#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC25A34	284723	broad.mit.edu	37	1	16065758	16065758	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr1:16065758A>G	ENST00000294454.5	+	5	853	c.772A>G	c.(772-774)Atc>Gtc	p.I258V	RP11-288I21.1_ENST00000453804.1_RNA|SLC25A34_ENST00000489568.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_207348.1	NP_997231.1	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	258					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATGGTGAAGATCTGGCGGCA	0.657																																							uc001axb.1		NA																	0					0						c.(772-774)ATC>GTC		solute carrier family 25, member 34							46.0	53.0	50.0					1																	16065758		2201	4300	6501	SO:0001583	missense	284723				transport	integral to membrane|mitochondrial inner membrane		g.chr1:16065758A>G	BC027998	CCDS162.1	1p36.13	2013-05-22			ENSG00000162461	ENSG00000162461		"""Solute carriers"""	27653	protein-coding gene	gene with protein product		610817					Standard	NM_207348		Approved	DKFZp781A10161	uc001axb.1	Q6PIV7	OTTHUMG00000003063	ENST00000294454.5:c.772A>G	1.37:g.16065758A>G	ENSP00000294454:p.Ile258Val					SLC25A34_uc009vok.1_RNA	p.I258V	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	5	944	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	258			Solcar 3.		Q68DV0	Missense_Mutation	SNP	ENST00000294454.5	37	c.772A>G	CCDS162.1	.	.	.	.	.	.	.	.	.	.	A	9.660	1.143782	0.21205	.	.	ENSG00000162461	ENST00000294454	T	0.80653	-1.4	4.36	4.36	0.52297	Mitochondrial carrier domain (2);	0.115252	0.64402	D	0.000014	T	0.63094	0.2482	N	0.21545	0.675	0.33605	D	0.602847	B	0.09022	0.002	B	0.19666	0.026	T	0.58521	-0.7622	10	0.02654	T	1	.	9.085	0.36577	0.9098:0.0:0.0902:0.0	.	258	Q6PIV7	S2534_HUMAN	V	258	ENSP00000294454:I258V	ENSP00000294454:I258V	I	+	1	0	SLC25A34	15938345	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	4.581000	0.60949	1.725000	0.51514	0.379000	0.24179	ATC		0.657	SLC25A34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008467.1	NM_207348		11	58	0	0	0	0.000978159	0	11	58				
CEPT1	10390	broad.mit.edu	37	1	111726191	111726191	+	Missense_Mutation	SNP	T	T	G	rs200390019	byFrequency	TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr1:111726191T>G	ENST00000545121.1	+	8	1321	c.1113T>G	c.(1111-1113)atT>atG	p.I371M	RP5-1180E21.4_ENST00000607951.1_RNA|RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000467362.1_3'UTR|CEPT1_ENST00000357172.4_Missense_Mutation_p.I371M	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	371					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	ATGAATATATTGTACTTTGGA	0.363																																							uc001eah.1		NA																	0					0						c.(1111-1113)ATT>ATG		choline/ethanolaminephosphotransferase	Choline(DB00122)						136.0	140.0	138.0					1																	111726191		2203	4300	6503	SO:0001583	missense	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111726191T>G	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.1113T>G	1.37:g.111726191T>G	ENSP00000441980:p.Ile371Met					CEPT1_uc001eai.1_Missense_Mutation_p.I371M|CEPT1_uc001eaj.1_Missense_Mutation_p.I371M|CEPT1_uc009wfz.1_Missense_Mutation_p.I105M	p.I371M	NM_001007794	NP_001007795	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	8	1321	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	371			Helical; (Potential).		Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	c.1113T>G	CCDS830.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153981	0.38021	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.46063	0.88;0.88	5.93	4.78	0.61160	.	0.227329	0.47455	D	0.000223	T	0.23688	0.0573	L	0.44542	1.39	0.40621	D	0.981768	P	0.38370	0.628	B	0.42188	0.379	T	0.04373	-1.0956	10	0.36615	T	0.2	-12.5117	10.3939	0.44190	0.1512:0.0:0.0:0.8488	.	371	Q9Y6K0	CEPT1_HUMAN	M	371	ENSP00000441980:I371M;ENSP00000349696:I371M	ENSP00000349696:I371M	I	+	3	3	CEPT1	111527714	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.247000	0.32815	1.036000	0.39998	0.533000	0.62120	ATT		0.363	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		8	82	0	0	0	0.000274275	0	8	82				
FCAMR	83953	broad.mit.edu	37	1	207135834	207135834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr1:207135834G>A	ENST00000324852.4	-	5	850	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	FCAMR_ENST00000400962.3_Nonsense_Mutation_p.Q126*|FCAMR_ENST00000486178.1_5'Flank|FCAMR_ENST00000450945.2_Nonsense_Mutation_p.Q126*	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	81	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TAATGGCACTGGATGGTGACA	0.557																																					Ovarian(199;1883 2142 16966 44409 45154)	Ovarian(199;1883 2142 16966 44409 45154)	uc001hfa.3		NA																	0				ovary(1)	1						c.(376-378)CAG>TAG		Fc receptor, IgA, IgM, high affinity isoform 2							33.0	33.0	33.0					1																	207135834		1568	3582	5150	SO:0001587	stop_gained	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207135834G>A	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.376C>T	1.37:g.207135834G>A	ENSP00000316491:p.Gln126*					FCAMR_uc001hfb.2_Nonsense_Mutation_p.Q126*|FCAMR_uc009xca.1_Nonsense_Mutation_p.Q126*|FCAMR_uc001hfc.2_Nonsense_Mutation_p.Q101*	p.Q126*	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN			5	876	-			81			Mediates immunoglobulin Fc fragment- binding (By similarity).|Extracellular (Potential).|Ig-like V-type.		Q32M82|Q8WWV5|Q96SA2	Nonsense_Mutation	SNP	ENST00000324852.4	37	c.376C>T	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	G	38	6.880366	0.97904	.	.	ENSG00000162897	ENST00000400962;ENST00000324852;ENST00000450945;ENST00000367087	.	.	.	5.32	2.29	0.28610	.	1.411410	0.04410	N	0.365893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	0.0215	6.0875	0.19975	0.0:0.249:0.4352:0.3158	.	.	.	.	X	126;126;126;102	.	ENSP00000316491:Q126X	Q	-	1	0	FCAMR	205202457	0.612000	0.27000	0.893000	0.35052	0.960000	0.62799	0.687000	0.25407	1.158000	0.42547	0.655000	0.94253	CAG		0.557	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		6	24	0	0	0	0.00116845	0	6	24				
R3HCC1L	27291	broad.mit.edu	37	10	99968660	99968660	+	Silent	SNP	C	C	T			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr10:99968660C>T	ENST00000298999.3	+	5	1092	c.789C>T	c.(787-789)ggC>ggT	p.G263G	R3HCC1L_ENST00000370584.3_Silent_p.G263G|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	263							nucleotide binding (GO:0000166)										GCAGCGGAGGCATCACCACTA	0.403																																							uc001kow.3		NA																	0				large_intestine(1)|skin(1)	2						c.(787-789)GGC>GGT		growth inhibition and differentiation related							104.0	99.0	101.0					10																	99968660		2203	4300	6503	SO:0001819	synonymous_variant	27291						nucleotide binding	g.chr10:99968660C>T	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.789C>T	10.37:g.99968660C>T						C10orf28_uc001kox.3_Silent_p.G263G|C10orf28_uc001koy.3_Silent_p.G263G|C10orf28_uc009xvx.2_Silent_p.G263G|C10orf28_uc009xvy.2_Intron|C10orf28_uc001koz.3_Intron	p.G263G	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)	4	1084	+		Colorectal(252;0.234)	263					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	c.789C>T	CCDS31267.1																																																																																				0.403	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		5	64	0	0	0	0.00116845	0	5	64				
FAM178A	55719	broad.mit.edu	37	10	102697161	102697161	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr10:102697161G>A	ENST00000238961.4	+	10	2981	c.2439G>A	c.(2437-2439)atG>atA	p.M813I	FAM178A_ENST00000370269.3_Missense_Mutation_p.M813I	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	813						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TTTGACAGATGATGTCAGTTC	0.308																																							uc001krt.3		NA																	0					0						c.(2437-2439)ATG>ATA		hypothetical protein LOC55719 isoform 1							149.0	144.0	146.0					10																	102697161		2202	4300	6502	SO:0001583	missense	55719							g.chr10:102697161G>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2439G>A	10.37:g.102697161G>A	ENSP00000238961:p.Met813Ile					FAM178A_uc001krs.2_Missense_Mutation_p.M813I	p.M813I	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			10	2981	+			813					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.2439G>A	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975847	0.53720	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.35236	1.33;1.32	5.97	5.97	0.96955	.	0.099989	0.64402	D	0.000002	T	0.28764	0.0713	L	0.27053	0.805	0.45354	D	0.998347	B;B	0.33637	0.42;0.42	B;B	0.35240	0.198;0.198	T	0.04621	-1.0938	10	0.37606	T	0.19	-16.0587	13.9054	0.63831	0.0:0.0:0.8477:0.1522	.	813;813	Q8IX21;B1AL17	F178A_HUMAN;.	I	813	ENSP00000238961:M813I;ENSP00000359292:M813I	ENSP00000238961:M813I	M	+	3	0	FAM178A	102687151	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.067000	0.64357	2.833000	0.97629	0.585000	0.79938	ATG		0.308	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			8	158	0	0	0	0.000157383	0	8	158				
OR51A7	119687	broad.mit.edu	37	11	4929446	4929446	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr11:4929446C>T	ENST00000359350.4	+	1	847	c.847C>T	c.(847-849)Ccg>Tcg	p.P283S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGTTGGTGCCGCCCCTTAT	0.458																																							uc010qyq.1		NA																	0				ovary(1)|skin(1)	2						c.(847-849)CCG>TCG		olfactory receptor, family 51, subfamily A,							163.0	155.0	157.0					11																	4929446		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929446C>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.847C>T	11.37:g.4929446C>T	ENSP00000352305:p.Pro283Ser						p.P283S	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	847	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	283			Helical; Name=7; (Potential).		Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.847C>T	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347328	0.61183	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.35048	1.33	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000252	T	0.64427	0.2597	M	0.84326	2.69	0.47009	D	0.999289	D	0.89917	1.0	D	0.97110	1.0	T	0.69899	-0.5020	10	0.87932	D	0	.	17.069	0.86568	0.0:1.0:0.0:0.0	.	283	Q8NH64	O51A7_HUMAN	S	283;283;272	ENSP00000352305:P283S	ENSP00000352305:P283S	P	+	1	0	OR51A7	4886022	0.843000	0.29541	0.990000	0.47175	0.314000	0.28054	3.121000	0.50438	2.596000	0.87737	0.655000	0.94253	CCG		0.458	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		21	123	0	0	0	0.000295444	0	21	123				
AHNAK	79026	broad.mit.edu	37	11	62295599	62295599	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr11:62295599T>C	ENST00000378024.4	-	5	6564	c.6290A>G	c.(6289-6291)gAa>gGa	p.E2097G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2097					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCTTCCCTTCTGGACCTTC	0.532																																							uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(6289-6291)GAA>GGA		AHNAK nucleoprotein isoform 1							171.0	178.0	176.0					11																	62295599		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295599T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6290A>G	11.37:g.62295599T>C	ENSP00000367263:p.Glu2097Gly					AHNAK_uc001ntk.1_Intron	p.E2097G	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	6590	-		Melanoma(852;0.155)	2097					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6290A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	11.28	1.593118	0.28357	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01295	5.04	3.99	3.99	0.46301	.	.	.	.	.	T	0.03095	0.0091	M	0.79693	2.465	0.41058	D	0.985357	P	0.35923	0.528	B	0.33620	0.167	T	0.39563	-0.9608	9	0.59425	D	0.04	.	12.5694	0.56328	0.0:0.0:0.0:1.0	.	2097	Q09666	AHNK_HUMAN	G	186;2097	ENSP00000367263:E2097G	ENSP00000244934:E186G	E	-	2	0	AHNAK	62052175	0.916000	0.31088	0.221000	0.23827	0.804000	0.45430	4.410000	0.59774	1.447000	0.47661	0.248000	0.18094	GAA		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	329	0	0	0	0.000602214	0	5	329				
KCNH3	23416	broad.mit.edu	37	12	49950989	49950989	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr12:49950989C>T	ENST00000257981.6	+	14	2859	c.2599C>T	c.(2599-2601)Cat>Tat	p.H867Y	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	867					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CACTGTTCCCCATGGGCCCAG	0.627																																							uc001ruh.1		NA																	0					0						c.(2599-2601)CAT>TAT		potassium voltage-gated channel, subfamily H							61.0	58.0	59.0					12																	49950989		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49950989C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2599C>T	12.37:g.49950989C>T	ENSP00000257981:p.His867Tyr					KCNH3_uc010smj.1_Missense_Mutation_p.H807Y	p.H867Y	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			14	2859	+			867			Cytoplasmic (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.2599C>T	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.352568	0.01256	.	.	ENSG00000135519	ENST00000257981	D	0.98617	-5.03	5.69	2.64	0.31445	.	0.517026	0.13996	N	0.348438	D	0.93462	0.7914	N	0.08118	0	0.09310	N	0.999997	B	0.12013	0.005	B	0.12156	0.007	D	0.88102	0.2820	10	0.48119	T	0.1	.	3.3268	0.07070	0.179:0.5533:0.1733:0.0945	.	867	Q9ULD8	KCNH3_HUMAN	Y	867	ENSP00000257981:H867Y	ENSP00000257981:H867Y	H	+	1	0	KCNH3	48237256	0.001000	0.12720	0.072000	0.20136	0.958000	0.62258	0.152000	0.16302	0.716000	0.32124	0.561000	0.74099	CAT		0.627	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		17	49	0	0	0	0.000566183	0	17	49				
SLC17A8	246213	broad.mit.edu	37	12	100811839	100811839	+	Missense_Mutation	SNP	C	C	T	rs374159026		TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr12:100811839C>T	ENST00000323346.5	+	11	1643	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.R394C	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	444					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CATTGCCCCACGCTATGCCAG	0.458																																							uc010svi.1		NA																	0				ovary(3)	3						c.(1330-1332)CGC>TGC		solute carrier family 17 (sodium-dependent		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	177.0	162.0	167.0		1180,1330	4.7	0.9	12		167	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC17A8	NM_001145288.1,NM_139319.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	394/540,444/590	100811839	1,13005	2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100811839C>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1330C>T	12.37:g.100811839C>T	ENSP00000316909:p.Arg444Cys					SLC17A8_uc009ztx.2_Missense_Mutation_p.R394C	p.R444C	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			11	1643	+			444			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1330C>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325437	0.81580	0.0	1.16E-4	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.54675	0.56;0.56	5.55	4.66	0.58398	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.048349	0.85682	N	0.000000	T	0.76751	0.4031	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.79108	0.992;0.685	T	0.81075	-0.1097	10	0.87932	D	0	.	9.498	0.38999	0.1422:0.786:0.0:0.0719	.	444;394	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	C	444;394	ENSP00000316909:R444C;ENSP00000376715:R394C	ENSP00000316909:R444C	R	+	1	0	SLC17A8	99335970	0.994000	0.37717	0.866000	0.34008	0.985000	0.73830	3.177000	0.50871	1.472000	0.48140	0.655000	0.94253	CGC		0.458	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		9	120	0	0	0	0.000978159	0	9	120				
SACS	26278	broad.mit.edu	37	13	23910594	23910594	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr13:23910594A>T	ENST00000382292.3	-	9	7694	c.7421T>A	c.(7420-7422)aTa>aAa	p.I2474K	SACS_ENST00000402364.1_Missense_Mutation_p.I1724K|SACS_ENST00000382298.3_Missense_Mutation_p.I2474K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2474					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTTACTTTTATCCAAGGGCA	0.378																																							uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(7420-7422)ATA>AAA		sacsin							116.0	115.0	115.0					13																	23910594		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23910594A>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7421T>A	13.37:g.23910594A>T	ENSP00000371729:p.Ile2474Lys					SACS_uc001uoo.2_Missense_Mutation_p.I2327K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.I2474K	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	8010	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2474					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.7421T>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041964	0.75732	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.92299	-3.01;-3.01;-3.01	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.94860	0.8339	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	D	0.64687	0.928	D	0.95356	0.8451	10	0.87932	D	0	.	15.7766	0.78224	1.0:0.0:0.0:0.0	.	2474	Q9NZJ4	SACS_HUMAN	K	2474;1724;2474	ENSP00000371729:I2474K;ENSP00000385844:I1724K;ENSP00000371735:I2474K	ENSP00000371729:I2474K	I	-	2	0	SACS	22808594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.143000	0.66587	0.459000	0.35465	ATA		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		14	81	0	0	0	0.000219431	0	14	81				
HCN4	10021	broad.mit.edu	37	15	73617439	73617439	+	Missense_Mutation	SNP	C	C	T	rs528148663	byFrequency	TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr15:73617439C>T	ENST00000261917.3	-	6	2828	c.1835G>A	c.(1834-1836)cGt>cAt	p.R612H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	612					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GACCTCGAAACGCAGCTTGGT	0.552													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21544	0.0		0.0	False		,,,				2504	0.0						uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(1834-1836)CGT>CAT		hyperpolarization activated cyclic							147.0	122.0	130.0					15																	73617439		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73617439C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1835G>A	15.37:g.73617439C>T	ENSP00000261917:p.Arg612His						p.R612H	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	6	2829	-			612			Cytoplasmic (Potential).|cAMP.		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1835G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224100	0.58668	.	.	ENSG00000138622	ENST00000261917	D	0.96802	-4.13	3.65	2.71	0.32032	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	.	.	.	.	D	0.94676	0.8283	M	0.75777	2.31	0.53688	D	0.999974	B	0.17268	0.021	B	0.06405	0.002	D	0.92210	0.5775	9	0.87932	D	0	.	9.8739	0.41191	0.0:0.8217:0.0:0.1783	.	612	Q9Y3Q4	HCN4_HUMAN	H	612	ENSP00000261917:R612H	ENSP00000261917:R612H	R	-	2	0	HCN4	71404492	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.551000	0.45820	0.720000	0.32209	0.561000	0.74099	CGT		0.552	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		15	96	0	0	0	0.000566183	0	15	96				
IL16	3603	broad.mit.edu	37	15	81575076	81575076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr15:81575076C>T	ENST00000302987.4	+	8	1178	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	IL16_ENST00000394660.2_Missense_Mutation_p.A393V			Q14005	IL16_HUMAN	interleukin 16	393	Interaction with GRIN2A.|PDZ 2. {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						GGATCCGTGGCGCACCTGGAC	0.557																																							uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1177-1179)GCG>GTG		interleukin 16 isoform 2							176.0	184.0	181.0					15																	81575076		2139	4249	6388	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.chr15:81575076C>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.1178C>T	15.37:g.81575076C>T	ENSP00000302935:p.Ala393Val					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.A393V|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.A435V|IL16_uc002bgg.2_Missense_Mutation_p.A393V|IL16_uc002bgi.1_5'UTR	p.A393V	NM_172217	NP_757366	Q14005	IL16_HUMAN			9	1554	+			393			PDZ 2.|Interaction with GRIN2A.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.1178C>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590362	0.86851	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.41758	0.99;0.99	5.46	5.46	0.80206	PDZ/DHR/GLGF (3);	0.000000	0.44285	D	0.000468	T	0.66528	0.2798	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65796	-0.6081	10	0.44086	T	0.13	.	19.3014	0.94145	0.0:1.0:0.0:0.0	.	393;393	Q14005;Q14005-2	IL16_HUMAN;.	V	393;393;225;393	ENSP00000378155:A393V;ENSP00000302935:A393V	ENSP00000302935:A393V	A	+	2	0	IL16	79362131	1.000000	0.71417	0.991000	0.47740	0.516000	0.34256	5.065000	0.64344	2.557000	0.86248	0.591000	0.81541	GCG		0.557	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		23	228	0	0	0	0.000878237	0	23	228				
PDILT	204474	broad.mit.edu	37	16	20384335	20384335	+	Splice_Site	SNP	T	T	C			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr16:20384335T>C	ENST00000302451.4	-	6	1039	c.791A>G	c.(790-792)gAg>gGg	p.E264G		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	264					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTCACTGACCTCAGTGTTGTA	0.443																																							uc002dhc.1		NA																	0				large_intestine(1)	1						c.(790-792)GAG>GGG		protein disulfide isomerase-like, testis							174.0	166.0	169.0					16																	20384335		2203	4300	6503	SO:0001630	splice_region_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20384335T>C		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.792+1A>G	16.37:g.20384335T>C							p.E264G	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			6	1014	-			264					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.791A>G	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.591469	0.46214	.	.	ENSG00000169340	ENST00000302451	T	0.36157	1.27	4.91	3.8	0.43715	Thioredoxin-like fold (3);	0.221242	0.46442	D	0.000281	T	0.42743	0.1216	M	0.71581	2.175	0.37273	D	0.907488	P	0.43578	0.811	P	0.46419	0.516	T	0.50659	-0.8802	10	0.62326	D	0.03	.	8.6816	0.34212	0.0:0.0:0.1923:0.8077	.	264	Q8N807	PDILT_HUMAN	G	264	ENSP00000305465:E264G	ENSP00000305465:E264G	E	-	2	0	PDILT	20291836	0.998000	0.40836	0.951000	0.38953	0.308000	0.27856	2.644000	0.46613	0.865000	0.35603	0.460000	0.39030	GAG		0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	Missense_Mutation	6	98	0	0	0	0.00116845	0	6	98				
WRAP53	55135	broad.mit.edu	37	17	7593016	7593016	+	Silent	SNP	A	A	G			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr17:7593016A>G	ENST00000316024.5	+	3	2987	c.639A>G	c.(637-639)gaA>gaG	p.E213E	TP53_ENST00000455263.2_5'Flank|WRAP53_ENST00000457584.2_Silent_p.E213E|WRAP53_ENST00000396463.2_Silent_p.E213E|TP53_ENST00000445888.2_5'Flank|WRAP53_ENST00000534050.1_Silent_p.E180E|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000420246.2_5'Flank|WRAP53_ENST00000431639.2_Silent_p.E213E			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	213					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						AATATGCAGAAATGGTAAGGA	0.463																																							uc010vuh.1		NA																	0					0						c.(637-639)GAA>GAG		WD repeat domain 79 isoform 2							54.0	52.0	52.0					17																	7593016		2203	4300	6503	SO:0001819	synonymous_variant	55135				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	g.chr17:7593016A>G	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.639A>G	17.37:g.7593016A>G						WRAP53_uc010vui.1_Silent_p.E213E|WRAP53_uc002gip.2_Silent_p.E213E|WRAP53_uc002gir.2_Silent_p.E213E|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.E180E|TP53_uc010cnh.1_5'Flank|TP53_uc010cni.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.1_5'Flank|TP53_uc010cnk.1_5'Flank	p.E213E	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN			4	794	+			213					B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	c.639A>G	CCDS11119.1																																																																																				0.463	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259385.2	NM_018081		10	36	0	0	0	0.000442599	0	10	36				
NSF	4905	broad.mit.edu	37	17	44788352	44788352	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr17:44788352T>G	ENST00000398238.4	+	14	1601	c.1494T>G	c.(1492-1494)gaT>gaG	p.D498E	NSF_ENST00000225282.8_Missense_Mutation_p.D404E|NSF_ENST00000575068.1_Missense_Mutation_p.D493E	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	498					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		ACCAAGAAGATTATGCAAGTT	0.398																																					Ovarian(25;472 742 1472 36813 50223)	Ovarian(25;472 742 1472 36813 50223)	uc002iku.2		NA																	0				ovary(1)	1						c.(1492-1494)GAT>GAG		vesicle-fusing ATPase							84.0	81.0	82.0					17																	44788352		1909	4135	6044	SO:0001583	missense	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44788352T>G		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1494T>G	17.37:g.44788352T>G	ENSP00000381293:p.Asp498Glu					NSF_uc010wke.1_Missense_Mutation_p.D404E|NSF_uc010wkf.1_Missense_Mutation_p.D404E|NSF_uc010wkg.1_Missense_Mutation_p.D493E	p.D498E	NM_006178	NP_006169	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	14	1598	+		Melanoma(429;0.203)	498					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	ENST00000398238.4	37	c.1494T>G	CCDS42354.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.396508	0.01175	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	T;T	0.39592	1.07;1.07	5.61	0.82	0.18793	.	0.101615	0.64402	D	0.000003	T	0.17916	0.0430	N	0.17278	0.47	0.44227	D	0.997068	B	0.02656	0.0	B	0.01281	0.0	T	0.26744	-1.0094	10	0.02654	T	1	-7.3539	5.6525	0.17625	0.0:0.353:0.1414:0.5057	.	498	P46459	NSF_HUMAN	E	498;404	ENSP00000381293:D498E;ENSP00000225282:D404E	ENSP00000225282:D404E	D	+	3	2	NSF	42143535	1.000000	0.71417	0.997000	0.53966	0.041000	0.13682	1.106000	0.31098	0.059000	0.16252	-0.256000	0.11100	GAT		0.398	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		5	79	0	0	0	0.000602214	0	5	79				
DSC3	1825	broad.mit.edu	37	18	28604352	28604352	+	Silent	SNP	T	T	G			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr18:28604352T>G	ENST00000360428.4	-	6	818	c.738A>C	c.(736-738)gcA>gcC	p.A246A	DSC3_ENST00000434452.1_Silent_p.A246A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	246	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AATTATAAATTGCTTCTGTGA	0.368																																							uc002kwj.3		NA																	0				ovary(2)|skin(2)	4						c.(736-738)GCA>GCC		desmocollin 3 isoform Dsc3a preproprotein							72.0	78.0	76.0					18																	28604352		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28604352T>G	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.738A>C	18.37:g.28604352T>G						DSC3_uc002kwi.3_Silent_p.A246A	p.A246A	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		6	893	-			246			Extracellular (Potential).|Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.738A>C	CCDS32810.1																																																																																				0.368	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		6	33	0	0	0	0.000157383	0	6	33				
UNC13A	23025	broad.mit.edu	37	19	17750669	17750669	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr19:17750669T>C	ENST00000519716.2	-	23	2835	c.2836A>G	c.(2836-2838)Att>Gtt	p.I946V	UNC13A_ENST00000551649.1_Missense_Mutation_p.I946V|UNC13A_ENST00000252773.7_Missense_Mutation_p.I946V|UNC13A_ENST00000428389.2_Missense_Mutation_p.I1034V|UNC13A_ENST00000552293.1_Missense_Mutation_p.I946V|UNC13A_ENST00000550896.1_Missense_Mutation_p.I944V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	946					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GAGAGGTCAATCCGCAGGGAG	0.577																																							uc002nhd.2		NA																	0				ovary(3)	3						c.(3100-3102)ATT>GTT		unc-13 homolog A							94.0	93.0	93.0					19																	17750669		2083	4221	6304	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17750669T>C	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2836A>G	19.37:g.17750669T>C	ENSP00000429562:p.Ile946Val						p.I1034V	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			23	3100	-			946					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.3100A>G	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	T	18.31	3.594853	0.66219	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.82526	-1.6;-1.62;-1.6;-1.47;-1.49;-1.61	3.05	3.05	0.35203	.	0.064498	0.64402	U	0.000014	D	0.88614	0.6484	M	0.82056	2.57	0.44677	D	0.997667	D	0.59767	0.986	P	0.62560	0.904	D	0.88955	0.3389	10	0.72032	D	0.01	-2.9379	9.5291	0.39182	0.0:0.0:0.0:1.0	.	946	Q9UPW8	UN13A_HUMAN	V	946;1034;946;946;946;944	ENSP00000429562:I946V;ENSP00000400409:I1034V;ENSP00000252773:I946V;ENSP00000447236:I946V;ENSP00000447572:I946V;ENSP00000446831:I944V	ENSP00000252773:I946V	I	-	1	0	UNC13A	17611669	1.000000	0.71417	0.991000	0.47740	0.938000	0.57974	7.506000	0.81665	1.410000	0.46936	0.254000	0.18369	ATT		0.577	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		12	49	0	0	0	0.000308642	0	12	49				
PRODH2	58510	broad.mit.edu	37	19	36297459	36297459	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr19:36297459G>A	ENST00000301175.3	-	8	1119	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	368					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGGCCCTGTGCGCAGCCTCT	0.637																																							uc002obx.1		NA																	0				ovary(2)	2						c.(1102-1104)CAC>TAC		kidney and liver proline oxidase 1							94.0	88.0	90.0					19																	36297459		2203	4300	6503	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36297459G>A	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.1102C>T	19.37:g.36297459G>A	ENSP00000301175:p.His368Tyr						p.H368Y	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1120	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		368						Missense_Mutation	SNP	ENST00000301175.3	37	c.1102C>T	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400849	0.25291	.	.	ENSG00000250799	ENST00000301175	T	0.32515	1.45	5.06	4.03	0.46877	Proline dehydrogenase (1);	.	.	.	.	T	0.26122	0.0637	L	0.39898	1.24	0.09310	N	0.999997	P	0.41498	0.752	B	0.38655	0.278	T	0.11916	-1.0568	9	0.72032	D	0.01	.	9.8244	0.40903	0.0:0.5681:0.4319:0.0	.	368	Q9UF12	PROD2_HUMAN	Y	368	ENSP00000301175:H368Y	ENSP00000301175:H368Y	H	-	1	0	PRODH2	40989299	0.443000	0.25641	0.638000	0.29380	0.010000	0.07245	3.106000	0.50322	1.366000	0.46076	0.591000	0.81541	CAC		0.637	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		8	203	0	0	0	0.000274275	0	8	203				
CD33	945	broad.mit.edu	37	19	51729239	51729239	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr19:51729239C>G	ENST00000262262.4	+	3	620	c.599C>G	c.(598-600)aCc>aGc	p.T200S	CD33_ENST00000391796.3_Missense_Mutation_p.T200S|CD33_ENST00000436584.2_Missense_Mutation_p.T73S|CD33_ENST00000421133.2_Missense_Mutation_p.T73S	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	200	Ig-like C2-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTCATAATCACCCCACGGCCC	0.617																																							uc002pwa.2		NA																	0					0						c.(598-600)ACC>AGC		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						65.0	61.0	62.0					19																	51729239		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51729239C>G	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.599C>G	19.37:g.51729239C>G	ENSP00000262262:p.Thr200Ser					CD33_uc010eos.1_Missense_Mutation_p.T200S|CD33_uc010eot.1_Missense_Mutation_p.T73S|CD33_uc010eou.1_RNA	p.T200S	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	3	639	+		all_neural(266;0.0199)	200			Extracellular (Potential).|Ig-like C2-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.599C>G	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	9.561	1.118381	0.20877	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	3.08	-2.59	0.06209	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.34628	U	0.003812	T	0.34803	0.0910	M	0.85777	2.775	0.09310	N	1	P;B;B	0.41313	0.745;0.187;0.023	P;B;B	0.55303	0.773;0.129;0.029	T	0.25779	-1.0122	10	0.59425	D	0.04	.	3.6421	0.08170	0.0:0.4256:0.1929:0.3816	.	73;200;200	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	S	73;200;73;200	ENSP00000403331:T73S;ENSP00000262262:T200S;ENSP00000410126:T73S;ENSP00000375673:T200S	ENSP00000262262:T200S	T	+	2	0	CD33	56421051	0.007000	0.16637	0.001000	0.08648	0.015000	0.08874	-0.195000	0.09546	-0.537000	0.06290	-0.379000	0.06801	ACC		0.617	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		4	87	0	0	0	0.00024832	0	4	87				
MTIF2	4528	broad.mit.edu	37	2	55481241	55481241	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr2:55481241A>C	ENST00000263629.4	-	7	915	c.600T>G	c.(598-600)ttT>ttG	p.F200L	MTIF2_ENST00000394600.3_Missense_Mutation_p.F200L|MTIF2_ENST00000446660.1_5'Flank|MTIF2_ENST00000403721.1_Missense_Mutation_p.F200L	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	200	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GAGTTTTTCGAAATTTGTCAA	0.453																																							uc002ryn.2		NA																	0				ovary(1)	1						c.(598-600)TTT>TTG		mitochondrial translational initiation factor 2							106.0	94.0	98.0					2																	55481241		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55481241A>C	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.600T>G	2.37:g.55481241A>C	ENSP00000263629:p.Phe200Leu					MTIF2_uc010yox.1_Intron|MTIF2_uc002ryo.2_Missense_Mutation_p.F200L	p.F200L	NM_001005369	NP_001005369	P46199	IF2M_HUMAN			8	1337	-			200			G-domain.		D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.600T>G	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	A	8.270	0.813212	0.16537	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.18016	2.24;2.24;2.24	5.76	3.76	0.43208	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.073103	0.56097	N	0.000025	T	0.02848	0.0085	N	0.00219	-1.825	0.23454	N	0.997644	B	0.02656	0.0	B	0.01281	0.0	T	0.40232	-0.9574	10	0.07175	T	0.84	-4.1663	5.7803	0.18301	0.3907:0.4501:0.0:0.1592	.	200	P46199	IF2M_HUMAN	L	200	ENSP00000384481:F200L;ENSP00000263629:F200L;ENSP00000378099:F200L	ENSP00000263629:F200L	F	-	3	2	MTIF2	55334745	0.931000	0.31567	1.000000	0.80357	0.993000	0.82548	0.131000	0.15870	0.598000	0.29829	0.533000	0.62120	TTT		0.453	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		5	58	0	0	0	0.000602214	0	5	58				
GLI2	2736	broad.mit.edu	37	2	121736058	121736058	+	Missense_Mutation	SNP	C	C	T	rs370251398		TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr2:121736058C>T	ENST00000452319.1	+	10	1477	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.R145C|GLI2_ENST00000361492.4_Missense_Mutation_p.R473C					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GTTTGTGTGCCGCTGGCAGGC	0.627																																							uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(1417-1419)CGC>TGC		GLI-Kruppel family member GLI2		C	CYS/ARG	0,4406		0,0,2203	138.0	132.0	134.0		1417	4.0	1.0	2		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLI2	NM_005270.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	473/1587	121736058	1,13005	2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121736058C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1417C>T	2.37:g.121736058C>T	ENSP00000390436:p.Arg473Cys					GLI2_uc002tmq.1_Missense_Mutation_p.R145C|GLI2_uc002tmr.1_Missense_Mutation_p.R128C|GLI2_uc002tmt.3_Missense_Mutation_p.R145C|GLI2_uc002tmu.3_Missense_Mutation_p.R128C|GLI2_uc002tmw.1_Missense_Mutation_p.R456C	p.R473C	NM_005270	NP_005261	P10070	GLI2_HUMAN			9	1447	+	Renal(3;0.0496)	Prostate(154;0.0623)	473						Missense_Mutation	SNP	ENST00000452319.1	37	c.1417C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083763	0.94050	0.0	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.91894	-2.93;-2.93;-2.93	4.03	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.115971	0.64402	D	0.000011	D	0.95752	0.8618	M	0.78456	2.415	0.80722	D	1	D;D;D;D;B	0.89917	0.998;1.0;0.998;0.999;0.238	P;D;P;P;B	0.80764	0.714;0.994;0.804;0.888;0.094	D	0.96462	0.9342	10	0.87932	D	0	.	16.6998	0.85346	0.0:1.0:0.0:0.0	.	473;456;128;128;145	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	C	473;473;145	ENSP00000390436:R473C;ENSP00000354586:R473C;ENSP00000312694:R145C	ENSP00000312694:R145C	R	+	1	0	GLI2	121452528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.568000	0.82369	2.249000	0.74217	0.491000	0.48974	CGC		0.627	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	184	0	0	0	0.000978159	0	7	184				
TTN	7273	broad.mit.edu	37	2	179459289	179459289	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr2:179459289T>C	ENST00000591111.1	-	246	53233	c.53009A>G	c.(53008-53010)gAt>gGt	p.D17670G	TTN_ENST00000359218.5_Missense_Mutation_p.D10371G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10246G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10438G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D19311G|TTN_ENST00000342992.6_Missense_Mutation_p.D16743G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17670	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACCCACCATCATACTTAGG	0.388																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(50227-50229)GAT>GGT		titin isoform N2-A							120.0	115.0	116.0					2																	179459289		1832	4085	5917	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179459289T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53009A>G	2.37:g.179459289T>C	ENSP00000465570:p.Asp17670Gly					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D10438G|TTN_uc010zfi.1_Missense_Mutation_p.D10371G|TTN_uc010zfj.1_Missense_Mutation_p.D10246G	p.D16743G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		245	50452	-			17670					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50228A>G		.	.	.	.	.	.	.	.	.	.	T	15.97	2.991189	0.54041	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77718	0.4172	M	0.94101	3.495	0.58432	D	0.999992	P;P;P;P	0.52692	0.955;0.955;0.955;0.955	P;P;P;P	0.52424	0.698;0.698;0.698;0.698	D	0.84175	0.0436	9	0.87932	D	0	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	10246;10371;10438;17670	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	16743;10246;10438;10371;10244	ENSP00000343764:D16743G;ENSP00000434586:D10246G;ENSP00000340554:D10438G;ENSP00000352154:D10371G	ENSP00000340554:D10438G	D	-	2	0	TTN	179167535	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.980000	0.88113	2.302000	0.77476	0.533000	0.62120	GAT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	116	0	0	0	6.4e-05	0	3	116				
GIGYF2	26058	broad.mit.edu	37	2	233715054	233715054	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr2:233715054A>G	ENST00000409547.1	+	30	4078	c.3767A>G	c.(3766-3768)gAg>gGg	p.E1256G	GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1250G|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1278G|GIGYF2_ENST00000373566.3_Missense_Mutation_p.E1278G|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1256G|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1277G	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1256					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCCAATTTTGAGGCTGTGCAG	0.463																																							uc002vti.3		NA																	0				ovary(4)|central_nervous_system(3)	7						c.(3766-3768)GAG>GGG		GRB10 interacting GYF protein 2 isoform b							169.0	150.0	157.0					2																	233715054		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233715054A>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3767A>G	2.37:g.233715054A>G	ENSP00000386537:p.Glu1256Gly					GIGYF2_uc002vtj.3_Missense_Mutation_p.E1277G|GIGYF2_uc002vtk.3_Missense_Mutation_p.E1256G|GIGYF2_uc002vth.3_Missense_Mutation_p.E1250G|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc002vtq.3_Missense_Mutation_p.E589G	p.E1256G	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	30	4104	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1256					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3767A>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.030706	0.75504	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.986;0.986	T	0.68891	-0.5289	10	0.06365	T	0.9	-22.5876	16.2484	0.82467	1.0:0.0:0.0:0.0	.	1277;1256;1250	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	G	1278;1256;1278;1256;1250;1277	ENSP00000362667:E1278G;ENSP00000362664:E1256G;ENSP00000386765:E1278G;ENSP00000386537:E1256G;ENSP00000387070:E1250G;ENSP00000387170:E1277G	ENSP00000362664:E1256G	E	+	2	0	GIGYF2	233423298	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.900000	0.87376	2.291000	0.77112	0.533000	0.62120	GAG		0.463	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		3	70	0	0	0	0.00024832	0	3	70				
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	50								p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333																																							uc010ztl.1		NA																	2	Substitution - Missense(2)		kidney(2)		0						c.(58-60)CTT>CCT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29625905T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.149T>C	20.37:g.29625905T>C	ENSP00000278882:p.Leu50Pro					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron	p.L20P							2	91	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.59T>C		.	.	.	.	.	.	.	.	.	.	t	10.74	1.434729	0.25813	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56611	0.45	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	55	F5H5R5	.	P	50;55;50	ENSP00000408863:L55P	ENSP00000278882:L50P	L	+	2	0	FRG1B	28239566	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	CTT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	67	0	0	0	8.12818e-05	0	6	67				
BPIFB2	80341	broad.mit.edu	37	20	31604887	31604887	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr20:31604887G>A	ENST00000170150.3	+	7	751	c.556G>A	c.(556-558)Gtc>Atc	p.V186I		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	186						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GGGTGTCAATGTCCACCTGGG	0.622																																							uc002wyj.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(556-558)GTC>ATC		bactericidal/permeability-increasing							99.0	100.0	100.0					20																	31604887		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31604887G>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.556G>A	20.37:g.31604887G>A	ENSP00000170150:p.Val186Ile						p.V186I	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			7	750	+			186					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.556G>A	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510150	0.27036	.	.	ENSG00000078898	ENST00000170150	T	0.04502	3.61	4.07	3.13	0.36017	.	0.000000	0.47852	D	0.000201	T	0.10208	0.0250	L	0.36672	1.1	0.27536	N	0.950935	D	0.71674	0.998	D	0.70227	0.968	T	0.05683	-1.0870	10	0.37606	T	0.19	-30.5165	7.8228	0.29296	0.1119:0.0:0.8881:0.0	.	186	Q8N4F0	BPIB2_HUMAN	I	186	ENSP00000170150:V186I	ENSP00000170150:V186I	V	+	1	0	BPIFB2	31068548	0.079000	0.21365	0.743000	0.31040	0.254000	0.26022	0.847000	0.27696	1.314000	0.45095	0.561000	0.74099	GTC		0.622	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		27	125	0	0	0	0.00106085	0	27	125				
POTEH	23784	broad.mit.edu	37	22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582																																							uc010gqp.2		NA																	1	Substitution - Missense(1)		NS(1)	skin(1)	1						c.(211-213)TGG>TGC		ANKRD26-like family C, member 3							110.0	126.0	120.0					22																	16287673		2105	3940	6045	SO:0001583	missense	23784							g.chr22:16287673C>G	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.213G>C	22.37:g.16287673C>G	ENSP00000340610:p.Trp71Cys					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.W71C	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	265	-			71					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.213G>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.595853	0.00008	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.03608	0.0103	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	7	0.02654	T	1	.	.	.	.	.	71	Q6S545	POTEH_HUMAN	C	71	ENSP00000340610:W71C	ENSP00000340610:W71C	W	-	3	0	POTEH	14667673	0.006000	0.16342	0.007000	0.13788	0.007000	0.05969	-0.619000	0.05572	-1.825000	0.01207	-1.799000	0.00621	TGG		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		5	560	0	0	0	0.000602214	0	5	560				
LZTR1	8216	broad.mit.edu	37	22	21340175	21340175	+	Silent	SNP	C	C	T			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr22:21340175C>T	ENST00000215739.8	+	3	668	c.309C>T	c.(307-309)tgC>tgT	p.C103C	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	103					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGAAAGACTGCTCCTGGTGCA	0.592																																							uc002zto.2		NA																	0				ovary(2)|lung(2)	4						c.(307-309)TGC>TGT		leucine-zipper-like transcription regulator 1							93.0	72.0	79.0					22																	21340175		2203	4300	6503	SO:0001819	synonymous_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21340175C>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.309C>T	22.37:g.21340175C>T						LZTR1_uc002ztn.2_Silent_p.C62C|LZTR1_uc011ahy.1_Intron|LZTR1_uc010gsr.1_5'Flank	p.C103C	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	412	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	103			Kelch 1.		Q14776|Q20WK0	Silent	SNP	ENST00000215739.8	37	c.309C>T	CCDS33606.1																																																																																				0.592	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		8	45	0	0	0	0.000442599	0	8	45				
PKDREJ	10343	broad.mit.edu	37	22	46658152	46658152	+	Silent	SNP	C	C	G			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr22:46658152C>G	ENST00000253255.5	-	1	1067	c.1068G>C	c.(1066-1068)ctG>ctC	p.L356L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	356	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGGACCCGTCCAGAATCAGCT	0.557																																							uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(1066-1068)CTG>CTC		receptor for egg jelly-like protein precursor							114.0	114.0	114.0					22																	46658152		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658152C>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1068G>C	22.37:g.46658152C>G							p.L356L	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1068	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	356			Extracellular (Potential).|REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1068G>C	CCDS14073.1																																																																																				0.557	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		17	104	0	0	0	0.000958276	0	17	104				
SETD5	55209	broad.mit.edu	37	3	9477424	9477424	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr3:9477424G>C	ENST00000406341.1	+	6	591	c.401G>C	c.(400-402)aGt>aCt	p.S134T	SETD5_ENST00000302463.6_Missense_Mutation_p.S23T|SETD5_ENST00000402466.1_Missense_Mutation_p.S23T|SETD5_ENST00000407969.1_Missense_Mutation_p.S153T|SETD5_ENST00000402198.1_Missense_Mutation_p.S134T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	134										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGGATAGCAGTGCAACAGAA	0.423																																							uc003brt.2		NA																	0				ovary(2)	2						c.(400-402)AGT>ACT		SET domain containing 5							54.0	52.0	53.0					3																	9477424		1884	4139	6023	SO:0001583	missense	55209							g.chr3:9477424G>C	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.401G>C	3.37:g.9477424G>C	ENSP00000383939:p.Ser134Thr					SETD5_uc003brs.1_Missense_Mutation_p.S115T|SETD5_uc003bru.2_Missense_Mutation_p.S23T|SETD5_uc003brv.2_Missense_Mutation_p.S23T	p.S134T	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	7	836	+	Medulloblastoma(99;0.227)		134					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.401G>C	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275202	0.80580	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	T;D;D;D;D;T;D	0.97303	0.7;-3.33;-4.33;-3.33;-3.01;0.03;-4.33	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	L	0.58428	1.81	0.53688	D	0.999979	D;D;D	0.76494	0.999;0.982;0.999	D;D;D	0.83275	0.996;0.952;0.993	D	0.99097	1.0842	10	0.87932	D	0	-4.0978	19.2504	0.93923	0.0:0.0:1.0:0.0	.	23;134;153	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	T	134;134;23;134;153;23;23	ENSP00000413786:S134T;ENSP00000385852:S134T;ENSP00000384429:S23T;ENSP00000383939:S134T;ENSP00000384114:S153T;ENSP00000408837:S23T;ENSP00000302028:S23T	ENSP00000302028:S23T	S	+	2	0	SETD5	9452424	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.322000	0.96357	2.622000	0.88805	0.655000	0.94253	AGT		0.423	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		5	12	0	0	0	0.00116845	0	5	12				
PIGG	54872	broad.mit.edu	37	4	502694	502694	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr4:502694C>T	ENST00000453061.2	+	5	942	c.836C>T	c.(835-837)gCc>gTc	p.A279V	PIGG_ENST00000504346.1_Missense_Mutation_p.A190V|PIGG_ENST00000296306.7_Missense_Mutation_p.A190V|PIGG_ENST00000310340.5_Missense_Mutation_p.A279V|PIGG_ENST00000509768.1_Missense_Mutation_p.A190V|PIGG_ENST00000503111.1_Missense_Mutation_p.A190V|PIGG_ENST00000383028.4_Missense_Mutation_p.A146V|PIGG_ENST00000536264.1_Missense_Mutation_p.A157V	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	279					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						AGTCACGGGGCCTCCTCCACC	0.443																																							uc003gak.3		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(835-837)GCC>GTC		phosphatidylinositol glycan anchor biosynthesis,							122.0	112.0	116.0					4																	502694		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:502694C>T		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.836C>T	4.37:g.502694C>T	ENSP00000415203:p.Ala279Val					PIGG_uc003gaj.3_Missense_Mutation_p.A279V|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.A146V|PIGG_uc003gal.3_Missense_Mutation_p.A190V|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.A157V|PIGG_uc003gam.2_Missense_Mutation_p.A190V|PIGG_uc003gan.2_Missense_Mutation_p.A190V	p.A279V	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			5	972	+			279			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.836C>T	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847107	0.71603	.	.	ENSG00000174227	ENST00000296306;ENST00000536264;ENST00000310340;ENST00000453061;ENST00000504346;ENST00000503111;ENST00000383028;ENST00000509768	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.63	4.74	0.60224	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.047083	0.85682	D	0.000000	T	0.43722	0.1260	L	0.60455	1.87	0.47737	D	0.999501	P;D;P;P;P;P	0.56287	0.853;0.975;0.875;0.927;0.927;0.848	P;P;P;P;P;P	0.55667	0.646;0.781;0.744;0.645;0.744;0.69	T	0.36237	-0.9756	10	0.87932	D	0	.	12.1664	0.54133	0.0:0.7105:0.2895:0.0	.	157;146;190;190;279;279	B4DKC7;Q5H8A4-3;D6RFE8;Q5H8A4-5;Q5H8A4;Q5H8A4-2	.;.;.;.;PIGG_HUMAN;.	V	190;157;279;279;190;190;146;190	ENSP00000296306:A190V;ENSP00000439240:A157V;ENSP00000311750:A279V;ENSP00000415203:A279V;ENSP00000424800:A190V;ENSP00000426002:A190V;ENSP00000372494:A146V;ENSP00000421550:A190V	ENSP00000296306:A190V	A	+	2	0	PIGG	492694	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	6.350000	0.73017	2.675000	0.91044	0.655000	0.94253	GCC		0.443	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		12	73	0	0	0	0.00136819	0	12	73				
LETM1	3954	broad.mit.edu	37	4	1843351	1843351	+	Missense_Mutation	SNP	C	C	T	rs138076114	byFrequency	TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr4:1843351C>T	ENST00000302787.2	-	3	613	c.317G>A	c.(316-318)cGt>cAt	p.R106H		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	106					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GTGCCAGCCACGCACAGGAAG	0.597																																							uc003gdv.2		NA																	0				central_nervous_system(1)	1						c.(316-318)CGT>CAT		leucine zipper-EF-hand containing transmembrane		C	HIS/ARG	0,4406		0,0,2203	90.0	92.0	91.0		317	4.8	0.5	4	dbSNP_134	91	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LETM1	NM_012318.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	106/740	1843351	3,13003	2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843351C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.317G>A	4.37:g.1843351C>T	ENSP00000305653:p.Arg106His					LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Missense_Mutation_p.R106H	p.R106H	NM_012318	NP_036450	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	614	-			106					B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.317G>A	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849023	0.71603	0.0	3.49E-4	ENSG00000168924	ENST00000302787;ENST00000417150	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	M	0.71581	2.175	0.58432	D	0.999993	P;P	0.50943	0.94;0.453	B;B	0.40782	0.34;0.048	T	0.68439	-0.5408	9	0.56958	D	0.05	-25.3944	17.9358	0.89012	0.0:1.0:0.0:0.0	.	106;106	O95202-3;O95202	.;LETM1_HUMAN	H	106;66	.	ENSP00000305653:R106H	R	-	2	0	LETM1	1813149	1.000000	0.71417	0.459000	0.27081	0.151000	0.21798	5.113000	0.64640	2.477000	0.83638	0.563000	0.77884	CGT		0.597	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			10	94	0	0	0	0.000673444	0	10	94				
JADE2	23338	broad.mit.edu	37	5	133873705	133873705	+	Silent	SNP	A	A	C			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr5:133873705A>C	ENST00000402835.1	+	3	340	c.85A>C	c.(85-87)Aga>Cga	p.R29R	PHF15_ENST00000395003.1_Silent_p.R29R|PHF15_ENST00000282605.4_Silent_p.R29R|PHF15_ENST00000361895.2_Silent_p.R29R																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCCGCATCAAGATGCTCCAA	0.567																																							uc003kzo.1		NA																	0					0						c.(85-87)AGA>CGA		PHD finger protein 15							89.0	83.0	85.0					5																	133873705		2203	4300	6503	SO:0001819	synonymous_variant	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133873705A>C																												ENST00000402835.1:c.85A>C	5.37:g.133873705A>C						PHF15_uc011cxt.1_Silent_p.R29R|PHF15_uc003kzk.2_Silent_p.R45R|PHF15_uc003kzl.2_Silent_p.R29R|PHF15_uc003kzm.2_Silent_p.R29R|PHF15_uc003kzn.2_Silent_p.R29R	p.R29R	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	264	+			29						Silent	SNP	ENST00000402835.1	37	c.85A>C																																																																																					0.567	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			10	66	0	0	0	0.000673444	0	10	66				
SLIT3	6586	broad.mit.edu	37	5	168134994	168134994	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr5:168134994G>A	ENST00000519560.1	-	26	3250	c.2831C>T	c.(2830-2832)cCc>cTc	p.P944L	CTC-558O2.1_ENST00000521870.1_RNA|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.P944L|SLIT3_ENST00000332966.8_Missense_Mutation_p.P951L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	944	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTAGCTGTAGGGGCAGGCACA	0.612																																					Ovarian(29;311 847 10864 17279 24903)	Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.(2830-2832)CCC>CTC		slit homolog 3 precursor							92.0	72.0	79.0					5																	168134994		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168134994G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2831C>T	5.37:g.168134994G>A	ENSP00000430333:p.Pro944Leu					SLIT3_uc010jjg.2_Missense_Mutation_p.P951L	p.P944L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	3251	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	944			EGF-like 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2831C>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177472	0.78564	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.89746	-2.56;-2.56;-2.56	4.94	4.94	0.65067	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.050492	0.85682	D	0.000000	D	0.89164	0.6637	L	0.60845	1.875	0.80722	D	1	B	0.31241	0.315	B	0.37047	0.24	D	0.89256	0.3594	10	0.72032	D	0.01	.	18.194	0.89815	0.0:0.0:1.0:0.0	.	944	O75094	SLIT3_HUMAN	L	944;951;944	ENSP00000430333:P944L;ENSP00000332164:P951L;ENSP00000384890:P944L	ENSP00000332164:P951L	P	-	2	0	SLIT3	168067572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.296000	0.77279	0.585000	0.79938	CCC		0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		7	45	0	0	0	0.000157383	0	7	45				
TBC1D9B	23061	broad.mit.edu	37	5	179321595	179321595	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr5:179321595T>C	ENST00000356834.3	-	4	405	c.368A>G	c.(367-369)aAc>aGc	p.N123S	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.N123S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	123						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGTTCTTGTTCTCTTCTGC	0.602																																							uc003mlh.2		NA																	0				breast(1)|skin(1)	2						c.(367-369)AAC>AGC		TBC1 domain family, member 9B (with GRAM domain)							76.0	73.0	74.0					5																	179321595		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179321595T>C	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.368A>G	5.37:g.179321595T>C	ENSP00000349291:p.Asn123Ser					TBC1D9B_uc003mli.2_Missense_Mutation_p.N123S|TBC1D9B_uc003mlj.2_Missense_Mutation_p.N123S	p.N123S	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	405	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	123					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.368A>G	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221657	0.39300	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.09630	2.96;3.06	4.88	4.88	0.63580	.	0.053024	0.64402	D	0.000001	T	0.13030	0.0316	L	0.45698	1.435	0.80722	D	1	P;P;B	0.35456	0.502;0.494;0.196	B;B;B	0.39617	0.222;0.305;0.161	T	0.12167	-1.0558	10	0.19590	T	0.45	-46.7282	14.6493	0.68784	0.0:0.0:0.0:1.0	.	123;123;123	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	S	123	ENSP00000349291:N123S;ENSP00000347375:N123S	ENSP00000347375:N123S	N	-	2	0	TBC1D9B	179254201	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.713000	0.47194	2.047000	0.60756	0.482000	0.46254	AAC		0.602	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		4	64	0	0	0	0.000602214	0	4	64				
MOG	4340	broad.mit.edu	37	6	29640722	29640722	+	IGR	SNP	C	C	A			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr6:29640722C>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.C389F|ZFP57_ENST00000376881.3_Missense_Mutation_p.C369F|ZFP57_ENST00000376883.1_Missense_Mutation_p.C369F	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGTCAAAGAACAATGGGGGCA	0.517																																							uc011dlw.1		NA																	0				ovary(3)|skin(2)	5						c.(1165-1167)TGT>TTT		zinc finger protein 57 homolog							324.0	350.0	341.0					6																	29640722		1260	2556	3816	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29640722C>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640722C>A						ZFP57_uc003nnl.3_Missense_Mutation_p.C369F	p.C389F	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	1317	-			305			C2H2-type 5.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.1166G>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554403	0.27739	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	D;D;D	0.99176	-5.52;-5.52;-5.52	3.95	2.14	0.27477	.	0.000000	0.45361	D	0.000376	D	0.99405	0.9790	H	0.98446	4.235	0.41254	D	0.986734	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.982	D	0.98994	1.0809	10	0.87932	D	0	-10.2378	7.6439	0.28309	0.0:0.7366:0.1665:0.0969	.	389;369	Q9NU63-3;Q9NU63-2	.;.	F	389;369;369	ENSP00000418259:C389F;ENSP00000366078:C369F;ENSP00000366080:C369F	ENSP00000366078:C369F	C	-	2	0	ZFP57	29748701	0.992000	0.36948	0.006000	0.13384	0.013000	0.08279	3.877000	0.56123	0.621000	0.30232	0.563000	0.77884	TGT		0.517	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		79	278	1	0	1.7488e-33	0.000781405	9.98404e-33	79	278				
GPR6	2830	broad.mit.edu	37	6	110300677	110300677	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr6:110300677C>T	ENST00000275169.3	+	1	380	c.362C>T	c.(361-363)gCg>gTg	p.A121V	GPR6_ENST00000414000.2_Missense_Mutation_p.A136V	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	121					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GACCTGTTGGCGGGCTGTGGC	0.652																																							uc011eaw.1		NA																	0					0						c.(361-363)GCG>GTG		G protein-coupled receptor 6							112.0	100.0	104.0					6																	110300677		2203	4300	6503	SO:0001583	missense	2830					integral to plasma membrane		g.chr6:110300677C>T		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.362C>T	6.37:g.110300677C>T	ENSP00000275169:p.Ala121Val					GPR6_uc011eav.1_Missense_Mutation_p.A136V|GPR6_uc003ptu.2_Missense_Mutation_p.A121V	p.A121V	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	542	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	121			Helical; Name=2; (Potential).		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.362C>T	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697295	0.88830	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.68624	-0.34;-0.34	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	L	0.31926	0.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.61187	-0.7113	10	0.20519	T	0.43	.	17.7943	0.88565	0.0:1.0:0.0:0.0	.	136;121	B4DHS9;P46095	.;GPR6_HUMAN	V	121;136;121	ENSP00000406986:A136V;ENSP00000275169:A121V	ENSP00000275169:A121V	A	+	2	0	GPR6	110407370	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.647000	0.83462	2.434000	0.82447	0.462000	0.41574	GCG		0.652	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			30	116	0	0	0	0.00178596	0	30	116				
SEMA3E	9723	broad.mit.edu	37	7	83119449	83119449	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr7:83119449A>T	ENST00000307792.3	-	2	724	c.257T>A	c.(256-258)aTc>aAc	p.I86N	SEMA3E_ENST00000427262.1_Missense_Mutation_p.I26N	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	86	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCCGTCACTGATTCTCTCCAA	0.388																																							uc003uhy.1		NA																	0				ovary(3)	3						c.(256-258)ATC>AAC		semaphorin 3E precursor							82.0	76.0	78.0					7																	83119449		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83119449A>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.257T>A	7.37:g.83119449A>T	ENSP00000303212:p.Ile86Asn						p.I86N	NM_012431	NP_036563	O15041	SEM3E_HUMAN			2	723	-		Medulloblastoma(109;0.109)	86			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.257T>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726589	0.69074	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.12984	2.63;2.63;2.63	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.272246	0.37053	N	0.002268	T	0.30103	0.0754	M	0.83223	2.63	0.53688	D	0.999975	B	0.28900	0.227	B	0.39094	0.29	T	0.06716	-1.0811	10	0.87932	D	0	.	16.3574	0.83241	1.0:0.0:0.0:0.0	.	86	O15041	SEM3E_HUMAN	N	86;26;86;26	ENSP00000303212:I86N;ENSP00000405052:I26N;ENSP00000412867:I26N	ENSP00000303212:I86N	I	-	2	0	SEMA3E	82957385	1.000000	0.71417	0.840000	0.33206	0.997000	0.91878	7.741000	0.84997	2.270000	0.75569	0.477000	0.44152	ATC		0.388	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		3	19	0	0	0	0.00024832	0	3	19				
ZNF212	7988	broad.mit.edu	37	7	148947288	148947288	+	Silent	SNP	C	C	G			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr7:148947288C>G	ENST00000335870.2	+	2	191	c.63C>G	c.(61-63)tcC>tcG	p.S21S		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TAACTTCTTCCACACTTCCTT	0.458																																							uc003wfp.2		NA																	0				ovary(1)	1						c.(61-63)TCC>TCG		zinc finger protein 212							71.0	74.0	73.0					7																	148947288		2203	4300	6503	SO:0001819	synonymous_variant	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148947288C>G	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.63C>G	7.37:g.148947288C>G							p.S21S	NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		2	159	+	Melanoma(164;0.15)		21					B2RCF4|Q13396|Q8N664	Silent	SNP	ENST00000335870.2	37	c.63C>G	CCDS5896.1																																																																																				0.458	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		8	75	0	0	0	0.000157383	0	8	75				
ASB10	136371	broad.mit.edu	37	7	150878359	150878359	+	Silent	SNP	G	G	A			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr7:150878359G>A	ENST00000420175.2	-	3	795	c.771C>T	c.(769-771)gaC>gaT	p.D257D	ASB10_ENST00000275838.1_Silent_p.D257D|ASB10_ENST00000434669.1_Silent_p.D302D|ASB10_ENST00000422024.1_Silent_p.D302D|ASB10_ENST00000377867.3_Silent_p.D242D			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	257					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCAGCGGACGTCACAGGCAG	0.652																																							uc003wjm.1		NA																	0					0						c.(904-906)GAC>GAT		ankyrin repeat and SOCS box-containing 10							34.0	35.0	34.0					7																	150878359		2203	4297	6500	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150878359G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.771C>T	7.37:g.150878359G>A						ASB10_uc003wjl.1_Silent_p.D302D|ASB10_uc003wjn.1_Silent_p.D242D	p.D302D	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1032	-			257			ANK 5.		A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.906C>T	CCDS47750.2																																																																																				0.652	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		6	35	0	0	0	8.12818e-05	0	6	35				
KCNB2	9312	broad.mit.edu	37	8	73848601	73848601	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr8:73848601G>C	ENST00000523207.1	+	3	1599	c.1011G>C	c.(1009-1011)ttG>ttC	p.L337F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	337					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AATTGGGCTTGTTGATATTGT	0.473																																							uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1009-1011)TTG>TTC		potassium voltage-gated channel, Shab-related							109.0	110.0	110.0					8																	73848601		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848601G>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1011G>C	8.37:g.73848601G>C	ENSP00000430846:p.Leu337Phe						p.L337F	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1599	+	Breast(64;0.137)		337			Helical; Name=Segment S5; (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1011G>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643716	0.67244	.	.	ENSG00000182674	ENST00000523207	D	0.99005	-5.32	5.74	2.93	0.34026	Ion transport (1);	0.000000	0.36555	N	0.002540	D	0.98346	0.9451	L	0.41027	1.25	0.51012	D	0.999904	D	0.89917	1.0	D	0.87578	0.998	D	0.96961	0.9701	10	0.36615	T	0.2	.	8.7711	0.34733	0.3625:0.0:0.6375:0.0	.	337	Q92953	KCNB2_HUMAN	F	337	ENSP00000430846:L337F	ENSP00000430846:L337F	L	+	3	2	KCNB2	74011155	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	0.990000	0.29642	0.750000	0.32877	0.655000	0.94253	TTG		0.473	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		7	136	0	0	0	8.12818e-05	0	7	136				
A1CF	29974	broad.mit.edu	37	10	52573648	52573648	+	Frame_Shift_Del	DEL	A	A	-	rs140399088		TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr10:52573648delA	ENST00000373993.1	-	8	1360	c.1316delT	c.(1315-1317)ttafs	p.L439fs	A1CF_ENST00000373995.3_Frame_Shift_Del_p.L439fs|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395489.2_Frame_Shift_Del_p.L432fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.L439fs|A1CF_ENST00000374001.2_Frame_Shift_Del_p.L431fs|A1CF_ENST00000395495.1_Frame_Shift_Del_p.L384fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.L431fs|A1CF_ENST00000493415.1_5'UTR			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	439					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGGGGTTTTAATGTGACAGG	0.418																																							uc001jjj.2		NA																	0				central_nervous_system(1)	1						c.(1315-1317)TTAfs		apobec-1 complementation factor isoform 2							147.0	149.0	148.0					10																	52573648		2203	4300	6503	SO:0001589	frameshift_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52573648delA	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1316delT	10.37:g.52573648delA	ENSP00000363105:p.Leu439fs					A1CF_uc010qhn.1_Frame_Shift_Del_p.L439fs|A1CF_uc001jji.2_Frame_Shift_Del_p.L431fs|A1CF_uc001jjh.2_Frame_Shift_Del_p.L439fs|A1CF_uc010qho.1_Frame_Shift_Del_p.L447fs|A1CF_uc009xov.2_Frame_Shift_Del_p.L431fs	p.L439fs	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			10	1504	-			439					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Frame_Shift_Del	DEL	ENST00000373993.1	37	c.1316delT	CCDS7242.1																																																																																				0.418	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		19	106	NA	NA	NA	NA	NA	19	106	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																							uc001mle.2		NA																	0					0						c.e9+1		spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT							p.E364_splice	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	9	1630	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	Splice_Site	DEL	ENST00000310358.7	37	c.1092_splice																																																																																					0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		7	64	NA	NA	NA	NA	NA	7	64	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr20:56099187delT	ENST00000608263.1	-	1	736	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502																																							uc010gix.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(73-75)AAAfs		CCCTC-binding factor-like protein							231.0	258.0	249.0					20																	56099187		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099187delT		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.75delA	20.37:g.56099187delT	ENSP00000476783:p.Lys25fs					CTCFL_uc010giw.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	737	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		25					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.75delA	CCDS13459.1																																																																																				0.502	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		9	505	NA	NA	NA	NA	NA	9	505	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150947463	150947463	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr5:150947463delA	ENST00000261800.5	-	1	1042	c.1030delT	c.(1030-1032)tatfs	p.Y344fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	344					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTGGGAATAAAAATAAGGG	0.498																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1030-1032)TATfs		FAT tumor suppressor 2 precursor							92.0	103.0	99.0					5																	150947463		2203	4300	6503	SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947463delA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1030delT	5.37:g.150947463delA	ENSP00000261800:p.Tyr344fs					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Frame_Shift_Del_p.Y344fs	p.Y344fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1043	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	344			Extracellular (Potential).		O75091|Q9NSR7	Frame_Shift_Del	DEL	ENST00000261800.5	37	c.1030delT	CCDS4317.1																																																																																				0.498	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		19	189	NA	NA	NA	NA	NA	19	189	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457|rs368917144	byFrequency	TCGA-55-6978-01A-11D-1945-08	TCGA-55-6978-11A-01D-1945-08	GCA	GCA	-	-	GCA	GCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d44bbc31-efda-4b1d-804f-9dc9ba1684ee	bef20a84-615a-481d-a608-fe9071ab24e7	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_ENST00000523095.1_In_Frame_Del_p.339_340AA>A|ZNF395_ENST00000523202.1_In_Frame_Del_p.339_340AA>A	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606																																							uc003xgq.2		NA																	0					0						c.(1015-1020)GCTGCC>GCC		zinc finger protein 395				554,80,3604		203,0,148,2,76,1690						-6.6	0.0			63	1049,5,7094		390,0,269,0,5,3410	no	codingComplex	ZNF395	NM_018660.2		593,0,417,2,81,5100	A1A1,A1A2,A1R,A2A2,A2R,RR		12.9357,14.9599,13.6283				1603,85,10698				SO:0001651	inframe_deletion	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209226_28209228delGCA	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1017_1019delTGC	8.37:g.28209235_28209237delGCA	ENSP00000340494:p.Ala341del					ZNF395_uc003xgt.2_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgr.2_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgs.2_In_Frame_Del_p.339_340AA>A	p.339_340AA>A	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1105_1107	-		Ovarian(32;2.06e-05)	339_340					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	In_Frame_Del	DEL	ENST00000344423.5	37	c.1017_1019delTGC	CCDS6067.1																																																																																				0.606	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			7	167	NA	NA	NA	NA	NA	7	167	---	---	---	---
