#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
RAB15	376267	broad.mit.edu	37	14	65417801	65417801	+	Silent	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr14:65417801G>A	ENST00000533601.2	-	4	652	c.315C>T	c.(313-315)gaC>gaT	p.D105D	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Silent_p.D59D|RAB15_ENST00000267512.5_Silent_p.D105D|CHURC1-FNTB_ENST00000549987.1_Intron|RAB15_ENST00000436278.2_Silent_p.D59D			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	105					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CCTCATCCACGTCACTGACCC	0.537																																						ENST00000533601.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(313-315)gaC>gaT		RAB15, member RAS oncogene family							70.0	66.0	68.0					14																	65417801		2203	4300	6503	SO:0001819	synonymous_variant	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65417801G>A	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.315C>T	14.37:g.65417801G>A						CHURC1-FNTB_ENST00000542227.1_Intron|RAB15_ENST00000267512.5_Silent_p.D105D|RAB15_ENST00000426039.3_Silent_p.D59D|RAB15_ENST00000436278.2_Silent_p.D59D|CHURC1-FNTB_ENST00000447296.2_Intron	p.D105D			P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	4	652	-			105					G5EMR7|Q86TX7|Q8IW89	Silent	SNP	ENST00000533601.2	37	c.315C>T																																																																																					0.537	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		7	63	0	0	0	1	0	7	63				
NOS1	4842	broad.mit.edu	37	12	117657907	117657907	+	Silent	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:117657907G>A	ENST00000338101.4	-	27	4249	c.4245C>T	c.(4243-4245)gaC>gaT	p.D1415D	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.D1381D			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.D1381D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		ATACGCCGGCGTCCTCTGCCG	0.577																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			1	Substitution - coding silent(1)	p.D1381D(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4141-4143)gaC>gaT		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						96.0	108.0	104.0					12																	117657907		2143	4253	6396	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117657907G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4245C>T	12.37:g.117657907G>A						NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.D1415D	p.D1381D	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	27	4828	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1381						Silent	SNP	ENST00000338101.4	37	c.4143C>T	CCDS55890.1																																																																																				0.577	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			29	72	0	0	0	1	0	29	72				
NEK8	284086	broad.mit.edu	37	17	27062354	27062354	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:27062354G>A	ENST00000268766.6	+	4	617	c.583G>A	c.(583-585)Gag>Aag	p.E195K	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGTCCTCTACGAGCTGGCCAG	0.602																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(583-585)Gag>Aag		NIMA-related kinase 8							43.0	41.0	41.0					17																	27062354		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27062354G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.583G>A	17.37:g.27062354G>A	ENSP00000268766:p.Glu195Lys					NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	p.E195K	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			4	617	+	Lung NSC(42;0.0158)		195			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.583G>A	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	37	6.319888	0.97471	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.36878	1.23;1.23	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67915	0.2944	M	0.92077	3.27	0.80722	D	1	D	0.65815	0.995	P	0.60473	0.875	T	0.76132	-0.3071	10	0.87932	D	0	.	18.8895	0.92392	0.0:0.0:1.0:0.0	.	195	Q86SG6	NEK8_HUMAN	K	195	ENSP00000465859:E195K;ENSP00000268766:E195K	ENSP00000268766:E195K	E	+	1	0	NEK8	24086481	1.000000	0.71417	0.996000	0.52242	0.795000	0.44927	9.622000	0.98378	2.704000	0.92352	0.549000	0.68633	GAG		0.602	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			7	16	0	0	0	1	0	7	16				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	47	0	0	0	1	0	4	47				
ETV3L	440695	broad.mit.edu	37	1	157062700	157062700	+	Missense_Mutation	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:157062700C>T	ENST00000454449.2	-	5	1111	c.827G>A	c.(826-828)aGc>aAc	p.S276N		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	276	Pro-rich.				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCCTGGGAGGCTCCTAGGTCC	0.642																																						ENST00000454449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(826-828)aGc>aAc		ets variant 3-like							24.0	29.0	27.0					1																	157062700		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062700C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.827G>A	1.37:g.157062700C>T	ENSP00000430271:p.Ser276Asn						p.S276N	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			5	1111	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	276			Pro-rich.			Missense_Mutation	SNP	ENST00000454449.2	37	c.827G>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	6.380	0.438136	0.12104	.	.	ENSG00000253831	ENST00000454449	T	0.33865	1.39	3.69	2.68	0.31781	.	.	.	.	.	T	0.07324	0.0185	N	0.19112	0.55	0.09310	N	1	B	0.23854	0.092	B	0.18561	0.022	T	0.27297	-1.0078	9	0.17369	T	0.5	.	5.557	0.17121	0.24:0.5597:0.2003:0.0	.	276	Q6ZN32	ETV3L_HUMAN	N	276	ENSP00000430271:S276N	ENSP00000430271:S276N	S	-	2	0	ETV3L	155329324	0.007000	0.16637	0.002000	0.10522	0.022000	0.10575	1.277000	0.33167	1.887000	0.54652	0.491000	0.48974	AGC		0.642	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		12	21	0	0	0	1	0	12	21				
IPO9	55705	broad.mit.edu	37	1	201822199	201822199	+	Missense_Mutation	SNP	A	A	G			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr1:201822199A>G	ENST00000361565.4	+	6	733	c.664A>G	c.(664-666)Atc>Gtc	p.I222V	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	222					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TGCCCATATGATCTGTAACAT	0.438																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(664-666)Atc>Gtc		importin 9							217.0	204.0	208.0					1																	201822199		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201822199A>G	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.664A>G	1.37:g.201822199A>G	ENSP00000354742:p.Ile222Val					IPO9_ENST00000464348.1_3'UTR	p.I222V	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			6	733	+			222					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.664A>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598912	0.66332	.	.	ENSG00000198700	ENST00000361565	T	0.68181	-0.31	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56949	0.2020	L	0.45422	1.42	0.80722	D	1	P	0.39116	0.66	B	0.35971	0.215	T	0.56141	-0.8028	10	0.25106	T	0.35	-10.324	13.816	0.63292	1.0:0.0:0.0:0.0	.	222	Q96P70	IPO9_HUMAN	V	222	ENSP00000354742:I222V	ENSP00000354742:I222V	I	+	1	0	IPO9	200088822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.849000	0.69465	2.162000	0.67917	0.455000	0.32223	ATC		0.438	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		5	182	0	0	0	1	0	5	182				
INTS9	55756	broad.mit.edu	37	8	28692856	28692856	+	Silent	SNP	C	C	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:28692856C>A	ENST00000521022.1	-	6	522	c.441G>T	c.(439-441)gtG>gtT	p.V147V	INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000397363.4_Silent_p.V41V|INTS9_ENST00000416984.2_Silent_p.V126V	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	147					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GAGCCTTTGGCACTCTTTCAA	0.443																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(376-378)gtG>gtT		integrator complex subunit 9							109.0	98.0	102.0					8																	28692856		2203	4300	6503	SO:0001819	synonymous_variant	55756				snRNA processing	integrator complex	protein binding	g.chr8:28692856C>A	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.441G>T	8.37:g.28692856C>A						INTS9_ENST00000521777.1_Silent_p.V123V|INTS9_ENST00000397363.4_Silent_p.V41V|INTS9_ENST00000521022.1_Silent_p.V147V	p.V126V	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	5	737	-		Ovarian(32;0.0439)	147					B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	ENST00000521022.1	37	c.378G>T	CCDS34873.1																																																																																				0.443	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		3	37	1	0	1	1	1	3	37				
CSDC2	27254	broad.mit.edu	37	22	41969756	41969756	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr22:41969756G>A	ENST00000306149.7	+	3	818	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	92	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						GAACGGGTCCGAGGACATCTT	0.607																																					NSCLC(181;294 2110 12667 14717 31090)	ENST00000306149.7																			0				prostate(2)|upper_aerodigestive_tract(1)	3						c.(274-276)Gag>Aag		cold shock domain containing C2, RNA binding							130.0	111.0	117.0					22																	41969756		2203	4300	6503	SO:0001583	missense	27254				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	g.chr22:41969756G>A	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.274G>A	22.37:g.41969756G>A	ENSP00000302485:p.Glu92Lys						p.E92K	NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN			3	818	+			92			CSD.		Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	c.274G>A	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809793	0.70797	.	.	ENSG00000172346	ENST00000306149;ENST00000460790	.	.	.	5.24	5.24	0.73138	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	N	0.17379	0.485	0.80722	D	1	D	0.55385	0.971	P	0.51324	0.666	T	0.37526	-0.9702	9	0.19590	T	0.45	.	18.8376	0.92169	0.0:0.0:1.0:0.0	.	92	Q9Y534	CSDC2_HUMAN	K	92;75	.	ENSP00000302485:E92K	E	+	1	0	CSDC2	40299702	1.000000	0.71417	0.942000	0.38095	0.916000	0.54674	9.764000	0.98949	2.451000	0.82905	0.555000	0.69702	GAG		0.607	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460		13	24	0	0	0	1	0	13	24				
CCKBR	887	broad.mit.edu	37	11	6292291	6292291	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:6292291G>A	ENST00000334619.2	+	5	1055	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	CCKBR_ENST00000525462.1_Missense_Mutation_p.E357K|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.E204K	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	288				E -> K (in Ref. 5; AAB30766). {ECO:0000305}.	cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGCGGTTGGCGAAGACAGCGA	0.677																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	GRCh37	CM972902	CCKBR	M		c.(1069-1071)Gaa>Aaa		cholecystokinin B receptor	Pentagastrin(DB00183)						60.0	60.0	60.0					11																	6292291		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292291G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.862G>A	11.37:g.6292291G>A	ENSP00000335544:p.Glu288Lys					CCKBR_ENST00000532715.1_Missense_Mutation_p.E204K|CCKBR_ENST00000334619.2_Missense_Mutation_p.E288K|CCKBR_ENST00000532396.1_3'UTR	p.E357K			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	1072	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	288					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.1069G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025748	0.35701	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.75589	0.34;-0.95;0.27	4.99	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.305484	0.32952	N	0.005449	T	0.63319	0.2501	N	0.25485	0.75	0.40590	D	0.981472	D;B;B	0.52996	0.957;0.092;0.134	B;B;B	0.43508	0.422;0.024;0.041	T	0.64689	-0.6348	10	0.30078	T	0.28	.	15.3846	0.74687	0.0:0.2801:0.7199:0.0	.	357;222;288	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	K	288;204;357	ENSP00000335544:E288K;ENSP00000432079:E204K;ENSP00000435534:E357K	ENSP00000335544:E288K	E	+	1	0	CCKBR	6248867	1.000000	0.71417	0.532000	0.27989	0.228000	0.25075	4.671000	0.61590	1.308000	0.44962	0.655000	0.94253	GAA		0.677	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		4	90	0	0	0	1	0	4	90				
DIO3	1735	broad.mit.edu	37	14	102027947	102027947	+	Silent	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr14:102027947C>T	ENST00000510508.4	+	1	260	c.114C>T	c.(112-114)ctC>ctT	p.L38L	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Silent_p.L12L			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	38					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCTTGAGGCTCTGCGCCCAGA	0.657																																						ENST00000510508.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(112-114)ctC>ctT		deiodinase, iodothyronine, type III							30.0	34.0	33.0					14																	102027947		2152	4252	6404	SO:0001819	synonymous_variant	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102027947C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.114C>T	14.37:g.102027947C>T						DIO3_ENST00000359323.3_Silent_p.L12L	p.L38L			P55073	IOD3_HUMAN			1	260	+		all_neural(303;0.185)	12					G3XAM0|Q8WVN5	Silent	SNP	ENST00000510508.4	37	c.114C>T	CCDS41992.2																																																																																				0.657	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		10	25	0	0	0	1	0	10	25				
SLC23A3	151295	broad.mit.edu	37	2	220028152	220028152	+	Silent	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:220028152G>A	ENST00000409878.3	-	10	1431	c.1399C>T	c.(1399-1401)Ctg>Ttg	p.L467L	SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000295738.7_Silent_p.L350L|NHEJ1_ENST00000356853.5_5'Flank|SLC23A3_ENST00000455516.2_Silent_p.L475L	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	467					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCTTGGCAGCAGCAAGGCC	0.527																																						ENST00000455516.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11						c.(1423-1425)Ctg>Ttg		solute carrier family 23, member 3							136.0	141.0	139.0					2																	220028152		1947	4158	6105	SO:0001819	synonymous_variant	151295				transmembrane transport	integral to membrane	protein binding|transporter activity	g.chr2:220028152G>A	BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1399C>T	2.37:g.220028152G>A						SLC23A3_ENST00000409878.3_Silent_p.L467L|SLC23A3_ENST00000295738.7_Silent_p.L350L|SLC23A3_ENST00000396775.3_3'UTR	p.L475L	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1470	-		Renal(207;0.0474)	467					B7Z512|Q2PYN6|Q96NA6	Silent	SNP	ENST00000409878.3	37	c.1423C>T	CCDS46518.1																																																																																				0.527	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336331.2	NM_144712		4	144	0	0	0	1	0	4	144				
OR51M1	390059	broad.mit.edu	37	11	5410912	5410912	+	Missense_Mutation	SNP	G	G	A	rs202231256	byFrequency	TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:5410912G>A	ENST00000328611.3	+	1	306	c.284G>A	c.(283-285)gGg>gAg	p.G95E	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	95					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCACTATGGGGATCTTCTGG	0.507																																						ENST00000328611.3																			0				NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30						c.(283-285)gGg>gAg		olfactory receptor, family 51, subfamily M, member 1							163.0	151.0	155.0					11																	5410912		2008	4199	6207	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410912G>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.284G>A	11.37:g.5410912G>A	ENSP00000333196:p.Gly95Glu					HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.G95E	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	306	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	95					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.284G>A	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788860	0.31685	.	.	ENSG00000184698	ENST00000328611	T	0.04406	3.63	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34291	U	0.004087	T	0.10852	0.0265	L	0.58669	1.825	0.09310	N	1	P	0.48089	0.905	P	0.52598	0.703	T	0.04481	-1.0948	10	0.66056	D	0.02	.	8.9659	0.35877	0.0827:0.1503:0.7671:0.0	.	84	Q9H341	O51M1_HUMAN	E	95	ENSP00000333196:G95E	ENSP00000333196:G95E	G	+	2	0	OR51M1	5367488	0.005000	0.15991	0.668000	0.29813	0.063000	0.16089	1.523000	0.35932	1.403000	0.46800	0.650000	0.86243	GGG		0.507	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		35	81	0	0	0	1	0	35	81				
CXCL1	2919	broad.mit.edu	37	4	74735480	74735480	+	Silent	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr4:74735480C>T	ENST00000395761.3	+	2	262	c.195C>T	c.(193-195)ccC>ccT	p.P65P	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	65					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGAAGTCCCCCGGACCCCACT	0.652																																						ENST00000395761.3																			0				lung(2)	2						c.(193-195)ccC>ccT		chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)							86.0	104.0	98.0					4																	74735480		2203	4300	6503	SO:0001819	synonymous_variant	2919				actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	g.chr4:74735480C>T	J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"""Endogenous ligands"""	4602	protein-coding gene	gene with protein product		155730	"""GRO1 oncogene (melanoma growth stimulating activity, alpha)"", ""fibroblast secretory protein"""	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.195C>T	4.37:g.74735480C>T						CXCL1_ENST00000509101.1_3'UTR	p.P65P	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		2	262	+	Breast(15;0.00102)		65					Q9UCR7	Silent	SNP	ENST00000395761.3	37	c.195C>T	CCDS47074.1																																																																																				0.652	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362734.1			37	68	0	0	0	1	0	37	68				
NFKBID	84807	broad.mit.edu	37	19	36381296	36381296	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr19:36381296G>A	ENST00000396901.1	-	10	1276	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	NFKBID_ENST00000352614.2_Missense_Mutation_p.R387W|NFKBID_ENST00000340950.2_Missense_Mutation_p.R72W|NFKBID_ENST00000606253.1_Missense_Mutation_p.R235W	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	235					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ACAAAGGTCCGCAGGTCTCCC	0.617																																						ENST00000396901.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						c.(703-705)Cgg>Tgg		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta							56.0	61.0	59.0					19																	36381296		1975	4149	6124	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36381296G>A	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.703C>T	19.37:g.36381296G>A	ENSP00000380109:p.Arg235Trp					NFKBID_ENST00000340950.2_Missense_Mutation_p.R72W|NFKBID_ENST00000352614.2_Missense_Mutation_p.R387W|NFKBID_ENST00000606253.1_Missense_Mutation_p.R235W	p.R235W	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN			10	1276	-			235					Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.703C>T	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592018	0.66219	.	.	ENSG00000167604	ENST00000352614;ENST00000396901;ENST00000340950	T;T;T	0.65364	-0.15;-0.15;0.61	4.47	2.11	0.27256	Ankyrin repeat-containing domain (4);	0.145104	0.45606	D	0.000343	T	0.73048	0.3537	M	0.65677	2.01	0.32518	N	0.536686	D;D;D	0.89917	0.993;0.994;1.0	P;P;D	0.67382	0.555;0.683;0.951	T	0.79065	-0.1956	10	0.66056	D	0.02	-12.7797	11.5199	0.50545	0.0:0.0:0.6823:0.3177	.	387;235;72	Q8NI38-2;Q8NI38;Q8NI38-3	.;IKBD_HUMAN;.	W	387;235;72	ENSP00000252985:R387W;ENSP00000380109:R235W;ENSP00000343093:R72W	ENSP00000343093:R72W	R	-	1	2	NFKBID	41073136	0.551000	0.26497	1.000000	0.80357	0.964000	0.63967	0.649000	0.24843	0.974000	0.38366	0.462000	0.41574	CGG		0.617	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		7	40	0	0	0	1	0	7	40				
LGSN	51557	broad.mit.edu	37	6	63991021	63991021	+	Silent	SNP	G	G	A	rs137949367		TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr6:63991021G>A	ENST00000370657.4	-	4	468	c.435C>T	c.(433-435)agC>agT	p.S145S	LGSN_ENST00000370658.5_Silent_p.S145S			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	145					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGACTATGTCGCTATTAAAAC	0.423																																						ENST00000370658.5																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(433-435)agC>agT		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)	G	,	0,4406		0,0,2203	135.0	128.0	131.0		435,435	-2.8	0.8	6	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LGSN	NM_001143940.1,NM_016571.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	145/209,145/510	63991021	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63991021G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.435C>T	6.37:g.63991021G>A						LGSN_ENST00000370657.4_Silent_p.S145S	p.S145S	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN			4	468	-			145					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.435C>T	CCDS4964.1																																																																																				0.423	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		21	65	0	0	0	1	0	21	65				
FN1	2335	broad.mit.edu	37	2	216269132	216269132	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:216269132G>A	ENST00000359671.1	-	20	3498	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000354785.4_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000357867.4_Missense_Mutation_p.A1078V			P02751	FINC_HUMAN	fibronectin 1	1078	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GACTCCAGTGGCTTTGGGGCT	0.433																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(3232-3234)gCc>gTc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						94.0	91.0	92.0					2																	216269132		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216269132G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3233C>T	2.37:g.216269132G>A	ENSP00000352696:p.Ala1078Val					FN1_ENST00000446046.1_Missense_Mutation_p.A1078V|FN1_ENST00000443816.1_Missense_Mutation_p.A1078V|FN1_ENST00000432072.2_Missense_Mutation_p.A1078V|FN1_ENST00000421182.1_Missense_Mutation_p.A1078V|FN1_ENST00000323926.6_Missense_Mutation_p.A1078V|FN1_ENST00000359671.1_Missense_Mutation_p.A1078V|FN1_ENST00000357867.4_Missense_Mutation_p.A1078V|FN1_ENST00000357009.2_Missense_Mutation_p.A1078V|FN1_ENST00000356005.4_Missense_Mutation_p.A1078V|FN1_ENST00000346544.3_Missense_Mutation_p.A1078V|FN1_ENST00000345488.5_Missense_Mutation_p.A1078V|FN1_ENST00000336916.4_Missense_Mutation_p.A1078V	p.A1078V			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	20	3602	-		Renal(323;0.127)	1078			Fibronectin type-III 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.3233C>T		.	.	.	.	.	.	.	.	.	.	G	10.74	1.434468	0.25813	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;2.02;0.58;0.58;0.58;0.58;0.58	5.83	-4.91	0.03085	.	1.064140	0.07298	N	0.873544	T	0.27134	0.0665	N	0.11724	0.165	0.21325	N	0.999729	B;B;B;B;B;B;B;B;B;B	0.19935	0.005;0.0;0.04;0.0;0.001;0.0;0.002;0.001;0.0;0.001	B;B;B;B;B;B;B;B;B;B	0.21360	0.012;0.002;0.034;0.003;0.012;0.001;0.007;0.007;0.003;0.011	T	0.31138	-0.9954	10	0.09843	T	0.71	.	8.3336	0.32202	0.5623:0.0:0.2994:0.1384	.	1078;1078;1078;1078;1078;1078;1078;1078;1078;1078	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	V	1078	ENSP00000394423:A1078V;ENSP00000323534:A1078V;ENSP00000338200:A1078V;ENSP00000350534:A1078V;ENSP00000346839:A1078V;ENSP00000352696:A1078V;ENSP00000265312:A1078V;ENSP00000273049:A1078V;ENSP00000349509:A1078V;ENSP00000410422:A1078V;ENSP00000415018:A1078V;ENSP00000399538:A1078V;ENSP00000348285:A1078V	ENSP00000265313:A1078V	A	-	2	0	FN1	215977377	0.136000	0.22515	0.878000	0.34440	0.934000	0.57294	-0.231000	0.09069	-0.752000	0.04728	-0.982000	0.02568	GCC		0.433	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		6	87	0	0	0	1	0	6	87				
SLIT3	6586	broad.mit.edu	37	5	168093667	168093667	+	Missense_Mutation	SNP	C	C	T	rs61735416		TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr5:168093667C>T	ENST00000519560.1	-	36	4783	c.4364G>A	c.(4363-4365)cGa>cAa	p.R1455Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R1462Q|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1455	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATCACCTCTCGGACTACTTG	0.597																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4363-4365)cGa>cAa		slit homolog 3 (Drosophila)							72.0	70.0	70.0					5																	168093667		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168093667C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4364G>A	5.37:g.168093667C>T	ENSP00000430333:p.Arg1455Gln					CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1462Q	p.R1455Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	4783	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1455			CTCK.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4364G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147251	0.94603	.	.	ENSG00000184347	ENST00000519560;ENST00000332966	T;T	0.77877	-1.13;-1.11	5.08	5.08	0.68730	Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88610	0.6483	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.89731	0.3926	10	0.59425	D	0.04	.	18.4917	0.90851	0.0:1.0:0.0:0.0	.	1455	O75094	SLIT3_HUMAN	Q	1455;1462	ENSP00000430333:R1455Q;ENSP00000332164:R1462Q	ENSP00000332164:R1462Q	R	-	2	0	SLIT3	168026245	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	7.726000	0.84824	2.362000	0.80069	0.555000	0.69702	CGA		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		9	38	0	0	0	1	0	9	38				
FBXO16	157574	broad.mit.edu	37	8	28304692	28304692	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:28304692G>A	ENST00000380254.2	-	7	987	c.839C>T	c.(838-840)tCa>tTa	p.S280L	FBXO16_ENST00000346498.2_Missense_Mutation_p.S268L|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000518734.1_Missense_Mutation_p.S268L	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	280										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		ACTTACCATTGATTGTGCTTT	0.318																																						ENST00000380254.2																			0				large_intestine(2)|ovary(1)	3						c.(838-840)tCa>tTa		F-box protein 16							209.0	196.0	200.0					8																	28304692		2203	4300	6503	SO:0001583	missense	157574							g.chr8:28304692G>A	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.839C>T	8.37:g.28304692G>A	ENSP00000369604:p.Ser280Leu					FBXO16_ENST00000518734.1_Missense_Mutation_p.S268L|FBXO16_ENST00000346498.2_Missense_Mutation_p.S268L	p.S280L	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	7	987	-		Ovarian(32;2.06e-05)	280					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.839C>T	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981198	0.74474	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734	T;T;T	0.27256	2.04;1.68;2.05	4.87	4.87	0.63330	.	1.020860	0.07880	U	0.969396	T	0.54679	0.1873	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.40421	-0.9564	10	0.87932	D	0	-12.3177	13.8522	0.63504	0.0:0.0:1.0:0.0	.	268;268;280	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	L	280;268;268	ENSP00000369604:S280L;ENSP00000341416:S268L;ENSP00000429687:S268L	ENSP00000341416:S268L	S	-	2	0	FBXO16	28360611	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.412000	0.52679	2.408000	0.81797	0.591000	0.81541	TCA		0.318	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		22	53	0	0	0	1	0	22	53				
HHEX	3087	broad.mit.edu	37	10	94454307	94454307	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454307A>C	ENST00000282728.5	+	4	2394	c.595A>C	c.(595-597)Aac>Cac	p.N199H	HHEX_ENST00000492654.2_Missense_Mutation_p.N27H|HHEX_ENST00000472590.2_Missense_Mutation_p.N27H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	199					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TATTCAGGAGAACCCTCAAAG	0.368																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(595-597)Aac>Cac		hematopoietically expressed homeobox							52.0	55.0	54.0					10																	94454307		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94454307A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.595A>C	10.37:g.94454307A>C	ENSP00000282728:p.Asn199His					HHEX_ENST00000472590.2_Missense_Mutation_p.N27H|HHEX_ENST00000492654.2_Missense_Mutation_p.N27H	p.N199H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			4	2394	+			199					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.595A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019033	0.75275	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91011	-2.77;-1.71;-1.71	5.34	5.34	0.76211	Homeobox (1);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	L	0.34521	1.04	0.47341	D	0.999398	D	0.69078	0.997	D	0.64687	0.928	D	0.92027	0.5630	10	0.48119	T	0.1	-10.8346	15.4877	0.75578	1.0:0.0:0.0:0.0	.	199	Q03014	HHEX_HUMAN	H	199;27;27	ENSP00000282728:N199H;ENSP00000450017:N27H;ENSP00000447953:N27H	ENSP00000282728:N199H	N	+	1	0	HHEX	94444287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.235000	0.78143	2.248000	0.74166	0.533000	0.62120	AAC		0.368	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			11	13	0	0	0	1	0	11	13				
EVC2	132884	broad.mit.edu	37	4	5564760	5564760	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr4:5564760G>A	ENST00000344408.5	-	22	3795	c.3742C>T	c.(3742-3744)Ccc>Tcc	p.P1248S	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000310917.2_Missense_Mutation_p.P1168S	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1248					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCGCCAATGGGCTCCAGTGAC	0.443																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(3502-3504)Ccc>Tcc		Ellis van Creveld syndrome 2							129.0	137.0	134.0					4																	5564760		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5564760G>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3742C>T	4.37:g.5564760G>A	ENSP00000342144:p.Pro1248Ser					EVC2_ENST00000344408.5_Missense_Mutation_p.P1248S|EVC2_ENST00000344938.1_Intron	p.P1168S	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			22	4233	-			1248					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3502C>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	3.654	-0.070859	0.07228	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.72835	-0.68;-0.69	5.02	1.56	0.23342	.	0.299896	0.33161	N	0.005203	T	0.37293	0.0998	N	0.03608	-0.345	0.58432	D	0.999998	B	0.12013	0.005	B	0.08055	0.003	T	0.16988	-1.0384	10	0.06891	T	0.86	-13.8807	6.4107	0.21690	0.1362:0.2379:0.6259:0.0	.	1248	Q86UK5	LBN_HUMAN	S	1168;1248	ENSP00000311683:P1168S;ENSP00000342144:P1248S	ENSP00000311683:P1168S	P	-	1	0	EVC2	5615661	0.408000	0.25360	0.996000	0.52242	0.992000	0.81027	0.214000	0.17541	0.458000	0.26988	0.563000	0.77884	CCC		0.443	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		9	146	0	0	0	1	0	9	146				
MARK2	2011	broad.mit.edu	37	11	63672332	63672332	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:63672332G>A	ENST00000509502.2	+	16	2112	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	MARK2_ENST00000377809.4_Missense_Mutation_p.R584Q|MARK2_ENST00000315032.8_Missense_Mutation_p.R584Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R583Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R529Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R530Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R551Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R529Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R530Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R504Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R496Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R496Q|MARK2_ENST00000402010.2_Missense_Mutation_p.R584Q	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCCAGACCGAACTAACTTC	0.637																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1750-1752)cGa>cAa		MAP/microtubule affinity-regulating kinase 2							70.0	58.0	62.0					11																	63672332		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63672332G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1649G>A	11.37:g.63672332G>A	ENSP00000423974:p.Arg550Gln					MARK2_ENST00000377809.4_Missense_Mutation_p.R584Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R530Q|MARK2_ENST00000509502.2_Missense_Mutation_p.R550Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R504Q|MARK2_ENST00000508192.1_Missense_Mutation_p.R529Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R583Q|MARK2_ENST00000315032.8_Missense_Mutation_p.R584Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R496Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R529Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R551Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R530Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R496Q	p.R584Q	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			16	2330	+			584						Missense_Mutation	SNP	ENST00000509502.2	37	c.1751G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	11.50	1.657041	0.29425	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	4.51	3.58	0.41010	.	0.143577	0.43919	D	0.000508	T	0.30386	0.0763	L	0.46670	1.46	0.45995	D	0.998805	B;P;B;P;P;B	0.51351	0.399;0.944;0.161;0.876;0.679;0.358	B;B;B;B;B;B	0.39503	0.042;0.301;0.131;0.131;0.158;0.062	T	0.12682	-1.0538	10	0.45353	T	0.12	.	13.1186	0.59313	0.0:0.0:0.838:0.162	.	504;550;529;530;584;529	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	584;584;584;530;496;529;530;529;585;550;551;496;504	ENSP00000385751:R584Q;ENSP00000326632:R584Q;ENSP00000367040:R584Q;ENSP00000389184:R530Q;ENSP00000367041:R496Q;ENSP00000425765:R529Q;ENSP00000355091:R530Q;ENSP00000294247:R529Q;ENSP00000423974:R550Q;ENSP00000421075:R551Q;ENSP00000386128:R496Q;ENSP00000415494:R504Q	ENSP00000326632:R584Q	R	+	2	0	MARK2	63428908	1.000000	0.71417	0.999000	0.59377	0.081000	0.17604	6.454000	0.73493	1.238000	0.43771	-0.330000	0.08379	CGA		0.637	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		22	34	0	0	0	1	0	22	34				
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33.0	35.0	34.0					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		3	29	0	0	0	1	0	3	29				
ATXN1	6310	broad.mit.edu	37	6	16328576	16328576	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr6:16328576C>T	ENST00000244769.4	-	0	902				ATXN1_ENST00000436367.1_De_novo_Start_OutOfFrame	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GACTGTTTCACTGTCTGGATG	0.527																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44								ataxin 1							19.0	18.0	18.0					6																	16328576		2086	4118	6204			6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16328576C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.-35G>A	6.37:g.16328576C>T						ATXN1_ENST00000436367.1_De_novo_Start_OutOfFrame		NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			0	902	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)						Q17S02|Q9UJG2|Q9Y4J1	Translation_Start_Site	SNP	ENST00000244769.4	37		CCDS34342.1																																																																																				0.527	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		3	8	0	0	0	1	0	3	8				
AARSD1	80755	broad.mit.edu	37	17	41107892	41107892	+	Missense_Mutation	SNP	T	T	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:41107892T>C	ENST00000427569.2	-	7	796	c.761A>G	c.(760-762)cAt>cGt	p.H254R	AARSD1_ENST00000416949.1_5'Flank|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.H428R	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	254					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TTCAGTTCCATGACTTCTCTC	0.438																																						ENST00000421990.2																			0											c.(1282-1284)cAt>cGt									209.0	200.0	203.0					17																	41107892		2203	4300	6503	SO:0001583	missense	0							g.chr17:41107892T>C	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.761A>G	17.37:g.41107892T>C	ENSP00000400870:p.His254Arg					PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.H428R|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.H367R|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.H337R|AARSD1_ENST00000427569.2_Missense_Mutation_p.H254R	p.H428R	NM_001136042.2	NP_001129514.2					12	1628	-								B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.1283A>G	CCDS58552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.48|18.48	3.633956|3.633956	0.67130|0.67130	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103;ENST00000423601|ENST00000441280	T;T|.	0.42513|.	0.97;0.97|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);|.	0.125797|.	0.53938|.	D|.	0.000042|.	T|T	0.63965|0.63965	0.2556|0.2556	L|L	0.50333|0.50333	1.59|1.59	0.35422|.	D|.	0.793350|.	P;P;P;B|.	0.46706|.	0.815;0.607;0.883;0.182|.	B;B;B;B|.	0.38458|.	0.274;0.177;0.274;0.084|.	T|T	0.66779|0.66779	-0.5837|-0.5837	9|4	0.31617|.	T|.	0.26|.	-16.9889|-16.9889	15.6523|15.6523	0.77108|0.77108	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	428;337;385;254|.	B4DI73;C9J5N1;B3KSP9;Q9BTE6|.	.;.;.;AASD1_HUMAN|.	R|V	367;428;428;254;337;136|260	ENSP00000386621:H428R;ENSP00000409924:H428R|.	ENSP00000353355:H367R|.	H|M	-|-	2|1	0|0	AARSD1|AARSD1	38361418|38361418	1.000000|1.000000	0.71417|0.71417	0.857000|0.857000	0.33713|0.33713	0.992000|0.992000	0.81027|0.81027	7.875000|7.875000	0.87205|0.87205	2.086000|2.086000	0.62901|0.62901	0.459000|0.459000	0.35465|0.35465	CAT|ATG		0.438	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1	NM_001261434		5	155	0	0	0	1	0	5	155				
HHEX	3087	broad.mit.edu	37	10	94454417	94454417	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454417A>C	ENST00000282728.5	+	4	2504	c.705A>C	c.(703-705)caA>caC	p.Q235H	HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H|HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	235					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATAGCTCTCAATGTTCGCCCT	0.438																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(703-705)caA>caC		hematopoietically expressed homeobox							107.0	105.0	106.0					10																	94454417		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94454417A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.705A>C	10.37:g.94454417A>C	ENSP00000282728:p.Gln235His					HHEX_ENST00000472590.2_Missense_Mutation_p.Q63H|HHEX_ENST00000492654.2_Missense_Mutation_p.Q63H	p.Q235H	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			4	2504	+			235					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.705A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676406	0.67928	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91351	-2.83;-1.69;-1.69	5.44	-10.9	0.00192	.	0.470214	0.22060	N	0.065189	D	0.88470	0.6445	L	0.29908	0.895	0.09310	N	0.999992	D	0.61697	0.99	D	0.72982	0.979	D	0.86610	0.1872	10	0.72032	D	0.01	-0.6761	13.8864	0.63710	0.1723:0.0:0.7571:0.0706	.	235	Q03014	HHEX_HUMAN	H	235;63;63	ENSP00000282728:Q235H;ENSP00000450017:Q63H;ENSP00000447953:Q63H	ENSP00000282728:Q235H	Q	+	3	2	HHEX	94444397	0.017000	0.18338	0.009000	0.14445	0.941000	0.58515	-0.734000	0.04893	-1.859000	0.01156	-0.993000	0.02533	CAA		0.438	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			17	27	0	0	0	1	0	17	27				
BTBD3	22903	broad.mit.edu	37	20	11903707	11903707	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr20:11903707G>A	ENST00000405977.1	+	5	1587	c.962G>A	c.(961-963)cGc>cAc	p.R321H	BTBD3_ENST00000399006.2_Missense_Mutation_p.R260H|BTBD3_ENST00000254977.3_Missense_Mutation_p.R260H|BTBD3_ENST00000378226.2_Missense_Mutation_p.R321H	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	321					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R321H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TACTTGATCCGCATACCCACA	0.473																																						ENST00000405977.1																			1	Substitution - Missense(1)	p.R321H(1)	kidney(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(961-963)cGc>cAc		BTB (POZ) domain containing 3							122.0	121.0	121.0					20																	11903707		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11903707G>A	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.962G>A	20.37:g.11903707G>A	ENSP00000384545:p.Arg321His					BTBD3_ENST00000254977.3_Missense_Mutation_p.R260H|BTBD3_ENST00000378226.2_Missense_Mutation_p.R321H|BTBD3_ENST00000399006.2_Missense_Mutation_p.R260H	p.R321H			Q9Y2F9	BTBD3_HUMAN			5	1587	+			321					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.962G>A	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745357	0.89663	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	D;D;D;D	0.84442	-1.82;-1.82;-1.85;-1.85	6.16	6.16	0.99307	BTB/Kelch-associated (1);	0.000000	0.85682	D	0.000000	D	0.92570	0.7640	M	0.83774	2.66	0.80722	D	1	D	0.67145	0.996	P	0.61477	0.889	D	0.92618	0.6105	10	0.87932	D	0	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	321	Q9Y2F9	BTBD3_HUMAN	H	260;260;321;321	ENSP00000254977:R260H;ENSP00000381971:R260H;ENSP00000384545:R321H;ENSP00000367471:R321H	ENSP00000254977:R260H	R	+	2	0	BTBD3	11851707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CGC		0.473	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			4	96	0	0	0	1	0	4	96				
LRRTM1	347730	broad.mit.edu	37	2	80529581	80529581	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:80529581G>A	ENST00000295057.3	-	2	2020	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V	CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	455					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCTGAGGCTGGCTGGGAAACA	0.572										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1363-1365)gCc>gTc		leucine rich repeat transmembrane neuronal 1							103.0	91.0	95.0					2																	80529581		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529581G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1364C>T	2.37:g.80529581G>A	ENSP00000295057:p.Ala455Val	HNSCC(69;0.2)				CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A455V|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron	p.A455V	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	2020	-			455					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1364C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341098	0.81911	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.50277	0.75;0.75	5.18	5.18	0.71444	.	0.000000	0.64402	U	0.000001	T	0.59756	0.2217	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.60012	0.867	T	0.57124	-0.7865	9	.	.	.	.	18.6948	0.91596	0.0:0.0:1.0:0.0	.	455	Q86UE6	LRRT1_HUMAN	V	455	ENSP00000295057:A455V;ENSP00000386646:A455V	.	A	-	2	0	LRRTM1	80383092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.383000	0.81215	0.561000	0.74099	GCC		0.572	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		19	27	0	0	0	1	0	19	27				
TNRC18	84629	broad.mit.edu	37	7	5353440	5353440	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr7:5353440G>A	ENST00000430969.1	-	27	7430	c.7082C>T	c.(7081-7083)cCc>cTc	p.P2361L	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2361L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2361	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGGCTAAGGGGGTACTGGG	0.662																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7081-7083)cCc>cTc		trinucleotide repeat containing 18							22.0	23.0	23.0					7																	5353440		1496	3477	4973	SO:0001583	missense	84629						DNA binding	g.chr7:5353440G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7082C>T	7.37:g.5353440G>A	ENSP00000395538:p.Pro2361Leu					TNRC18_ENST00000430969.1_Missense_Mutation_p.P2361L	p.P2361L			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	7430	-		Ovarian(82;0.142)	2361			Pro-rich.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.7082C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	15.50	2.852905	0.51270	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.14144	2.53;2.55	4.6	4.6	0.57074	.	0.000000	0.32868	N	0.005548	T	0.27313	0.0670	L	0.61218	1.895	0.42544	D	0.993083	D	0.60160	0.987	P	0.54544	0.755	T	0.02661	-1.1127	10	0.62326	D	0.03	.	14.1415	0.65322	0.0:0.0:1.0:0.0	.	2361	O15417	TNC18_HUMAN	L	2361	ENSP00000382452:P2361L;ENSP00000395538:P2361L	ENSP00000382452:P2361L	P	-	2	0	TNRC18	5319966	1.000000	0.71417	0.277000	0.24703	0.902000	0.53008	5.505000	0.66981	2.102000	0.63906	0.462000	0.41574	CCC		0.662	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				10	18	0	0	0	1	0	10	18				
VWA3B	200403	broad.mit.edu	37	2	98844716	98844716	+	Missense_Mutation	SNP	C	C	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:98844716C>A	ENST00000477737.1	+	15	2275	c.2071C>A	c.(2071-2073)Ctg>Atg	p.L691M		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	691										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCACAGTGATCTGGAGAAGAT	0.433																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2071-2073)Ctg>Atg		von Willebrand factor A domain containing 3B							108.0	109.0	108.0					2																	98844716		2003	4166	6169	SO:0001583	missense	200403							g.chr2:98844716C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2071C>A	2.37:g.98844716C>A	ENSP00000417955:p.Leu691Met						p.L691M	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			15	2275	+			691					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.2071C>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.47|13.47	2.248042|2.248042	0.39697|0.39697	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.10477|.	2.87|.	5.71|5.71	4.83|4.83	0.62350|0.62350	.|.	0.247202|.	0.27654|.	N|.	0.018406|.	T|T	0.69869|0.69869	0.3159|0.3159	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.999|.	T|T	0.69371|0.69371	-0.5163|-0.5163	10|5	0.62326|.	D|.	0.03|.	.|.	12.3672|12.3672	0.55234|0.55234	0.0:0.9183:0.0:0.0817|0.0:0.9183:0.0:0.0817	.|.	83;691;691;691|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	M|Y	691|101	ENSP00000417955:L691M|.	ENSP00000417955:L691M|.	L|S	+|+	1|2	2|0	VWA3B|VWA3B	98211148|98211148	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.041000|0.041000	0.13682|0.13682	1.367000|1.367000	0.34204|0.34204	1.410000|1.410000	0.46936|0.46936	0.467000|0.467000	0.42956|0.42956	CTG|TCT		0.433	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		19	44	1	0	8.00594e-06	1	8.33952e-06	19	44				
HHEX	3087	broad.mit.edu	37	10	94454330	94454330	+	Missense_Mutation	SNP	A	A	C			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:94454330A>C	ENST00000282728.5	+	4	2417	c.618A>C	c.(616-618)gaA>gaC	p.E206D	HHEX_ENST00000492654.2_Missense_Mutation_p.E34D|HHEX_ENST00000472590.2_Missense_Mutation_p.E34D	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	206					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATAAAAAAGAAGAACTGGAAA	0.393																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(616-618)gaA>gaC		hematopoietically expressed homeobox							72.0	75.0	74.0					10																	94454330		2203	4300	6503	SO:0001583	missense	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94454330A>C	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.618A>C	10.37:g.94454330A>C	ENSP00000282728:p.Glu206Asp					HHEX_ENST00000472590.2_Missense_Mutation_p.E34D|HHEX_ENST00000492654.2_Missense_Mutation_p.E34D	p.E206D	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			4	2417	+			206					B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	c.618A>C	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345676	0.24426	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.91180	-2.8;-1.69;-1.69	4.93	-5.94	0.02247	.	0.173336	0.49305	N	0.000143	T	0.70631	0.3246	N	0.12746	0.255	0.23984	N	0.996269	B	0.02656	0.0	B	0.01281	0.0	T	0.63047	-0.6724	10	0.17832	T	0.49	-0.859	1.7607	0.02992	0.2779:0.096:0.3335:0.2927	.	206	Q03014	HHEX_HUMAN	D	206;34;34	ENSP00000282728:E206D;ENSP00000450017:E34D;ENSP00000447953:E34D	ENSP00000282728:E206D	E	+	3	2	HHEX	94444310	0.973000	0.33851	0.921000	0.36526	0.992000	0.81027	0.368000	0.20399	-0.926000	0.03770	0.533000	0.62120	GAA		0.393	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			12	20	0	0	0	1	0	12	20				
DNM1P47	100216544	broad.mit.edu	37	15	102304883	102304883	+	RNA	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr15:102304883C>T	ENST00000561463.1	+	0	12929									DNM1 pseudogene 47																		CGCGTGGGAACGAGAAGACAC	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304883C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304883C>T														0	12929	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	7	0	0	0	1	0	7	7				
MTDH	92140	broad.mit.edu	37	8	98712028	98712028	+	Missense_Mutation	SNP	G	G	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr8:98712028G>T	ENST00000336273.3	+	7	1423	c.1095G>T	c.(1093-1095)caG>caT	p.Q365H	MTDH_ENST00000519934.1_Intron	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	365					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			CTGATTATCAGTGGGATGTTA	0.328																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1093-1095)caG>caT		metadherin							143.0	137.0	139.0					8																	98712028		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98712028G>T	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1095G>T	8.37:g.98712028G>T	ENSP00000338235:p.Gln365His					MTDH_ENST00000519934.1_Intron	p.Q365H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		7	1423	+	Breast(36;2.56e-06)		365					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1095G>T	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780053	0.70222	.	.	ENSG00000147649	ENST00000336273;ENST00000521933	T	0.50001	0.76	5.19	5.19	0.71726	.	0.645248	0.16322	N	0.219517	T	0.61085	0.2319	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.60037	-0.7341	10	0.59425	D	0.04	-7.9369	12.7011	0.57034	0.0792:0.0:0.9208:0.0	.	365	Q86UE4	LYRIC_HUMAN	H	365;35	ENSP00000338235:Q365H	ENSP00000338235:Q365H	Q	+	3	2	MTDH	98781204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.740000	0.55082	2.581000	0.87130	0.561000	0.74099	CAG		0.328	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			31	56	1	0	3.78316e-11	1	4.02464e-11	31	56				
SRRM4	84530	broad.mit.edu	37	12	119563255	119563255	+	Silent	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:119563255G>A	ENST00000267260.4	+	7	973	c.585G>A	c.(583-585)tcG>tcA	p.S195S	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	195	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGAGCTCGGAGTCCCGCC	0.627																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(583-585)tcG>tcA		serine/arginine repetitive matrix 4							39.0	50.0	47.0					12																	119563255		2045	4176	6221	SO:0001819	synonymous_variant	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119563255G>A	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.585G>A	12.37:g.119563255G>A						SRRM4_ENST00000537597.1_3'UTR	p.S195S	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			7	973	+			195			Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	ENST00000267260.4	37	c.585G>A	CCDS44994.1																																																																																				0.627	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		13	31	0	0	0	1	0	13	31				
PEG3	5178	broad.mit.edu	37	19	57326531	57326531	+	Silent	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr19:57326531G>A	ENST00000326441.9	-	10	3642	c.3279C>T	c.(3277-3279)gaC>gaT	p.D1093D	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.D967D|PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.D1093D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1093					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTCTTCCATGTCTGAGCCTT	0.522																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3277-3279)gaC>gaT		paternally expressed 3							124.0	118.0	120.0					19																	57326531		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326531G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3279C>T	19.37:g.57326531G>A						PEG3_ENST00000423103.2_Silent_p.D1093D|PEG3_ENST00000598410.1_Silent_p.D969D|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.D967D	p.D1093D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3642	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1093					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.3279C>T	CCDS12948.1																																																																																				0.522	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			41	60	0	0	0	1	0	41	60				
SOCS5	9655	broad.mit.edu	37	2	46985998	46985998	+	Missense_Mutation	SNP	G	G	A	rs377674278		TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr2:46985998G>A	ENST00000306503.5	+	2	501	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.R110Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	110					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGACTTGCACGAAGAGATTCC	0.403																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(328-330)cGa>cAa		suppressor of cytokine signaling 5		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	65.0	63.0	64.0		329,329	3.6	0.1	2		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SOCS5	NM_014011.4,NM_144949.2	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	110/537,110/537	46985998	1,13005	2203	4300	6503	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46985998G>A	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.329G>A	2.37:g.46985998G>A	ENSP00000305133:p.Arg110Gln					SOCS5_ENST00000394861.2_Missense_Mutation_p.R110Q	p.R110Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	501	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	110					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.329G>A	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385431	0.61956	0.0	1.16E-4	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.37752	1.18;1.18	5.4	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	L	0.34521	1.04	0.45108	D	0.99812	D	0.69078	0.997	D	0.67725	0.953	T	0.41431	-0.9509	10	0.72032	D	0.01	-15.9341	11.6361	0.51204	0.1428:0.0:0.8572:0.0	.	110	O75159	SOCS5_HUMAN	Q	110	ENSP00000305133:R110Q;ENSP00000378330:R110Q	ENSP00000305133:R110Q	R	+	2	0	SOCS5	46839502	1.000000	0.71417	0.121000	0.21740	0.997000	0.91878	6.190000	0.72057	0.848000	0.35191	0.655000	0.94253	CGA		0.403	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			16	33	0	0	0	1	0	16	33				
CRTAC1	55118	broad.mit.edu	37	10	99661288	99661288	+	Missense_Mutation	SNP	G	G	A			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:99661288G>A	ENST00000370597.3	-	8	1460	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R369C|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R369C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	369						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GAGGAGCTGCGGTAGGCAATG	0.577																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1105-1107)Cgc>Tgc		cartilage acidic protein 1							129.0	103.0	112.0					10																	99661288		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99661288G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1105C>T	10.37:g.99661288G>A	ENSP00000359629:p.Arg369Cys					CRTAC1_ENST00000370591.2_Missense_Mutation_p.R369C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R369C	p.R369C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	8	1460	-		Colorectal(252;0.24)	369					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1105C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695568	0.68386	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	4.27	3.35	0.38373	.	0.064020	0.64402	D	0.000014	T	0.40423	0.1116	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.60236	0.869;0.854;0.871	T	0.38178	-0.9673	10	0.59425	D	0.04	-15.4033	13.6846	0.62508	0.0:0.0:0.8451:0.1549	.	369;369;265	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	C	265;369;369;361;369	ENSP00000408445:R265C;ENSP00000359629:R369C;ENSP00000298819:R369C;ENSP00000310810:R361C;ENSP00000359623:R369C	ENSP00000298819:R369C	R	-	1	0	CRTAC1	99651278	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.006000	0.57083	0.983000	0.38602	0.462000	0.41574	CGC		0.577	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		10	9	0	0	0	1	0	10	9				
XPC	7508	broad.mit.edu	37	3	14197915	14197915	+	Silent	SNP	C	C	T			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr3:14197915C>T	ENST00000285021.7	-	10	2167	c.1953G>A	c.(1951-1953)cgG>cgA	p.R651R	XPC_ENST00000449060.2_Silent_p.R614R	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	651	DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGGAGATGCCGCTTCAGGG	0.532			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1951-1953)cgG>cgA	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							133.0	130.0	131.0					3																	14197915		1988	4161	6149	SO:0001819	synonymous_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14197915C>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1953G>A	3.37:g.14197915C>T						XPC_ENST00000449060.2_Silent_p.R614R	p.R651R	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			10	2167	-			651			DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.1953G>A	CCDS46763.1																																																																																				0.532	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		4	126	0	0	0	1	0	4	126				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	36	0	0	0	1	0	4	36				
EGFL7	51162	broad.mit.edu	37	9	139564162	139564162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr9:139564162delC	ENST00000371699.1	+	5	1213	c.302delC	c.(301-303)gccfs	p.A101fs	EGFL7_ENST00000406555.3_Frame_Shift_Del_p.A101fs|EGFL7_ENST00000308874.7_Frame_Shift_Del_p.A101fs|EGFL7_ENST00000371698.3_Frame_Shift_Del_p.A101fs|MIR126_ENST00000362291.1_RNA|EGFL7_ENST00000492002.1_3'UTR			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	101	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CTTCCTGGGGCCTGTGGAGCA	0.667																																						ENST00000371699.1																			0				kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6						c.(301-303)gcfs		EGF-like-domain, multiple 7							11.0	14.0	13.0					9																	139564162		2174	4273	6447	SO:0001589	frameshift_variant	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139564162delC	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.302delC	9.37:g.139564162delC	ENSP00000360764:p.Ala101fs					EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000406555.3_Frame_Shift_Del_p.A101fs|EGFL7_ENST00000371698.3_Frame_Shift_Del_p.A101fs|EGFL7_ENST00000308874.7_Frame_Shift_Del_p.A101fs	p.A101fs			Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	5	1213	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	101			EMI.		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Frame_Shift_Del	DEL	ENST00000371699.1	37	c.302delC	CCDS7002.1																																																																																				0.667	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1	NM_016215		2	4						2	4	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105201643	105201643	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr10:105201643delA	ENST00000369797.3	+	31	4712	c.4618delA	c.(4618-4620)aatfs	p.N1540fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1540					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTCGCTTGGAATGTGGGACT	0.577																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(4618-4620)atfs		programmed cell death 11							50.0	56.0	54.0					10																	105201643		2203	4300	6503	SO:0001589	frameshift_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105201643delA	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4618delA	10.37:g.105201643delA	ENSP00000358812:p.Asn1540fs						p.N1540fs	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	31	4712	+		Colorectal(252;0.0747)|Breast(234;0.128)	1540					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Frame_Shift_Del	DEL	ENST00000369797.3	37	c.4618delA	CCDS31276.1																																																																																				0.577	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	25						10	25	---	---	---	---
DGKZ	8525	broad.mit.edu	37	11	46388339	46388339	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr11:46388339delG	ENST00000454345.1	+	2	658	c.533delG	c.(532-534)tggfs	p.W178fs	DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000395574.3_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	178					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CACGCTCTCTGGGGCCTGCAC	0.736																																						ENST00000454345.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25						c.(532-534)tgfs		diacylglycerol kinase, zeta							9.0	11.0	11.0					11																	46388339		1912	4032	5944	SO:0001589	frameshift_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46388339delG	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.533delG	11.37:g.46388339delG	ENSP00000412178:p.Trp178fs					DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000528615.1_Intron	p.W178fs	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	2	658	+			178					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Frame_Shift_Del	DEL	ENST00000454345.1	37	c.533delG	CCDS41640.1																																																																																				0.736	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		2	4						2	4	---	---	---	---
PRPF40B	25766	broad.mit.edu	37	12	50036730	50036730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr12:50036730delC	ENST00000380281.1	+	21	2137	c.2073delC	c.(2071-2073)ctcfs	p.L691fs	PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Frame_Shift_Del_p.L678fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	691					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCCAGCACCTCCACACCAAAG	0.542																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2032-2034)ctfs		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							126.0	103.0	111.0					12																	50036730		2203	4300	6503	SO:0001589	frameshift_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50036730delC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2073delC	12.37:g.50036730delC	ENSP00000369634:p.Leu691fs					FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.L712fs|PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.L691fs	p.L678fs			Q6NWY9	PR40B_HUMAN			21	2585	+			691					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Frame_Shift_Del	DEL	ENST00000380281.1	37	c.2034delC																																																																																					0.542	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		2	4						2	4	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40049644	40049655	+	In_Frame_Del	DEL	GTTTTCCTCCTC	GTTTTCCTCCTC	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr20:40049644_40049655delGTTTTCCTCCTC	ENST00000373233.3	-	31	5797_5808	c.5620_5631delGAGGAGGAAAAC	c.(5620-5631)gaggaggaaaacdel	p.EEEN1874del		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1874					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCATGGCTAAgttttcctcctcgttttcctcc	0.429																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(5620-5631)del		chromodomain helicase DNA binding protein 6																																				SO:0001651	inframe_deletion	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049644_40049655delGTTTTCCTCCTC	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5620_5631delGAGGAGGAAAAC	20.37:g.40049644_40049655delGTTTTCCTCCTC	ENSP00000362330:p.Glu1874_Asn1877del						p.EEEN1874del	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	5797_5808	-		Myeloproliferative disorder(115;0.00425)	1874			Poly-Glu.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	In_Frame_Del	DEL	ENST00000373233.3	37	c.5620_5631delGAGGAGGAAAAC	CCDS13317.1																																																																																				0.429	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			13	40						13	40	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18389469	18389477	+	In_Frame_Del	DEL	TCACAGAGC	TCACAGAGC	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chr22:18389469_18389477delTCACAGAGC	ENST00000441493.2	-	2	454_462	c.102_110delGCTCTGTGA	c.(100-111)gagctctgtgac>gac	p.ELC34del	MICAL3_ENST00000207726.7_In_Frame_Del_p.ELC34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000585038.1_In_Frame_Del_p.ELC34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELC34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELC34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELC34del	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	34	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCCAGGTGGTCACAGAGCTCCTGGAAAG	0.526																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(100-111)gac>ga		microtubule associated monooxygenase, calponin and LIM domain containing 3																																				SO:0001651	inframe_deletion	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18389469_18389477delTCACAGAGC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.102_110delGCTCTGTGA	22.37:g.18389469_18389477delTCACAGAGC	ENSP00000416015:p.Glu34_Cys36del					MICAL3_ENST00000207726.7_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000400561.2_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000429452.1_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000383094.3_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000444520.1_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000414725.2_In_Frame_Del_p.ELCD34del|MICAL3_ENST00000585038.1_In_Frame_Del_p.ELCD34del	p.ELCD34del	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	2	454_462	-		all_epithelial(15;0.198)	34					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	In_Frame_Del	DEL	ENST00000441493.2	37	c.102_110delGCTCTGTGA	CCDS46659.1																																																																																				0.526	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			13	148						13	148	---	---	---	---
COL4A5	1287	broad.mit.edu	37	X	107840258	107840258	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chrX:107840258delA	ENST00000361603.2	+	23	1791	c.1547delA	c.(1546-1548)gaafs	p.E516fs	COL4A5_ENST00000328300.6_Frame_Shift_Del_p.E516fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	516	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CAGAAAGGGGAAAAAGGACAA	0.398									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1546-1548)gafs		collagen, type IV, alpha 5							109.0	89.0	95.0					X																	107840258		2202	4299	6501	SO:0001589	frameshift_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107840258delA	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1547delA	X.37:g.107840258delA	ENSP00000354505:p.Glu516fs					COL4A5_ENST00000361603.2_Frame_Shift_Del_p.E516fs	p.E516fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			23	1791	+			516			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Del	DEL	ENST00000361603.2	37	c.1547delA	CCDS14543.1																																																																																				0.398	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			2	4						2	4	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-XQ-A8TB-01A-11D-A364-08	TCGA-XQ-A8TB-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4db6bb2-71f8-44d8-a00f-6d87d1deb7ba	21a67a0f-4f96-4d09-b462-3e06269d787c	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			0							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				5	10						5	10	---	---	---	---
