0.941000	0.31946	0.677000	0.29947	0.990000	0.78478	3.479000	0.53165	2.042000	0.60477	0.454000	0.30748	GAC		0.577	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			17	14	0	0	0	0	17	14				
CACNA2D2	9254	broad.mit.edu	37	3	50402370	50402370	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:50402370C>T	ENST00000479441.1	-	38	3260	c.3261G>A	c.(3259-3261)caG>caA	p.Q1087Q	XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000266039.3_Silent_p.Q1082Q|CACNA2D2_ENST00000395083.1_Silent_p.Q1083Q|CACNA2D2_ENST00000423994.2_Silent_p.Q1090Q|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.Q1081Q|CACNA2D2_ENST00000360963.3_Silent_p.Q1013Q|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000435965.1_Silent_p.Q1090Q|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000424201.2_Silent_p.Q1080Q|XXcos-LUCA11.4_ENST00000606665.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1087					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCGCGGTCTCTGCACTAGCT	0.721																																						uc003daq.2		NA																	0				lung(1)	1						c.(3259-3261)CAG>CAA		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						42.0	44.0	43.0					3																	50402370		2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50402370C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.3261G>A	3.37:g.50402370C>T						CACNA2D2_uc003dap.2_Silent_p.Q1080Q|CACNA2D2_uc003dao.2_Silent_p.Q160Q	p.Q1087Q	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	38	3299	-			1087			Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.3261G>A	CCDS54588.1																																																																																				0.721	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		8	30	0	0	0	0	8	30				
MYH15	22989	broad.mit.edu	37	3	108117636	108117636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:108117636C>A	ENST00000273353.3	-	36	5097	c.5041G>T	c.(5041-5043)Gag>Tag	p.E1681*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1681						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCACCTGCTCCTTCAGATCA	0.537																																						uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(5041-5043)GAG>TAG		myosin, heavy polypeptide 15							153.0	157.0	156.0					3																	108117636		2095	4227	6322	SO:0001587	stop_gained	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108117636C>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5041G>T	3.37:g.108117636C>A	ENSP00000273353:p.Glu1681*						p.E1681*	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			36	5098	-			1681			Potential.			Nonsense_Mutation	SNP	ENST00000273353.3	37	c.5041G>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	45	11.623708	0.99583	.	.	ENSG00000144821	ENST00000273353	.	.	.	5.72	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.9602	0.86270	0.0:0.8725:0.1275:0.0	.	.	.	.	X	1681	.	ENSP00000273353:E1681X	E	-	1	0	MYH15	109600326	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	3.960000	0.56752	1.413000	0.46997	0.655000	0.94253	GAG		0.537	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		9	163	1	0	0.000673444	0.00071571	9	163				
SEMA5B	54437	broad.mit.edu	37	3	122647874	122647874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr3:122647874C>T	ENST00000357599.3	-	6	892	c.506G>A	c.(505-507)cGc>cAc	p.R169H	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R223H|SEMA5B_ENST00000195173.4_Missense_Mutation_p.R169H	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	169	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCAGGAGCGGCGCGTGTCCTC	0.617																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(505-507)CGC>CAC		semaphorin 5B isoform 1							74.0	63.0	67.0					3																	122647874		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122647874C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.506G>A	3.37:g.122647874C>T	ENSP00000350215:p.Arg169His					SEMA5B_uc011bju.1_Missense_Mutation_p.R111H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R169H|SEMA5B_uc010hro.1_Missense_Mutation_p.R111H|SEMA5B_uc010hrp.1_RNA	p.R169H	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	6	810	-			169			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.506G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727151	0.89390	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.94	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	M	0.73217	2.22	0.52501	D	0.999956	D;D;D	0.67145	0.995;0.996;0.996	P;D;D	0.65140	0.888;0.932;0.932	T	0.00220	-1.1906	10	0.49607	T	0.09	.	8.1148	0.30935	0.0:0.8348:0.0:0.1652	.	111;169;169	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	H	169;169;111;223;169	ENSP00000350215:R169H;ENSP00000195173:R169H;ENSP00000389588:R223H;ENSP00000377208:R169H	ENSP00000195173:R169H	R	-	2	0	SEMA5B	124130564	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	3.176000	0.50863	2.826000	0.97356	0.561000	0.74099	CGC		0.617	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		8	30	0	0	0	0	8	30				
MTTP	4547	broad.mit.edu	37	4	100543978	100543978	+	Silent	SNP	G	G	A	rs368664326		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr4:100543978G>A	ENST00000265517.5	+	18	2861	c.2658G>A	c.(2656-2658)ccG>ccA	p.P886P	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.P913P|MTTP_ENST00000457717.1_Silent_p.P886P			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	886					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CCCCTCAGCCGGATAGTACTT	0.443																																						uc003hvc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2656-2658)CCG>CCA		microsomal triglyceride transfer protein large	Hesperetin(DB01094)	G		1,4405	2.1+/-5.4	0,1,2202	160.0	158.0	159.0		2658	-11.7	0.0	4		159	0,8600		0,0,4300	no	coding-synonymous	MTTP	NM_000253.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		886/895	100543978	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100543978G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2658G>A	4.37:g.100543978G>A						MTTP_uc011cej.1_Silent_p.P913P	p.P886P	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	19	2914	+			886					A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.2658G>A	CCDS3651.1																																																																																				0.443	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			24	55	0	0	0	0	24	55				
NKD2	85409	broad.mit.edu	37	5	1032273	1032273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:1032273C>T	ENST00000296849.5	+	4	377	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	NKD2_ENST00000537972.1_Missense_Mutation_p.P50S|NKD2_ENST00000274150.4_Missense_Mutation_p.P50S	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	50	Targeting to the basolateral cell membrane.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCAGGAGCTGCCCAATGGGGA	0.662																																						uc003jbt.1		NA																	0					0						c.(148-150)CCC>TCC		naked cuticle homolog 2							64.0	76.0	72.0					5																	1032273		2203	4298	6501	SO:0001583	missense	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1032273C>T	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.148C>T	5.37:g.1032273C>T	ENSP00000296849:p.Pro50Ser					NKD2_uc010itf.1_Missense_Mutation_p.P50S	p.P50S	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		4	153	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		50			Targeting to the basolateral cell membrane.		Q96EK8|Q9BSN0	Missense_Mutation	SNP	ENST00000296849.5	37	c.148C>T	CCDS3859.1	.	.	.	.	.	.	.	.	.	.	C	1.630	-0.519232	0.04171	.	.	ENSG00000145506	ENST00000296849;ENST00000274150;ENST00000537972	T;T;T	0.00570	6.51;6.51;6.51	4.2	3.33	0.38152	.	0.682221	0.13233	N	0.403452	T	0.00412	0.0013	L	0.31664	0.95	0.80722	D	1	P;P	0.36535	0.557;0.557	B;B	0.32864	0.154;0.117	T	0.76405	-0.2971	10	0.19147	T	0.46	-0.631	7.7928	0.29129	0.0:0.8808:0.0:0.1192	.	50;50	Q969F2-2;Q969F2	.;NKD2_HUMAN	S	50	ENSP00000296849:P50S;ENSP00000274150:P50S;ENSP00000440925:P50S	ENSP00000274150:P50S	P	+	1	0	NKD2	1085273	0.896000	0.30565	0.570000	0.28473	0.337000	0.28794	2.670000	0.46833	0.753000	0.32945	0.491000	0.48974	CCC		0.662	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		22	204	0	0	0	0	22	204				
RXFP3	51289	broad.mit.edu	37	5	33937016	33937016	+	Silent	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:33937016G>A	ENST00000330120.3	+	1	526	c.171G>A	c.(169-171)ccG>ccA	p.P57P		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	57					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGGAGTTGCCGGACGGCGCGC	0.687																																						uc003jic.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(169-171)CCG>CCA		relaxin/insulin-like family peptide receptor 3							54.0	68.0	64.0					5																	33937016		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937016G>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.171G>A	5.37:g.33937016G>A							p.P57P	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	528	+			57			Extracellular (Potential).		Q14DA5	Silent	SNP	ENST00000330120.3	37	c.171G>A	CCDS3900.1																																																																																				0.687	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		14	153	0	0	0	0	14	153				
MARVELD2	153562	broad.mit.edu	37	5	68716051	68716051	+	Missense_Mutation	SNP	G	G	A	rs555314542		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:68716051G>A	ENST00000325631.5	+	2	913	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	280	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATGTATTACCGGACCATTCTT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		21945	0.0		0.0	False		,,,				2504	0.001					uc003jwq.2		NA																	0					0						c.(838-840)CGG>CAG		MARVEL domain containing 2 isoform 1							209.0	196.0	201.0					5																	68716051		2203	4300	6503	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68716051G>A	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.839G>A	5.37:g.68716051G>A	ENSP00000323264:p.Arg280Gln					MARVELD2_uc010ixf.2_Missense_Mutation_p.R280Q|MARVELD2_uc003jwr.1_Missense_Mutation_p.R280Q|MARVELD2_uc003jws.1_Intron	p.R280Q	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	2	898	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	280			MARVEL.|Extracellular (Potential).		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.839G>A	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897130	0.91962	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803	T;T;T	0.58940	0.9;0.3;1.09	5.23	4.36	0.52297	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.53249	1.67	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.997	P;P;P	0.58620	0.842;0.643;0.826	T	0.68546	-0.5380	10	0.59425	D	0.04	-16.3855	12.8345	0.57765	0.0806:0.0:0.9194:0.0	.	280;280;280	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	Q	280	ENSP00000323264:R280Q;ENSP00000396244:R280Q;ENSP00000423490:R280Q	ENSP00000282886:R280Q	R	+	2	0	MARVELD2	68751807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.928000	0.87587	1.212000	0.43366	0.561000	0.74099	CGG		0.433	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		15	55	0	0	0	0	15	55				
PCDHA4	56144	broad.mit.edu	37	5	140187182	140187182	+	Missense_Mutation	SNP	A	A	C	rs144914662	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr5:140187182A>C	ENST00000530339.1	+	1	410	c.410A>C	c.(409-411)cAa>cCa	p.Q137P	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.Q137P|PCDHA4_ENST00000356878.4_Missense_Mutation_p.Q137P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	137	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCAACACAAAAGAACCTG	0.572													.|||	2	0.000399361	0.0	0.0	5008	,	,		17116	0.0		0.002	False		,,,				2504	0.0					uc003lhi.2		NA																	0				ovary(4)|skin(2)	6						c.(409-411)CAA>CCA		protocadherin alpha 4 isoform 1 precursor		A	,,,PRO/GLN,,PRO/GLN	0,4406		0,0,2203	81.0	83.0	82.0		,,,410,,410	0.3	0.0	5	dbSNP_134	82	10,8590	7.1+/-27.0	0,10,4290	yes	intron,intron,intron,missense,intron,missense	PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_031411.1,NM_031500.1	,,,76,,76	0,10,6493	CC,CA,AA		0.1163,0.0,0.0769	,,,,,	,,,137/948,,137/799	140187182	10,12996	2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140187182A>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.410A>C	5.37:g.140187182A>C	ENSP00000435300:p.Gln137Pro					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.Q137P|PCDHA4_uc011daa.1_Missense_Mutation_p.Q137P	p.Q137P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	511	+			137			Extracellular (Potential).|Cadherin 2.		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.410A>C	CCDS54916.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	a	5.056	0.195955	0.09599	0.0	0.001163	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.37752	1.18;1.18;1.18	4.47	0.261	0.15592	Cadherin (2);Cadherin-like (1);	0.193757	0.24479	U	0.038161	T	0.19127	0.0459	N	0.21508	0.67	0.09310	N	1	B;B;B	0.16802	0.005;0.002;0.019	B;B;B	0.17098	0.008;0.002;0.017	T	0.14062	-1.0486	10	0.72032	D	0.01	.	2.5537	0.04755	0.546:0.1302:0.073:0.2508	.	137;137;137	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	P	137	ENSP00000423470:Q137P;ENSP00000349344:Q137P;ENSP00000435300:Q137P	ENSP00000349344:Q137P	Q	+	2	0	PCDHA4	140167366	0.000000	0.05858	0.003000	0.11579	0.340000	0.28889	0.021000	0.13489	-0.124000	0.11724	-0.490000	0.04691	CAA		0.572	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	82	0	0	0	0	4	82				
ZFAND3	60685	broad.mit.edu	37	6	38084407	38084407	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr6:38084407G>C	ENST00000287218.4	+	5	868	c.421G>C	c.(421-423)Gaa>Caa	p.E141Q	ZFAND3_ENST00000373391.2_Missense_Mutation_p.E119Q	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	141							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						TGAGAATACGGAACGGTCCGA	0.498																																						uc003onx.2		NA																	0				ovary(1)	1						c.(421-423)GAA>CAA		zinc finger, AN1-type domain 3							138.0	116.0	123.0					6																	38084407		2203	4300	6503	SO:0001583	missense	60685						DNA binding|zinc ion binding	g.chr6:38084407G>C	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.421G>C	6.37:g.38084407G>C	ENSP00000287218:p.Glu141Gln						p.E141Q	NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN			5	836	+			141					Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	c.421G>C	CCDS4836.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.52|14.52	2.559328|2.559328	0.45590|0.45590	.|.	.|.	ENSG00000156639|ENSG00000156639	ENST00000287218;ENST00000373391;ENST00000474522|ENST00000373389	T|.	0.55760|.	0.5|.	5.28|5.28	3.37|3.37	0.38596|0.38596	Zinc finger, AN1-type (1);|.	0.584804|.	0.18689|.	N|.	0.133913|.	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.03608|0.03608	-0.345|-0.345	0.30356|0.30356	N|N	0.784292|0.784292	B|.	0.11235|.	0.004|.	B|.	0.09377|.	0.004|.	T|T	0.26326|0.26326	-1.0106|-1.0106	10|5	0.25106|.	T|.	0.35|.	-8.7789|-8.7789	10.6002|10.6002	0.45362|0.45362	0.0725:0.1329:0.7946:0.0|0.0725:0.1329:0.7946:0.0	.|.	141|.	Q9H8U3|.	ZFAN3_HUMAN|.	Q|A	141;119;172|117	ENSP00000420240:E172Q|.	ENSP00000287218:E141Q|.	E|G	+|+	1|2	0|0	ZFAND3|ZFAND3	38192385|38192385	1.000000|1.000000	0.71417|0.71417	0.216000|0.216000	0.23742|0.23742	0.941000|0.941000	0.58515|0.58515	3.907000|3.907000	0.56348|0.56348	1.356000|1.356000	0.45884|0.45884	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.498	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		14	33	0	0	0	0	14	33				
SLC22A7	10864	broad.mit.edu	37	6	43267656	43267656	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr6:43267656G>C	ENST00000372585.5	+	5	774	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	SLC22A7_ENST00000372574.3_Missense_Mutation_p.E225Q|SLC22A7_ENST00000372589.3_Missense_Mutation_p.E225Q|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	227					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GCTGGATGTGGAGCACCGCAC	0.607																																						uc003out.2		NA																	0					0						c.(679-681)GAG>CAG		solute carrier family 22 member 7 isoform b							107.0	89.0	95.0					6																	43267656		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43267656G>C	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.679G>C	6.37:g.43267656G>C	ENSP00000361666:p.Glu227Gln					SLC22A7_uc010jyl.1_Missense_Mutation_p.E228Q|SLC22A7_uc003ous.2_Missense_Mutation_p.E225Q	p.E227Q	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		5	778	+			227					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.679G>C	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	4.438	0.081069	0.08533	.	.	ENSG00000137204	ENST00000451757;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.68	1.95	0.26073	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.658638	0.15340	N	0.267552	T	0.16342	0.0393	N	0.19112	0.55	0.09310	N	1	B;B;B	0.16166	0.016;0.013;0.013	B;B;B	0.25759	0.063;0.037;0.037	T	0.27773	-1.0064	10	0.21540	T	0.41	.	4.5758	0.12232	0.333:0.1525:0.5145:0.0	.	227;225;225	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	Q	99;225;227;225	ENSP00000416052:E99Q;ENSP00000361670:E225Q;ENSP00000361666:E227Q;ENSP00000361655:E225Q	ENSP00000361655:E225Q	E	+	1	0	SLC22A7	43375634	0.013000	0.17824	0.962000	0.40283	0.089000	0.18198	0.347000	0.20014	0.344000	0.23847	0.557000	0.71058	GAG		0.607	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			17	42	0	0	0	0	17	42				
HNRNPA2B1	3181	broad.mit.edu	37	7	26233291	26233291	+	Missense_Mutation	SNP	C	C	T	rs375157988		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:26233291C>T	ENST00000354667.4	-	9	949	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	HNRNPA2B1_ENST00000476233.1_5'Flank|HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G249S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	261	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCTCCATAACCGGGGCTACCT	0.448			T	ETV1	prostate																																	uc003sxr.3		NA		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(781-783)GGT>AGT		heterogeneous nuclear ribonucleoprotein A2/B1		C	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	71.0	73.0	73.0		781,745	5.2	1.0	7		73	0,8600		0,0,4300	no	missense,missense	HNRNPA2B1	NM_031243.2,NM_002137.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	261/354,249/342	26233291	1,13005	2203	4300	6503	SO:0001583	missense	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26233291C>T	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.781G>A	7.37:g.26233291C>T	ENSP00000346694:p.Gly261Ser					HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.G249S	p.G261S	NM_031243	NP_112533	P22626	ROA2_HUMAN			9	997	-			261			Gly-rich.		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	ENST00000354667.4	37	c.781G>A	CCDS43557.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804324	0.31869	2.27E-4	0.0	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.88975	-2.45;-2.45	6.07	5.2	0.72013	.	0.000000	0.64402	D	0.000004	D	0.83252	0.5214	L	0.35793	1.09	0.40240	D	0.977948	B;B	0.23891	0.093;0.056	B;B	0.18561	0.022;0.01	T	0.78991	-0.1985	10	0.20046	T	0.44	.	15.029	0.71691	0.0:0.9316:0.0:0.0684	.	249;261	P22626-2;P22626	.;ROA2_HUMAN	S	261;249	ENSP00000346694:G261S;ENSP00000349101:G249S	ENSP00000346694:G261S	G	-	1	0	HNRNPA2B1	26199816	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	3.648000	0.54410	1.587000	0.49959	-0.136000	0.14681	GGT		0.448	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		20	55	0	0	0	0	20	55				
AUTS2	26053	broad.mit.edu	37	7	70254942	70254942	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:70254942G>A	ENST00000342771.4	+	19	3061	c.2740G>A	c.(2740-2742)Ggc>Agc	p.G914S	AUTS2_ENST00000406775.2_Missense_Mutation_p.G890S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	914										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCGAAAGAGGGCCACCTGCC	0.687																																						uc003tvw.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2740-2742)GGC>AGC		autism susceptibility candidate 2 isoform 1							27.0	28.0	27.0					7																	70254942		2199	4299	6498	SO:0001583	missense	26053							g.chr7:70254942G>A	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2740G>A	7.37:g.70254942G>A	ENSP00000344087:p.Gly914Ser					AUTS2_uc003tvx.3_Missense_Mutation_p.G890S|AUTS2_uc011keg.1_Missense_Mutation_p.G366S	p.G914S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	3483	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	914					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.2740G>A	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	4.576	0.106954	0.08780	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.26518	1.73;1.74	4.28	2.37	0.29283	.	0.461250	0.24886	N	0.034805	T	0.08133	0.0203	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.16217	-1.0410	9	.	.	.	-11.3074	6.1488	0.20301	0.4278:0.0:0.5722:0.0	.	366;890;914	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	S	890;914	ENSP00000385263:G890S;ENSP00000344087:G914S	.	G	+	1	0	AUTS2	69892878	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.057000	0.57455	0.987000	0.38709	0.655000	0.94253	GGC		0.687	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			3	15	0	0	0	0	3	15				
FLNC	2318	broad.mit.edu	37	7	128497288	128497288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:128497288G>A	ENST00000325888.8	+	46	7939	c.7678G>A	c.(7678-7680)Gtg>Atg	p.V2560M	FLNC_ENST00000346177.6_Missense_Mutation_p.V2527M|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2560	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGAGGGCCATGTGGTCACTTA	0.607																																						uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(7678-7680)GTG>ATG		gamma filamin isoform a							67.0	73.0	71.0					7																	128497288		2088	4221	6309	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128497288G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7678G>A	7.37:g.128497288G>A	ENSP00000327145:p.Val2560Met					FLNC_uc003voa.3_Missense_Mutation_p.V2527M	p.V2560M	NM_001458	NP_001449	Q14315	FLNC_HUMAN			46	7887	+			2560			Interaction with INPPL1.|Filamin 23.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7678G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	g	15.95	2.985106	0.53934	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85258	-1.96;-1.96	5.28	5.28	0.74379	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.226724	0.37669	N	0.001999	T	0.74283	0.3696	N	0.20685	0.6	0.38918	D	0.957684	B;B	0.33135	0.137;0.399	B;B	0.36808	0.06;0.233	T	0.73943	-0.3823	10	0.42905	T	0.14	.	6.8679	0.24104	0.2148:0.0:0.7852:0.0	.	2527;2560	Q14315-2;Q14315	.;FLNC_HUMAN	M	2560;2527	ENSP00000327145:V2560M;ENSP00000344002:V2527M	ENSP00000327145:V2560M	V	+	1	0	FLNC	128284524	0.642000	0.27260	1.000000	0.80357	0.908000	0.53690	1.811000	0.38942	2.476000	0.83614	0.555000	0.69702	GTG		0.607	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			16	71	0	0	0	0	16	71				
SSPO	23145	broad.mit.edu	37	7	149509044	149509044	+	RNA	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:149509044C>G	ENST00000378016.2	+	0	9590							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGTGTTCAGCCTCCTGTGGC	0.697																																						uc010lpk.2		NA																	0					0						c.(9589-9591)GCC>GGC		SCO-spondin precursor							31.0	36.0	34.0					7																	149509044		2047	4177	6224			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509044C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509044C>G							p.A3197G	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		69	9590	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3197			TSP type-1 11.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.9590C>G																																																																																					0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	53	0	0	0	0	3	53				
KMT2C	58508	broad.mit.edu	37	7	151879181	151879181	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr7:151879181G>C	ENST00000262189.6	-	36	5982	c.5764C>G	c.(5764-5766)Cca>Gca	p.P1922A	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1922A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1922	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTTCCACTGGTGCAGCAGAA	0.463																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(5764-5766)CCA>GCA		myeloid/lymphoid or mixed-lineage leukemia 3							86.0	89.0	88.0					7																	151879181		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151879181G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5764C>G	7.37:g.151879181G>C	ENSP00000262189:p.Pro1922Ala					MLL3_uc003wkz.2_Missense_Mutation_p.P983A	p.P1922A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	5983	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1922			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5764C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	3.139	-0.176638	0.06380	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.39997	1.05;1.05	5.41	2.54	0.30619	.	0.504809	0.16181	N	0.225849	T	0.24509	0.0594	N	0.17082	0.46	0.22531	N	0.999019	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.15206	-1.0445	10	0.41790	T	0.15	.	7.3664	0.26776	0.2028:0.1212:0.676:0.0	.	1922;983	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	A	1922	ENSP00000262189:P1922A;ENSP00000347325:P1922A	ENSP00000262189:P1922A	P	-	1	0	MLL3	151510114	0.998000	0.40836	0.001000	0.08648	0.609000	0.37215	2.639000	0.46570	0.636000	0.30508	0.563000	0.77884	CCA		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			17	56	0	0	0	0	17	56				
PKHD1L1	93035	broad.mit.edu	37	8	110441662	110441662	+	Silent	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr8:110441662C>T	ENST00000378402.5	+	26	3198	c.3094C>T	c.(3094-3096)Cta>Tta	p.L1032L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1032					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTTGGAGACCTACTTCGTAC	0.323										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(3094-3096)CTA>TTA		fibrocystin L precursor							91.0	83.0	86.0					8																	110441662		1876	4095	5971	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110441662C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3094C>T	8.37:g.110441662C>T		HNSCC(38;0.096)					p.L1032L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		26	3198	+			1032			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.3094C>T	CCDS47911.1																																																																																				0.323	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		4	8	0	0	0	0	4	8				
GTF3C4	9329	broad.mit.edu	37	9	135553693	135553693	+	Silent	SNP	G	G	A	rs138509726		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr9:135553693G>A	ENST00000372146.4	+	2	1251	c.687G>A	c.(685-687)ccG>ccA	p.P229P	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	229					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ATGAGGCCCCGGAAGGAAATC	0.517																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(685-687)CCG>CCA		general transcription factor IIIC 4							52.0	58.0	56.0					9																	135553693		2203	4300	6503	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135553693G>A	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.687G>A	9.37:g.135553693G>A						GTF3C4_uc010mzw.2_RNA	p.P229P	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	945	+			229					Q5VZJ7	Silent	SNP	ENST00000372146.4	37	c.687G>A	CCDS6953.1																																																																																				0.517	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			37	29	0	0	0	0	37	29				
POLA1	5422	broad.mit.edu	37	X	24745918	24745918	+	Silent	SNP	C	C	G			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:24745918C>G	ENST00000379059.3	+	15	1548	c.1533C>G	c.(1531-1533)gtC>gtG	p.V511V	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379068.3_Silent_p.V517V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	511					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ATCAGCCAGTCAGTTGGTGTA	0.388																																						uc004dbl.2		NA																	0				ovary(2)|skin(1)	3						c.(1531-1533)GTC>GTG		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						145.0	119.0	128.0					X																	24745918		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24745918C>G		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.1533C>G	X.37:g.24745918C>G						POLA1_uc004dbm.2_Silent_p.V517V|POLA1_uc004dbn.2_Silent_p.V375V	p.V511V	NM_016937	NP_058633	P09884	DPOLA_HUMAN			15	1556	+			511					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.1533C>G	CCDS14214.1																																																																																				0.388	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		8	46	0	0	0	0	8	46				
FAM155B	27112	broad.mit.edu	37	X	68749788	68749788	+	Missense_Mutation	SNP	C	C	T	rs370339724		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:68749788C>T	ENST00000252338.4	+	3	1450	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	471						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GGGCCTGACACGGGAAGAGTG	0.632													C|||	1	0.000264901	0.0	0.0	3775	,	,		10441	0.0		0.0	False		,,,				2504	0.001					uc004dxk.2		NA																	0				ovary(1)|breast(1)	2						c.(1408-1410)CGG>TGG		transmembrane protein 28		C	TRP/ARG	1,3834		0,1,1631,571	30.0	20.0	24.0		1408	2.2	1.0	X		24	0,6726		0,0,2428,1870	no	missense	FAM155B	NM_015686.2	101	0,1,4059,2441	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	470/473	68749788	1,10560	2203	4298	6501	SO:0001583	missense	27112					integral to membrane		g.chrX:68749788C>T	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.1408C>T	X.37:g.68749788C>T	ENSP00000252338:p.Arg470Trp						p.R470W	NM_015686	NP_056501	O75949	F155B_HUMAN			3	1456	+			471					B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	ENST00000252338.4	37	c.1408C>T	CCDS35317.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538637	0.45176	2.61E-4	0.0	ENSG00000130054	ENST00000252338	T	0.50277	0.75	4.23	2.22	0.28083	.	0.370095	0.23457	N	0.047969	T	0.35307	0.0927	L	0.43152	1.355	0.21290	N	0.999738	B	0.06786	0.001	B	0.04013	0.001	T	0.33317	-0.9873	10	0.87932	D	0	-2.0046	5.8784	0.18842	0.2034:0.6777:0.0:0.1189	.	470	O75949-2	.	W	470	ENSP00000252338:R470W	ENSP00000252338:R470W	R	+	1	2	FAM155B	68666513	0.677000	0.27577	0.997000	0.53966	0.991000	0.79684	0.863000	0.27913	0.804000	0.34136	0.411000	0.27672	CGG		0.632	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		3	21	0	0	0	0	3	21				
BRWD3	254065	broad.mit.edu	37	X	79960224	79960224	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:79960224T>A	ENST00000373275.4	-	23	2890	c.2674A>T	c.(2674-2676)Aag>Tag	p.K892*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	892					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTAGGGACTTCAAATTTTCC	0.348																																						uc004edt.2		NA																	0				ovary(4)	4						c.(2674-2676)AAG>TAG		bromodomain and WD repeat domain containing 3							127.0	113.0	117.0					X																	79960224		2203	4299	6502	SO:0001587	stop_gained	254065							g.chrX:79960224T>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2674A>T	X.37:g.79960224T>A	ENSP00000362372:p.Lys892*					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edp.2_Nonsense_Mutation_p.K721*|BRWD3_uc004edq.2_Nonsense_Mutation_p.K488*|BRWD3_uc010nmj.1_Nonsense_Mutation_p.K488*|BRWD3_uc004edr.2_Nonsense_Mutation_p.K562*|BRWD3_uc004eds.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edu.2_Nonsense_Mutation_p.K562*|BRWD3_uc004edv.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edw.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edx.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edy.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edz.2_Nonsense_Mutation_p.K562*|BRWD3_uc004eea.2_Nonsense_Mutation_p.K562*|BRWD3_uc004eeb.2_Nonsense_Mutation_p.K488*	p.K892*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			23	2937	-			892					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	c.2674A>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	T	41	9.143212	0.99080	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.48	4.48	0.54585	.	0.226336	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.3709	13.2235	0.59903	0.0:0.0:0.0:1.0	.	.	.	.	X	892	.	.	K	-	1	0	BRWD3	79846880	1.000000	0.71417	0.979000	0.43373	0.596000	0.36781	5.287000	0.65645	1.762000	0.52044	0.441000	0.28932	AAG		0.348	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		16	444	0	0	0	0	16	444				
BRWD3	254065	broad.mit.edu	37	X	80001189	80001189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:80001189C>T	ENST00000373275.4	-	7	686	c.470G>A	c.(469-471)cGc>cAc	p.R157H		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	157					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATGACCAAAGCGACTACAGCC	0.373																																						uc004edt.2		NA																	0				ovary(4)	4						c.(469-471)CGC>CAC		bromodomain and WD repeat domain containing 3							46.0	41.0	43.0					X																	80001189		2203	4298	6501	SO:0001583	missense	254065							g.chrX:80001189C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.470G>A	X.37:g.80001189C>T	ENSP00000362372:p.Arg157His					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_5'UTR|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_Intron|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.R157H	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			7	733	-			157					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.470G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789157	0.70337	.	.	ENSG00000165288	ENST00000373275	T	0.32023	1.47	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	L	0.52905	1.665	0.54753	D	0.999988	D	0.56521	0.976	B	0.41988	0.372	T	0.04495	-1.0947	9	.	.	.	-5.0478	11.0026	0.47616	0.0:0.9127:0.0:0.0873	.	157	Q6RI45	BRWD3_HUMAN	H	157	ENSP00000362372:R157H	.	R	-	2	0	BRWD3	79887845	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.590000	0.61013	2.294000	0.77228	0.544000	0.68410	CGC		0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		184	15	0	0	0	0	184	15				
POU3F4	5456	broad.mit.edu	37	X	82763808	82763808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:82763808C>T	ENST00000373200.2	+	1	540	c.476C>T	c.(475-477)gCa>gTa	p.A159V	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	159					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCCGCCTCTGCACAGAGCCTG	0.657																																						uc004eeg.2		NA																	0				ovary(1)	1						c.(475-477)GCA>GTA		POU domain, class 3, transcription factor 4							16.0	17.0	17.0					X																	82763808		2202	4298	6500	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763808C>T	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.476C>T	X.37:g.82763808C>T	ENSP00000362296:p.Ala159Val						p.A159V	NM_000307	NP_000298	P49335	PO3F4_HUMAN			1	540	+			159					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.476C>T	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	C	6.409	0.443669	0.12164	.	.	ENSG00000196767	ENST00000373200	D	0.85339	-1.97	4.78	4.78	0.61160	.	0.441099	0.23263	N	0.050115	T	0.69975	0.3171	N	0.08118	0	0.25650	N	0.986107	B	0.11235	0.004	B	0.06405	0.002	T	0.54944	-0.8217	10	0.21014	T	0.42	.	12.8373	0.57780	0.0:0.7812:0.2188:0.0	.	159	P49335	PO3F4_HUMAN	V	159	ENSP00000362296:A159V	ENSP00000362296:A159V	A	+	2	0	POU3F4	82650464	0.972000	0.33761	0.887000	0.34795	0.445000	0.32107	4.854000	0.62918	2.357000	0.79964	0.525000	0.51046	GCA		0.657	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		6	63	0	0	0	0	6	63				
TEX13A	56157	broad.mit.edu	37	X	104463741	104463741	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:104463741C>T	ENST00000413579.1	-	5	1246	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	379							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CAGTCCCAGTCCCCTGGCCTG	0.532																																						uc004ema.2		NA																	0				ovary(2)	2						c.(1135-1137)GAC>AAC		testis expressed sequence 13A							165.0	156.0	159.0					X																	104463741		2135	4237	6372	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104463741C>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1135G>A	X.37:g.104463741C>T	ENSP00000399753:p.Asp379Asn					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_3'UTR	p.D379N	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			5	1247	-			379			RanBP2-type.		B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.1135G>A		.	.	.	.	.	.	.	.	.	.	C	13.52	2.260292	0.39995	.	.	ENSG00000133149	ENST00000413579	D	0.82526	-1.62	3.41	3.41	0.39046	Zinc finger, RanBP2-type (3);	0.000000	0.37393	N	0.002107	D	0.90459	0.7012	M	0.88512	2.96	0.28796	N	0.899029	D	0.89917	1.0	D	0.91635	0.999	D	0.83633	0.0146	10	0.36615	T	0.2	.	9.4677	0.38822	0.0:1.0:0.0:0.0	.	379	Q9BXU3	TX13A_HUMAN	N	379	ENSP00000399753:D379N	ENSP00000399753:D379N	D	-	1	0	TEX13A	104350397	0.445000	0.25657	0.985000	0.45067	0.444000	0.32077	2.722000	0.47269	1.977000	0.57605	0.436000	0.28706	GAC		0.532	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		11	83	0	0	0	0	11	83				
MAGEC1	9947	broad.mit.edu	37	X	140995293	140995293	+	Silent	SNP	A	A	T			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chrX:140995293A>T	ENST00000285879.4	+	4	2389	c.2103A>T	c.(2101-2103)ggA>ggT	p.G701G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	701										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTGAGGGAGAGGACTCCC	0.567										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2101-2103)GGA>GGT		melanoma antigen family C, 1							63.0	65.0	65.0					X																	140995293		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995293A>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2103A>T	X.37:g.140995293A>T		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.G701G	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2389	+	Acute lymphoblastic leukemia(192;6.56e-05)		701					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2103A>T	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		19	43	0	0	0	0	19	43				
CACNA2D4	93589	broad.mit.edu	37	12	1995395	1995405	+	Frame_Shift_Del	DEL	GATATTAATGA	GATATTAATGA	-	rs10735005	byFrequency	TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr12:1995395_1995405delGATATTAATGA	ENST00000382722.5	-	8	1339_1349	c.977_987delTCATTAATATC	c.(976-987)ttcattaatatcfs	p.FINI326fs	CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.FINI326fs|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.FINI326fs|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.FINI262fs|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.FINI262fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	326	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F326F(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTACCGCTATGATATTAATGAAGTCATTCTC	0.498																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(976-987)TTCATTAATATCfs		voltage-gated calcium channel alpha(2)delta-4																																				SO:0001589	frameshift_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1995395_1995405delGATATTAATGA	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.977_987delTCATTAATATC	12.37:g.1995395_1995405delGATATTAATGA	ENSP00000372169:p.Phe326fs					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron	p.F326fs	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	8	1208_1218	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	326_329			VWFA.|Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Frame_Shift_Del	DEL	ENST00000382722.5	37	c.977_987delTCATTAATATC	CCDS44785.1																																																																																				0.498	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			8	38	NA	NA	NA	NA	8	38	---	---	---	---
TRMT5	57570	broad.mit.edu	37	14	61442681	61442696	+	Frame_Shift_Del	DEL	TTCTTTGCTACTGGAA	TTCTTTGCTACTGGAA	-			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr14:61442681_61442696delTTCTTTGCTACTGGAA	ENST00000261249.6	-	4	1325_1340	c.941_956delTTCCAGTAGCAAAGAA	c.(940-957)attccagtagcaaagaaafs	p.IPVAKK314fs	RNU6-398P_ENST00000384143.1_RNA|RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AGTGCAGTTTTTCTTTGCTACTGGAATGGCAAAGGG	0.417																																						uc001xff.3		NA																	0				central_nervous_system(2)|large_intestine(1)	3						c.(940-957)ATTCCAGTAGCAAAGAAAfs		tRNA methyltransferase 5																																				SO:0001589	frameshift_variant	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61442681_61442696delTTCTTTGCTACTGGAA	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.941_956delTTCCAGTAGCAAAGAA	14.37:g.61442681_61442696delTTCTTTGCTACTGGAA	ENSP00000261249:p.Ile314fs						p.I314fs	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	4	1032_1047	-			314_319						Frame_Shift_Del	DEL	ENST00000261249.6	37	c.941_956delTTCCAGTAGCAAAGAA	CCDS32092.1																																																																																				0.417	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081		7	117	NA	NA	NA	NA	7	117	---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2995956	2995966	+	Frame_Shift_Del	DEL	TTGTCCAGGGC	TTGTCCAGGGC	-	rs138671819		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr17:2995956_2995966delTTGTCCAGGGC	ENST00000331459.1	-	1	324_334	c.325_335delGCCCTGGACAA	c.(325-336)gccctggacaacfs	p.ALDN109fs		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	109					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A109T(1)|p.A109A(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGGATGAGGTTGTCCAGGGCCACCAAGGAG	0.54																																						uc010vrb.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(325-336)GCCCTGGACAACfs		olfactory receptor, family 1, subfamily D,																																				SO:0001589	frameshift_variant	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995956_2995966delTTGTCCAGGGC	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.325_335delGCCCTGGACAA	17.37:g.2995956_2995966delTTGTCCAGGGC	ENSP00000327585:p.Ala109fs						p.A109fs	NM_002548	NP_002539	P34982	OR1D2_HUMAN			1	325_335	-			109_112			Helical; Name=3; (Potential).		Q6IFL8|Q96RA4|Q9UM78	Frame_Shift_Del	DEL	ENST00000331459.1	37	c.325_335delGCCCTGGACAA	CCDS11019.1																																																																																				0.540	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		22	73	NA	NA	NA	NA	22	73	---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41086523	41086527	+	Frame_Shift_Del	DEL	GGATC	GGATC	-	rs190370595		TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr19:41086523_41086527delGGATC	ENST00000291842.5	+	8	663_667	c.614_618delGGATC	c.(613-618)tggatcfs	p.WI205fs	SHKBP1_ENST00000600733.1_Frame_Shift_Del_p.WI205fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	205					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCATAATTGGATCGCTGTGGCCT	0.595																																						uc002oob.2		NA																	0				ovary(1)|pancreas(1)	2						c.(613-618)TGGATCfs		SH3KBP1 binding protein 1																																				SO:0001589	frameshift_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41086523_41086527delGGATC	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.614_618delGGATC	19.37:g.41086523_41086527delGGATC	ENSP00000291842:p.Trp205fs					SHKBP1_uc002ooc.2_Frame_Shift_Del_p.W205fs|SHKBP1_uc002ood.2_Frame_Shift_Del_p.W205fs|SHKBP1_uc010xvl.1_Frame_Shift_Del_p.W128fs|SHKBP1_uc002ooe.2_Frame_Shift_Del_p.W42fs|SHKBP1_uc002oof.2_Frame_Shift_Del_p.W42fs|SHKBP1_uc010xvm.1_Frame_Shift_Del_p.W42fs|SHKBP1_uc010xvn.1_Frame_Shift_Del_p.W83fs	p.W205fs	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		8	663_667	+			205_206					Q8N2I6|Q8WY93|Q96IB8	Frame_Shift_Del	DEL	ENST00000291842.5	37	c.614_618delGGATC	CCDS12560.1																																																																																				0.595	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		8	41	NA	NA	NA	NA	8	41	---	---	---	---
SAMHD1	25939	broad.mit.edu	37	20	35580031	35580032	+	In_Frame_Ins	INS	-	-	ATC			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr20:35580031_35580032insATC	ENST00000262878.4	-	1	214_215	c.15_16insGAT	c.(13-18)gattcc>gatGATtcc	p.5_6insD	SAMHD1_ENST00000373694.5_De_novo_Start_InFrame	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	5					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GGCTGCTCGGAATCGGCTCGCT	0.693																																						uc002xgh.1		NA																	0					0						c.(13-18)insGAT		SAM domain- and HD domain-containing protein 1																																				SO:0001652	inframe_insertion	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35580031_35580032insATC	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.13_15dupGAT	20.37:g.35580032_35580034dupATC	ENSP00000262878:p.Asp5_Asp5dup						p.5_6insD	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			1	145_146	-		Myeloproliferative disorder(115;0.00878)	5_6					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	In_Frame_Ins	INS	ENST00000262878.4	37	c.15_16insGAT	CCDS13288.1																																																																																				0.693	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		42	282	NA	NA	NA	NA	42	282	---	---	---	---
MCAT	27349	broad.mit.edu	37	22	43539128	43539128	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7416-01A-11D-2078-08	TCGA-CV-7416-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	80c86be4-ccbe-4bf5-afcf-644cd337d37a	061150b2-1c4a-4126-9e7c-e9088d04db80	g.chr22:43539128delC	ENST00000290429.6	-	1	272	c.227delG	c.(226-228)ggcfs	p.G76fs	MCAT_ENST00000327555.5_Frame_Shift_Del_p.G76fs|MCAT_ENST00000464244.1_5'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	76					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCGGCCCATGCCCACCACCTG	0.746																																						uc003bdl.1		NA																	0				ovary(1)	1						c.(226-228)GGCfs		mitochondrial malonyltransferase isoform a							10.0	12.0	11.0					22																	43539128		2188	4265	6453	SO:0001589	frameshift_variant	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43539128delC	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.227delG	22.37:g.43539128delC	ENSP00000290429:p.Gly76fs					MCAT_uc003bdm.1_Frame_Shift_Del_p.G76fs	p.G76fs	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN			1	276	-		Ovarian(80;0.0694)	76					B0QY72|O95510|O95511	Frame_Shift_Del	DEL	ENST00000290429.6	37	c.227delG	CCDS33660.1																																																																																				0.746	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		2	4	NA	NA	NA	NA	2	4	---	---	---	---
