#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF721	170960	broad.mit.edu	37	4	436033	436033	+	Silent	SNP	G	G	A	rs186091133	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:436033G>A	ENST00000338977.5	-	2	2235	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Silent_p.N741N|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	729					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTTATATTCGTTCAGGTTTG	0.388													A|||	5	0.000998403	0.003	0.0014	5008	,	,		20875	0.0		0.0	False		,,,				2504	0.0					ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2185-2187)aaC>aaT		zinc finger protein 721		A		16,3964		0,16,1974	35.0	36.0	36.0		2223	1.3	0.0	4		36	0,8348		0,0,4174	no	coding-synonymous	ZNF721	NM_133474.2		0,16,6148	AA,AG,GG		0.0,0.402,0.1298		741/924	436033	16,12312	1990	4174	6164	SO:0001819	synonymous_variant	170960							g.chr4:436033G>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2187C>T	4.37:g.436033G>A						ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Silent_p.N741N|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron	p.N729N							2	2235	-								Q69YG7	Silent	SNP	ENST00000338977.5	37	c.2187C>T																																																																																					0.388	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		9	21	0	0	0	1	0	9	21				
ZNF286A	57335	broad.mit.edu	37	17	15620349	15620349	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:15620349C>T	ENST00000464847.2	+	5	1864	c.1311C>T	c.(1309-1311)ccC>ccT	p.P437P	ZNF286A_ENST00000413242.2_Silent_p.P437P|ZNF286A_ENST00000593105.1_Silent_p.P427P|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Silent_p.P437P|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.P437P			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GAGAGAAACCCTATGAGTGTA	0.388																																						ENST00000464847.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1309-1311)ccC>ccT		zinc finger protein 286A							53.0	62.0	59.0					17																	15620349		2203	4300	6503	SO:0001819	synonymous_variant	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15620349C>T	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.1311C>T	17.37:g.15620349C>T						ZNF286A_ENST00000593105.1_Silent_p.P427P|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Silent_p.P437P|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Silent_p.P437P|ZNF286A_ENST00000413242.2_Silent_p.P437P	p.P437P			Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	5	1864	+			437					B4DKF9|Q96JF3	Silent	SNP	ENST00000464847.2	37	c.1311C>T	CCDS11172.1																																																																																				0.388	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		21	31	0	0	0	1	0	21	31				
BCRP7	100133163	broad.mit.edu	37	22	18844894	18844894	+	3'UTR	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr22:18844894C>A	ENST00000412938.1	+	0	3144																											GGAAATACAGCTTCAGCGTGC	0.577																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844894C>A																												ENST00000412938.1:c.*3141C>A	22.37:g.18844894C>A														0	3144	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.577	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			16	7	1	0	4.7546e-09	1	5.38331e-09	16	7				
RGAG1	57529	broad.mit.edu	37	X	109696372	109696372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:109696372G>T	ENST00000465301.2	+	3	2773	c.2527G>T	c.(2527-2529)Gga>Tga	p.G843*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.G843*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	843										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCCATCTCTGGAGCAATGTC	0.517																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2527-2529)Gga>Tga		retrotransposon gag domain containing 1							167.0	155.0	159.0					X																	109696372		2203	4300	6503	SO:0001587	stop_gained	57529							g.chrX:109696372G>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2527G>T	X.37:g.109696372G>T	ENSP00000419786:p.Gly843*					RGAG1_ENST00000540313.1_Nonsense_Mutation_p.G843*	p.G843*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2773	+			843					Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	c.2527G>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	37	6.157869	0.97334	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	.	.	.	4.02	2.24	0.28232	.	0.248845	0.21023	N	0.081467	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5199	7.5752	0.27931	0.2239:0.0:0.7761:0.0	.	.	.	.	X	843	.	.	G	+	1	0	RGAG1	109583028	0.015000	0.18098	0.003000	0.11579	0.570000	0.35934	1.102000	0.31050	0.472000	0.27344	0.513000	0.50165	GGA		0.517	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		98	53	1	0	3.57987e-33	1	4.71579e-33	98	53				
MTUS2	23281	broad.mit.edu	37	13	29600957	29600957	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:29600957G>A	ENST00000431530.3	+	1	2210	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	708	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAGCCAAGGGTCTTCAGTTC	0.493																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2152-2154)Gtc>Atc		microtubule associated tumor suppressor candidate 2							63.0	65.0	65.0					13																	29600957		1898	4108	6006	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600957G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2152G>A	13.37:g.29600957G>A	ENSP00000392057:p.Val718Ile						p.V718I	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	2210	+			708			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2152G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	13.76	2.332517	0.41297	.	.	ENSG00000132938	ENST00000431530	T	0.12569	2.67	6.17	4.21	0.49690	.	0.125602	0.36303	N	0.002676	T	0.10294	0.0252	L	0.46157	1.445	0.80722	D	1	P	0.36683	0.565	B	0.33690	0.168	T	0.03587	-1.1022	9	.	.	.	.	5.586	0.17275	0.1673:0.2849:0.5478:0.0	.	708	Q5JR59	MTUS2_HUMAN	I	718	ENSP00000392057:V718I	.	V	+	1	0	MTUS2	28498957	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	2.195000	0.42677	2.941000	0.99782	0.655000	0.94253	GTC		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		19	23	0	0	0	1	0	19	23				
NXPE2	120406	broad.mit.edu	37	11	114568901	114568901	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:114568901G>T	ENST00000389586.4	+	3	457	c.267G>T	c.(265-267)gaG>gaT	p.E89D	NXPE2_ENST00000375475.5_Missense_Mutation_p.E89D	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	89						integral component of membrane (GO:0016021)											ACATTATGGAGAAACTAGACC	0.458																																						ENST00000375475.5																			0											c.(265-267)gaG>gaT		neurexophilin and PC-esterase domain family, member 2							183.0	149.0	159.0					11																	114568901		692	1591	2283	SO:0001583	missense	120406							g.chr11:114568901G>T	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.267G>T	11.37:g.114568901G>T	ENSP00000374237:p.Glu89Asp					NXPE2_ENST00000389586.4_Missense_Mutation_p.E89D	p.E89D							3	365	+								Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	c.267G>T	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008543	0.35415	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.19394	2.67;2.15	4.54	2.39	0.29439	.	1.133870	0.06658	N	0.763967	T	0.33904	0.0879	M	0.74881	2.28	0.09310	N	1	P	0.44281	0.831	P	0.50537	0.643	T	0.17289	-1.0374	10	0.39692	T	0.17	.	4.8698	0.13627	0.2085:0.0:0.6075:0.184	.	89	Q96DL1	FA55B_HUMAN	D	89	ENSP00000374237:E89D;ENSP00000364624:E89D	ENSP00000364624:E89D	E	+	3	2	FAM55B	114074111	0.137000	0.22531	0.022000	0.16811	0.708000	0.40852	0.834000	0.27518	0.906000	0.36621	0.591000	0.81541	GAG		0.458	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		21	25	1	0	3.62473e-10	1	4.20838e-10	21	25				
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:94030836C>A	ENST00000265140.5	+	21	3415	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(2995-2997)aCc>aAc		ankyrin repeat domain 32							66.0	67.0	67.0					5																	94030836		2203	4299	6502	SO:0001583	missense	84250							g.chr5:94030836C>A	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2996C>A	5.37:g.94030836C>A	ENSP00000265140:p.Thr999Asn					ANKRD32_ENST00000493934.1_Intron	p.T999N	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	21	3415	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	999					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2996C>A	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356986	0.24598	.	.	ENSG00000133302	ENST00000265140	T	0.40476	1.03	5.46	4.54	0.55810	.	0.441905	0.22207	N	0.063146	T	0.27489	0.0675	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.07770	-1.0755	10	0.31617	T	0.26	.	10.5297	0.44969	0.1322:0.6385:0.2293:0.0	.	999	Q9BQI6	ANR32_HUMAN	N	999	ENSP00000265140:T999N	ENSP00000265140:T999N	T	+	2	0	ANKRD32	94056592	0.001000	0.12720	0.978000	0.43139	0.992000	0.81027	1.019000	0.30014	2.579000	0.87056	0.591000	0.81541	ACC		0.348	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		10	56	1	0	0.010729	1	0.0109692	10	56				
LRRC37B	114659	broad.mit.edu	37	17	30372816	30372816	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:30372816C>T	ENST00000341671.7	+	8	2226	c.2221C>T	c.(2221-2223)Ctg>Ttg	p.L741L	LRRC37B_ENST00000543378.2_Silent_p.L659L|SH3GL1P1_ENST00000579186.1_RNA|LRRC37B_ENST00000394713.3_Silent_p.L690L|LRRC37B_ENST00000327564.7_Silent_p.L768L|LRRC37B_ENST00000584368.1_Silent_p.L702L	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	741						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CACTGCATGTCTGACTAACAG	0.358																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2302-2304)Ctg>Ttg		leucine rich repeat containing 37B							169.0	109.0	130.0					17																	30372816		2203	4300	6503	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30372816C>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2221C>T	17.37:g.30372816C>T						LRRC37B_ENST00000584368.1_Silent_p.L702L|LRRC37B_ENST00000543378.2_Silent_p.L659L|LRRC37B_ENST00000341671.7_Silent_p.L741L|LRRC37B_ENST00000394713.3_Silent_p.L690L	p.L768L			Q96QE4	LR37B_HUMAN			8	2363	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	741					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.2302C>T	CCDS32609.1																																																																																				0.358	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		33	159	0	0	0	1	0	33	159				
VWA5A	4013	broad.mit.edu	37	11	124007741	124007741	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:124007741G>T	ENST00000456829.2	+	15	1896	c.1645G>T	c.(1645-1647)Gct>Tct	p.A549S	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.A549S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	549										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCACCGCCTTGCTGCCAAGTC	0.453																																						ENST00000456829.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1645-1647)Gct>Tct		von Willebrand factor A domain containing 5A							68.0	72.0	71.0					11																	124007741		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124007741G>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1645G>T	11.37:g.124007741G>T	ENSP00000407726:p.Ala549Ser					VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.A549S	p.A549S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			15	1896	+			549					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1645G>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555324	0.86231	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.05649	3.41;3.41	5.26	5.26	0.73747	.	0.108992	0.64402	D	0.000009	T	0.18257	0.0438	M	0.85299	2.745	0.80722	D	1	P	0.51933	0.949	P	0.51016	0.656	T	0.18023	-1.0350	10	0.13108	T	0.6	-13.2867	16.3487	0.83191	0.0:0.0:1.0:0.0	.	549	O00534	VMA5A_HUMAN	S	549	ENSP00000407726:A549S;ENSP00000376504:A549S	ENSP00000376504:A549S	A	+	1	0	VWA5A	123512951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.458000	0.83093	0.650000	0.86243	GCT		0.453	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		23	48	1	0	4.26978e-12	1	5.0866e-12	23	48				
POTEH	23784	broad.mit.edu	37	22	16267045	16267045	+	Silent	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr22:16267045T>C	ENST00000343518.6	-	9	1455	c.1404A>G	c.(1402-1404)gaA>gaG	p.E468E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	468										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAGTCAGGTTTTCTGGGAATC	0.403																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(1402-1404)gaA>gaG		POTE ankyrin domain family, member H							567.0	459.0	492.0					22																	16267045		692	1591	2283	SO:0001819	synonymous_variant	23784							g.chr22:16267045T>C	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.1404A>G	22.37:g.16267045T>C							p.E468E	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			9	1455	-			468					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.1404A>G	CCDS46658.1																																																																																				0.403	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		48	260	0	0	0	1	0	48	260				
OR2A2	442361	broad.mit.edu	37	7	143806912	143806912	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:143806912G>T	ENST00000408979.2	+	1	306	c.237G>T	c.(235-237)aaG>aaT	p.K79N		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGTTCCCAAGATGTTGGCAA	0.433																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(235-237)aaG>aaT		olfactory receptor, family 2, subfamily A, member 2							233.0	220.0	224.0					7																	143806912		2057	4226	6283	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806912G>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.237G>T	7.37:g.143806912G>T	ENSP00000386209:p.Lys79Asn						p.K79N	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	306	+	Melanoma(164;0.0783)		79					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.237G>T	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	5.529	0.282448	0.10458	.	.	ENSG00000221989	ENST00000408979	T	0.00469	7.21	3.61	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.691110	0.11213	U	0.587552	T	0.00384	0.0012	L	0.45051	1.395	0.09310	N	0.999998	B	0.14438	0.01	B	0.17722	0.019	T	0.45483	-0.9258	10	0.66056	D	0.02	-6.126	4.1576	0.10268	0.1168:0.0:0.4736:0.4096	.	79	Q6IF42	OR2A2_HUMAN	N	79	ENSP00000386209:K79N	ENSP00000386209:K79N	K	+	3	2	OR2A2	143437845	0.000000	0.05858	0.985000	0.45067	0.322000	0.28314	0.096000	0.15147	0.293000	0.22520	0.609000	0.83330	AAG		0.433	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			35	221	1	0	6.97489e-18	1	8.6869e-18	35	221				
GCN1L1	10985	broad.mit.edu	37	12	120584869	120584869	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:120584869A>C	ENST00000300648.6	-	38	4946	c.4934T>G	c.(4933-4935)cTg>cGg	p.L1645R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1645					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGTCTGTCAGGGAGTACAT	0.557																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4933-4935)cTg>cGg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							57.0	59.0	59.0					12																	120584869		2116	4245	6361	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120584869A>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4934T>G	12.37:g.120584869A>C	ENSP00000300648:p.Leu1645Arg						p.L1645R	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			38	4946	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1645					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4934T>G	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803986	0.90623	.	.	ENSG00000089154	ENST00000300648	T	0.65916	-0.18	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89253	0.3592	10	0.87932	D	0	.	16.3453	0.83126	1.0:0.0:0.0:0.0	.	1645	Q92616	GCN1L_HUMAN	R	1645	ENSP00000300648:L1645R	ENSP00000300648:L1645R	L	-	2	0	GCN1L1	119069252	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	CTG		0.557	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			8	13	0	0	0	1	0	8	13				
CCR7	1236	broad.mit.edu	37	17	38711204	38711204	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:38711204G>A	ENST00000246657.2	-	3	989	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CCR7_ENST00000579344.1_Silent_p.D303D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	309					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGTAGGTGACGTCGTAGGCGA	0.567																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(925-927)gaC>gaT		chemokine (C-C motif) receptor 7							225.0	177.0	193.0					17																	38711204		2203	4300	6503	SO:0001819	synonymous_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711204G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.927C>T	17.37:g.38711204G>A						CCR7_ENST00000579344.1_Silent_p.D303D	p.D309D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			3	989	-		Breast(137;0.000496)	309						Silent	SNP	ENST00000246657.2	37	c.927C>T	CCDS11369.1																																																																																				0.567	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			12	45	0	0	0	1	0	12	45				
ZNF99	7652	broad.mit.edu	37	19	22941472	22941472	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:22941472A>G	ENST00000596209.1	-	4	1329	c.1239T>C	c.(1237-1239)acT>acC	p.T413T	ZNF99_ENST00000397104.3_Silent_p.T322T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCTTATGTACAGTAAGTTTTG	0.363																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(964-966)acT>acC		zinc finger protein 99							44.0	46.0	46.0					19																	22941472		1993	4203	6196	SO:0001819	synonymous_variant	7652							g.chr19:22941472A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1239T>C	19.37:g.22941472A>G						ZNF99_ENST00000596209.1_Silent_p.T413T	p.T322T							5	965	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.966T>C	CCDS59369.1																																																																																				0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		26	43	0	0	0	1	0	26	43				
SPEN	23013	broad.mit.edu	37	1	16262471	16262471	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:16262471A>C	ENST00000375759.3	+	11	9940	c.9736A>C	c.(9736-9738)Acc>Ccc	p.T3246P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3246	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ccccacccccacccctgcccc	0.662																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(9736-9738)Acc>Ccc		spen family transcriptional repressor																																				SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262471A>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9736A>C	1.37:g.16262471A>C	ENSP00000364912:p.Thr3246Pro						p.T3246P	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	9940	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3246			Pro-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9736A>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.376361	0.00207	.	.	ENSG00000065526	ENST00000375759	T	0.09255	3.0	1.72	-0.922	0.10468	.	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42172	-0.9467	9	0.30078	T	0.28	.	5.1828	0.15169	0.5273:0.0:0.4727:0.0	.	3246	Q96T58	MINT_HUMAN	P	3246	ENSP00000364912:T3246P	ENSP00000364912:T3246P	T	+	1	0	SPEN	16135058	0.018000	0.18449	0.000000	0.03702	0.001000	0.01503	0.804000	0.27098	-0.457000	0.07033	-1.751000	0.00678	ACC		0.662	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		3	6	0	0	0	1	0	3	6				
GPR179	440435	broad.mit.edu	37	17	36485312	36485312	+	Silent	SNP	C	C	A	rs564896386	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:36485312C>A	ENST00000342292.4	-	11	4160	c.4140G>T	c.(4138-4140)ccG>ccT	p.P1380P	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1380					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCAGGGACACGGCTCTGCCT	0.597																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4138-4140)ccG>ccT		G protein-coupled receptor 179							92.0	99.0	97.0					17																	36485312		2040	4184	6224	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485312C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4140G>T	17.37:g.36485312C>A							p.P1380P	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	4160	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1380						Silent	SNP	ENST00000342292.4	37	c.4140G>T	CCDS42308.1																																																																																				0.597	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			28	90	1	0	2.41591e-17	1	2.9818e-17	28	90				
GALNT13	114805	broad.mit.edu	37	2	155252510	155252510	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:155252510C>T	ENST00000392825.3	+	10	1731	c.1164C>T	c.(1162-1164)gtC>gtT	p.V388V	GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.V388V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	388					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAGGTGTTGTCAAAGTGGATT	0.353																																						ENST00000392825.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(1162-1164)gtC>gtT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							73.0	67.0	69.0					2																	155252510		2203	4300	6503	SO:0001819	synonymous_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155252510C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1164C>T	2.37:g.155252510C>T						GALNT13_ENST00000487047.1_3'UTR|GALNT13_ENST00000409237.1_Silent_p.V388V	p.V388V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN			10	1731	+			388					Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.1164C>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974349	0.18736	.	.	ENSG00000144278	ENST00000450838	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5694	0.27898	0.0:0.7429:0.1682:0.0889	.	.	.	.	X	7	.	.	Q	+	1	0	GALNT13	154960756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.433000	0.34947	2.492000	0.84095	0.650000	0.86243	CAA		0.353	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		9	29	0	0	0	1	0	9	29				
USP6	9098	broad.mit.edu	37	17	5042664	5042664	+	Missense_Mutation	SNP	G	G	A	rs374751662		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:5042664G>A	ENST00000574788.1	+	22	3423	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	USP6_ENST00000304328.5_Missense_Mutation_p.R81Q|USP6_ENST00000250066.6_Missense_Mutation_p.R398Q|USP6_ENST00000332776.4_Missense_Mutation_p.R398Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	398					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGTTCCAGCGGCCCATTTGC	0.657			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(1192-1194)cGg>cAg		ubiquitin specific peptidase 6 (Tre-2 oncogene)		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	34.0	38.0	37.0		1193	0.1	0.1	17		37	0,8600		0,0,4300	no	missense	USP6	NM_004505.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	398/1407	5042664	1,13005	2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5042664G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1193G>A	17.37:g.5042664G>A	ENSP00000460380:p.Arg398Gln					USP6_ENST00000304328.5_Missense_Mutation_p.R81Q|USP6_ENST00000250066.6_Missense_Mutation_p.R398Q|USP6_ENST00000332776.4_Missense_Mutation_p.R398Q	p.R398Q			P35125	UBP6_HUMAN			22	3423	+			398					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.1193G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488380	0.26686	2.27E-4	0.0	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.24723	2.48;2.96;1.84	0.0465	0.0465	0.14256	.	0.847860	0.10577	N	0.658403	T	0.13243	0.0321	N	0.08118	0	0.09310	N	1	P;P	0.47302	0.893;0.829	B;B	0.43360	0.417;0.238	T	0.15407	-1.0438	9	0.59425	D	0.04	.	.	.	.	.	81;398	P35125-2;P35125	.;UBP6_HUMAN	Q	398;398;81	ENSP00000328010:R398Q;ENSP00000250066:R398Q;ENSP00000305473:R81Q	ENSP00000250066:R398Q	R	+	2	0	USP6	4983388	0.097000	0.21791	0.134000	0.22075	0.135000	0.20990	0.055000	0.14229	0.132000	0.18615	0.134000	0.15878	CGG		0.657	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		6	44	0	0	0	1	0	6	44				
RBPMS	11030	broad.mit.edu	37	8	30402239	30402239	+	Intron	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:30402239C>A	ENST00000320203.4	+	6	1110				RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000520161.1_Intron|RBPMS_ENST00000520191.1_Missense_Mutation_p.A105D|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000517860.1_Missense_Mutation_p.A209D|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000397323.4_Intron	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		ACCTATCCAGCTAACAGATCC	0.478																																						ENST00000520191.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(313-315)gCt>gAt		RNA binding protein with multiple splicing																																				SO:0001627	intron_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30402239C>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.528+98C>A	8.37:g.30402239C>A						RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000517860.1_Missense_Mutation_p.A209D|RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000520161.1_Intron	p.A105D			Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	6	744	+			0					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Missense_Mutation	SNP	ENST00000320203.4	37	c.314C>A	CCDS6077.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569930	0.86542	.	.	ENSG00000157110	ENST00000517860;ENST00000520191	T	0.36520	1.25	5.65	5.65	0.86999	.	.	.	.	.	T	0.44435	0.1293	.	.	.	0.80722	D	1	D	0.58620	0.983	P	0.50314	0.637	T	0.22208	-1.0223	7	.	.	.	.	15.232	0.73398	0.0:1.0:0.0:0.0	.	209	B4E3T4	.	D	209;105	ENSP00000428675:A209D	.	A	+	2	0	RBPMS	30521781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.985000	0.56930	2.668000	0.90789	0.655000	0.94253	GCT		0.478	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			15	22	1	0	1.05317e-09	1	1.21247e-09	15	22				
SPG20	23111	broad.mit.edu	37	13	36909740	36909740	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:36909740C>A	ENST00000451493.1	-	2	445	c.228G>T	c.(226-228)caG>caT	p.Q76H	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.Q76H|SPG20_ENST00000494062.2_Missense_Mutation_p.Q76H|SPG20_ENST00000438666.2_Missense_Mutation_p.Q76H	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	76	MIT.				abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TCTGTTGCATCTGTCTAGCAG	0.453																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(226-228)caG>caT		spastic paraplegia 20 (Troyer syndrome)							99.0	93.0	95.0					13																	36909740		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909740C>A	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.228G>T	13.37:g.36909740C>A	ENSP00000414147:p.Gln76His					SPG20_ENST00000438666.2_Missense_Mutation_p.Q76H|SPG20_ENST00000494062.2_Missense_Mutation_p.Q76H|SPG20_ENST00000355182.4_Missense_Mutation_p.Q76H|SPG20_ENST00000495510.1_5'UTR	p.Q76H	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	2	445	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	76			MIT.		O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.228G>T	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862206	0.51482	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89875	-2.58;-2.58;-2.58	5.96	4.24	0.50183	MIT (2);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.68952	2.095	0.48087	D	0.99958	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.87578	0.998;0.998;0.998	D	0.90925	0.4786	10	0.56958	D	0.05	-17.7675	9.5832	0.39501	0.0:0.6761:0.0:0.3239	.	76;76;76	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	H	76	ENSP00000406061:Q76H;ENSP00000347314:Q76H;ENSP00000414147:Q76H	ENSP00000347314:Q76H	Q	-	3	2	SPG20	35807740	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	1.594000	0.36697	0.442000	0.26555	-0.813000	0.03139	CAG		0.453	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			45	44	1	0	3.77016e-25	1	4.91916e-25	45	44				
PARP12	64761	broad.mit.edu	37	7	139737556	139737556	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:139737556T>C	ENST00000263549.3	-	7	2156	c.1283A>G	c.(1282-1284)aAg>aGg	p.K428R	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	428	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCCTGGAACTTCAAGGTGGC	0.602																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1282-1284)aAg>aGg		poly (ADP-ribose) polymerase family, member 12							104.0	79.0	88.0					7																	139737556		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139737556T>C	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1283A>G	7.37:g.139737556T>C	ENSP00000263549:p.Lys428Arg					PARP12_ENST00000470515.1_5'UTR	p.K428R	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			7	2156	-	Melanoma(164;0.0142)		428			WWE 2.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.1283A>G	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.406675	0.42715	.	.	ENSG00000059378	ENST00000263549	T	0.29142	1.58	5.7	0.367	0.16140	WWE domain (1);	0.506724	0.23472	N	0.047817	T	0.14485	0.0350	N	0.21583	0.68	0.25374	N	0.98867	B	0.09022	0.002	B	0.09377	0.004	T	0.21211	-1.0252	10	0.16420	T	0.52	.	4.4825	0.11774	0.2441:0.139:0.0:0.617	.	428	Q9H0J9	PAR12_HUMAN	R	428	ENSP00000263549:K428R	ENSP00000263549:K428R	K	-	2	0	PARP12	139384025	0.802000	0.28943	0.977000	0.42913	0.950000	0.60333	0.480000	0.22244	0.105000	0.17753	0.459000	0.35465	AAG		0.602	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		16	37	0	0	0	1	0	16	37				
FAM83B	222584	broad.mit.edu	37	6	54804723	54804723	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr6:54804723C>G	ENST00000306858.7	+	5	1070	c.954C>G	c.(952-954)agC>agG	p.S318R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	318										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTGTTTCCAGCCAGAGAAACC	0.388																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(952-954)agC>agG		family with sequence similarity 83, member B							88.0	88.0	88.0					6																	54804723		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54804723C>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.954C>G	6.37:g.54804723C>G	ENSP00000304078:p.Ser318Arg						p.S318R	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1070	+	Lung NSC(77;0.0178)|Renal(3;0.122)		318					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.954C>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649361	0.47362	.	.	ENSG00000168143	ENST00000306858	T	0.12361	2.69	5.42	4.55	0.56014	.	0.123126	0.64402	D	0.000018	T	0.22936	0.0554	M	0.73598	2.24	0.47949	D	0.999556	D	0.71674	0.998	D	0.63488	0.915	T	0.02031	-1.1226	10	0.59425	D	0.04	-21.9287	11.8114	0.52185	0.0:0.8576:0.0:0.1424	.	318	Q5T0W9	FA83B_HUMAN	R	318	ENSP00000304078:S318R	ENSP00000304078:S318R	S	+	3	2	FAM83B	54912682	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.518000	0.35877	1.424000	0.47217	0.585000	0.79938	AGC		0.388	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		25	53	0	0	0	1	0	25	53				
BRINP3	339479	broad.mit.edu	37	1	190067946	190067946	+	Silent	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:190067946C>T	ENST00000367462.3	-	8	1734	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	BRINP3_ENST00000534846.1_Silent_p.L399L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	501					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CCGTTTTCTGCAGCAGATATT	0.502																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1501-1503)ctG>ctA									158.0	155.0	156.0					1																	190067946		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067946C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1503G>A	1.37:g.190067946C>T						FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.L399L	p.L501L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1734	-	Prostate(682;0.198)		501					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.1503G>A	CCDS1373.1																																																																																				0.502	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		30	117	0	0	0	1	0	30	117				
MESDC2	23184	broad.mit.edu	37	15	81282115	81282115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:81282115C>T	ENST00000261758.4	-	1	104	c.18G>A	c.(16-18)tgG>tgA	p.W6*	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	6	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CCTTGCGCGCCCACCTGGAAG	0.711																																						ENST00000261758.4																			0				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						c.(16-18)tgG>tgA		mesoderm development candidate 2							13.0	12.0	12.0					15																	81282115		2189	4264	6453	SO:0001587	stop_gained	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81282115C>T	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.18G>A	15.37:g.81282115C>T	ENSP00000261758:p.Trp6*						p.W6*	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN			1	104	-			6			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	Nonsense_Mutation	SNP	ENST00000261758.4	37	c.18G>A	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320617	0.60634	.	.	ENSG00000117899	ENST00000422879;ENST00000261758	.	.	.	4.48	3.54	0.40534	.	0.168765	0.42682	D	0.000676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.8231	12.9843	0.58583	0.0:0.8373:0.1627:0.0	.	.	.	.	X	6	.	ENSP00000261758:W6X	W	-	3	0	MESDC2	79069170	0.019000	0.18553	0.015000	0.15790	0.010000	0.07245	0.457000	0.21875	1.185000	0.42971	0.591000	0.81541	TGG		0.711	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		3	11	0	0	0	1	0	3	11				
ZNF383	163087	broad.mit.edu	37	19	37733572	37733572	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:37733572C>T	ENST00000589413.1	+	8	1017	c.434C>T	c.(433-435)cCt>cTt	p.P145L	ZNF383_ENST00000352998.3_Missense_Mutation_p.P145L|ZNF383_ENST00000590503.1_Missense_Mutation_p.P145L			Q8NA42	ZN383_HUMAN	zinc finger protein 383	145					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATTCACTCCTGAATACATG	0.368																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(433-435)cCt>cTt		zinc finger protein 383							84.0	90.0	88.0					19																	37733572		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37733572C>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.434C>T	19.37:g.37733572C>T	ENSP00000464871:p.Pro145Leu					ZNF383_ENST00000352998.3_Missense_Mutation_p.P145L|ZNF383_ENST00000590503.1_Missense_Mutation_p.P145L	p.P145L			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1017	+			145					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.434C>T	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	C	2.303	-0.359676	0.05138	.	.	ENSG00000188283	ENST00000352998	T	0.05996	3.36	4.11	-2.33	0.06724	.	0.866515	0.09394	N	0.808095	T	0.03520	0.0101	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.42682	-0.9437	10	0.41790	T	0.15	.	5.8448	0.18659	0.3483:0.4621:0.1896:0.0	.	145	Q8NA42	ZN383_HUMAN	L	145	ENSP00000340132:P145L	ENSP00000340132:P145L	P	+	2	0	ZNF383	42425412	0.009000	0.17119	0.029000	0.17559	0.816000	0.46133	-0.103000	0.10940	-0.677000	0.05231	-0.457000	0.05445	CCT		0.368	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		26	50	0	0	0	1	0	26	50				
IGKV2D-24	28885	broad.mit.edu	37	2	90043678	90043678	+	RNA	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:90043678G>C	ENST00000462693.1	+	0	72									immunoglobulin kappa variable 2D-24 (non-functional)																		TAATGCTCTGGGTCCCTGGTG	0.542																																						ENST00000462693.1																			0																				32.0	28.0	29.0					2																	90043678		1808	4046	5854			28885							g.chr2:90043678G>C	X63401		2p11.2	2012-02-08	2008-09-10		ENSG00000241566	ENSG00000241566		"""Immunoglobulins / IGK locus"""	5797	other	immunoglobulin gene			"""immunoglobulin kappa variable 2D-24"""				Standard	NG_000833		Approved				OTTHUMG00000151618		2.37:g.90043678G>C														0	72	+									RNA	SNP	ENST00000462693.1	37																																																																																						0.542	IGKV2D-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323290.1	NG_000833		3	11	0	0	0	1	0	3	11				
SAMD8	142891	broad.mit.edu	37	10	76910800	76910800	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:76910800A>G	ENST00000542569.1	+	2	617	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SAMD8_ENST00000372690.3_Missense_Mutation_p.I235V|SAMD8_ENST00000372687.4_Missense_Mutation_p.I172V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	172					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CATTATGGTTATAGTCCATGA	0.368																																						ENST00000542569.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(514-516)Ata>Gta		sterile alpha motif domain containing 8							59.0	57.0	57.0					10																	76910800		2203	4300	6503	SO:0001583	missense	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76910800A>G	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.514A>G	10.37:g.76910800A>G	ENSP00000438042:p.Ile172Val					SAMD8_ENST00000372687.3_Missense_Mutation_p.I172V|SAMD8_ENST00000372690.3_Missense_Mutation_p.I235V	p.I172V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN			2	617	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		172					Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	ENST00000542569.1	37	c.514A>G	CCDS53543.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378806	0.42207	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.13030	0.0316	L	0.28192	0.835	0.52501	D	0.999952	P;B	0.38597	0.639;0.044	B;B	0.36959	0.237;0.049	T	0.12993	-1.0526	10	0.13108	T	0.6	-24.7397	15.9627	0.79941	1.0:0.0:0.0:0.0	.	172;172	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	V	172;235;172;172	ENSP00000391799:I172V;ENSP00000361775:I235V;ENSP00000438042:I172V;ENSP00000361772:I172V	ENSP00000361772:I172V	I	+	1	0	SAMD8	76580806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.125000	0.64715	2.179000	0.69175	0.402000	0.26972	ATA		0.368	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		15	47	0	0	0	1	0	15	47				
DCC	1630	broad.mit.edu	37	18	50432611	50432611	+	Missense_Mutation	SNP	C	C	A	rs200878561		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:50432611C>A	ENST00000442544.2	+	3	1226	c.610C>A	c.(610-612)Ccg>Acg	p.P204T	DCC_ENST00000412726.1_Missense_Mutation_p.P52T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	204	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGACTCCAACCGGGGGACAT	0.502																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(610-612)Ccg>Acg		deleted in colorectal carcinoma							81.0	77.0	79.0					18																	50432611		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50432611C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.610C>A	18.37:g.50432611C>A	ENSP00000389140:p.Pro204Thr					DCC_ENST00000412726.1_Missense_Mutation_p.P52T	p.P204T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	1226	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	204			Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.610C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344860	0.24426	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.39997	1.05;1.05	5.71	3.8	0.43715	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.143697	0.46442	D	0.000289	T	0.31009	0.0783	L	0.39566	1.225	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.003;0.007	T	0.09378	-1.0677	10	0.30078	T	0.28	.	8.3254	0.32153	0.2632:0.4652:0.2716:0.0	.	52;204	E7EQM8;P43146	.;DCC_HUMAN	T	204;137;52	ENSP00000389140:P204T;ENSP00000397322:P52T	ENSP00000304146:P137T	P	+	1	0	DCC	48686609	0.020000	0.18652	0.173000	0.22940	0.820000	0.46376	0.541000	0.23207	1.392000	0.46585	-0.175000	0.13238	CCG		0.502	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		9	19	1	0	0.00448238	1	0.00461719	9	19				
ST8SIA2	8128	broad.mit.edu	37	15	93007600	93007600	+	Silent	SNP	C	C	T	rs113311093		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:93007600C>T	ENST00000268164.3	+	6	1350	c.1113C>T	c.(1111-1113)tgC>tgT	p.C371C	ST8SIA2_ENST00000539113.1_Silent_p.C350C	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	371					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCGGCCAGTGCGATGGGGCCA	0.597																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(1111-1113)tgC>tgT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							74.0	71.0	72.0					15																	93007600		2198	4298	6496	SO:0001819	synonymous_variant	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:93007600C>T	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.1113C>T	15.37:g.93007600C>T						ST8SIA2_ENST00000539113.1_Silent_p.C350C	p.C371C	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		6	1350	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		371					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.1113C>T	CCDS10372.1																																																																																				0.597	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		26	59	0	0	0	1	0	26	59				
B3GNT1	11041	broad.mit.edu	37	11	66113556	66113556	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:66113556C>G	ENST00000311181.4	-	2	1358	c.1212G>C	c.(1210-1212)ttG>ttC	p.L404F	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	404					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						ACTTGGCCTTCAACTCCTGTT	0.512																																						ENST00000311181.4																			0				breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						c.(1210-1212)ttG>ttC		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1							275.0	246.0	256.0					11																	66113556		2200	4295	6495	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66113556C>G	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.1212G>C	11.37:g.66113556C>G	ENSP00000309096:p.Leu404Phe						p.L404F	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN			2	1358	-			404					Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.1212G>C	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005523	0.54254	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.28255	1.62	5.29	5.29	0.74685	.	0.080643	0.50627	D	0.000103	T	0.53867	0.1823	M	0.79343	2.45	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.57219	-0.7849	10	0.66056	D	0.02	-14.8723	9.9725	0.41763	0.0:0.9078:0.0:0.0922	.	404	O43505	B3GN1_HUMAN	F	404;175	ENSP00000309096:L404F	ENSP00000309096:L404F	L	-	3	2	B3GNT1	65870132	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.243000	0.43115	2.482000	0.83794	0.655000	0.94253	TTG		0.512	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		24	155	0	0	0	1	0	24	155				
TTC3	7267	broad.mit.edu	37	21	38567994	38567994	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr21:38567994C>T	ENST00000399017.2	+	42	7983	c.5236C>T	c.(5236-5238)Cct>Tct	p.P1746S	TTC3_ENST00000355666.1_Missense_Mutation_p.P1746S|TTC3_ENST00000354749.2_Missense_Mutation_p.P1746S|TTC3_ENST00000479930.1_3'UTR|TTC3-AS1_ENST00000424733.1_RNA	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1746					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CGAGTTACTCCCTGAGTCTTC	0.532																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(5236-5238)Cct>Tct		tetratricopeptide repeat domain 3							244.0	253.0	250.0					21																	38567994		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38567994C>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5236C>T	21.37:g.38567994C>T	ENSP00000381981:p.Pro1746Ser					TTC3_ENST00000355666.1_Missense_Mutation_p.P1746S|TTC3_ENST00000354749.2_Missense_Mutation_p.P1746S|TTC3_ENST00000479930.1_3'UTR	p.P1746S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			42	7983	+		Myeloproliferative disorder(46;0.0412)	1746					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.5236C>T	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.827|7.827	0.719118|0.719118	0.15372|0.15372	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000428693|ENST00000355666;ENST00000399017;ENST00000354749	.|T;T;T	.|0.08008	.|3.14;3.14;3.14	4.72|4.72	0.643|0.643	0.17770|0.17770	.|.	0.413030|0.413030	0.20641|0.20641	N|N	0.088414|0.088414	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.25890|0.25890	0.77|0.77	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.38222|0.38222	-0.9671|-0.9671	6|10	.|0.27785	.|T	.|0.31	-0.3746|-0.3746	1.5703|1.5703	0.02613|0.02613	0.171:0.4722:0.166:0.1908|0.171:0.4722:0.166:0.1908	.|.	.|1746	.|P53804	.|TTC3_HUMAN	L|S	37|1746	.|ENSP00000347889:P1746S;ENSP00000381981:P1746S;ENSP00000346791:P1746S	.|ENSP00000346791:P1746S	P|P	+|+	2|1	0|0	TTC3|TTC3	37489864|37489864	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.292000|-0.292000	0.08332|0.08332	-0.084000|-0.084000	0.12595|0.12595	-0.261000|-0.261000	0.10672|0.10672	CCC|CCT		0.532	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			40	201	0	0	0	1	0	40	201				
TRHR	7201	broad.mit.edu	37	8	110131301	110131301	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:110131301G>T	ENST00000518632.1	+	3	1165	c.814G>T	c.(814-816)Gta>Tta	p.V272L	TRHR_ENST00000311762.2_Missense_Mutation_p.V272L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	272					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGCAGTGGTTGTAATTCTGTT	0.413																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(814-816)Gta>Tta		thyrotropin-releasing hormone receptor							247.0	243.0	244.0					8																	110131301		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131301G>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.814G>T	8.37:g.110131301G>T	ENSP00000430711:p.Val272Leu					TRHR_ENST00000311762.2_Missense_Mutation_p.V272L	p.V272L			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		3	1165	+			272					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.814G>T	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220958	0.95139	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.68025	-0.3;-0.3	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.109437	0.64402	D	0.000007	D	0.85208	0.5644	M	0.91354	3.2	0.80722	D	1	D	0.59767	0.986	D	0.63283	0.913	D	0.86176	0.1603	10	0.51188	T	0.08	-9.5197	19.6407	0.95757	0.0:0.0:1.0:0.0	.	272	P34981	TRFR_HUMAN	L	272	ENSP00000430711:V272L;ENSP00000309818:V272L	ENSP00000309818:V272L	V	+	1	0	TRHR	110200477	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.773000	0.98989	2.890000	0.99128	0.585000	0.79938	GTA		0.413	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			192	175	1	0	1.42079e-92	1	1.88979e-92	192	175				
AGAP2-AS1	100130776	broad.mit.edu	37	12	58121034	58121034	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:58121034G>A	ENST00000542466.2	+	2	395	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	RP11-571M6.8_ENST00000548410.2_RNA|AGAP2_ENST00000257897.3_Intron|AGAP2_ENST00000547588.1_Intron					AGAP2 antisense RNA 1																		GGGATCAACGGAAAAGGCTCT	0.652																																						ENST00000542466.2																			0											c.(259-261)Gaa>Aaa									16.0	20.0	19.0					12																	58121034		2200	4285	6485	SO:0001583	missense	100130776							g.chr12:58121034G>A	BC039697, BC069024		12q14.1	2013-05-30			ENSG00000255737	ENSG00000255737		"""Long non-coding RNAs"""	48633	non-coding RNA	RNA, long non-coding							Standard	NR_027032		Approved				OTTHUMG00000170286	ENST00000542466.2:c.259G>A	12.37:g.58121034G>A	ENSP00000437523:p.Glu87Lys					AGAP2_ENST00000257897.3_Intron|AGAP2_ENST00000547588.1_Intron	p.E87K							2	395	+									Missense_Mutation	SNP	ENST00000542466.2	37	c.259G>A		.	.	.	.	.	.	.	.	.	.	G	2.283	-0.364193	0.05103	.	.	ENSG00000255737	ENST00000542466	.	.	.	4.83	1.94	0.25998	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.20196	N	0.999927	B	0.02656	0.0	B	0.01281	0.0	T	0.28364	-1.0046	7	0.87932	D	0	.	5.547	0.17069	0.1842:0.1625:0.6533:0.0	.	87	B7Z718	.	K	87	.	ENSP00000437523:E87K	E	+	1	0	RP11-571M6.6	56407301	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.108000	0.15396	0.183000	0.20059	-0.156000	0.13503	GAA		0.652	AGAP2-AS1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000408368.1			3	28	0	0	0	1	0	3	28				
RIF1	55183	broad.mit.edu	37	2	152276855	152276855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:152276855C>T	ENST00000243326.5	+	6	1138	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	RIF1_ENST00000430328.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000433166.2_Nonsense_Mutation_p.Q219*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAGAAACAGCAAGAAATAGC	0.413																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(655-657)Caa>Taa		RAP1 interacting factor homolog (yeast)							100.0	85.0	90.0					2																	152276855		2203	4300	6503	SO:0001587	stop_gained	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152276855C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.655C>T	2.37:g.152276855C>T	ENSP00000243326:p.Gln219*					RIF1_ENST00000433166.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.Q219*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.Q219*	p.Q219*			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	6	1138	+			219					A0AVS0|Q9NS16	Nonsense_Mutation	SNP	ENST00000243326.5	37	c.655C>T	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.607676|4.607676	0.87157|0.87157	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.302944	.|0.36815	.|N	.|0.002383	T|.	0.79851|.	0.4517|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77627|.	-0.2517|.	3|.	.|0.44086	.|T	.|0.13	-5.1449|-5.1449	19.858|19.858	0.96771|0.96771	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	210|219	.|.	.|ENSP00000243326:Q219X	A|Q	+|+	2|1	0|0	RIF1|RIF1	151985101|151985101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.663000|3.663000	0.54518|0.54518	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GCA|CAA		0.413	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			15	29	0	0	0	1	0	15	29				
IQCH	64799	broad.mit.edu	37	15	67786666	67786666	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:67786666A>G	ENST00000335894.4	+	20	2998	c.2932A>G	c.(2932-2934)Ata>Gta	p.I978V	IQCH_ENST00000546225.1_Missense_Mutation_p.I635V|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Missense_Mutation_p.N618S|IQCH_ENST00000358767.3_Missense_Mutation_p.N693S	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	978										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCATCAAGAAATATCAGCACC	0.398																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(2932-2934)Ata>Gta		IQ motif containing H							95.0	85.0	88.0					15																	67786666		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67786666A>G	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2932A>G	15.37:g.67786666A>G	ENSP00000336861:p.Ile978Val					IQCH_ENST00000360277.4_Missense_Mutation_p.N618S|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000546225.1_Missense_Mutation_p.I635V|IQCH_ENST00000358767.3_Missense_Mutation_p.N693S	p.I978V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	20	2998	+			978					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2932A>G	CCDS32273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.83|17.83	3.484582|3.484582	0.63962|0.63962	.|.	.|.	ENSG00000103599|ENSG00000103599	ENST00000546225;ENST00000335894|ENST00000358767;ENST00000360277	T;T|T;T	0.12361|0.43688	2.69;2.69|0.95;0.94	5.62|5.62	4.5|4.5	0.54988|0.54988	.|.	0.088618|.	0.85682|.	N|.	0.000000|.	T|T	0.42337|0.42337	0.1198|0.1198	M|M	0.80847|0.80847	2.515|2.515	0.38176|0.38176	D|D	0.93947|0.93947	D;P|P	0.63046|0.35872	0.992;0.754|0.525	P;P|B	0.62014|0.33454	0.897;0.525|0.164	T|T	0.50600|0.50600	-0.8809|-0.8809	10|9	0.66056|0.87932	D|D	0.02|0	-20.2432|-20.2432	7.0708|7.0708	0.25177|0.25177	0.7967:0.0:0.0713:0.1319|0.7967:0.0:0.0713:0.1319	.|.	635;978|618	Q86VS3-2;Q86VS3|Q86VS3-4	.;IQCH_HUMAN|.	V|S	635;978|693;618	ENSP00000444118:I635V;ENSP00000336861:I978V|ENSP00000351617:N693S;ENSP00000353419:N618S	ENSP00000336861:I978V|ENSP00000351617:N693S	I|N	+|+	1|2	0|0	IQCH|IQCH	65573720|65573720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.776000|5.776000	0.68924|0.68924	0.981000|0.981000	0.38548|0.38548	0.528000|0.528000	0.53228|0.53228	ATA|AAT		0.398	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		8	30	0	0	0	1	0	8	30				
OR2T3	343173	broad.mit.edu	37	1	248637082	248637082	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:248637082G>T	ENST00000359594.2	+	1	456	c.431G>T	c.(430-432)aGg>aTg	p.R144M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAACCAGAGGGTGTGCCAG	0.552																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(430-432)aGg>aTg		olfactory receptor, family 2, subfamily T, member 3							27.0	27.0	27.0					1																	248637082		2194	4274	6468	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637082G>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.431G>T	1.37:g.248637082G>T	ENSP00000352604:p.Arg144Met						p.R144M	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	456	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		144					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.431G>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	g	12.40	1.926733	0.34002	.	.	ENSG00000196539	ENST00000359594	T	0.43688	0.94	2.37	-3.94	0.04130	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61813	0.2377	M	0.90019	3.08	0.09310	N	1	D	0.64830	0.994	P	0.62740	0.906	T	0.57487	-0.7803	9	0.66056	D	0.02	.	8.4808	0.33040	0.387:0.0:0.613:0.0	.	144	Q8NH03	OR2T3_HUMAN	M	144	ENSP00000352604:R144M	ENSP00000352604:R144M	R	+	2	0	OR2T3	246703705	0.000000	0.05858	0.003000	0.11579	0.272000	0.26649	-2.955000	0.00675	-0.587000	0.05890	-1.101000	0.02118	AGG		0.552	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		8	41	1	0	4.68919e-08	1	5.1808e-08	8	41				
CDH10	1008	broad.mit.edu	37	5	24505331	24505331	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:24505331A>T	ENST00000264463.4	-	8	1790	c.1283T>A	c.(1282-1284)cTt>cAt	p.L428H		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATTCTGTCAAGGTCAGTATG	0.358										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1282-1284)cTt>cAt		cadherin 10, type 2 (T2-cadherin)							94.0	91.0	92.0					5																	24505331		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24505331A>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1283T>A	5.37:g.24505331A>T	ENSP00000264463:p.Leu428His	HNSCC(23;0.051)					p.L428H	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	8	1790	-			428			Cadherin 4.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1283T>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050141	0.75846	.	.	ENSG00000040731	ENST00000264463	T	0.60672	0.17	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.131296	0.50627	D	0.000105	T	0.72819	0.3508	M	0.66297	2.02	0.47123	D	0.99932	D	0.65815	0.995	D	0.69142	0.962	T	0.73357	-0.4008	10	0.44086	T	0.13	.	14.9114	0.70761	1.0:0.0:0.0:0.0	.	428	Q9Y6N8	CAD10_HUMAN	H	428	ENSP00000264463:L428H	ENSP00000264463:L428H	L	-	2	0	CDH10	24541088	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.725000	0.91468	2.102000	0.63906	0.533000	0.62120	CTT		0.358	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		34	47	0	0	0	1	0	34	47				
MIR516A1	574498	broad.mit.edu	37	19	54257333	54257333	+	RNA	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:54257333C>G	ENST00000385033.1	+	0	0				MIR522_ENST00000385071.1_RNA|MIR519A1_ENST00000385257.1_RNA|MIR527_ENST00000385244.1_RNA	NR_030220.1				microRNA 516a-1																		AAAGTGCTTCCCTTTGGTGAA	0.443																																						ENST00000385244.1																			0																				119.0	114.0	116.0					19																	54257333		1568	3582	5150			574497							g.chr19:54257333C>G			19q13.42	2011-09-12	2007-10-23	2008-12-18	ENSG00000207767	ENSG00000207767		"""ncRNAs / Micro RNAs"""	32130	non-coding RNA	RNA, micro			"""microRNA 516-1"""	MIRN516-1, MIRN516A1			Standard	NR_030220		Approved	hsa-mir-516-1, hsa-mir-516a-1	uc021vaw.1				19.37:g.54257333C>G								NR_030219.1						0	62	+									RNA	SNP	ENST00000385033.1	37																																																																																						0.443	MIR516A1-201	KNOWN	basic	miRNA	miRNA		NR_030220		24	111	0	0	0	1	0	24	111				
TAGLN2	8407	broad.mit.edu	37	1	159890213	159890213	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:159890213G>A	ENST00000368097.4	-	2	397	c.87C>T	c.(85-87)atC>atT	p.I29I	TAGLN2_ENST00000368096.1_Silent_p.I50I|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Silent_p.I29I	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	29	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGATCAGGATCTGCTCCA	0.582																																						ENST00000368097.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(85-87)atC>atT		transgelin 2							54.0	50.0	52.0					1																	159890213		2203	4300	6503	SO:0001819	synonymous_variant	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159890213G>A	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.87C>T	1.37:g.159890213G>A						TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Silent_p.I50I|TAGLN2_ENST00000320307.4_Silent_p.I29I	p.I29I	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	397	-	all_hematologic(112;0.0597)		29			CH.		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Silent	SNP	ENST00000368097.4	37	c.87C>T	CCDS1189.1																																																																																				0.582	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564		12	44	0	0	0	1	0	12	44				
CHD9	80205	broad.mit.edu	37	16	53358379	53358379	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:53358379A>G	ENST00000398510.3	+	38	8353	c.8266A>G	c.(8266-8268)Agg>Ggg	p.R2756G	CHD9_ENST00000564845.1_Missense_Mutation_p.R2740G|CHD9_ENST00000447540.1_Missense_Mutation_p.R2741G|CHD9_ENST00000566029.1_Missense_Mutation_p.R2740G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2756					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAAACAGAAAGGACAGAGAG	0.463																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(8218-8220)Agg>Ggg		chromodomain helicase DNA binding protein 9							53.0	53.0	53.0					16																	53358379		1931	4150	6081	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358379A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8266A>G	16.37:g.53358379A>G	ENSP00000381522:p.Arg2756Gly					CHD9_ENST00000398510.3_Missense_Mutation_p.R2756G|CHD9_ENST00000447540.1_Missense_Mutation_p.R2741G|CHD9_ENST00000564845.1_Missense_Mutation_p.R2740G	p.R2740G			Q3L8U1	CHD9_HUMAN			39	8427	+		all_cancers(37;0.0212)	2756					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.8218A>G		.	.	.	.	.	.	.	.	.	.	A	12.33	1.906517	0.33628	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.85861	-2.04	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000007	D	0.88533	0.6462	L	0.40543	1.245	0.54753	D	0.999988	D;D;D;D	0.67145	0.996;0.996;0.987;0.996	P;P;D;P	0.66196	0.906;0.851;0.942;0.851	D	0.89145	0.3519	10	0.54805	T	0.06	-11.9027	15.8507	0.78927	1.0:0.0:0.0:0.0	.	822;2741;2756;2740	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	G	2741;2740;822	ENSP00000396345:R2741G	ENSP00000381522:R2740G	R	+	1	2	CHD9	51915880	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.994000	0.70623	2.203000	0.70933	0.533000	0.62120	AGG		0.463	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		15	33	0	0	0	1	0	15	33				
ZNF611	81856	broad.mit.edu	37	19	53209236	53209236	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:53209236G>A	ENST00000319783.1	-	7	1388	c.1072C>T	c.(1072-1074)Ctt>Ttt	p.L358F	ZNF611_ENST00000453741.2_Missense_Mutation_p.L289F|ZNF611_ENST00000602162.1_Missense_Mutation_p.L289F|ZNF611_ENST00000595798.1_Missense_Mutation_p.L289F|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000543227.1_Missense_Mutation_p.L358F|ZNF611_ENST00000540744.1_Missense_Mutation_p.L358F	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGATGTGAAAGTTGTGATTGT	0.343																																						ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1072-1074)Ctt>Ttt		zinc finger protein 611							54.0	55.0	55.0					19																	53209236		2203	4299	6502	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53209236G>A	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1072C>T	19.37:g.53209236G>A	ENSP00000322427:p.Leu358Phe					ZNF611_ENST00000540744.1_Missense_Mutation_p.L358F|ZNF611_ENST00000595798.1_Missense_Mutation_p.L289F|ZNF611_ENST00000602162.1_Missense_Mutation_p.L289F|ZNF611_ENST00000453741.2_Missense_Mutation_p.L289F|ZNF611_ENST00000319783.1_Missense_Mutation_p.L358F	p.L358F	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1346	-			358					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1072C>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	5.659	0.306195	0.10733	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	1.69	-3.37	0.04898	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34687	0.0906	M	0.78049	2.395	0.09310	N	1	P	0.47604	0.898	P	0.52627	0.704	T	0.17745	-1.0359	9	0.52906	T	0.07	.	4.168	0.10315	0.2404:0.0:0.5871:0.1724	.	358	Q8N823	ZN611_HUMAN	F	358;358;289;358	ENSP00000437616:L358F;ENSP00000439211:L358F;ENSP00000443505:L289F;ENSP00000322427:L358F	ENSP00000322427:L358F	L	-	1	0	ZNF611	57901048	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.284000	0.18864	-1.460000	0.01911	-2.826000	0.00107	CTT		0.343	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		9	71	0	0	0	1	0	9	71				
DOCK7	85440	broad.mit.edu	37	1	62921091	62921091	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:62921091A>G	ENST00000340370.5	-	49	6341	c.6324T>C	c.(6322-6324)gaT>gaC	p.D2108D	DOCK7_ENST00000251157.5_Silent_p.D2128D	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2139	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAGTTTAGAGATCCATTTTGC	0.348																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(6382-6384)gaT>gaC		dedicator of cytokinesis 7							81.0	75.0	77.0					1																	62921091		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62921091A>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.6324T>C	1.37:g.62921091A>G						DOCK7_ENST00000340370.5_Silent_p.D2108D	p.D2128D	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			49	6417	-			2139					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.6384T>C	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	8.599	0.886453	0.17540	.	.	ENSG00000116641	ENST00000454575;ENST00000395441	.	.	.	5.34	-2.61	0.06171	.	.	.	.	.	T	0.52191	0.1719	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55108	-0.8192	5	0.72032	D	0.01	.	2.0307	0.03529	0.2912:0.1115:0.378:0.2193	.	.	.	.	P	1302;872	.	ENSP00000378828:S872P	S	-	1	0	DOCK7	62693679	0.995000	0.38212	0.992000	0.48379	0.968000	0.65278	0.350000	0.20079	-0.347000	0.08299	0.533000	0.62120	TCT		0.348	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		19	27	0	0	0	1	0	19	27				
EMC3	55831	broad.mit.edu	37	3	10049172	10049172	+	lincRNA	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:10049172C>G	ENST00000383808.2	-	0	826				AC034193.5_ENST00000326237.3_RNA																							ATTGGCCTTTCTGCTTCGATG	0.582																																						ENST00000383808.2																			0																				134.0	131.0	132.0					3																	10049172		1976	4146	6122			55831							g.chr3:10049172C>G																													3.37:g.10049172C>G														0	826	-									RNA	SNP	ENST00000383808.2	37																																																																																						0.582	AC022007.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339469.1			33	64	0	0	0	1	0	33	64				
KNTC1	9735	broad.mit.edu	37	12	123095404	123095404	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:123095404A>G	ENST00000333479.7	+	53	5756	c.5579A>G	c.(5578-5580)tAt>tGt	p.Y1860C	KNTC1_ENST00000537348.1_Missense_Mutation_p.Y285C|KNTC1_ENST00000450485.2_Missense_Mutation_p.Y785C|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1860					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CCAATTGATTATAGTTCAAGA	0.328																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(5578-5580)tAt>tGt		kinetochore associated 1							123.0	113.0	116.0					12																	123095404		1843	4089	5932	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123095404A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5579A>G	12.37:g.123095404A>G	ENSP00000328236:p.Tyr1860Cys					KNTC1_ENST00000450485.2_Missense_Mutation_p.Y785C|KNTC1_ENST00000537348.1_Missense_Mutation_p.Y285C|KNTC1_ENST00000436959.3_5'UTR	p.Y1860C	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	53	5756	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1860					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.5579A>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.088322	0.55968	.	.	ENSG00000184445	ENST00000450485;ENST00000333479;ENST00000537348;ENST00000546125	T;T;T;T	0.49139	1.88;2.37;0.79;1.45	4.79	4.79	0.61399	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.347798	0.32901	N	0.005504	T	0.64768	0.2628	M	0.63428	1.95	0.42933	D	0.994324	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.971	T	0.67906	-0.5549	10	0.56958	D	0.05	-15.1497	13.807	0.63238	1.0:0.0:0.0:0.0	.	785;1860	E7ES84;P50748	.;KNTC1_HUMAN	C	785;1860;285;47	ENSP00000397992:Y785C;ENSP00000328236:Y1860C;ENSP00000443622:Y285C;ENSP00000439119:Y47C	ENSP00000328236:Y1860C	Y	+	2	0	KNTC1	121661357	0.998000	0.40836	0.933000	0.37362	0.726000	0.41606	4.307000	0.59123	1.910000	0.55303	0.528000	0.53228	TAT		0.328	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			15	34	0	0	0	1	0	15	34				
RASGRP4	115727	broad.mit.edu	37	19	38903847	38903847	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:38903847C>T	ENST00000587738.1	-	11	1472	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	RASGRP4_ENST00000586305.1_Missense_Mutation_p.E454K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E371K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E376K|RASGRP4_ENST00000587753.1_Missense_Mutation_p.E399K|RASGRP4_ENST00000426920.2_Missense_Mutation_p.E279K|RASGRP4_ENST00000454404.2_Missense_Mutation_p.E434K			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	468	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCAGCTGCTCCACATGCCGA	0.667																																						ENST00000454404.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23						c.(1300-1302)Gag>Aag		RAS guanyl releasing protein 4							23.0	26.0	25.0					19																	38903847		2002	4135	6137	SO:0001583	missense	115727				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	g.chr19:38903847C>T	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1402G>A	19.37:g.38903847C>T	ENSP00000465772:p.Glu468Lys					RASGRP4_ENST00000426920.2_Missense_Mutation_p.E279K|RASGRP4_ENST00000587753.1_Missense_Mutation_p.E399K|RASGRP4_ENST00000293062.9_Missense_Mutation_p.E371K|RASGRP4_ENST00000586305.1_Missense_Mutation_p.E454K|RASGRP4_ENST00000587738.1_Missense_Mutation_p.E468K|RASGRP4_ENST00000433821.2_Missense_Mutation_p.E376K	p.E434K	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		11	1513	-	all_cancers(60;4.21e-06)		468					A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	37	c.1300G>A	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891195	0.72524	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T	0.38887	1.11;1.11;1.11	5.82	4.79	0.61399	.	0.247223	0.47455	N	0.000233	T	0.52419	0.1733	L	0.38838	1.175	0.42452	D	0.992753	D;B;B;P;B;B;P	0.69078	0.997;0.125;0.012;0.954;0.012;0.189;0.954	D;B;B;B;B;B;B	0.75020	0.985;0.118;0.012;0.437;0.012;0.155;0.437	T	0.53287	-0.8460	10	0.49607	T	0.09	-20.6103	12.5828	0.56399	0.0:0.9195:0.0:0.0805	.	279;371;376;434;399;454;468	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	K	376;371;279;468;468	ENSP00000411878:E376K;ENSP00000293062:E371K;ENSP00000445966:E279K	ENSP00000293062:E371K	E	-	1	0	RASGRP4	43595687	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	2.542000	0.45744	1.458000	0.47871	0.655000	0.94253	GAG		0.667	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604		13	20	0	0	0	1	0	13	20				
MED25	81857	broad.mit.edu	37	19	50334077	50334077	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:50334077G>T	ENST00000312865.6	+	9	1087	c.1034G>T	c.(1033-1035)aGt>aTt	p.S345I	MED25_ENST00000538643.1_Missense_Mutation_p.S132I	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	345	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCCCAGCCCAGTCTGGTCTCC	0.726																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(1033-1035)aGt>aTt		mediator complex subunit 25							35.0	40.0	38.0					19																	50334077		2200	4296	6496	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50334077G>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1034G>T	19.37:g.50334077G>T	ENSP00000326767:p.Ser345Ile					MED25_ENST00000538643.1_Missense_Mutation_p.S132I	p.S345I	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	9	1087	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	345			Pro-rich.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.1034G>T	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826713	0.50739	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	D;D	0.83837	-1.77;-1.77	5.58	2.35	0.29111	Mediator complex, subunit Med25, synapsin 1 (1);	0.440036	0.26708	N	0.022902	T	0.78578	0.4305	N	0.14661	0.345	0.37509	D	0.917075	D;D;D	0.53462	0.96;0.96;0.96	P;P;P	0.57776	0.827;0.827;0.827	T	0.80899	-0.1176	10	0.52906	T	0.07	.	10.2332	0.43266	0.2162:0.0:0.7838:0.0	.	132;345;345	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	I	345;345;345;345;345;132;80	ENSP00000326767:S345I;ENSP00000437496:S132I	ENSP00000326767:S345I	S	+	2	0	MED25	55025889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.221000	0.32503	1.360000	0.45960	0.655000	0.94253	AGT		0.726	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		24	42	1	0	1.10923e-09	1	1.26637e-09	24	42				
LRRC27	80313	broad.mit.edu	37	10	134147162	134147162	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:134147162C>T	ENST00000368614.3	+	2	239	c.134C>T	c.(133-135)tCc>tTc	p.S45F	STK32C_ENST00000368625.4_5'Flank|LRRC27_ENST00000368615.3_Missense_Mutation_p.S45F|LRRC27_ENST00000368613.4_Missense_Mutation_p.S45F|LRRC27_ENST00000356571.4_Missense_Mutation_p.S45F|LRRC27_ENST00000344079.5_Missense_Mutation_p.S45F|LRRC27_ENST00000368612.1_5'Flank|LRRC27_ENST00000392638.2_Missense_Mutation_p.S45F	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	45										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ATCATCTTTTCCTCCTCACCG	0.542																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(133-135)tCc>tTc		leucine rich repeat containing 27							107.0	97.0	100.0					10																	134147162		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134147162C>T	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.134C>T	10.37:g.134147162C>T	ENSP00000357603:p.Ser45Phe					LRRC27_ENST00000368615.3_Missense_Mutation_p.S45F|LRRC27_ENST00000368614.3_Missense_Mutation_p.S45F|LRRC27_ENST00000368613.4_Missense_Mutation_p.S45F|LRRC27_ENST00000344079.5_Missense_Mutation_p.S45F|LRRC27_ENST00000356571.4_Missense_Mutation_p.S45F	p.S45F			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	2	329	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	45					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.134C>T	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262296	0.39995	.	.	ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000356571;ENST00000368614;ENST00000368613	T;T;T;T;T;T	0.63255	2.41;2.33;2.33;-0.03;2.31;2.31	4.42	2.47	0.30058	.	0.357194	0.20794	N	0.085569	T	0.65719	0.2718	L	0.36672	1.1	0.09310	N	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.967;0.987;0.992	T	0.53947	-0.8366	10	0.72032	D	0.01	-5.6988	6.5702	0.22535	0.0:0.7152:0.182:0.1028	.	45;45;45	Q9C0I9-4;Q9C0I9;Q9C0I9-3	.;LRC27_HUMAN;.	F	45	ENSP00000357604:S45F;ENSP00000376413:S45F;ENSP00000342641:S45F;ENSP00000348978:S45F;ENSP00000357603:S45F;ENSP00000357602:S45F	ENSP00000342641:S45F	S	+	2	0	LRRC27	133997152	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.656000	0.37355	0.516000	0.28340	0.655000	0.94253	TCC		0.542	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		6	33	0	0	0	1	0	6	33				
ZZEF1	23140	broad.mit.edu	37	17	3921231	3921231	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:3921231T>A	ENST00000381638.2	-	47	7664	c.7540A>T	c.(7540-7542)Ata>Tta	p.I2514L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2514							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGGGACCGTATCCTTTCATCT	0.507																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(7540-7542)Ata>Tta		zinc finger, ZZ-type with EF-hand domain 1							122.0	103.0	109.0					17																	3921231		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3921231T>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7540A>T	17.37:g.3921231T>A	ENSP00000371051:p.Ile2514Leu						p.I2514L	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			47	7664	-			2514					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.7540A>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352431	0.61293	.	.	ENSG00000074755	ENST00000381638	T	0.29655	1.56	5.53	4.38	0.52667	.	0.050727	0.85682	D	0.000000	T	0.17023	0.0409	N	0.14661	0.345	0.47737	D	0.999506	B	0.27882	0.192	B	0.26517	0.07	T	0.06661	-1.0814	10	0.87932	D	0	-14.1901	6.9049	0.24303	0.0:0.0752:0.1519:0.7729	.	2514	O43149	ZZEF1_HUMAN	L	2514	ENSP00000371051:I2514L	ENSP00000371051:I2514L	I	-	1	0	ZZEF1	3867980	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.642000	0.61383	2.100000	0.63781	0.528000	0.53228	ATA		0.507	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		11	41	0	0	0	1	0	11	41				
ABCA13	154664	broad.mit.edu	37	7	48318540	48318540	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:48318540A>G	ENST00000435803.1	+	18	7773	c.7749A>G	c.(7747-7749)acA>acG	p.T2583T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2583					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCATTTCACATTTGAAAAGA	0.308																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7747-7749)acA>acG		ATP-binding cassette, sub-family A (ABC1), member 13							54.0	57.0	56.0					7																	48318540		1803	4063	5866	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318540A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7749A>G	7.37:g.48318540A>G							p.T2583T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7773	+			2583					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.7749A>G	CCDS47584.1																																																																																				0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		23	55	0	0	0	1	0	23	55				
KDM4C	23081	broad.mit.edu	37	9	6986506	6986506	+	Missense_Mutation	SNP	C	C	T	rs376253166		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:6986506C>T	ENST00000381309.3	+	11	2082	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	KDM4C_ENST00000536108.1_Missense_Mutation_p.S325L|KDM4C_ENST00000543771.1_Missense_Mutation_p.S506L|KDM4C_ENST00000535193.1_Missense_Mutation_p.S528L|KDM4C_ENST00000381306.3_Missense_Mutation_p.S506L|KDM4C_ENST00000442236.2_Missense_Mutation_p.S325L|KDM4C_ENST00000428870.2_Missense_Mutation_p.S193L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	506					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TCCGAGCTTTCATGGCCAAAG	0.478																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1516-1518)tCa>tTa		lysine (K)-specific demethylase 4C		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	135.0	122.0	126.0		1517,1583,1517,1517	3.0	0.0	9		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KDM4C	NM_015061.3,NM_001146696.1,NM_001146695.1,NM_001146694.1	145,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	506/1057,528/836,506/814,506/1048	6986506	1,13005	2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6986506C>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1517C>T	9.37:g.6986506C>T	ENSP00000370710:p.Ser506Leu					KDM4C_ENST00000535193.1_Missense_Mutation_p.S528L|KDM4C_ENST00000381306.3_Missense_Mutation_p.S506L|KDM4C_ENST00000536108.1_Missense_Mutation_p.S325L|KDM4C_ENST00000543771.1_Missense_Mutation_p.S506L|KDM4C_ENST00000428870.2_Missense_Mutation_p.S193L|KDM4C_ENST00000442236.2_Missense_Mutation_p.S325L	p.S506L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			11	2082	+			506					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.1517C>T	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.766006	0.31228	0.0	1.16E-4	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.3	3.03	0.35002	.	1.583900	0.03358	N	0.197133	T	0.26376	0.0644	N	0.02275	-0.615	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.0;0.001	T	0.19976	-1.0289	10	0.31617	T	0.26	-10.1277	8.527	0.33311	0.0:0.7901:0.0:0.2099	.	325;506;528;506;506	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	L	528;506;506;506;325;325;193	ENSP00000442382:S528L;ENSP00000445427:S506L;ENSP00000370710:S506L;ENSP00000370707:S506L;ENSP00000409353:S325L;ENSP00000440656:S325L;ENSP00000405739:S193L	ENSP00000370707:S506L	S	+	2	0	KDM4C	6976506	0.068000	0.21057	0.016000	0.15963	0.109000	0.19521	0.869000	0.27996	0.539000	0.28788	0.655000	0.94253	TCA		0.478	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		27	31	0	0	0	1	0	27	31				
CYP7A1	1581	broad.mit.edu	37	8	59409370	59409370	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:59409370G>T	ENST00000301645.3	-	3	838	c.701C>A	c.(700-702)gCc>gAc	p.A234D		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	234					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTTCTCCCGGGCATTGTGCGC	0.488									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(700-702)gCc>gAc		cytochrome P450, family 7, subfamily A, polypeptide 1							159.0	160.0	160.0					8																	59409370		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409370G>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.701C>A	8.37:g.59409370G>T	ENSP00000301645:p.Ala234Asp						p.A234D	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			3	838	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	234					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.701C>A	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580782	0.65992	.	.	ENSG00000167910	ENST00000301645	T	0.73152	-0.72	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.85731	0.1331	10	0.72032	D	0.01	-19.0119	20.2982	0.98569	0.0:0.0:1.0:0.0	.	234	P22680	CP7A1_HUMAN	D	234	ENSP00000301645:A234D	ENSP00000301645:A234D	A	-	2	0	CYP7A1	59571924	1.000000	0.71417	0.962000	0.40283	0.005000	0.04900	9.702000	0.98712	2.873000	0.98535	0.563000	0.77884	GCC		0.488	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		33	103	1	0	2.85442e-18	1	3.58766e-18	33	103				
BRINP3	339479	broad.mit.edu	37	1	190067951	190067951	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:190067951G>T	ENST00000367462.3	-	8	1729	c.1498C>A	c.(1498-1500)Ctg>Atg	p.L500M	BRINP3_ENST00000534846.1_Missense_Mutation_p.L398M	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	500					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TTCTGCAGCAGATATTTCATC	0.493																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1498-1500)Ctg>Atg									160.0	157.0	158.0					1																	190067951		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067951G>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1498C>A	1.37:g.190067951G>T	ENSP00000356432:p.Leu500Met					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L398M	p.L500M	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1729	-	Prostate(682;0.198)		500					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1498C>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837770	0.50951	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.57595	0.39;0.39	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000002	T	0.70168	0.3193	M	0.74881	2.28	0.51233	D	0.999918	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.99	T	0.72481	-0.4280	10	0.66056	D	0.02	.	10.8116	0.46551	0.0853:0.0:0.9147:0.0	.	398;500	B7Z260;Q76B58	.;FAM5C_HUMAN	M	500;398	ENSP00000356432:L500M;ENSP00000438022:L398M	ENSP00000356432:L500M	L	-	1	2	FAM5C	188334574	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.878000	0.56130	2.712000	0.92718	0.591000	0.81541	CTG		0.493	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		29	112	1	0	2.4375e-19	1	3.09201e-19	29	112				
POMC	5443	broad.mit.edu	37	2	25387568	25387568	+	Missense_Mutation	SNP	C	C	A	rs143923583	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:25387568C>A	ENST00000405623.1	-	2	529	c.74G>T	c.(73-75)cGt>cTt	p.R25L	POMC_ENST00000264708.3_Missense_Mutation_p.R25L|POMC_ENST00000395826.2_Missense_Mutation_p.R25L|POMC_ENST00000380794.1_Missense_Mutation_p.R25L			P01189	COLI_HUMAN	proopiomelanocortin	25					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GCACCAGCCACGCACTTCCAT	0.612																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(73-75)cGt>cTt		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						64.0	63.0	63.0					2																	25387568		2203	4300	6503	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25387568C>A		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.74G>T	2.37:g.25387568C>A	ENSP00000384092:p.Arg25Leu					POMC_ENST00000264708.3_Missense_Mutation_p.R25L|POMC_ENST00000395826.2_Missense_Mutation_p.R25L|POMC_ENST00000380794.1_Missense_Mutation_p.R25L	p.R25L			P01189	COLI_HUMAN			2	529	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		25					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.74G>T	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911494	0.52439	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.2	5.34	2.05	0.26809	.	0.807392	0.11790	N	0.529289	T	0.64159	0.2573	L	0.46157	1.445	0.22954	N	0.998519	B	0.31077	0.307	B	0.21151	0.033	T	0.45818	-0.9235	10	0.13853	T	0.58	-15.0005	7.6569	0.28381	0.0:0.607:0.0:0.393	.	25	P01189	COLI_HUMAN	L	25	ENSP00000370171:R25L;ENSP00000384092:R25L;ENSP00000264708:R25L;ENSP00000379170:R25L;ENSP00000387993:R25L	ENSP00000264708:R25L	R	-	2	0	POMC	25241072	0.000000	0.05858	0.984000	0.44739	0.994000	0.84299	-0.038000	0.12144	0.740000	0.32651	0.462000	0.41574	CGT		0.612	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		26	60	1	0	7.92952e-12	1	9.36504e-12	26	60				
ZNF98	148198	broad.mit.edu	37	19	22574948	22574948	+	Silent	SNP	G	G	T	rs200579498	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:22574948G>T	ENST00000357774.5	-	4	1210	c.1089C>A	c.(1087-1089)tcC>tcA	p.S363S		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAGTAAGGTGGGATAACCGGC	0.388																																						ENST00000357774.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1087-1089)tcC>tcA		zinc finger protein 98							31.0	31.0	31.0					19																	22574948		2132	4254	6386	SO:0001819	synonymous_variant	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574948G>T		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1089C>A	19.37:g.22574948G>T							p.S363S	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN			4	1210	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	363						Silent	SNP	ENST00000357774.5	37	c.1089C>A	CCDS46031.1																																																																																				0.388	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		4	57	1	0	1	1	1	4	57				
FAM53B	9679	broad.mit.edu	37	10	126370453	126370453	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:126370453G>C	ENST00000337318.3	-	4	840	c.629C>G	c.(628-630)aCc>aGc	p.T210S	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.T210S|FAM53B_ENST00000392754.3_Missense_Mutation_p.T210S	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	210										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGGCTCCAGGTGTCACCTGC	0.642																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(628-630)aCc>aGc		family with sequence similarity 53, member B							24.0	25.0	24.0					10																	126370453		2202	4298	6500	SO:0001583	missense	9679							g.chr10:126370453G>C	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.629C>G	10.37:g.126370453G>C	ENSP00000338532:p.Thr210Ser					FAM53B_ENST00000392754.3_Missense_Mutation_p.T210S|FAM53B_ENST00000280780.6_Missense_Mutation_p.T210S|RP11-12J10.3_ENST00000494792.1_3'UTR	p.T210S	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	4	840	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	210					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.629C>G	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.510845	0.00153	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.38887	1.11;1.11;1.11	4.24	-1.94	0.07571	.	1.483400	0.03376	N	0.199700	T	0.11024	0.0269	N	0.00841	-1.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.28106	-1.0054	10	0.02654	T	1	-16.8236	1.8051	0.03079	0.2115:0.1335:0.4052:0.2497	.	210;210;210	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	S	210	ENSP00000338532:T210S;ENSP00000376509:T210S;ENSP00000280780:T210S	ENSP00000280780:T210S	T	-	2	0	FAM53B	126360443	0.000000	0.05858	0.004000	0.12327	0.163000	0.22366	-0.425000	0.07017	-0.335000	0.08451	0.655000	0.94253	ACC		0.642	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		3	15	0	0	0	1	0	3	15				
B3GNT2	10678	broad.mit.edu	37	2	62450518	62450518	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:62450518C>G	ENST00000301998.4	+	2	1415	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C	B3GNT2_ENST00000405767.1_Missense_Mutation_p.S388C	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	388					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GATATTTGGTCTCAGTTGCAG	0.323																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(1162-1164)tCt>tGt		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							43.0	46.0	45.0					2																	62450518		2201	4299	6500	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62450518C>G	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.1163C>G	2.37:g.62450518C>G	ENSP00000305595:p.Ser388Cys					B3GNT2_ENST00000405767.1_Missense_Mutation_p.S388C	p.S388C	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	1415	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		388					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.1163C>G	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137908	0.56936	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.28069	1.63;1.63	5.54	5.54	0.83059	.	0.279890	0.41712	D	0.000835	T	0.44052	0.1275	L	0.59436	1.845	0.40318	D	0.978791	D	0.61080	0.989	P	0.50082	0.63	T	0.43782	-0.9370	10	0.66056	D	0.02	.	19.4986	0.95083	0.0:1.0:0.0:0.0	.	388	Q9NY97	B3GN2_HUMAN	C	388	ENSP00000305595:S388C;ENSP00000384692:S388C	ENSP00000305595:S388C	S	+	2	0	B3GNT2	62304022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.573000	0.53856	2.598000	0.87819	0.650000	0.86243	TCT		0.323	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		7	37	0	0	0	1	0	7	37				
SCMH1	22955	broad.mit.edu	37	1	41514424	41514424	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:41514424G>A	ENST00000326197.7	-	10	1513	c.1214C>T	c.(1213-1215)gCt>gTt	p.A405V	SCMH1_ENST00000397171.2_Missense_Mutation_p.A344V|SCMH1_ENST00000337495.5_Missense_Mutation_p.A415V|SCMH1_ENST00000372595.1_Missense_Mutation_p.A344V|SCMH1_ENST00000361705.3_Missense_Mutation_p.A358V|SCMH1_ENST00000397174.2_Missense_Mutation_p.A385V|SCMH1_ENST00000402904.2_Missense_Mutation_p.A405V|SCMH1_ENST00000372597.1_Missense_Mutation_p.A358V|SCMH1_ENST00000372596.1_Missense_Mutation_p.A344V|SCMH1_ENST00000456518.2_Missense_Mutation_p.A247V|SCMH1_ENST00000361191.5_Missense_Mutation_p.A344V					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CTGGTGATAAGCACAGTCGAT	0.522																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1213-1215)gCt>gTt		sex comb on midleg homolog 1 (Drosophila)							213.0	186.0	195.0					1																	41514424		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41514424G>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1214C>T	1.37:g.41514424G>A	ENSP00000318094:p.Ala405Val					SCMH1_ENST00000372597.1_Missense_Mutation_p.A358V|SCMH1_ENST00000337495.5_Missense_Mutation_p.A415V|SCMH1_ENST00000326197.7_Missense_Mutation_p.A405V|SCMH1_ENST00000372595.1_Missense_Mutation_p.A344V|SCMH1_ENST00000361705.3_Missense_Mutation_p.A358V|SCMH1_ENST00000361191.5_Missense_Mutation_p.A344V|SCMH1_ENST00000397174.2_Missense_Mutation_p.A385V|SCMH1_ENST00000456518.2_Missense_Mutation_p.A247V|SCMH1_ENST00000397171.2_Missense_Mutation_p.A344V|SCMH1_ENST00000372596.1_Missense_Mutation_p.A344V	p.A405V	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			11	1582	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	405						Missense_Mutation	SNP	ENST00000326197.7	37	c.1214C>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768354	0.90020	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	6.07	6.07	0.98685	.	0.067529	0.64402	D	0.000015	T	0.70710	0.3255	M	0.70595	2.14	0.80722	D	1	D;D;P;P	0.67145	0.996;0.986;0.86;0.954	D;P;B;P	0.63381	0.914;0.73;0.269;0.904	T	0.66618	-0.5878	10	0.37606	T	0.19	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	247;415;358;405	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	V	358;247;405;385;344;344;358;344;415;344;405	ENSP00000354996:A358V;ENSP00000403974:A247V;ENSP00000386079:A405V;ENSP00000380359:A385V;ENSP00000380356:A344V;ENSP00000354656:A344V;ENSP00000361678:A358V;ENSP00000361677:A344V;ENSP00000337352:A415V;ENSP00000361676:A344V;ENSP00000318094:A405V	ENSP00000318094:A405V	A	-	2	0	SCMH1	41287011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.885000	0.99019	0.655000	0.94253	GCT		0.522	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			58	67	0	0	0	1	0	58	67				
ERBB3	2065	broad.mit.edu	37	12	56481413	56481413	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:56481413A>T	ENST00000267101.3	+	5	1040	c.600A>T	c.(598-600)gaA>gaT	p.E200D	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.E141D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	200					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTGGATCAGAAGACTGCCAGA	0.552																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(598-600)gaA>gaT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							120.0	115.0	117.0					12																	56481413		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481413A>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.600A>T	12.37:g.56481413A>T	ENSP00000267101:p.Glu200Asp					ERBB3_ENST00000415288.2_Missense_Mutation_p.E141D|ERBB3_ENST00000450146.2_Intron	p.E200D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		5	1040	+			200					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.600A>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	7.367	0.626015	0.14257	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.81996	-1.56;-1.56	5.93	-0.611	0.11601	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.351915	0.27572	N	0.018775	T	0.53302	0.1788	N	0.02775	-0.495	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	10	0.12103	T	0.63	.	4.8676	0.13616	0.4323:0.2677:0.3:0.0	.	200	P21860	ERBB3_HUMAN	D	200;200;141	ENSP00000267101:E200D;ENSP00000408340:E141D	ENSP00000267101:E200D	E	+	3	2	ERBB3	54767680	0.984000	0.35163	0.997000	0.53966	0.995000	0.86356	0.163000	0.16520	-0.104000	0.12154	0.533000	0.62120	GAA		0.552	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			18	59	0	0	0	1	0	18	59				
SPAG17	200162	broad.mit.edu	37	1	118584559	118584559	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:118584559T>C	ENST00000336338.5	-	21	2986	c.2921A>G	c.(2920-2922)aAc>aGc	p.N974S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	974						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCTCTGCGTTATCCTTGCC	0.393																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2920-2922)aAc>aGc		sperm associated antigen 17							374.0	372.0	373.0					1																	118584559		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118584559T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2921A>G	1.37:g.118584559T>C	ENSP00000337804:p.Asn974Ser						p.N974S	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	21	2986	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	974					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2921A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	3.411	-0.120237	0.06838	.	.	ENSG00000155761	ENST00000336338	T	0.29142	1.58	5.36	1.34	0.21922	.	0.691120	0.13558	N	0.379021	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.43491	-0.9388	10	0.17832	T	0.49	.	3.0515	0.06171	0.1282:0.0763:0.2643:0.5311	.	974	Q6Q759	SPG17_HUMAN	S	974	ENSP00000337804:N974S	ENSP00000337804:N974S	N	-	2	0	SPAG17	118386082	0.104000	0.21937	0.006000	0.13384	0.076000	0.17211	0.857000	0.27831	0.384000	0.24942	0.528000	0.53228	AAC		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		95	205	0	0	0	1	0	95	205				
LRP1B	53353	broad.mit.edu	37	2	140990803	140990803	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:140990803T>A	ENST00000389484.3	-	91	14723	c.13752A>T	c.(13750-13752)gaA>gaT	p.E4584D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4584					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGGAAGCAGTTCTTTCCTTT	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(13750-13752)gaA>gaT		low density lipoprotein receptor-related protein 1B							104.0	107.0	106.0					2																	140990803		2201	4299	6500	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990803T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13752A>T	2.37:g.140990803T>A	ENSP00000374135:p.Glu4584Asp	TSP Lung(27;0.18)					p.E4584D	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	91	14723	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4584					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13752A>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.99|14.99	2.698904|2.698904	0.48307|0.48307	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.50813|.	0.73|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|T	0.64349|0.64349	0.2590|0.2590	L|L	0.49455|0.49455	1.56|1.56	0.39450|0.39450	D|D	0.967385|0.967385	D|.	0.69078|.	0.997|.	D|.	0.72625|.	0.978|.	T|T	0.63519|0.63519	-0.6619|-0.6619	10|5	0.48119|.	T|.	0.1|.	.|.	15.9456|15.9456	0.79789|0.79789	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4584|.	Q9NZR2|.	LRP1B_HUMAN|.	D|I	4584;4522|783	ENSP00000374135:E4584D|.	ENSP00000374135:E4584D|.	E|N	-|-	3|2	2|0	LRP1B|LRP1B	140707273|140707273	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.821000|5.821000	0.69257|0.69257	2.167000|2.167000	0.68274|0.68274	0.477000|0.477000	0.44152|0.44152	GAA|AAC		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	49	0	0	0	1	0	5	49				
DNAH3	55567	broad.mit.edu	37	16	21078616	21078616	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:21078616A>G	ENST00000261383.3	-	24	3505	c.3506T>C	c.(3505-3507)cTa>cCa	p.L1169P	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1169P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1169	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGAAGAATAGTCTCTTCTT	0.438																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3505-3507)cTa>cCa		dynein, axonemal, heavy chain 3							83.0	84.0	84.0					16																	21078616		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21078616A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3506T>C	16.37:g.21078616A>G	ENSP00000261383:p.Leu1169Pro					DNAH3_ENST00000415178.1_Missense_Mutation_p.L1169P	p.L1169P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	24	3505	-			1169			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3506T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469201	0.63625	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61510	0.1;0.1	5.64	5.64	0.86602	Dynein heavy chain, domain-2 (1);	0.196730	0.32093	N	0.006599	T	0.74726	0.3754	H	0.96430	3.82	0.80722	D	1	B	0.27791	0.189	B	0.35278	0.199	T	0.78723	-0.2093	10	0.72032	D	0.01	.	15.8642	0.79052	1.0:0.0:0.0:0.0	.	1169	Q8TD57	DYH3_HUMAN	P	1169	ENSP00000261383:L1169P;ENSP00000394245:L1169P	ENSP00000261383:L1169P	L	-	2	0	DNAH3	20986117	1.000000	0.71417	0.952000	0.39060	0.996000	0.88848	8.979000	0.93455	2.145000	0.66743	0.519000	0.50382	CTA		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		18	27	0	0	0	1	0	18	27				
TRAPPC11	60684	broad.mit.edu	37	4	184626159	184626159	+	Silent	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:184626159C>A	ENST00000334690.6	+	27	3193	c.2991C>A	c.(2989-2991)atC>atA	p.I997I	TRAPPC11_ENST00000512476.1_Silent_p.I603I|RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000357207.4_Silent_p.I997I	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	997					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											ATATCCCCATCATCACAACTG	0.393																																						ENST00000334690.6																			0											c.(2989-2991)atC>atA		trafficking protein particle complex 11							182.0	170.0	174.0					4																	184626159		2203	4300	6503	SO:0001819	synonymous_variant	60684							g.chr4:184626159C>A		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2991C>A	4.37:g.184626159C>A						TRAPPC11_ENST00000357207.4_Silent_p.I997I|TRAPPC11_ENST00000512476.1_Silent_p.I603I	p.I997I	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			27	3193	+			997					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.2991C>A	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	C	1.134	-0.651678	0.03506	.	.	ENSG00000168538	ENST00000360109	.	.	.	4.94	4.03	0.46877	.	.	.	.	.	T	0.37652	0.1011	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18903	-1.0322	5	0.15066	T	0.55	.	3.5873	0.07975	0.0:0.5524:0.2332:0.2144	.	.	.	.	N	978	.	ENSP00000353223:H978N	H	+	1	0	C4orf41	184863153	0.555000	0.26530	0.843000	0.33291	0.083000	0.17756	-0.158000	0.10070	2.295000	0.77249	0.563000	0.77884	CAT		0.393	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		40	86	1	0	2.35958e-20	1	3.02115e-20	40	86				
PCDH8	5100	broad.mit.edu	37	13	53421763	53421763	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:53421763G>C	ENST00000377942.3	-	1	1012	c.809C>G	c.(808-810)gCa>gGa	p.A270G	PCDH8_ENST00000338862.4_Missense_Mutation_p.A270G	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	270	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGGGTCGGCTGCGTCCAGGTC	0.711																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(808-810)gCa>gGa		protocadherin 8							6.0	6.0	6.0					13																	53421763		1967	3950	5917	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421763G>C	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.809C>G	13.37:g.53421763G>C	ENSP00000367177:p.Ala270Gly					PCDH8_ENST00000338862.4_Missense_Mutation_p.A270G	p.A270G	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1012	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	270			Cadherin 3.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.809C>G	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535329	0.64972	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.61859	0.07;0.07	4.37	4.37	0.52481	Cadherin (5);Cadherin-like (1);	0.000000	0.43919	D	0.000517	D	0.84692	0.5528	H	0.98089	4.145	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.90845	0.4726	10	0.87932	D	0	.	16.0978	0.81139	0.0:0.0:1.0:0.0	.	270;270	O95206-2;O95206	.;PCDH8_HUMAN	G	270	ENSP00000367177:A270G;ENSP00000341350:A270G	ENSP00000341350:A270G	A	-	2	0	PCDH8	52319764	1.000000	0.71417	0.991000	0.47740	0.319000	0.28217	7.408000	0.80041	2.268000	0.75426	0.462000	0.41574	GCA		0.711	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		4	4	0	0	0	1	0	4	4				
UPK1B	7348	broad.mit.edu	37	3	118905597	118905597	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:118905597A>T	ENST00000264234.3	+	2	158	c.9A>T	c.(7-9)aaA>aaT	p.K3N	RP11-484M3.5_ENST00000490594.1_Intron|UPK1B_ENST00000460625.1_Missense_Mutation_p.K3N|UPK1B_ENST00000497685.1_Intron	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	3					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		AGATGGCCAAAGACAACTCAA	0.418																																						ENST00000264234.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14						c.(7-9)aaA>aaT		uroplakin 1B							167.0	152.0	157.0					3																	118905597		2203	4300	6503	SO:0001583	missense	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118905597A>T	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.9A>T	3.37:g.118905597A>T	ENSP00000264234:p.Lys3Asn					UPK1B_ENST00000460625.1_Missense_Mutation_p.K3N|RP11-484M3.5_ENST00000490594.1_Intron|UPK1B_ENST00000497685.1_Intron	p.K3N	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	2	158	+			3					O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	c.9A>T	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089011	0.76756	.	.	ENSG00000114638	ENST00000264234;ENST00000479520;ENST00000494855;ENST00000460625	T;T;T;T	0.14144	3.03;2.53;2.86;3.18	5.5	-0.809	0.10864	.	0.071433	0.64402	D	0.000020	T	0.21103	0.0508	L	0.40543	1.245	0.39702	D	0.971208	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.981	T	0.01743	-1.1283	10	0.27785	T	0.31	-7.0041	10.22	0.43192	0.5532:0.0:0.4468:0.0	.	3;3	C9J9M7;O75841	.;UPK1B_HUMAN	N	3	ENSP00000264234:K3N;ENSP00000418399:K3N;ENSP00000418597:K3N;ENSP00000418116:K3N	ENSP00000264234:K3N	K	+	3	2	UPK1B	120388287	0.999000	0.42202	0.998000	0.56505	0.967000	0.64934	0.578000	0.23773	0.072000	0.16694	0.455000	0.32223	AAA		0.418	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2			27	29	0	0	0	1	0	27	29				
ADAMTS10	81794	broad.mit.edu	37	19	8651317	8651317	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:8651317C>T	ENST00000597188.1	-	21	2711	c.2441G>A	c.(2440-2442)cGc>cAc	p.R814H	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.R814H|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R301H	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	814	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCATTGAAGCGGTAGCGGAG	0.667											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(2440-2442)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 10							22.0	26.0	25.0					19																	8651317		2202	4299	6501	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8651317C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2441G>A	19.37:g.8651317C>T	ENSP00000471851:p.Arg814His		OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.R301H|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R814H	p.R814H			Q9H324	ATS10_HUMAN			20	2707	-			814			Spacer.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.2441G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624266	0.66901	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.52295	0.67	4.6	4.6	0.57074	ADAM-TS Spacer 1 (1);	0.164580	0.34986	U	0.003539	T	0.58278	0.2111	L	0.54323	1.7	0.46011	D	0.998813	D;D;D	0.89917	0.996;0.997;1.0	P;D;D	0.73380	0.803;0.938;0.98	T	0.60541	-0.7243	10	0.62326	D	0.03	.	6.7352	0.23405	0.0:0.7958:0.0:0.2042	.	568;814;301	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	H	814;568	ENSP00000270328:R814H	ENSP00000270328:R814H	R	-	2	0	ADAMTS10	8557317	0.998000	0.40836	1.000000	0.80357	0.585000	0.36419	2.824000	0.48088	2.107000	0.64212	0.561000	0.74099	CGC		0.667	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		4	20	0	0	0	1	0	4	20				
TRPM7	54822	broad.mit.edu	37	15	50935734	50935734	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:50935734T>C	ENST00000313478.7	-	5	619	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y113C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	113					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TTTGGTGTCATATGATAGCCT	0.338																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(337-339)tAt>tGt		transient receptor potential cation channel, subfamily M, member 7							84.0	76.0	78.0					15																	50935734		1834	4088	5922	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50935734T>C	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.338A>G	15.37:g.50935734T>C	ENSP00000320239:p.Tyr113Cys					TRPM7_ENST00000560955.1_Missense_Mutation_p.Y113C	p.Y113C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	5	619	-			113					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.338A>G	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696059	0.48202	.	.	ENSG00000092439	ENST00000313478	T	0.61980	0.06	5.1	5.1	0.69264	.	0.065468	0.64402	D	0.000006	T	0.64327	0.2588	L	0.40543	1.245	0.58432	D	0.999998	D	0.65815	0.995	P	0.52514	0.701	T	0.66952	-0.5793	10	0.52906	T	0.07	-19.6299	15.0446	0.71816	0.0:0.0:0.0:1.0	.	113	Q96QT4	TRPM7_HUMAN	C	113	ENSP00000320239:Y113C	ENSP00000320239:Y113C	Y	-	2	0	TRPM7	48723026	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.825000	0.86693	2.127000	0.65507	0.528000	0.53228	TAT		0.338	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		16	63	0	0	0	1	0	16	63				
EDN3	1908	broad.mit.edu	37	20	57897498	57897498	+	Intron	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr20:57897498G>C	ENST00000337938.2	+	4	974				EDN3_ENST00000395654.3_Intron|EDN3_ENST00000311585.7_Missense_Mutation_p.C205S|EDN3_ENST00000371028.2_Intron|EDN3_ENST00000371025.3_Intron	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3						blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					AGAGGCCTGTGTCAAAGGAGG	0.517																																						ENST00000311585.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.(613-615)tGt>tCt		endothelin 3							186.0	165.0	173.0					20																	57897498		2203	4300	6503	SO:0001627	intron_variant	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57897498G>C	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.588+26G>C	20.37:g.57897498G>C						EDN3_ENST00000371028.2_Intron|EDN3_ENST00000337938.2_Intron|EDN3_ENST00000395654.3_Intron|EDN3_ENST00000371025.3_Intron	p.C205S	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN			4	984	+	all_lung(29;0.0115)		0					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.614G>C	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	G	1.434	-0.569574	0.03910	.	.	ENSG00000124205	ENST00000311585	D	0.90004	-2.6	4.04	-0.28	0.12886	.	.	.	.	.	T	0.76421	0.3985	.	.	.	0.09310	N	1	B	0.19073	0.033	B	0.15484	0.013	T	0.59611	-0.7422	7	.	.	.	.	3.4871	0.07624	0.3395:0.197:0.4635:0.0	.	205	Q7Z6D2	.	S	205	ENSP00000311854:C205S	.	C	+	2	0	EDN3	57330893	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	-0.338000	0.07842	0.113000	0.18004	0.655000	0.94253	TGT		0.517	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		13	32	0	0	0	1	0	13	32				
IRX1	79192	broad.mit.edu	37	5	3601102	3601102	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:3601102T>C	ENST00000302006.3	+	4	1443	c.1391T>C	c.(1390-1392)cTg>cCg	p.L464P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	464					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAGCTCTCTGGCCCCGCAG	0.662																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1390-1392)cTg>cCg		iroquois homeobox 1							49.0	53.0	52.0					5																	3601102		2202	4300	6502	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3601102T>C	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1391T>C	5.37:g.3601102T>C	ENSP00000305244:p.Leu464Pro						p.L464P	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			4	1443	+			464					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1391T>C	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144148	0.37825	.	.	ENSG00000170549	ENST00000302006	T	0.59364	0.27	4.77	3.61	0.41365	.	0.543707	0.17184	U	0.183776	T	0.61640	0.2363	L	0.51422	1.61	0.58432	D	0.999995	D	0.61697	0.99	P	0.54664	0.758	T	0.58346	-0.7652	10	0.46703	T	0.11	.	10.0673	0.42311	0.0:0.0799:0.0:0.9201	.	464	P78414	IRX1_HUMAN	P	464	ENSP00000305244:L464P	ENSP00000305244:L464P	L	+	2	0	IRX1	3654102	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	4.362000	0.59467	0.686000	0.31488	0.533000	0.62120	CTG		0.662	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		14	44	0	0	0	1	0	14	44				
ZNF98	148198	broad.mit.edu	37	19	22574951	22574951	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:22574951T>G	ENST00000357774.5	-	4	1207	c.1086A>C	c.(1084-1086)ttA>ttC	p.L362F		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TAAGGTGGGATAACCGGCTAA	0.393																																						ENST00000357774.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1084-1086)ttA>ttC		zinc finger protein 98							33.0	33.0	33.0					19																	22574951		2136	4256	6392	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574951T>G		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1086A>C	19.37:g.22574951T>G	ENSP00000350418:p.Leu362Phe						p.L362F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN			4	1207	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	362						Missense_Mutation	SNP	ENST00000357774.5	37	c.1086A>C	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.286210	0.00251	.	.	ENSG00000197360	ENST00000357774	T	0.07800	3.16	1.28	-2.56	0.06268	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03434	0.0099	N	0.13371	0.34	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42344	-0.9457	9	0.23302	T	0.38	.	0.3031	0.00276	0.2655:0.1496:0.2807:0.3041	.	362	A6NK75	ZNF98_HUMAN	F	362	ENSP00000350418:L362F	ENSP00000350418:L362F	L	-	3	2	ZNF98	22366791	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-6.638000	0.00058	-1.953000	0.01026	-0.780000	0.03373	TTA		0.393	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		4	64	0	0	0	1	0	4	64				
CSMD1	64478	broad.mit.edu	37	8	2832027	2832027	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:2832027T>C	ENST00000520002.1	-	57	9244	c.8689A>G	c.(8689-8691)Acg>Gcg	p.T2897A	CSMD1_ENST00000400186.3_Missense_Mutation_p.T2839A|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2838A|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2897A|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2896A|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2839A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2897	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACACTCTCGTGTCGTTGCCT	0.572																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(8689-8691)Acg>Gcg		CUB and Sushi multiple domains 1							51.0	54.0	53.0					8																	2832027		2023	4179	6202	SO:0001583	missense	64478					integral to membrane		g.chr8:2832027T>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8689A>G	8.37:g.2832027T>C	ENSP00000430733:p.Thr2897Ala					CSMD1_ENST00000602723.1_Missense_Mutation_p.T2839A|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2839A|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2838A|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2896A|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2897A	p.T2897A			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	57	9244	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2897			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8689A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.74|11.74	1.727656|1.727656	0.30593|0.30593	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.65916	.|-0.18;-0.18;-0.18;-0.18	5.66|5.66	3.26|3.26	0.37387|0.37387	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.063991	.|0.64402	.|D	.|0.000009	T|T	0.62097|0.62097	0.2400|0.2400	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|B;B;P	.|0.36378	.|0.065;0.291;0.55	.|B;B;B	.|0.41666	.|0.089;0.363;0.358	T|T	0.54337|0.54337	-0.8309|-0.8309	5|10	.|0.23891	.|T	.|0.37	.|.	7.6661|7.6661	0.28432|0.28432	0.1254:0.0678:0.0:0.8068|0.1254:0.0678:0.0:0.8068	.|.	.|2897;2897;2838	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	R|A	2313|2839;2897;2758;2896;2838	.|ENSP00000383047:T2839A;ENSP00000430733:T2897A;ENSP00000441462:T2896A;ENSP00000446243:T2838A	.|ENSP00000320445:T2758A	H|T	-|-	2|1	0|0	CSMD1|CSMD1	2819434|2819434	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	4.954000|4.954000	0.63631|0.63631	0.411000|0.411000	0.25702|0.25702	-1.140000|-1.140000	0.01884|0.01884	CAC|ACG		0.572	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	8	0	0	0	1	0	8	8				
KLKB1	3818	broad.mit.edu	37	4	187179174	187179174	+	Splice_Site	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:187179174G>T	ENST00000264690.6	+	15	1912		c.e15-1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CTGTGACTCAGGGAGATTCAG	0.478																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.e15-1		kallikrein B, plasma (Fletcher factor) 1							81.0	80.0	80.0					4																	187179174		2203	4300	6503	SO:0001630	splice_region_variant	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187179174G>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1726-1G>T	4.37:g.187179174G>T						KLKB1_ENST00000513864.1_Splice_Site		NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	15	1912	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)						A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Splice_Site	SNP	ENST00000264690.6	37		CCDS34120.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556277	0.45487	.	.	ENSG00000164344	ENST00000511608;ENST00000264690;ENST00000513864;ENST00000418715	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLKB1	187416168	1.000000	0.71417	1.000000	0.80357	0.095000	0.18619	9.864000	0.99589	2.802000	0.96397	0.563000	0.77884	.		0.478	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	Intron	22	44	1	0	2.98393e-07	1	3.27039e-07	22	44				
ZNF404	342908	broad.mit.edu	37	19	44377455	44377455	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:44377455C>T	ENST00000587539.1	-	3	910	c.911G>A	c.(910-912)tGt>tAt	p.C304Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.C302Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GGCCTTTTCACATTGTTCACA	0.368																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(910-912)tGt>tAt		zinc finger protein 404							40.0	43.0	42.0					19																	44377455		2045	4210	6255	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377455C>T	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.911G>A	19.37:g.44377455C>T	ENSP00000466051:p.Cys304Tyr					ZNF404_ENST00000324394.6_Missense_Mutation_p.C302Y	p.C304Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	910	-		Prostate(69;0.0352)	304					A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.911G>A	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969386	0.34754	.	.	ENSG00000176222	ENST00000324394	D	0.85861	-2.04	2.01	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93779	0.8011	H	0.95224	3.64	0.35333	D	0.78581	D	0.89917	1.0	D	0.97110	1.0	D	0.95984	0.8980	9	0.87932	D	0	.	11.7259	0.51710	0.0:1.0:0.0:0.0	.	304	Q494X3	ZN404_HUMAN	Y	302	ENSP00000319479:C302Y	ENSP00000319479:C302Y	C	-	2	0	ZNF404	49069295	1.000000	0.71417	0.997000	0.53966	0.296000	0.27459	6.533000	0.73829	1.421000	0.47157	0.404000	0.27445	TGT		0.368	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		17	22	0	0	0	1	0	17	22				
SLITRK5	26050	broad.mit.edu	37	13	88328847	88328847	+	Missense_Mutation	SNP	G	G	T	rs369443848		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr13:88328847G>T	ENST00000325089.6	+	2	1423	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A161S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	402	LRRNT.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGAGAGCATCGCTGAACTGCA	0.567																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1204-1206)Gct>Tct		SLIT and NTRK-like family, member 5							92.0	76.0	82.0					13																	88328847		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328847G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1204G>T	13.37:g.88328847G>T	ENSP00000366283:p.Ala402Ser					SLITRK5_ENST00000400028.3_Missense_Mutation_p.A161S	p.A402S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1423	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		402			LRRNT.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1204G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	0.801	-0.755261	0.03019	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.26223	1.75;1.75	5.75	4.82	0.62117	Leucine-rich repeat-containing N-terminal (1);	0.060511	0.64402	D	0.000002	T	0.06508	0.0167	N	0.00465	-1.465	0.36491	D	0.868437	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.32375	-0.9909	9	.	.	.	-8.5884	10.6191	0.45470	0.0:0.0:0.6877:0.3123	.	161;402	B4DSH5;O94991	.;SLIK5_HUMAN	S	402;161	ENSP00000366283:A402S;ENSP00000442244:A161S	.	A	+	1	0	SLITRK5	87126848	1.000000	0.71417	0.708000	0.30435	0.945000	0.59286	3.900000	0.56295	2.714000	0.92807	0.561000	0.74099	GCT		0.567	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			18	19	1	0	1.67942e-08	1	1.8859e-08	18	19				
PCDHA3	56145	broad.mit.edu	37	5	140182317	140182317	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:140182317C>A	ENST00000522353.2	+	1	1535	c.1535C>A	c.(1534-1536)gCg>gAg	p.A512E	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512E|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTACACGCGGAGAGCGGC	0.706																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1534-1536)gCg>gAg									76.0	78.0	77.0					5																	140182317		2203	4299	6502	SO:0001583	missense	56145							g.chr5:140182317C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1535C>A	5.37:g.140182317C>A	ENSP00000429808:p.Ala512Glu					PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A512E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	p.A512E	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1535	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1535C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	18.39	3.614454	0.66672	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.50277	0.75;0.75	4.75	3.86	0.44501	Cadherin (4);Cadherin-like (1);	0.183399	0.25355	U	0.031265	T	0.49508	0.1561	N	0.12502	0.225	0.24245	N	0.995348	D;D	0.71674	0.998;0.994	D;D	0.67725	0.953;0.918	T	0.51702	-0.8672	10	0.66056	D	0.02	.	15.1255	0.72481	0.0:0.8576:0.1424:0.0	.	512;512	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	E	512	ENSP00000429808:A512E;ENSP00000434086:A512E	ENSP00000429808:A512E	A	+	2	0	PCDHA3	140162501	0.000000	0.05858	1.000000	0.80357	0.881000	0.50899	1.074000	0.30703	1.104000	0.41587	0.461000	0.40582	GCG		0.706	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		38	50	1	0	1.06647e-15	1	1.30452e-15	38	50				
ARMC9	80210	broad.mit.edu	37	2	232079577	232079577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:232079577C>T	ENST00000349938.4	+	4	405	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	71						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CAACGGAGACCAGAAGGTGTT	0.463																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(211-213)Cag>Tag		armadillo repeat containing 9							144.0	128.0	134.0					2																	232079577		2203	4300	6503	SO:0001587	stop_gained	80210						binding	g.chr2:232079577C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.211C>T	2.37:g.232079577C>T	ENSP00000258417:p.Gln71*					ARMC9_ENST00000483477.1_3'UTR	p.Q71*	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	4	405	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	71					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Nonsense_Mutation	SNP	ENST00000349938.4	37	c.211C>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	37	6.254714	0.97417	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000440107	.	.	.	5.81	5.81	0.92471	.	0.445354	0.24808	N	0.035435	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-25.9816	14.8547	0.70326	0.1437:0.8563:0.0:0.0	.	.	.	.	X	71	.	ENSP00000258417:Q71X	Q	+	1	0	ARMC9	231787821	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	3.755000	0.55197	2.737000	0.93849	0.650000	0.86243	CAG		0.463	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		5	35	0	0	0	1	0	5	35				
OR2T3	343173	broad.mit.edu	37	1	248637083	248637083	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:248637083G>T	ENST00000359594.2	+	1	457	c.432G>T	c.(430-432)agG>agT	p.R144S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAACCAGAGGGTGTGCCAGC	0.552																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(430-432)agG>agT		olfactory receptor, family 2, subfamily T, member 3							27.0	27.0	27.0					1																	248637083		2194	4274	6468	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637083G>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.432G>T	1.37:g.248637083G>T	ENSP00000352604:p.Arg144Ser						p.R144S	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	457	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		144					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.432G>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	g	13.10	2.135291	0.37728	.	.	ENSG00000196539	ENST00000359594	T	0.40756	1.02	2.37	0.208	0.15221	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.44953	0.1318	M	0.63169	1.94	0.09310	N	1	P	0.45768	0.866	P	0.48982	0.597	T	0.33317	-0.9873	9	0.56958	D	0.05	.	6.5485	0.22420	0.4051:0.0:0.5949:0.0	.	144	Q8NH03	OR2T3_HUMAN	S	144	ENSP00000352604:R144S	ENSP00000352604:R144S	R	+	3	2	OR2T3	246703706	0.000000	0.05858	0.006000	0.13384	0.292000	0.27327	-0.728000	0.04925	0.109000	0.17891	0.186000	0.17326	AGG		0.552	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		8	41	1	0	4.68919e-08	1	5.1808e-08	8	41				
PLCL2	23228	broad.mit.edu	37	3	17052602	17052602	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr3:17052602A>C	ENST00000418129.2	+	2	1851	c.1386A>C	c.(1384-1386)gaA>gaC	p.E462D	PLCL2_ENST00000396755.2_Missense_Mutation_p.E462D|PLCL2_ENST00000432376.1_Missense_Mutation_p.E462D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	588	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACGAAGATGAAGGAGCAGAAA	0.433																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(1384-1386)gaA>gaC		phospholipase C-like 2							66.0	65.0	66.0					3																	17052602		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052602A>C	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1386A>C	3.37:g.17052602A>C	ENSP00000409637:p.Glu462Asp					PLCL2_ENST00000432376.1_Missense_Mutation_p.E462D|PLCL2_ENST00000396755.2_Missense_Mutation_p.E462D	p.E462D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	1851	+			588			PI-PLC X-box.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1386A>C	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.633|9.633	1.136808|1.136808	0.21123|0.21123	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376|ENST00000419842	T;T;T|.	0.52983|.	0.64;0.64;0.64|.	5.63|5.63	1.96|1.96	0.26148|0.26148	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57198|0.57198	0.2037|0.2037	.|.	.|.	.|.	0.52099|0.52099	D|D	0.999944|0.999944	P|.	0.45283|.	0.855|.	P|.	0.48334|.	0.574|.	T|T	0.48068|0.48068	-0.9067|-0.9067	9|4	0.52906|.	T|.	0.07|.	.|.	8.6339|8.6339	0.33936|0.33936	0.7214:0.0:0.2786:0.0|0.7214:0.0:0.2786:0.0	.|.	588|.	Q9UPR0|.	PLCL2_HUMAN|.	D|T	462;589;462;462|206	ENSP00000409637:E462D;ENSP00000379979:E462D;ENSP00000412836:E462D|.	ENSP00000285094:E589D|.	E|K	+|+	3|2	2|0	PLCL2|PLCL2	17027606|17027606	0.970000|0.970000	0.33590|0.33590	0.994000|0.994000	0.49952|0.49952	0.192000|0.192000	0.23643|0.23643	0.295000|0.295000	0.19065|0.19065	0.101000|0.101000	0.17610|0.17610	-0.256000|-0.256000	0.11100|0.11100	GAA|AAG		0.433	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			36	24	0	0	0	1	0	36	24				
PRRC2C	23215	broad.mit.edu	37	1	171509694	171509694	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:171509694G>T	ENST00000338920.4	+	16	3320	c.3083G>T	c.(3082-3084)cGg>cTg	p.R1028L	PRRC2C_ENST00000367742.3_Missense_Mutation_p.R1030L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1030L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1028L	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1028					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAAGAGGAACGGGAACAGAGG	0.433																																						ENST00000367742.3																			0											c.(3088-3090)cGg>cTg		proline-rich coiled-coil 2C							61.0	58.0	59.0					1																	171509694		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171509694G>T	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3083G>T	1.37:g.171509694G>T	ENSP00000343629:p.Arg1028Leu					PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1028L|PRRC2C_ENST00000338920.4_Missense_Mutation_p.R1028L|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1030L	p.R1030L			Q9Y520	PRC2C_HUMAN			16	3331	+			1028					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.3089G>T	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315846	0.40996	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02197	4.4;4.41;4.41;4.41	5.98	5.98	0.97165	.	0.000000	0.40908	D	0.000987	T	0.04815	0.0130	L	0.36672	1.1	0.58432	D	0.999999	D	0.69078	0.997	P	0.62089	0.898	T	0.50524	-0.8818	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	1028	Q9Y520-4	.	L	1030;1029;1028;1030;1028;785	ENSP00000375928:R1030L;ENSP00000410219:R1028L;ENSP00000356716:R1030L;ENSP00000343629:R1028L	ENSP00000343629:R1028L	R	+	2	0	PRRC2C	169776318	1.000000	0.71417	0.991000	0.47740	0.903000	0.53119	9.434000	0.97515	2.835000	0.97688	0.650000	0.86243	CGG		0.433	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		6	27	1	0	0.00198382	1	0.00205896	6	27				
RAB11FIP2	22841	broad.mit.edu	37	10	119798612	119798612	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr10:119798612C>T	ENST00000355624.3	-	3	1575	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.G379E	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	379					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GCTATCAGATCCCCCATTGTT	0.353																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1135-1137)gGa>gAa		RAB11 family interacting protein 2 (class I)							179.0	194.0	189.0					10																	119798612		2203	4300	6503	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798612C>T	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1136G>A	10.37:g.119798612C>T	ENSP00000347839:p.Gly379Glu					RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.G379E|RP11-354M20.3_ENST00000451610.2_RNA	p.G379E	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	3	1575	-		Colorectal(252;0.235)	379					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.1136G>A	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	C	9.075	0.997915	0.19043	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.63580	-0.05;-0.05	5.76	3.86	0.44501	.	0.196474	0.53938	D	0.000047	T	0.50326	0.1609	L	0.44542	1.39	0.50467	D	0.999877	B;P	0.41366	0.376;0.747	B;B	0.36719	0.231;0.224	T	0.43988	-0.9357	10	0.33141	T	0.24	-3.0895	11.3956	0.49841	0.136:0.7133:0.1507:0.0	.	379;379	Q3I768;Q7L804	.;RFIP2_HUMAN	E	379	ENSP00000347839:G379E;ENSP00000358200:G379E	ENSP00000347839:G379E	G	-	2	0	RAB11FIP2	119788602	0.983000	0.35010	0.703000	0.30354	0.978000	0.69477	1.266000	0.33039	0.823000	0.34589	0.650000	0.86243	GGA		0.353	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		23	101	0	0	0	1	0	23	101				
SMARCD3	6604	broad.mit.edu	37	7	150936506	150936506	+	Silent	SNP	G	G	A	rs139287814	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:150936506G>A	ENST00000262188.8	-	12	1784	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A	SMARCD3_ENST00000477169.1_5'Flank|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Silent_p.A445A|SMARCD3_ENST00000392811.2_Silent_p.A445A|MIR671_ENST00000390183.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	458					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCGACTGACGGCCTCCTGGG	0.612													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17969	0.0		0.0	False		,,,				2504	0.0					ENST00000392811.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(1333-1335)gcC>gcT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3		G	,,	1,4405	2.1+/-5.4	0,1,2202	45.0	50.0	48.0		1374,1335,1335	-10.0	0.0	7	dbSNP_134	48	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	SMARCD3	NM_001003801.1,NM_001003802.1,NM_003078.3	,,	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	,,	458/484,445/471,445/471	150936506	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150936506G>A	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1374C>T	7.37:g.150936506G>A						SMARCD3_ENST00000356800.2_Silent_p.A445A|SMARCD3_ENST00000262188.8_Silent_p.A458A	p.A445A	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1809	-			458					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	ENST00000262188.8	37	c.1335C>T	CCDS34780.1																																																																																				0.612	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801		22	54	0	0	0	1	0	22	54				
ZC3H4	23211	broad.mit.edu	37	19	47584838	47584838	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr19:47584838T>C	ENST00000253048.5	-	11	1409	c.1372A>G	c.(1372-1374)Atc>Gtc	p.I458V	RN7SL533P_ENST00000584468.1_RNA|ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	458							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCACCATTGATGCAGTTCCCA	0.547																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1372-1374)Atc>Gtc		zinc finger CCCH-type containing 4							140.0	140.0	140.0					19																	47584838		2059	4196	6255	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47584838T>C	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1372A>G	19.37:g.47584838T>C	ENSP00000253048:p.Ile458Val					ZC3H4_ENST00000594019.1_Intron	p.I458V	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	11	1409	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	458					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1372A>G	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488918	0.44249	.	.	ENSG00000130749	ENST00000253048	T	0.28895	1.59	5.72	4.7	0.59300	Zinc finger, CCCH-type (2);	0.121265	0.56097	N	0.000032	T	0.18841	0.0452	N	0.17474	0.49	0.38277	D	0.942325	B	0.14438	0.01	B	0.11329	0.006	T	0.07578	-1.0765	10	0.28530	T	0.3	.	10.6557	0.45673	0.0:0.0766:0.0:0.9234	.	458	Q9UPT8	ZC3H4_HUMAN	V	458	ENSP00000253048:I458V	ENSP00000253048:I458V	I	-	1	0	ZC3H4	52276678	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.727000	0.54984	0.993000	0.38866	0.533000	0.62120	ATC		0.547	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			14	41	0	0	0	1	0	14	41				
RIT2	6014	broad.mit.edu	37	18	40695399	40695399	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:40695399C>T	ENST00000326695.5	-	1	257	c.86G>A	c.(85-87)gGg>gAg	p.G29E	RIT2_ENST00000282028.4_Missense_Mutation_p.G29E|RIT2_ENST00000590910.1_Missense_Mutation_p.G29E|RIT2_ENST00000589109.1_Missense_Mutation_p.G29E	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	29					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAACTCCCCCTGCTCCCAG	0.512																																						ENST00000589109.1																			0				endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(85-87)gGg>gAg		Ras-like without CAAX 2							128.0	126.0	127.0					18																	40695399		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40695399C>T	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.86G>A	18.37:g.40695399C>T	ENSP00000321805:p.Gly29Glu					RIT2_ENST00000282028.4_Missense_Mutation_p.G29E|RIT2_ENST00000326695.5_Missense_Mutation_p.G29E|RIT2_ENST00000590910.1_Missense_Mutation_p.G29E	p.G29E	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN			1	257	-			29					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.86G>A	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996175	0.74703	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	T;T	0.78003	-1.14;-1.14	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000016	D	0.89357	0.6692	M	0.85462	2.755	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90922	0.4784	10	0.87932	D	0	.	17.2283	0.86977	0.0:1.0:0.0:0.0	.	29;29	Q99578-2;Q99578	.;RIT2_HUMAN	E	29	ENSP00000321805:G29E;ENSP00000282028:G29E	ENSP00000282028:G29E	G	-	2	0	RIT2	38949397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.855000	0.62925	2.496000	0.84212	0.555000	0.69702	GGG		0.512	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		23	199	0	0	0	1	0	23	199				
ZNF354C	30832	broad.mit.edu	37	5	178505981	178505981	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:178505981T>C	ENST00000315475.6	+	5	854	c.548T>C	c.(547-549)aTa>aCa	p.I183T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGTGTTCCTATAGAAAGGATA	0.358																																						ENST00000315475.6																			0				endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(547-549)aTa>aCa		zinc finger protein 354C							68.0	73.0	71.0					5																	178505981		2203	4300	6503	SO:0001583	missense	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178505981T>C		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.548T>C	5.37:g.178505981T>C	ENSP00000324064:p.Ile183Thr						p.I183T	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	854	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	183					Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	c.548T>C	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.329597	0.01298	.	.	ENSG00000177932	ENST00000315475	T	0.04917	3.53	3.94	-7.89	0.01174	.	.	.	.	.	T	0.00998	0.0033	N	0.00265	-1.74	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35798	-0.9774	9	0.02654	T	1	-0.2103	4.8066	0.13323	0.1101:0.47:0.1118:0.3081	.	183	Q86Y25	Z354C_HUMAN	T	183	ENSP00000324064:I183T	ENSP00000324064:I183T	I	+	2	0	ZNF354C	178438587	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	-0.831000	0.04405	-1.841000	0.01183	-0.353000	0.07706	ATA		0.358	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			29	43	0	0	0	1	0	29	43				
MED1	5469	broad.mit.edu	37	17	37564173	37564173	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:37564173G>A	ENST00000300651.6	-	17	4524	c.4301C>T	c.(4300-4302)cCa>cTa	p.P1434L	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTGATGAGTGGAGAGCCATA	0.488										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4300-4302)cCa>cTa		mediator complex subunit 1							70.0	71.0	71.0					17																	37564173		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564173G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4301C>T	17.37:g.37564173G>A	ENSP00000300651:p.Pro1434Leu	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.P1434L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4524	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1434			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4301C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014626	0.54468	.	.	ENSG00000125686	ENST00000300651	T	0.56275	0.47	4.34	4.34	0.51931	.	.	.	.	.	T	0.58509	0.2127	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	D	0.63488	0.915	T	0.65483	-0.6157	9	0.87932	D	0	-6.6329	17.4199	0.87512	0.0:0.0:1.0:0.0	.	1434	Q15648	MED1_HUMAN	L	1434	ENSP00000300651:P1434L	ENSP00000300651:P1434L	P	-	2	0	MED1	34817699	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.567000	0.82357	2.400000	0.81607	0.561000	0.74099	CCA		0.488	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		24	67	0	0	0	1	0	24	67				
FOLH1	2346	broad.mit.edu	37	11	49227672	49227672	+	Silent	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:49227672A>G	ENST00000256999.2	-	2	431	c.171T>C	c.(169-171)aaT>aaC	p.N57N	FOLH1_ENST00000533034.1_Silent_p.N42N|FOLH1_ENST00000356696.3_Silent_p.N57N|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.N42N	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	57					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATGCTTTCATATTATGCTTTG	0.323																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(124-126)aaT>aaC		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						49.0	53.0	52.0					11																	49227672		2198	4283	6481	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49227672A>G	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.171T>C	11.37:g.49227672A>G						FOLH1_ENST00000256999.2_Silent_p.N57N|FOLH1_ENST00000533034.1_Silent_p.N42N|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.N57N	p.N42N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			3	494	-			57					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.126T>C	CCDS7946.1																																																																																				0.323	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		24	34	0	0	0	1	0	24	34				
PRDM9	56979	broad.mit.edu	37	5	23522415	23522415	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:23522415C>G	ENST00000296682.3	+	7	693	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	171					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAACCTAGAACTCAGGAAGAA	0.433										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(511-513)Ctc>Gtc		PR domain containing 9							126.0	128.0	127.0					5																	23522415		1881	4129	6010	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522415C>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.511C>G	5.37:g.23522415C>G	ENSP00000296682:p.Leu171Val	HNSCC(3;0.000094)					p.L171V	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			7	693	+			171					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.511C>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871758	0.33069	.	.	ENSG00000164256	ENST00000296682	T	0.08546	3.08	3.63	1.69	0.24217	SSXRD motif (1);	.	.	.	.	T	0.09158	0.0226	L	0.27053	0.805	0.09310	N	1	D	0.55605	0.972	P	0.51266	0.664	T	0.25257	-1.0137	9	0.87932	D	0	0.0038	5.3299	0.15926	0.0:0.6664:0.2088:0.1249	.	171	Q9NQV7	PRDM9_HUMAN	V	171	ENSP00000296682:L171V	ENSP00000296682:L171V	L	+	1	0	PRDM9	23558172	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.434000	0.21494	0.258000	0.21686	-0.347000	0.07816	CTC		0.433	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		33	118	0	0	0	1	0	33	118				
TOM1	10043	broad.mit.edu	37	22	35726367	35726367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr22:35726367C>T	ENST00000449058.2	+	8	918	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	TOM1_ENST00000382034.5_Nonsense_Mutation_p.Q198*|TOM1_ENST00000436462.2_Nonsense_Mutation_p.Q227*|TOM1_ENST00000425375.1_Nonsense_Mutation_p.Q220*|TOM1_ENST00000411850.1_Nonsense_Mutation_p.Q265*|TOM1_ENST00000447733.1_Nonsense_Mutation_p.Q232*	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	265	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGAGCCATGCAGCAGCGGGT	0.542																																						ENST00000382034.5																			0				NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						c.(592-594)Cag>Tag		target of myb1 (chicken)							132.0	109.0	117.0					22																	35726367		2203	4300	6503	SO:0001587	stop_gained	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35726367C>T	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.793C>T	22.37:g.35726367C>T	ENSP00000394466:p.Gln265*					TOM1_ENST00000436462.2_Nonsense_Mutation_p.Q227*|TOM1_ENST00000447733.1_Nonsense_Mutation_p.Q232*|TOM1_ENST00000425375.1_Nonsense_Mutation_p.Q220*|TOM1_ENST00000411850.1_Nonsense_Mutation_p.Q265*|TOM1_ENST00000449058.2_Nonsense_Mutation_p.Q265*	p.Q198*			O60784	TOM1_HUMAN			9	934	+			265					B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Nonsense_Mutation	SNP	ENST00000449058.2	37	c.592C>T	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	c	38	7.195707	0.98129	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000412456;ENST00000451197;ENST00000436462;ENST00000382034	.	.	.	5.19	5.19	0.71726	.	0.051568	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	1.1413	19.0969	0.93255	0.0:1.0:0.0:0.0	.	.	.	.	X	232;259;265;265;220;2;274;227;198	.	ENSP00000371465:Q198X	Q	+	1	0	TOM1	34056367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.002000	0.70693	2.575000	0.86900	0.552000	0.68991	CAG		0.542	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		36	92	0	0	0	1	0	36	92				
MED13L	23389	broad.mit.edu	37	12	116421091	116421091	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:116421091T>C	ENST00000281928.3	-	21	4992	c.4786A>G	c.(4786-4788)Att>Gtt	p.I1596V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1596	Ser-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCTGGCTAATACCAGGAGCA	0.512																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(4786-4788)Att>Gtt		mediator complex subunit 13-like							115.0	107.0	109.0					12																	116421091		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116421091T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4786A>G	12.37:g.116421091T>C	ENSP00000281928:p.Ile1596Val						p.I1596V	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	21	4992	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1596			Ser-rich.		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.4786A>G	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.510795	0.27036	.	.	ENSG00000123066	ENST00000281928	T	0.72835	-0.69	6.17	0.95	0.19572	.	0.776471	0.12402	N	0.472043	T	0.42966	0.1226	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23797	-1.0178	10	0.16896	T	0.51	.	9.4061	0.38462	0.0:0.5177:0.0:0.4823	.	1596	Q71F56	MD13L_HUMAN	V	1596	ENSP00000281928:I1596V	ENSP00000281928:I1596V	I	-	1	0	MED13L	114905474	0.000000	0.05858	0.008000	0.14137	0.955000	0.61496	-0.747000	0.04823	0.165000	0.19558	0.533000	0.62120	ATT		0.512	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			15	47	0	0	0	1	0	15	47				
ZNF521	25925	broad.mit.edu	37	18	22807417	22807417	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:22807417G>C	ENST00000361524.3	-	4	613	c.465C>G	c.(463-465)ttC>ttG	p.F155L	ZNF521_ENST00000538137.2_Missense_Mutation_p.F155L|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	155					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCTTGTGTTTGAACAGCCTAC	0.498			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(463-465)ttC>ttG		zinc finger protein 521							130.0	119.0	123.0					18																	22807417		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807417G>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.465C>G	18.37:g.22807417G>C	ENSP00000354794:p.Phe155Leu					ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.F155L	p.F155L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	613	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		155					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.465C>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975158	0.18736	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.41065	1.01;1.01	5.93	4.13	0.48395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63908	0.2551	M	0.83852	2.665	0.30347	N	0.78513	D	0.71674	0.998	D	0.77004	0.989	T	0.66316	-0.5954	10	0.59425	D	0.04	-32.0718	10.4065	0.44260	0.2019:0.0:0.7981:0.0	.	155	Q96K83	ZN521_HUMAN	L	155;189;155	ENSP00000354794:F155L;ENSP00000382352:F155L	ENSP00000354794:F155L	F	-	3	2	ZNF521	21061415	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.242000	0.43106	1.513000	0.48852	0.655000	0.94253	TTC		0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		25	66	0	0	0	1	0	25	66				
GPR64	10149	broad.mit.edu	37	X	19022940	19022940	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:19022940A>G	ENST00000379869.3	-	23	2060	c.1897T>C	c.(1897-1899)Tat>Cat	p.Y633H	GPR64_ENST00000379878.3_Missense_Mutation_p.Y617H|GPR64_ENST00000379873.2_Missense_Mutation_p.Y633H|GPR64_ENST00000360279.4_Missense_Mutation_p.Y611H|GPR64_ENST00000379876.1_Missense_Mutation_p.Y609H|GPR64_ENST00000354791.3_Missense_Mutation_p.Y617H|GPR64_ENST00000356606.4_Missense_Mutation_p.Y619H|GPR64_ENST00000357991.3_Missense_Mutation_p.Y630H|GPR64_ENST00000357544.3_Missense_Mutation_p.Y603H|GPR64_ENST00000340581.3_Missense_Mutation_p.Y514H	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	633					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CAACCAATATATGTAATGAAC	0.358																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1849-1851)Tat>Cat		G protein-coupled receptor 64							149.0	149.0	149.0					X																	19022940		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19022940A>G	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1897T>C	X.37:g.19022940A>G	ENSP00000369198:p.Tyr633His					GPR64_ENST00000360279.4_Missense_Mutation_p.Y611H|GPR64_ENST00000354791.3_Missense_Mutation_p.Y617H|GPR64_ENST00000379869.3_Missense_Mutation_p.Y633H|GPR64_ENST00000379873.2_Missense_Mutation_p.Y633H|GPR64_ENST00000356606.4_Missense_Mutation_p.Y619H|GPR64_ENST00000379876.1_Missense_Mutation_p.Y609H|GPR64_ENST00000357544.3_Missense_Mutation_p.Y603H|GPR64_ENST00000357991.3_Missense_Mutation_p.Y630H|GPR64_ENST00000340581.3_Missense_Mutation_p.Y514H	p.Y617H	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			22	2090	-	Hepatocellular(33;0.183)		633			GPS.		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1849T>C	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.102282	0.56183	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	6.03	6.03	0.97812	GPCR, family 2-like (1);	0.000000	0.48286	D	0.000194	T	0.66567	0.2802	M	0.79011	2.435	0.80722	D	1	P;D;D;D;D;D;D;D;D;D;D	0.89917	0.933;1.0;1.0;0.987;0.987;1.0;1.0;1.0;1.0;0.989;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.928;0.996;1.0;0.962;0.962;1.0;1.0;0.999;0.999;0.952;1.0	T	0.70985	-0.4723	10	0.87932	D	0	.	15.4737	0.75461	1.0:0.0:0.0:0.0	.	514;595;603;609;617;633;611;619;630;633;617	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	H	633;617;617;609;603;633;611;630;619;514	ENSP00000369202:Y633H;ENSP00000369207:Y617H;ENSP00000346845:Y617H;ENSP00000369205:Y609H;ENSP00000350152:Y603H;ENSP00000369198:Y633H;ENSP00000353421:Y611H;ENSP00000350680:Y630H;ENSP00000349015:Y619H;ENSP00000344972:Y514H	ENSP00000344972:Y514H	Y	-	1	0	GPR64	18932861	1.000000	0.71417	0.908000	0.35775	0.052000	0.14988	7.088000	0.76901	2.038000	0.60285	0.486000	0.48141	TAT		0.358	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			37	86	0	0	0	1	0	37	86				
COQ6	51004	broad.mit.edu	37	14	74428218	74428218	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr14:74428218T>A	ENST00000334571.2	+	10	1195	c.1155T>A	c.(1153-1155)gaT>gaA	p.D385E	COQ6_ENST00000238709.4_Missense_Mutation_p.D310E|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.D360E	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	385					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GCTTTGGGGATATCTCCAGCT	0.512																																						ENST00000334571.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1153-1155)gaT>gaA		coenzyme Q6 monooxygenase							103.0	88.0	94.0					14																	74428218		2203	4300	6503	SO:0001583	missense	51004				ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr14:74428218T>A	AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.1155T>A	14.37:g.74428218T>A	ENSP00000333946:p.Asp385Glu					COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.D310E|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000394026.4_Missense_Mutation_p.D360E|COQ6_ENST00000557780.1_3'UTR	p.D385E	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00337)	10	1195	+			385					B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	c.1155T>A	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424845	0.83667	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000334571;ENST00000557780;ENST00000556299	T;T;T	0.74002	-0.8;-0.8;-0.8	5.33	4.14	0.48551	Monooxygenase, FAD-binding (1);Aromatic-ring hydroxylase-like (1);Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/VisC/COQ6, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88562	0.6470	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89459	0.3735	10	0.87932	D	0	-0.0436	9.9432	0.41593	0.0:0.0887:0.0:0.9113	.	360;385;310;310	B7Z3K8;Q9Y2Z9;G3XA86;Q86U30	.;COQ6_HUMAN;.;.	E	360;310;310;385;73;73	ENSP00000377594:D360E;ENSP00000238709:D310E;ENSP00000333946:D385E	ENSP00000238709:D310E	D	+	3	2	COQ6	73497971	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	2.103000	0.41806	0.976000	0.38417	0.533000	0.62120	GAT		0.512	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1			14	33	0	0	0	1	0	14	33				
TMEM117	84216	broad.mit.edu	37	12	44605082	44605082	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:44605082A>G	ENST00000266534.3	+	5	647	c.520A>G	c.(520-522)Atg>Gtg	p.M174V	TMEM117_ENST00000536799.1_Missense_Mutation_p.M70V|TMEM117_ENST00000551577.1_Missense_Mutation_p.M174V	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	174						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.M174L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GGTCACTGATATGATGCTTCA	0.353																																						ENST00000266534.3																			1	Substitution - Missense(1)	p.M174L(1)	lung(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(520-522)Atg>Gtg		transmembrane protein 117							103.0	102.0	102.0					12																	44605082		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44605082A>G	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.520A>G	12.37:g.44605082A>G	ENSP00000266534:p.Met174Val					TMEM117_ENST00000536799.1_Missense_Mutation_p.M70V|TMEM117_ENST00000551577.1_Missense_Mutation_p.M174V	p.M174V	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	5	647	+	Lung SC(27;0.192)		174						Missense_Mutation	SNP	ENST00000266534.3	37	c.520A>G	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.192621	0.78902	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.50548	0.74;0.74;0.74	5.92	5.92	0.95590	.	0.074144	0.85682	D	0.000000	T	0.65995	0.2745	L	0.61218	1.895	0.45439	D	0.998416	B;P;P	0.43578	0.452;0.811;0.811	P;P;P	0.60789	0.455;0.879;0.828	T	0.67205	-0.5729	10	0.72032	D	0.01	-28.7588	16.3631	0.83280	1.0:0.0:0.0:0.0	.	174;70;174	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	V	174;174;70	ENSP00000448595:M174V;ENSP00000266534:M174V;ENSP00000445243:M70V	ENSP00000266534:M174V	M	+	1	0	TMEM117	42891349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.002000	0.88514	2.266000	0.75297	0.533000	0.62120	ATG		0.353	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		14	67	0	0	0	1	0	14	67				
SLCO3A1	28232	broad.mit.edu	37	15	92671678	92671678	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:92671678A>T	ENST00000318445.6	+	7	1685	c.1471A>T	c.(1471-1473)Atc>Ttc	p.I491F	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.I491F	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	491	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGCAGATGGCATCACCTACCT	0.567																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1471-1473)Atc>Ttc		solute carrier organic anion transporter family, member 3A1							156.0	118.0	131.0					15																	92671678		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92671678A>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1471A>T	15.37:g.92671678A>T	ENSP00000320634:p.Ile491Phe					SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.I491F	p.I491F	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		7	1685	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		491			Kazal-like.		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1471A>T	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992704	0.54041	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.04603	3.59;3.59	5.46	-0.941	0.10402	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Protease inhibitor, Kazal-type (1);	0.358821	0.35436	N	0.003205	T	0.08670	0.0215	L	0.55213	1.73	0.45567	D	0.99851	B;P;P	0.36222	0.441;0.493;0.544	B;B;P	0.45343	0.154;0.189;0.477	T	0.06023	-1.0850	10	0.62326	D	0.03	.	11.506	0.50466	0.5345:0.0:0.4655:0.0	.	433;491;491	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	F	491;491;210	ENSP00000320634:I491F;ENSP00000387846:I491F	ENSP00000320634:I491F	I	+	1	0	SLCO3A1	90472682	1.000000	0.71417	0.829000	0.32907	0.993000	0.82548	2.338000	0.43957	-0.433000	0.07286	-0.250000	0.11733	ATC		0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		26	66	0	0	0	1	0	26	66				
UMODL1	89766	broad.mit.edu	37	21	43547902	43547902	+	Silent	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr21:43547902C>A	ENST00000408910.2	+	20	3651	c.3651C>A	c.(3649-3651)ctC>ctA	p.L1217L	UMODL1_ENST00000400424.2_Silent_p.L1145L|UMODL1_ENST00000400427.1_Silent_p.L1273L|UMODL1_ENST00000408989.2_Silent_p.L1345L|UMODL1_ENST00000400423.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1217	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTGCAAACTCCGCGTCTGCA	0.468																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3817-3819)ctC>ctA		uromodulin-like 1							126.0	123.0	124.0					21																	43547902		2002	4172	6174	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547902C>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3651C>A	21.37:g.43547902C>A						UMODL1_ENST00000408989.2_Silent_p.L1345L|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Silent_p.L1145L|UMODL1_ENST00000408910.2_Silent_p.L1217L	p.L1273L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			19	4215	+			1217					C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.3819C>A	CCDS42936.1																																																																																				0.468	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			8	39	1	0	2.17888e-05	1	2.35044e-05	8	39				
PRKAA1	5562	broad.mit.edu	37	5	40767661	40767661	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:40767661T>C	ENST00000397128.2	-	6	736	c.728A>G	c.(727-729)tAt>tGt	p.Y243C	PRKAA1_ENST00000354209.3_Missense_Mutation_p.Y258C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTGAGGGGTATAGAAGATCCC	0.388																																						ENST00000397128.2																			0				breast(1)	1						c.(727-729)tAt>tGt		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						115.0	107.0	110.0					5																	40767661		1839	4100	5939	SO:0001583	missense	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40767661T>C		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.728A>G	5.37:g.40767661T>C	ENSP00000380317:p.Tyr243Cys					PRKAA1_ENST00000354209.3_Missense_Mutation_p.Y258C	p.Y243C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			6	736	-			243			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	37	c.728A>G	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883449	0.72410	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	T;T	0.65364	-0.15;-0.15	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051889	0.85682	D	0.000000	T	0.69468	0.3114	L	0.37561	1.115	0.80722	D	1	D;D	0.64830	0.994;0.993	P;D	0.64144	0.8;0.922	T	0.68720	-0.5334	10	0.39692	T	0.17	-17.7374	15.9962	0.80250	0.0:0.0:0.0:1.0	.	243;258	Q13131;Q13131-2	AAPK1_HUMAN;.	C	243;258	ENSP00000380317:Y243C;ENSP00000346148:Y258C	ENSP00000346148:Y258C	Y	-	2	0	AC008810.1	40803418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.911000	0.63328	2.180000	0.69256	0.459000	0.35465	TAT		0.388	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		23	89	0	0	0	1	0	23	89				
CD163	9332	broad.mit.edu	37	12	7639150	7639150	+	Silent	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr12:7639150G>A	ENST00000359156.4	-	10	2605	c.2403C>T	c.(2401-2403)caC>caT	p.H801H	CD163_ENST00000541972.1_Silent_p.H789H|CD163_ENST00000432237.2_Silent_p.H801H|CD163_ENST00000396620.3_Silent_p.H834H|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	801	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GCCCCCAGCCGTGTGAATGGC	0.483																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2401-2403)caC>caT		CD163 molecule							122.0	124.0	123.0					12																	7639150		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639150G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2403C>T	12.37:g.7639150G>A						CD163_ENST00000432237.2_Silent_p.H801H|CD163_ENST00000541972.1_Silent_p.H789H|CD163_ENST00000396620.3_Silent_p.H834H	p.H801H	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			10	2605	-			801			SRCR 7.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.2403C>T	CCDS8578.1																																																																																				0.483	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		52	131	0	0	0	1	0	52	131				
VPS13A	23230	broad.mit.edu	37	9	79898351	79898351	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:79898351G>C	ENST00000360280.3	+	30	3459	c.3199G>C	c.(3199-3201)Gat>Cat	p.D1067H	VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000376634.4_Missense_Mutation_p.D1067H|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1067H|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1067					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTATTCAAGATCAGAAATG	0.254																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(3199-3201)Gat>Cat		vacuolar protein sorting 13 homolog A (S. cerevisiae)							31.0	33.0	32.0					9																	79898351		2184	4276	6460	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79898351G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3199G>C	9.37:g.79898351G>C	ENSP00000353422:p.Asp1067His					VPS13A_ENST00000376634.4_Missense_Mutation_p.D1067H|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.D1067H|VPS13A_ENST00000376636.3_Intron	p.D1067H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			30	3459	+			1067					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.3199G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090772	0.76756	.	.	ENSG00000197969	ENST00000376634;ENST00000360280;ENST00000357409	T;T;T	0.50001	0.85;0.76;0.85	5.74	4.85	0.62838	.	0.262121	0.38111	N	0.001818	T	0.57154	0.2034	M	0.68317	2.08	0.80722	D	1	P;P;P	0.43633	0.716;0.813;0.813	B;P;P	0.48840	0.341;0.592;0.468	T	0.62067	-0.6932	10	0.66056	D	0.02	.	14.7999	0.69906	0.0692:0.0:0.9308:0.0	.	1067;1067;1067	Q96RL7;Q96RL7-2;Q96RL7-4	VP13A_HUMAN;.;.	H	1067	ENSP00000365821:D1067H;ENSP00000353422:D1067H;ENSP00000349985:D1067H	ENSP00000349985:D1067H	D	+	1	0	VPS13A	79088171	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.702000	0.74628	1.439000	0.47511	0.650000	0.86243	GAT		0.254	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		12	23	0	0	0	1	0	12	23				
DAGLA	747	broad.mit.edu	37	11	61511763	61511763	+	Silent	SNP	C	C	G	rs145101853		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:61511763C>G	ENST00000257215.5	+	20	3047	c.2931C>G	c.(2929-2931)gcC>gcG	p.A977A	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	977					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGCTCTTTGCCGGCTCAGCCG	0.677																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2929-2931)gcC>gcG		diacylglycerol lipase, alpha							55.0	64.0	61.0					11																	61511763		2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511763C>G	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2931C>G	11.37:g.61511763C>G							p.A977A	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	3047	+			977					A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.2931C>G	CCDS31578.1																																																																																				0.677	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		19	64	0	0	0	1	0	19	64				
ZADH2	284273	broad.mit.edu	37	18	72914167	72914167	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:72914167G>T	ENST00000322342.3	-	2	627	c.338C>A	c.(337-339)gCc>gAc	p.A113D	ZADH2_ENST00000537114.2_5'UTR	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	113						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TGTGTATCTGGCACTAGCAGA	0.542																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(337-339)gCc>gAc		zinc binding alcohol dehydrogenase domain containing 2							144.0	141.0	142.0					18																	72914167		2203	4300	6503	SO:0001583	missense	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72914167G>T	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.338C>A	18.37:g.72914167G>T	ENSP00000323678:p.Ala113Asp					ZADH2_ENST00000537114.2_5'UTR	p.A113D	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	627	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	113					A8KA15|B4DZ91	Missense_Mutation	SNP	ENST00000322342.3	37	c.338C>A	CCDS12008.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115997	0.37339	.	.	ENSG00000180011	ENST00000322342	T	0.04654	3.58	5.21	5.21	0.72293	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	2.911080	0.00744	N	0.001036	T	0.03959	0.0111	N	0.02539	-0.55	0.80722	D	1	B	0.14805	0.011	B	0.08055	0.003	T	0.50398	-0.8833	10	0.16420	T	0.52	-3.8165	17.1755	0.86840	0.0:0.0:1.0:0.0	.	113	Q8N4Q0	ZADH2_HUMAN	D	113	ENSP00000323678:A113D	ENSP00000323678:A113D	A	-	2	0	ZADH2	71043155	1.000000	0.71417	0.953000	0.39169	0.993000	0.82548	7.405000	0.80007	0.755000	0.32990	0.650000	0.86243	GCC		0.542	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		30	60	1	0	3.1745e-13	1	3.81496e-13	30	60				
CNTNAP2	26047	broad.mit.edu	37	7	146825855	146825855	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:146825855T>G	ENST00000361727.3	+	7	1526	c.1010T>G	c.(1009-1011)aTg>aGg	p.M337R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	337	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAGGCTGCATGGAAAGCATC	0.408										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1009-1011)aTg>aGg		contactin associated protein-like 2							111.0	114.0	113.0					7																	146825855		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146825855T>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1010T>G	7.37:g.146825855T>G	ENSP00000354778:p.Met337Arg	HNSCC(39;0.1)					p.M337R	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		7	1526	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	337			Laminin G-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1010T>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197479	0.79015	.	.	ENSG00000174469	ENST00000361727	T	0.81163	-1.46	5.84	5.84	0.93424	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89192	0.6645	M	0.79475	2.455	0.80722	D	1	D	0.65815	0.995	D	0.68621	0.959	D	0.90442	0.4432	10	0.87932	D	0	.	15.0509	0.71867	0.0:0.0:0.0:1.0	.	337	Q9UHC6	CNTP2_HUMAN	R	337	ENSP00000354778:M337R	ENSP00000354778:M337R	M	+	2	0	CNTNAP2	146456788	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.904000	0.87408	2.243000	0.73865	0.533000	0.62120	ATG		0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			34	94	0	0	0	1	0	34	94				
SYT4	6860	broad.mit.edu	37	18	40850388	40850388	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr18:40850388C>G	ENST00000255224.3	-	4	1564	c.1196G>C	c.(1195-1197)gGa>gCa	p.G399A	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.G381A	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	399					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCCACCAGTTCCTTCTGCTGC	0.493																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1195-1197)gGa>gCa		synaptotagmin IV							156.0	154.0	155.0					18																	40850388		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850388C>G	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1196G>C	18.37:g.40850388C>G	ENSP00000255224:p.Gly399Ala					SYT4_ENST00000590752.1_Missense_Mutation_p.G381A|SYT4_ENST00000586678.1_5'UTR	p.G399A	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			4	1564	-			399					B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.1196G>C	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041410	0.35989	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.71461	-0.57	5.58	5.58	0.84498	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.73118	0.3546	M	0.83012	2.62	0.80722	D	1	P;P	0.52577	0.954;0.954	B;B	0.38194	0.267;0.267	T	0.77507	-0.2562	10	0.39692	T	0.17	.	19.5717	0.95423	0.0:1.0:0.0:0.0	.	381;399	B4DEU3;Q9H2B2	.;SYT4_HUMAN	A	399;204	ENSP00000255224:G399A	ENSP00000255224:G399A	G	-	2	0	SYT4	39104386	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.035000	0.70940	2.644000	0.89710	0.655000	0.94253	GGA		0.493	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		21	269	0	0	0	1	0	21	269				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	78	0	0	0	1	0	6	78				
MRC2	9902	broad.mit.edu	37	17	60767596	60767596	+	Silent	SNP	G	G	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:60767596G>T	ENST00000303375.5	+	26	4224	c.3822G>T	c.(3820-3822)cgG>cgT	p.R1274R	MRC2_ENST00000446119.2_Silent_p.R140R	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1274	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TTCCCTTCCGGGAGCACTGCT	0.627																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(3820-3822)cgG>cgT		mannose receptor, C type 2							36.0	43.0	41.0					17																	60767596		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60767596G>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.3822G>T	17.37:g.60767596G>T						MRC2_ENST00000446119.2_Silent_p.R140R	p.R1274R	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			26	4224	+			1274			C-type lectin 8.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.3822G>T	CCDS11634.1																																																																																				0.627	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			11	17	1	0	0.000673444	1	0.000704289	11	17				
TANC2	26115	broad.mit.edu	37	17	61432352	61432352	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:61432352A>G	ENST00000424789.2	+	12	1965	c.1961A>G	c.(1960-1962)tAt>tGt	p.Y654C	TANC2_ENST00000389520.4_Missense_Mutation_p.Y654C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	654					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAAGGGTCCTATCTATATCTG	0.388																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1960-1962)tAt>tGt		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							151.0	143.0	145.0					17																	61432352		1869	4107	5976	SO:0001583	missense	26115						binding	g.chr17:61432352A>G	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1961A>G	17.37:g.61432352A>G	ENSP00000387593:p.Tyr654Cys					TANC2_ENST00000389520.4_Missense_Mutation_p.Y654C	p.Y654C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			12	1965	+			654					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1961A>G	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167663	0.57476	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.69435	-0.4;-0.4	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	M	0.62723	1.935	0.54753	D	0.999987	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.68621	0.959;0.95;0.95	T	0.81560	-0.0877	10	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	654;564;654	Q9HCD6-2;D3DU10;Q9HCD6	.;.;TANC2_HUMAN	C	654	ENSP00000374171:Y654C;ENSP00000387593:Y654C	ENSP00000374171:Y654C	Y	+	2	0	TANC2	58786084	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.327000	0.79147	2.281000	0.76405	0.533000	0.62120	TAT		0.388	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			53	119	0	0	0	1	0	53	119				
DPP6	1804	broad.mit.edu	37	7	154585880	154585880	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:154585880C>G	ENST00000377770.3	+	11	1369	c.1228C>G	c.(1228-1230)Ctc>Gtc	p.L410V	DPP6_ENST00000427557.1_Missense_Mutation_p.L303V|DPP6_ENST00000332007.3_Missense_Mutation_p.L348V|DPP6_ENST00000404039.1_Missense_Mutation_p.L346V			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	410					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CATCCTCACCCTCTGCGACGC	0.657																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1036-1038)Ctc>Gtc		dipeptidyl-peptidase 6							36.0	40.0	39.0					7																	154585880		2119	4217	6336	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154585880C>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1228C>G	7.37:g.154585880C>G	ENSP00000367001:p.Leu410Val					DPP6_ENST00000377770.3_Missense_Mutation_p.L410V|DPP6_ENST00000332007.3_Missense_Mutation_p.L348V|DPP6_ENST00000427557.1_Missense_Mutation_p.L303V	p.L346V	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		11	1623	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	410						Missense_Mutation	SNP	ENST00000377770.3	37	c.1036C>G		.	.	.	.	.	.	.	.	.	.	C	11.54	1.670469	0.29693	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.21	4.21	0.49690	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	N	0.17800	0.525	0.58432	D	0.999997	B;B;B;B	0.30406	0.023;0.056;0.278;0.069	B;B;B;B	0.35182	0.078;0.079;0.197;0.13	T	0.03545	-1.1026	10	0.09084	T	0.74	-20.1922	16.5503	0.84471	0.0:1.0:0.0:0.0	.	303;348;410;346	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	V	346;410;348;303	ENSP00000385578:L346V;ENSP00000367001:L410V;ENSP00000328226:L348V;ENSP00000397303:L303V	ENSP00000328226:L348V	L	+	1	0	DPP6	154216813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.426000	0.59882	2.070000	0.61991	0.650000	0.86243	CTC		0.657	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		6	18	0	0	0	1	0	6	18				
DDX60	55601	broad.mit.edu	37	4	169188752	169188752	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:169188752G>A	ENST00000393743.3	-	22	3311	c.3020C>T	c.(3019-3021)gCt>gTt	p.A1007V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1007					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGTTAGTGCAGCACATGGGTG	0.289																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(3019-3021)gCt>gTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							108.0	98.0	101.0					4																	169188752		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169188752G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3020C>T	4.37:g.169188752G>A	ENSP00000377344:p.Ala1007Val						p.A1007V	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	22	3311	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1007					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.3020C>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904609	0.52333	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	T	0.23147	1.92	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000006	T	0.56601	0.1996	M	0.83603	2.65	0.40632	D	0.98186	D	0.89917	1.0	D	0.79108	0.992	T	0.63373	-0.6652	10	0.72032	D	0.01	.	18.7459	0.91792	0.0:0.0:1.0:0.0	.	1007	Q8IY21	DDX60_HUMAN	V	1007;99	ENSP00000377344:A1007V	ENSP00000377344:A1007V	A	-	2	0	DDX60	169425327	1.000000	0.71417	0.967000	0.41034	0.060000	0.15804	4.497000	0.60367	2.599000	0.87857	0.563000	0.77884	GCT		0.289	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		19	42	0	0	0	1	0	19	42				
KDM6A	7403	broad.mit.edu	37	X	44922694	44922694	+	Nonsense_Mutation	SNP	C	C	T	rs397514628		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:44922694C>T	ENST00000377967.4	+	16	1596	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R526*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R440*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R474*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.R519*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGCACAGGTACGATCTACTGG	0.463			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		9	Whole gene deletion(6)|No detectable mRNA/protein(2)|Substitution - Nonsense(1)	p.0?(6)|p.0(2)|p.R519*(1)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)|lung(1)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(1555-1557)Cga>Tga		lysine (K)-specific demethylase 6A							77.0	68.0	71.0					X																	44922694		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922694C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1555C>T	X.37:g.44922694C>T	ENSP00000367203:p.Arg519*					KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R526*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R440*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R474*	p.R519*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			16	1596	+			519					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1555C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861176|4.861176	0.91433|0.91433	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.365679|.	0.29053|.	N|.	0.013298|.	.|T	.|0.73885	.|0.3644	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74109	.|-0.3771	.|3	0.02654|.	T|.	1|.	-6.2392|-6.2392	17.7676|17.7676	0.88483|0.88483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	216;519;474;526;440;112|116;161	.|.	ENSP00000334340:R216X|.	R|T	+|+	1|2	2|0	KDM6A|KDM6A	44807638|44807638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	4.387000|4.387000	0.59626|0.59626	2.213000|2.213000	0.71641|0.71641	0.513000|0.513000	0.50165|0.50165	CGA|ACG		0.463	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		14	32	0	0	0	1	0	14	32				
SORBS2	8470	broad.mit.edu	37	4	186545478	186545478	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:186545478C>A	ENST00000284776.7	-	13	1602	c.1093G>T	c.(1093-1095)Gca>Tca	p.A365S	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.A269S|SORBS2_ENST00000355634.5_Missense_Mutation_p.A465S|SORBS2_ENST00000431808.1_Missense_Mutation_p.A365S	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	365					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGATTTCTGCGTTTTGCCGG	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1093-1095)Gca>Tca		sorbin and SH3 domain containing 2							68.0	68.0	68.0					4																	186545478		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545478C>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1093G>T	4.37:g.186545478C>A	ENSP00000284776:p.Ala365Ser					SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.A269S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.A465S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.A365S	p.A365S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	1656	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	365					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1093G>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413093	0.62511	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.40225	1.16;1.16;1.04;1.15	6.0	6.0	0.97389	.	0.105878	0.64402	D	0.000006	T	0.59197	0.2176	L	0.42245	1.32	0.44562	D	0.997522	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.994;0.952	T	0.47959	-0.9076	10	0.32370	T	0.25	-22.526	20.5753	0.99366	0.0:1.0:0.0:0.0	.	269;465;365	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	365;365;269;465	ENSP00000284776:A365S;ENSP00000411764:A365S;ENSP00000397482:A269S;ENSP00000347852:A465S	ENSP00000284776:A365S	A	-	1	0	SORBS2	186782472	1.000000	0.71417	0.973000	0.42090	0.969000	0.65631	4.770000	0.62309	2.869000	0.98440	0.558000	0.71614	GCA		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		22	48	1	0	7.87624e-14	1	9.54908e-14	22	48				
MID1	4281	broad.mit.edu	37	X	10535569	10535569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chrX:10535569C>A	ENST00000317552.4	-	2	419	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	MID1_ENST00000380779.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E7*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E7*|MID1_ENST00000380787.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E7*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	7					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGGTCAGTTCTGACTCCAGT	0.493																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(19-21)Gaa>Taa		midline 1 (Opitz/BBB syndrome)							86.0	82.0	83.0					X																	10535569		2203	4300	6503	SO:0001587	stop_gained	4281				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10535569C>A	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.19G>T	X.37:g.10535569C>A	ENSP00000312678:p.Glu7*					MID1_ENST00000380779.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E7*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E7*|MID1_ENST00000380787.1_Nonsense_Mutation_p.E7*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E7*	p.E7*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			2	419	-			7					B2RCG2|O75361|Q9BZX5	Nonsense_Mutation	SNP	ENST00000317552.4	37	c.19G>T	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	C	37	6.410728	0.97546	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894;ENST00000423614	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000312678:E7X	E	-	1	0	MID1	10495569	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.663000	0.83820	2.386000	0.81285	0.600000	0.82982	GAA		0.493	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			27	30	1	0	2.79863e-10	1	3.27703e-10	27	30				
SLC35F5	80255	broad.mit.edu	37	2	114476737	114476737	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:114476737A>T	ENST00000245680.2	-	14	1903	c.1490T>A	c.(1489-1491)aTt>aAt	p.I497N	MIR4782_ENST00000577987.1_RNA|SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	497					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TTACCTCTGAATTCGATGTTT	0.333																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(1489-1491)aTt>aAt		solute carrier family 35, member F5							72.0	72.0	72.0					2																	114476737		2202	4299	6501	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114476737A>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1490T>A	2.37:g.114476737A>T	ENSP00000245680:p.Ile497Asn					SLC35F5_ENST00000470204.2_5'UTR	p.I497N	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			14	1903	-			497					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.1490T>A	CCDS2119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.08|17.08	3.298016|3.298016	0.60086|0.60086	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000420066|ENST00000245680;ENST00000409106	.|T;T	.|0.48836	.|0.8;0.81	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.125717	.|0.52532	.|D	.|0.000070	T|T	0.47060|0.47060	0.1425|0.1425	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|P	.|0.50943	.|0.94	.|P	.|0.48030	.|0.564	T|T	0.36672|0.36672	-0.9738|-0.9738	5|10	.|0.31617	.|T	.|0.26	-15.9918|-15.9918	15.5084|15.5084	0.75760|0.75760	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|497	.|Q8WV83	.|S35F5_HUMAN	I|N	29|497;491	.|ENSP00000245680:I497N;ENSP00000386754:I491N	.|ENSP00000245680:I497N	F|I	-|-	1|2	0|0	SLC35F5|SLC35F5	114193207|114193207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	4.975000|4.975000	0.63777|0.63777	2.054000|2.054000	0.61138|0.61138	0.533000|0.533000	0.62120|0.62120	TTC|ATT		0.333	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		9	48	0	0	0	1	0	9	48				
PLXNA4	91584	broad.mit.edu	37	7	132169702	132169702	+	Intron	SNP	G	G	T	rs112214523	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr7:132169702G>T	ENST00000359827.3	-	3	2334				PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000378539.5_Missense_Mutation_p.A481E|PLXNA4_ENST00000423507.2_Intron			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A481V(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCAATGTTCGCCCCAGGTGG	0.483													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16672	0.0		0.0	False		,,,				2504	0.0					ENST00000378539.5																			1	Substitution - Missense(1)	p.A481V(1)	kidney(1)	NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1441-1443)gCg>gAg		plexin A4		G	,,GLU/ALA	29,4377	34.3+/-65.2	0,29,2174	90.0	88.0	89.0		,,1442	-0.3	0.0	7	dbSNP_132	89	0,8600		0,0,4300	no	intron,intron,missense	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	,,107	0,29,6474	TT,TG,GG		0.0,0.6582,0.223	,,	,,481/523	132169702	29,12977	2203	4300	6503	SO:0001627	intron_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132169702G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1371+4348C>A	7.37:g.132169702G>T						PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Intron	p.A481E	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN			5	1818	-			0			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1442C>A	CCDS43646.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	4.409	0.075557	0.08485	0.006582	0.0	ENSG00000221866	ENST00000378539	T	0.02323	4.34	3.37	-0.324	0.12706	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.17098	0.017	T	0.46247	-0.9205	9	0.72032	D	0.01	.	5.7274	0.18020	0.6191:0.0:0.3809:0.0	.	481	A4D1N6	.	E	481	ENSP00000367800:A481E	ENSP00000367800:A481E	A	-	2	0	PLXNA4	131820242	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.454000	0.21827	-0.049000	0.13379	-0.340000	0.08031	GCG		0.483	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		33	55	1	0	9.78485e-24	1	1.26465e-23	33	55				
KIF27	55582	broad.mit.edu	37	9	86518343	86518343	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr9:86518343T>G	ENST00000297814.2	-	4	1233	c.1090A>C	c.(1090-1092)Aaa>Caa	p.K364Q	KIF27_ENST00000334204.2_Missense_Mutation_p.K364Q|KIF27_ENST00000413982.1_Missense_Mutation_p.K364Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	364					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CGAAGCAATTTAATCTCAAAT	0.433																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(1090-1092)Aaa>Caa		kinesin family member 27							120.0	123.0	122.0					9																	86518343		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86518343T>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1090A>C	9.37:g.86518343T>G	ENSP00000297814:p.Lys364Gln					KIF27_ENST00000413982.1_Missense_Mutation_p.K364Q|KIF27_ENST00000334204.2_Missense_Mutation_p.K364Q	p.K364Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			4	1233	-			364					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1090A>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.353772	0.41700	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.72394	-0.65;-0.65;-0.65	5.56	4.36	0.52297	.	0.096478	0.43416	D	0.000575	T	0.73233	0.3561	L	0.54323	1.7	0.28075	N	0.932431	P;P;D	0.65815	0.879;0.494;0.995	P;B;P	0.57425	0.488;0.159;0.82	T	0.64588	-0.6372	10	0.12430	T	0.62	.	12.3118	0.54933	0.0:0.0:0.1411:0.8589	.	364;364;364	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	Q	364	ENSP00000297814:K364Q;ENSP00000401688:K364Q;ENSP00000333928:K364Q	ENSP00000297814:K364Q	K	-	1	0	KIF27	85708163	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.181000	0.50903	2.125000	0.65367	0.533000	0.62120	AAA		0.433	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		30	85	0	0	0	1	0	30	85				
PCDHA10	56139	broad.mit.edu	37	5	140237387	140237387	+	Missense_Mutation	SNP	T	T	G	rs251364	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:140237387T>G	ENST00000307360.5	+	1	1754	c.1754T>G	c.(1753-1755)gTt>gGt	p.V585G	PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	585			V -> G (in dbSNP:rs251364).		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCGGTGGTTGCGGGTCAC	0.662													.|||	3050	0.609026	0.6944	0.5605	5008	,	,		15693	0.4474		0.6412	False		,,,				2504	0.6616					ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1753-1755)gTt>gGt				G	,GLY/VAL,,,,,,,,,,,GLY/VAL,	1816,828		676,464,182	88.0	82.0	84.0		,1754,,,,,,,,,,,1754,	1.7	0.1	5	dbSNP_79	84	2856,1726		996,864,431	no	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron	PCDHA9,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031859.1,NM_031860.1	,109,,,,,,,,,,,109,	1672,1328,613	GG,GT,TT		37.6691,31.3162,35.3446	,,,,,,,,,,,,,	,585/949,,,,,,,,,,,585/845,	140237387	4672,2554	1322	2291	3613	SO:0001583	missense	56139							g.chr5:140237387T>G	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1754T>G	5.37:g.140237387T>G	ENSP00000304234:p.Val585Gly					PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.V585G	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1754	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1754T>G	CCDS54921.1	1339	0.6130952380952381	351	0.7134146341463414	233	0.643646408839779	267	0.46678321678321677	488	0.6437994722955145	G	0.001	-3.128858	0.00031	0.686838	0.623309	ENSG00000250120	ENST00000307360	T	0.38240	1.15	3.68	1.7	0.24286	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.00012	0.0000	N	0.01109	-1.01	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37407	-0.9707	8	0.12103	T	0.63	.	0.3594	0.00362	0.3016:0.1903:0.3138:0.1943	rs251364;rs17844345;rs52819920;rs61383662	585;585	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	G	585	ENSP00000304234:V585G	ENSP00000304234:V585G	V	+	2	0	PCDHA10	140217571	0.000000	0.05858	0.143000	0.22291	0.003000	0.03518	0.501000	0.22578	0.360000	0.24265	-0.323000	0.08544	GTT		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		3	31	0	0	0	1	0	3	31				
VPS13D	55187	broad.mit.edu	37	1	12414089	12414090	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr1:12414089_12414090delTC	ENST00000358136.3	+	47	9620_9621	c.9490_9491delTC	c.(9490-9492)tctfs	p.S3164fs	VPS13D_ENST00000356315.4_Frame_Shift_Del_p.S3139fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AAACATATTTTCTGACAGTGCA	0.356																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(9490-9492)tfs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12414089_12414090delTC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9490_9491delTC	1.37:g.12414089_12414090delTC	ENSP00000350854:p.Ser3164fs					VPS13D_ENST00000356315.4_Frame_Shift_Del_p.S3139fs	p.S3164fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	47	9620_9621	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3163						Frame_Shift_Del	DEL	ENST00000358136.3	37	c.9490_9491delTC	CCDS30588.1																																																																																				0.356	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		16	73						16	73	---	---	---	---
CD28	940	broad.mit.edu	37	2	204591669	204591669	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr2:204591669delC	ENST00000324106.8	+	2	515	c.366delC	c.(364-366)tacfs	p.Y122fs	CD28_ENST00000374478.4_Intron|CD28_ENST00000374481.3_Intron|CD28_ENST00000458610.2_Frame_Shift_Del_p.Y136fs	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	122	Ig-like V-type.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CTCCTCCTTACCTAGACAATG	0.368																																						ENST00000324106.7																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(364-366)tafs		CD28 molecule							62.0	60.0	61.0					2																	204591669		2203	4300	6503	SO:0001589	frameshift_variant	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204591669delC	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.366delC	2.37:g.204591669delC	ENSP00000324890:p.Tyr122fs					CD28_ENST00000458610.2_Frame_Shift_Del_p.Y136fs|CD28_ENST00000374481.3_Intron|CD28_ENST00000374478.4_Intron	p.Y122fs	NM_006139.3	NP_006130.1	P10747	CD28_HUMAN			2	515	+			122			Ig-like V-type.		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Frame_Shift_Del	DEL	ENST00000324106.8	37	c.366delC	CCDS2361.1																																																																																				0.368	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		23	30						23	30	---	---	---	---
MFSD7	84179	broad.mit.edu	37	4	678633	678634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr4:678633_678634insA	ENST00000404286.2	-	5	612_613	c.597_598insT	c.(595-600)tataccfs	p.T200fs	MFSD7_ENST00000322224.4_Frame_Shift_Ins_p.T200fs|MFSD7_ENST00000347950.5_Frame_Shift_Ins_p.T81fs|MFSD7_ENST00000513740.1_5'Flank|MFSD7_ENST00000515118.1_Frame_Shift_Ins_p.T103fs|MFSD7_ENST00000503156.1_Frame_Shift_Ins_p.T136fs	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	200					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GCAGGGATGGTATAGACACCGA	0.683																																						ENST00000322224.4																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(595-600)taccatfs		major facilitator superfamily domain containing 7																																				SO:0001589	frameshift_variant	84179				transmembrane transport	integral to membrane		g.chr4:678633_678634insA	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.598dupT	4.37:g.678634_678634dupA	ENSP00000384616:p.Thr200fs					MFSD7_ENST00000404286.2_Frame_Shift_Ins_p.H200fs|MFSD7_ENST00000515118.1_Frame_Shift_Ins_p.H103fs|MFSD7_ENST00000503156.1_Frame_Shift_Ins_p.H136fs|MFSD7_ENST00000347950.5_Frame_Shift_Ins_p.H81fs	p.H200fs			Q6UXD7	MFSD7_HUMAN			5	910_911	-			200					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Frame_Shift_Ins	INS	ENST00000404286.2	37	c.597_598insT																																																																																					0.683	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		12	14						12	14	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32098603	32098604	+	Frame_Shift_Ins	INS	-	-	ACAA			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr5:32098603_32098604insACAA	ENST00000438447.1	+	23	8469_8470	c.8081_8082insACAA	c.(8080-8085)gcacagfs	p.-2695fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.-2695fs			O15018	PDZD2_HUMAN	PDZ domain containing 2						cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTGCACCAGGCACAGCTGCACA	0.594																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(8080-8082)gcafs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32098603_32098604insACAA	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		Exception_encountered	5.37:g.32098603_32098604insACAA	ENSP00000402033:p.Gln2695fs					PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.A2694fs	p.A2694fs			O15018	PDZD2_HUMAN			23	8469_8470	+			2694			PDZ 5.		Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.8081_8082insACAA	CCDS34137.1																																																																																				0.594	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			27	41						27	41	---	---	---	---
CAPN11	11131	broad.mit.edu	37	6	44148689	44148702	+	Frame_Shift_Del	DEL	GGGCTTTGGCCTGG	GGGCTTTGGCCTGG	-	rs539652743		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr6:44148689_44148702delGGGCTTTGGCCTGG	ENST00000398776.1	+	18	1862_1875	c.1824_1837delGGGCTTTGGCCTGG	c.(1822-1839)aagggctttggcctggatfs	p.GFGLD609fs	CAPN11_ENST00000542245.1_Frame_Shift_Del_p.GFGLD609fs	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	609	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAAGACCAAGGGCTTTGGCCTGGATGCTTGCCG	0.57																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1822-1839)aaatfs		calpain 11																																				SO:0001589	frameshift_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44148689_44148702delGGGCTTTGGCCTGG	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1824_1837delGGGCTTTGGCCTGG	6.37:g.44148689_44148702delGGGCTTTGGCCTGG	ENSP00000381758:p.Gly609fs					CAPN11_ENST00000398776.1_Frame_Shift_Del_p.KGFGLD608fs	p.KGFGLD608fs			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		18	1862_1875	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		608			Domain IV.		B2RA64|Q5T3G1|Q8N4R5	Frame_Shift_Del	DEL	ENST00000398776.1	37	c.1824_1837delGGGCTTTGGCCTGG	CCDS47436.1																																																																																				0.570	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			39	223						39	223	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113569097	113569119	+	Frame_Shift_Del	DEL	TGGTGCTACCAGCAAAGTGGCCT	TGGTGCTACCAGCAAAGTGGCCT	-	rs145750770|rs201327971|rs202053990|rs143731892	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr8:113569097_113569119delTGGTGCTACCAGCAAAGTGGCCT	ENST00000297405.5	-	25	4351_4373	c.4107_4129delAGGCCACTTTGCTGGTAGCACCA	c.(4105-4131)caaggccactttgctggtagcaccatcfs	p.QGHFAGSTI1369fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.QGHFAGSTI1329fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.QGHFAGSTI1369fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.QGHFAGSTI1265fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1369	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q1329H(2)|p.Q1369H(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATAAATGATGGTGCTACCAGCAAAGTGGCCTTGGTCACTGA	0.453										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			4	Substitution - Missense(4)	p.Q1329H(2)|p.Q1369H(2)	lung(4)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4105-4131)catcfs		CUB and Sushi multiple domains 3																																				SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113569097_113569119delTGGTGCTACCAGCAAAGTGGCCT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4107_4129delAGGCCACTTTGCTGGTAGCACCA	8.37:g.113569097_113569119delTGGTGCTACCAGCAAAGTGGCCT	ENSP00000297405:p.Gln1369fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Frame_Shift_Del_p.QGHFAGSTI1265fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.QGHFAGSTI1369fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.QGHFAGSTI1329fs	p.QGHFAGSTI1369fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			25	4351_4373	-			1369			Sushi 7.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.4107_4129delAGGCCACTTTGCTGGTAGCACCA	CCDS6315.1																																																																																				0.453	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	45						11	45	---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27390526	27390527	+	Frame_Shift_Ins	INS	-	-	AGAAATCA			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr11:27390526_27390527insAGAAATCA	ENST00000379214.4	-	18	2186_2187	c.1743_1744insTGATTTCT	c.(1741-1746)tctgtgfs	p.V582fs	LGR4_ENST00000389858.4_Frame_Shift_Ins_p.V558fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	582					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAGTTAGACACAGAAATCAAGC	0.386																																						ENST00000379214.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1741-1746)tctgtcfs		leucine-rich repeat containing G protein-coupled receptor 4																																				SO:0001589	frameshift_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390526_27390527insAGAAATCA	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1736_1743dupTGATTTCT	11.37:g.27390527_27390534dupAGAAATCA	ENSP00000368516:p.Val582fs					LGR4_ENST00000389858.4_Frame_Shift_Ins_p.V558fs	p.V582fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN			18	2186_2187	-			582					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Frame_Shift_Ins	INS	ENST00000379214.4	37	c.1743_1744insTGATTTCT	CCDS31449.1																																																																																				0.386	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		13	49						13	49	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23450500	23450506	+	Frame_Shift_Del	DEL	GCATCCG	GCATCCG	-	rs373486750		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr14:23450500_23450506delGCATCCG	ENST00000262713.2	-	1	1345_1351	c.970_976delCGGATGC	c.(970-978)cggatgcggfs	p.RMR324fs	RP11-298I3.4_ENST00000555294.1_RNA|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.RMR324fs|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	324	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										TCTGGCTCCCGCATCCGGGCCCGGGCG	0.681																																						ENST00000262713.2																			0											c.(970-978)ggfs		ajuba LIM protein																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450500_23450506delGCATCCG	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.970_976delCGGATGC	14.37:g.23450500_23450506delGCATCCG	ENSP00000262713:p.Arg324fs					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.RMR324fs	p.RMR324fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	1345_1351	-			324			PreLIM.		A8MX18|D3DS37	Frame_Shift_Del	DEL	ENST00000262713.2	37	c.970_976delCGGATGC	CCDS9581.1																																																																																				0.681	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			7	44						7	44	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25415736	25415736	+	RNA	DEL	C	C	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:25415736delC	ENST00000441592.2	+	0	0				SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA|SNORD115-1_ENST00000364961.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CGGCCAGTGTCCGTCTGCCAG	0.622																																						ENST00000549301.1																			0																																																			104472715							g.chr15:25415736delC			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25415736delC						SNHG14_ENST00000553149.1_RNA								0	250	+									RNA	DEL	ENST00000441592.2	37																																																																																						0.622	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			8	46						8	46	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28446658	28446659	+	Frame_Shift_Ins	INS	-	-	T	rs61756159|rs146159039	byFrequency	TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr15:28446658_28446659insT	ENST00000261609.7	-	48	7767_7768	c.7659_7660insA	c.(7657-7662)aaacgafs	p.R2554fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R2554*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAATCAGCTCGTTTTTTGTACG	0.376																																						ENST00000261609.7																			1	Substitution - Nonsense(1)	p.R2554*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(7657-7662)aagagcfs		HECT and RLD domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28446658_28446659insT	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7660dupA	15.37:g.28446664_28446664dupT	ENSP00000261609:p.Arg2554fs						p.S2554fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	48	7767_7768	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2554						Frame_Shift_Ins	INS	ENST00000261609.7	37	c.7659_7660insA	CCDS10021.1																																																																																				0.376	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		43	68						43	68	---	---	---	---
VASN	114990	broad.mit.edu	37	16	4432380	4432381	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:4432380_4432381insA	ENST00000304735.3	+	2	1657_1658	c.1502_1503insA	c.(1501-1506)ctatcgfs	p.S502fs	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	502	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						TATCGCAACCTATCGGGCCCTG	0.668																																						ENST00000304735.3																			0				breast(1)|lung(3)|prostate(1)|skin(1)	6						c.(1501-1503)ctcfs		vasorin																																				SO:0001589	frameshift_variant	114990					extracellular region|integral to membrane		g.chr16:4432380_4432381insA	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1503dupA	16.37:g.4432381_4432381dupA	ENSP00000306864:p.Ser502fs					CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron	p.L501fs	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN			2	1657_1658	+			501			Fibronectin type-III.		Q6UXL4|Q6UXL5|Q96CX1	Frame_Shift_Ins	INS	ENST00000304735.3	37	c.1502_1503insA	CCDS10514.1																																																																																				0.668	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1	NM_138440		11	18						11	18	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72822585	72822586	+	Frame_Shift_Ins	INS	-	-	G	rs141461385		TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr16:72822585_72822586insG	ENST00000268489.5	-	10	10261_10262	c.9589_9590insC	c.(9589-9591)cagfs	p.Q3197fs	RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.Q2283fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3197	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ctgctgctgctgGGGGGGTTGC	0.658																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9589-9591)gcafs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822585_72822586insG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9590dupC	16.37:g.72822592_72822592dupG	ENSP00000268489:p.Gln3197fs					ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.A2283fs	p.A3197fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10261_10262	-		Ovarian(137;0.13)	3197			Poly-Gln.		D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.9589_9590insC	CCDS10908.1																																																																																				0.658	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		37	134						37	134	---	---	---	---
MYBBP1A	10514	broad.mit.edu	37	17	4447915	4447915	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:4447915delC	ENST00000254718.4	-	19	2814	c.2508delG	c.(2506-2508)gtgfs	p.V836fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.V836fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	836					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GCTGCTTGGTCACTAGCACCT	0.692																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(2506-2508)gtfs		MYB binding protein (P160) 1a							14.0	12.0	13.0					17																	4447915		2189	4291	6480	SO:0001589	frameshift_variant	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4447915delC	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.2508delG	17.37:g.4447915delC	ENSP00000254718:p.Val836fs					MYBBP1A_ENST00000381556.2_Frame_Shift_Del_p.V836fs	p.V836fs			Q9BQG0	MBB1A_HUMAN			19	2814	-			836					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Frame_Shift_Del	DEL	ENST00000254718.4	37	c.2508delG	CCDS11046.1																																																																																				0.692	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577115	7577116	+	In_Frame_Ins	INS	-	-	AAC			TCGA-HD-7753-01A-11D-2078-08	TCGA-HD-7753-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dc33525-6f57-4b12-9b72-c9c845296ae3	0ca58135-303a-4e85-896e-7f7c75481e42	g.chr17:7577115_7577116insAAC	ENST00000269305.4	-	8	1011_1012	c.822_823insGTT	c.(820-825)gtttgt>gttGTTtgt	p.274_275insV	TP53_ENST00000420246.2_In_Frame_Ins_p.274_275insV|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_In_Frame_Ins_p.274_275insV|TP53_ENST00000359597.4_In_Frame_Ins_p.274_275insV|TP53_ENST00000445888.2_In_Frame_Ins_p.274_275insV|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.|V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C275G(7)|p.C275R(7)|p.V274V(3)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGACAGGCACAAACACGCACCT	0.55		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		39	Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Substitution - coding silent(3)|Insertion - Frameshift(2)|Unknown(2)	p.0?(8)|p.C275G(7)|p.C275R(7)|p.V274V(3)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	bone(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|breast(4)|upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|oesophagus(2)|peritoneum(1)|skin(1)|lung(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(820-825)gtgtgc>gtGTTgtgc	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001652	inframe_insertion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577115_7577116insAAC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.820_822dupGTT	17.37:g.7577116_7577118dupAAC	ENSP00000269305:p.Val274_Val274dup	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_In_Frame_Ins_p.274_275VC>VLC|TP53_ENST00000455263.2_In_Frame_Ins_p.274_275VC>VLC|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_In_Frame_Ins_p.274_275VC>VLC|TP53_ENST00000359597.4_In_Frame_Ins_p.274_275VC>VLC	p.274_275VC>VLC	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	954_955	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	274		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Ins	INS	ENST00000269305.4	37	c.822_823insGTT	CCDS11118.1																																																																																				0.550	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	29						16	29	---	---	---	---
